2020 |
Eow, S Y; Gan, W Y; Lim, P Y; Awang, H; Shariff, Mohd Z Factors associated with autism severity among Malaysian children with Autism Spectrum Disorder Journal Article Research in Developmental Disabilities, 100 , 2020, ISSN: 08914222, (cited By 0). Abstract | Links | BibTeX | Tags: Article, Autism, Body Weight, Children, Cross-Sectional Study, Demography, Disease Association, Disease Severity, Employment, Female, Human, Lifestyle, Major Clinical Study, Malaysia, Malaysian, Male, Parents, Preschool Child, School Child, Social Status @article standard logo 7, author = standard logo 6, url = standard logo 5, doi = standard logo 4, issn = standard logo 3, year = standard logo 2, date = standard logo 1, journal = standard logo 0, volume = sticky header logo 9, publisher = sticky header logo 8, abstract = sticky header logo 7, note = sticky header logo 6, keywords = sticky header logo 5, pubstate = sticky header logo 4, tppubtype = sticky header logo 3 } Background: Children with Autism Spectrum Disorder (ASD) of different levels of symptom severity may exhibit a wide range of behaviours and characteristics. There is a limited nutrition-related study on children with ASD of different severity in Malaysia. Aims: This cross-sectional study aims to determine the association between sociodemographic factors, parental factors, and lifestyle factors with autism severity in children with ASD. Methods and procedures: A total of 224 children with ASD were included in this study. Their mothers completed a self-administered questionnaire on sociodemographic characteristics, autism severity, parenting style, parental feeding practices, parenting stress, child's sleep habits and eating behaviours. Outcomes and results: As high as 78.1 % of the children with ASD demonstrated a high level of autism severity. Multiple linear regression showed that father's employment status (B = 6.970, 95 % CI = 3.172, 10.768, p < 0.001) and perceived child weight (B = 3.338, 95 % CI = 1.350, 5.327 |
Djatmika, ; Wibowo, A H; Sugini, ; Halim, H; Mohamad, B Multimodal strategies in teaching children with autism: A discourse analysis Journal Article Systematic Reviews in Pharmacy, 11 (2), pp. 219-229, 2020, ISSN: 09758453, (cited By 0). Abstract | Links | BibTeX | Tags: Article, Autism, Body Movement, Children, Discourse Analysis, Gesture, Human, Language, Loudness, Nonverbal Communication, Paralanguage, Priority Journal, Standing, Strategic Planning, Students, Teacher, Teaching, Verbal Behaviour, Verbal Communication @article sticky header logo 2, author = sticky header logo 1, url = sticky header logo 0, doi = end fusion sticky header wrapper 9, issn = end fusion sticky header wrapper 8, year = end fusion sticky header wrapper 7, date = end fusion sticky header wrapper 6, journal = end fusion sticky header wrapper 5, volume = end fusion sticky header wrapper 4, number = end fusion sticky header wrapper 3, pages = end fusion sticky header wrapper 2, publisher = end fusion sticky header wrapper 1, abstract = end fusion sticky header wrapper 0, note = fusion-row 9, keywords = fusion-row 8, pubstate = fusion-row 7, tppubtype = fusion-row 6 } The process of teaching and learning involving children with autism requires teachers to be creative in designing special and effective strategies to ensure students' understanding. This is due to the fact that these children have problems in communicating with others, thus need special attention from the teachers. The present research hopes to further understand the needs of these children by examining strategies undertaken by teachers at the Schools for Exceptional Children and Autism Centers in Solo citywhich assist children with autism. Five classes were observed and recorded audio-visually. Data representing the aspects of verbal behaviors, non verbal behaviors, and teaching aids exploitation were collected. Results show that the condition of autism children is a primary influence on the strategy in exploiting multimodal aspects. Thus, teachers must design different approaches in transferring knowledge to these children. In general, teachers always perform verbal exploitation in collaboration with the nonverbal aspects such asfacial gestures, body movements, standing positions, and paralinguistic resources such as intonation and loudness. The study also found thatout the five classes being studied, two classes were supported by an effective use of teaching aids. The findings contributed towards a better understanding for teachers and parents of the needs of autism children during the teaching and learning process. © Advanced Scientific Research. All rights reserved. |
2019 |
Singh, Balbir H K; Badgujar, V B; Yahaya, R S; Rahman, Abd S; Sami, F M; Badgujar, S; Govindan, S N; Ansari, M T Assessment of knowledge and attitude among postnatal mothers towards childhood vaccination in Malaysia Journal Article Human Vaccines and Immunotherapeutics, 15 (11), pp. 2544-2551, 2019, ISSN: 21645515, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Attitude, Attitude to Health, Autism, Child Health, Childhood Vaccination, Children, Cross-Sectional Study, Diphtheria Pertussis Poliomyelitis Tetanus Haemophilus Influenzae Type B Hepatitis B Vaccine, Education, Employment, Ethnicity, Female, Health Knowledge, Human, Immunization Programs, Knowledge, Likert Scale, Major Clinical Study, Malaysia, Mother, Mothers, Needs Assessment, Occupation, Postnatal Care, Practice, Preschool Child, Preventive Health Service, Psychology, Questionnaires, Seasonal Influenza, Surveys, Vaccination, Young Adult @article fusion-row 5, author = fusion-row 4, url = fusion-row 3, doi = fusion-row 2, issn = fusion-row 1, year = fusion-row 0, date = #main 9, journal = #main 8, volume = #main 7, number = #main 6, pages = #main 5, publisher = #main 4, abstract = #main 3, note = #main 2, keywords = #main 1, pubstate = #main 0, tppubtype = [if lt IE 9]> } Aim: Mothers knowledge and attitude toward childhood vaccination influence uptake is the most adequate tool and preventive aspects to infectious disease epidemics. The present study assesses and measures knowledge and attitude of postnatal mothers toward vaccination. Methods and results: The present study adopted a cross-sectional study design, whereby 200 postnatal mothers were identified during their postnatal visit to clinics. The subjects were accessed using questionnaire to assess the level of knowledge and attitude of mothers regarding vaccination. The objectives were to study the level of knowledge, the attitude, and to find the association between knowledge and attitude of the study subjects. The data were analyzed using SPSS version 16. The results was analyzed through chi-square test. The association between age (p =.031), education (p =.021), occupation (p =.013), and knowledge score toward vaccination was found to be statistically significant. However, ethnicity (p =.127), employment (p =.197), and mode of delivery (p =.750) toward mothers vaccination knowledge were not significant for the study. Mothers education, age, and occupation were found to be associated with attitude toward childhood vaccination. No association was found between ethnicity, employment, and mode of delivery with attitude of childhood vaccination. Conclusion: More than half of the studied mothers had good knowledge scores on vaccination, more than two-thirds of the studied mothers had good attitude scores on vaccination. However, the religious misconception and fear of autism was the main cause of vaccine resistance in Malaysia. © 2019, © 2019 Taylor & Francis Group, LLC. |
Ramachandram, S Medical Journal of Malaysia, 74 (5), pp. 372-376, 2019, ISSN: 03005283, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Article, Asthma, Autism, Birth Weight, Child Development, Children, Chinese, Conception, Demography, Diet Restriction, DSM-5, Eczema, Education, Educational Status, Epilepsy, Female, Genetic Disorder, Heart Atrium Septum Defect, Heart Ventricle Septum Defect, Human, Indian, Major Clinical Study, Malay, Male, Medical Record Review, Penang, Prematurity, Speech Disorder, Upper Respiratory Tract Congestion, Wakefulness @article[if lt IE 9]>
author = [if lt IE 9]>
url = [if lt IE 9]>
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year = [if lt IE 9]>
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pages = fusion-columns 9, publisher = fusion-columns 8, abstract = fusion-columns 7, note = fusion-columns 6, keywords = fusion-columns 5, pubstate = fusion-columns 4, tppubtype = fusion-columns 3 } Objective: To explore socio-demographics and clinical characteristics of children with Autism Spectrum Disorder (ASD) at Child Development Clinic (CDC), Penang Hospital. Study design: A record review study of 331 children with ASD attending CDC, Penang Hospital from September 2013 to April 2017. Results: Out of 331 children with ASD, 82.5% were males, 17.5% females, with male to female ratio of 4.7:1. Mean age at consultation was 5 years and 6 months (SD 31.68 months) with age range from 19 months to 18 years and 4 months. 85.8% were term infants with normal birth weight. History of speech regression was noted in 14.8%, epilepsy and genetic disorders in 9.4% and 5.7% respectively. Sleep problems was reported in 29.3%, dietary issues 22.1%, challenging behaviour 24.2% and ADHD 14.2%. Mean age of the father and mother at birth was 33.6 and 31.6 years respectively. Conclusion: In this study, we report a higher male to female ratio and mean age at referral with some similar rates of neurodevelopmental and medical comorbidities and relatively younger parental age with higher parental education levels. © 2019, Malaysian Medical Association. All rights reserved. |
Khan, N A; Soopramanien, M; Siddiqui, R Crocodiles and alligators: Physicians’ answer to cancer? Journal Article Current Oncology, 26 (3), pp. 186, 2019, ISSN: 11980052, (cited By 1). Links | BibTeX | Tags: Allergic Disease, Alligators and Crocodiles, Animal Product, Animals, Antineoplastic Activity, Antineoplastic Agent, Article, Atopic Dermatitis, Autism, Cancer Growth, Cancer Therapy, Carcinogen, Contaminated Organism, Crocodilian, End Cretaceous Mass Extinction, Environmental Factor, Environmental Stress, Gastrointestinal Microbiome, Health Behaviour, Heavy Metal, Human, Immune System, Inflammatory Bowel Disease, Intestine Flora, Longevity, Metabolic Disorder, Microbiology, Neoplasm, Neoplasms, Nerve Cell Differentiation, Physician, Schizophrenia, Survival Analysis, Terminal Disease @article fusion-columns 2, author = fusion-columns 1, url = fusion-columns 0, doi = fusion-row 9, issn = fusion-row 8, year = fusion-row 7, date = fusion-row 6, journal = fusion-row 5, volume = fusion-row 4, number = fusion-row 3, pages = fusion-row 2, publisher = fusion-row 1, note = fusion-row 0, keywords = fusion-footer-widget-area 9, pubstate = fusion-footer-widget-area 8, tppubtype = fusion-footer-widget-area 7 } |
Liu, Y -W; Liong, M T; Chung, Y -C E; Huang, H -Y; Peng, W -S; Cheng, Y -F; Lin, Y -S; Wu, Y -Y; Tsai, Y -C Nutrients, 11 (4), 2019, ISSN: 20726643, (cited By 4). Abstract | Links | BibTeX | Tags: Aberrant Behavior Checklist Taiwan version, Adolescent, Age, Age Factors, Aggression, Anxiety, Article, Attention Deficit Disorder, Autism, Autism Behavior Checklist, Autism Diagnostic Interview Revised, Autism Spectrum Disorders, Child Behaviour, Child Behaviour Checklist, Children, Clinical Global Impression Scale, Communication Disorder, Controlled Study, Double Blind Procedure, Double-Blind Method, Female, Generalized Anxiety Disorder, Human, Impulsiveness, Lactobacillus Plantarum, Male, Physiology, Placebo, Placebos, Posttraumatic Stress Disorder, Probiotic Agent, Probiotics, Psychology, Questionnaires, Randomized Controlled Trial, Rating Scale, School Child, Scoring System, Social Behaviour, Social Interactions, Social Problem, Social Responsiveness Scale, Surveys, Swanson Nolan and Pelham IV Assessment, Synaptosomal Associated Protein 23, Taiwan @article fusion-footer-widget-area 6, author = fusion-footer-widget-area 5, url = fusion-footer-widget-area 4, doi = fusion-footer-widget-area 3, issn = fusion-footer-widget-area 2, year = fusion-footer-widget-area 1, date = fusion-footer-widget-area 0, journal = fusion-fusion-copyright-content 9, volume = fusion-fusion-copyright-content 8, number = fusion-fusion-copyright-content 7, publisher = fusion-fusion-copyright-content 6, abstract = fusion-fusion-copyright-content 5, note = fusion-fusion-copyright-content 4, keywords = fusion-fusion-copyright-content 3, pubstate = fusion-fusion-copyright-content 2, tppubtype = fusion-fusion-copyright-content 1 } This four-week, randomized, double-blind, placebo-controlled study investigated the effects of Lactobacillus plantarum PS128 (PS128) on boys with autism spectrum disorder (ASD) aged 7-15 in Taiwan. All subjects fulfilled the criteria for ASD diagnosis of DSM-V and the Autism Diagnostic Interview-Revised (ADI-R). Questionnaires used for the primary outcome measure include the Autism Behavior Checklist-Taiwan version (ABC-T), the Social Responsiveness Scale (SRS) and the Child Behavior Checklist (CBCL). The Swanson, Nolan, and Pelham-IV-Taiwan version (SNAP-IV) and the Clinical Global Impression-improvement (CGI-I) were used for the secondary outcome measure. The results showed that PS128 ameliorated opposition/defiance behaviors, and that the total score of SNAP-IV for younger children (aged 7−12) improved significantly compared with the placebo group. Additionally, several elements were also notably improved in the PS128 group after 28-day consumption of PS128. Further studies are needed to better clarify the effects of PS128 for younger children with ASD on broader symptoms. © 2019 by the authors. Licensee MDPI, Basel, Switzerland. |
Jaafar, N H; Othman, A; Majid, N A; Harith, S; Zabidi-Hussin, Z Parent-report instruments for assessing feeding difficulties in children with neurological impairments: a systematic review Journal Article Developmental Medicine and Child Neurology, 61 (2), pp. 135-144, 2019, ISSN: 00121622, (cited By 1). Abstract | Links | BibTeX | Tags: Assessment of Humans, Autism, Behavioural Paediatric Feeding Assessment Scale, Caloric Intake, Child Behaviour, Child Parent Relation, Childhood Disease, Children, Children's Eating Behaviour Inventory, Complication, Construct Validity, Content Validity, Criterion Related Validity, Cystic Fibrosis, Eating Disorder, Enalapril Maleate, Eosinophilic Gastrointestinal Disorder, Esophagus Atresia, Feeding, Feeding and Eating Disorders, Feeding Behavior, Feeding Difficulty, Food Intake, Human, Nervous System Diseases, Neurologic Disease, Nutritional Assessment, Parents, Pediatric Assessment Scale for Severe Feeding Problem, Pediatric Eating Assessment Tool, Predictive Value, Preschool, Preschool Child, Priority Journal, Procedures, Psychology, Psychometrics, Psychometry, Quality of Life, Receiver Operating Characteristic, Review, Scoring System, Self Disclosure, Sensitivity and Specificity, Syndrome CHARGE, Systematic Review, Test Retest Reliability @article fusion-fusion-copyright-content 0, author = fusion-row 9, url = fusion-row 8, doi = fusion-row 7, issn = fusion-row 6, year = fusion-row 5, date = fusion-row 4, journal = fusion-row 3, volume = fusion-row 2, number = fusion-row 1, pages = fusion-row 0, publisher = #footer 9, abstract = #footer 8, note = #footer 7, keywords = #footer 6, pubstate = #footer 5, tppubtype = #footer 4 } Aim: This study aimed to review the psychometric properties and clinical application of parent-report instruments that assess feeding difficulties in children with neurological impairments. Method: Papers were identified through five electronic databases based on 15 keywords and were included if they met the following criteria: published in English, described the implementation of parent-report instruments, and included children with neurological impairments (either in the report or a related study population). Results: In total, 1220 relevant abstracts were screened and 22 full-text articles were evaluated. The following six parent-report instruments met the inclusion criteria: (1) Screening Tool of Feeding Problems applied to children, (2) Paediatric Eating Assessment Tool, (3) Paediatric Assessment Scale for Severe Feeding Problems, (4) Montreal Children's Hospital Feeding Scale, (5) Children's Eating Behaviour Inventory, and (6) Behavioural Paediatric Feeding Assessment Scale (BPFAS). Based on comprehensive psychometric testing and consistently good results, the BPFAS was considered the most valid and reliable instrument. The BPFAS also showed good clinical applicability because it was readily available, required a short administration time, and used a simple scoring system. Interpretation: We reviewed the available parent-report instruments for assessing feeding difficulties in children with neurological impairments. The BPFAS had the best psychometric properties and clinical applicability. What this paper adds: Six parent-report instruments were suitable for assessing feeding in children with neurological impairments. The Behavioural Paediatric Feeding Assessment Scale (BPFAS) has the strongest psychometric properties. The BPFAS also has good clinical applicability. © 2018 Mac Keith Press |
2018 |
Al-Hiyali, M I; Ishak, A J; Harun, H; Ahmad, S A; Sulaiman, Wan W A A review in modification food-intake behavior by brain stimulation: Excess weight cases Journal Article NeuroQuantology, 16 (12), pp. 86-97, 2018, ISSN: 13035150, (cited By 2). Abstract | Links | BibTeX | Tags: Amygdala, Anoxia, Article, Autism, Binge Eating Disorder, Body Mass, Body Weight, Brain Depth Stimulation, Depolarization, Dietary Intake, Drug Craving, Eating Disorder, Electric Current, Electroencephalogram, Electroencephalography, Energy Consumption, Energy Expenditure, Feeding Behavior, Food Intake, Functional Magnetic Resonance Imaging, Gender, Health Status, Homeostasis, Human, Hunger, Lifestyle, Nerve Cell Membrane Steady Potential, Nerve Excitability, Neurofeedback, Neuromodulation, Nutritional Assessment, Outcome Assessment, Questionnaires, Repetitive Transcranial Magnetic Stimulation, Signal Processing, Training, Transcranial Direct Current Stimulation, Transcranial Magnetic Stimulation, Underweight @article #footer 3, author = #footer 2, url = #footer 1, doi = #footer 0, issn = fusion-footer 9, year = fusion-footer 8, date = fusion-footer 7, journal = fusion-footer 6, volume = fusion-footer 5, number = fusion-footer 4, pages = fusion-footer 3, publisher = fusion-footer 2, abstract = fusion-footer 1, note = fusion-footer 0, keywords = wrapper 9, pubstate = wrapper 8, tppubtype = wrapper 7 } Obesity and overweight are frequently prescribed for dysfunction in food-intake behavior. Due to the widely prevalence of obesity in last year’s, there is demand for more studies which are aimed to modify the food-intake behavior. For the past decades many researches has applied in modify food-intake by brain training or stimulation. This review for neuroscience studies in modifying food-intake behavior, it’s involved three sections; The first section explained the role of brain activity in food-intake regulation, general ideas about biomedical devices in food-intake behavior are discussed in second section and third section focused on brain-stimulation systems. Finally, this paper concluded with main points that need to be taken into account when designing experimental study for modification food-intake behavior by brain stimulation according to previous studies recommendation and challenges. © 2018, Anka Publishers. All Rights Reserved. |
Toh, T -H; Tan, V W -Y; Lau, P S -T; Kiyu, A Accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in Detecting Autism and Other Developmental Disorders in Community Clinics Journal Article Journal of Autism and Developmental Disorders, 48 (1), pp. 28-35, 2018, ISSN: 01623257, (cited By 9). Abstract | Links | BibTeX | Tags: Article, Autism, Autism Assessment, Autism Spectrum Disorders, Checklist, Children, Cohort Analysis, Cohort Studies, Community Health Centers, Developmental Disorders, Diagnostic Accuracy, Female, Health Center, Human, Infant, Major Clinical Study, Malaysia, Male, Mass Screening, Modified Checklist for Autism in Toddlers, Pediatric Hospital, Predictive Value, Preschool, Preschool Child, Priority Journal, Procedures, Psychology, Retrospective Studies, Retrospective Study, Sensitivity and Specificity, Standards, Toddler @article wrapper 6, author = wrapper 5, url = wrapper 4, doi = wrapper 3, issn = wrapper 2, year = wrapper 1, date = wrapper 0, journal = #boxed-wrapper 9, volume = #boxed-wrapper 8, number = #boxed-wrapper 7, pages = #boxed-wrapper 6, publisher = #boxed-wrapper 5, abstract = #boxed-wrapper 4, note = #boxed-wrapper 3, keywords = #boxed-wrapper 2, pubstate = #boxed-wrapper 1, tppubtype = #boxed-wrapper 0 } This study determined the accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in detecting toddlers with autism spectrum disorder (ASD) and other developmental disorders (DD) in community mother and child health clinics. We analysed 19,297 eligible toddlers (15–36 months) who had M-CHAT performed in 2006–2011. Overall sensitivities for detecting ASD and all DD were poor but better in the 21 to <27 months and 27–36-month age cohorts (54.5–64.3%). Although positive predictive value (PPV) was poor for ASD, especially the younger cohort, positive M-CHAT helped in detecting all DD (PPV = 81.6%). This suggested M-CHAT for screening ASD was accurate for older cohorts (>21 months) and a useful screening tool for all DD. © 2017, Springer Science+Business Media, LLC. |
Masiran, R Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index @article Instagram Feed JS 9, author = Instagram Feed JS 8, url = Instagram Feed JS 7, doi = Instagram Feed JS 6, issn = Instagram Feed JS 5, year = Instagram Feed JS 4, date = Instagram Feed JS 3, journal = Instagram Feed JS 2, volume = Instagram Feed JS 1, publisher = Instagram Feed JS 0, abstract = {An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018.}, note = {cited By 0}, keywords = {Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index}, pubstate = {published}, tppubtype = {article} } An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018. |
Tsuchida, N; Hamada, K; Shiina, M; Kato, M; Kobayashi, Y; Tohyama, J; Kimura, K; Hoshino, K; Ganesan, V; Teik, K W; Nakashima, M; Mitsuhashi, S; Mizuguchi, T; Takata, A; Miyake, N; Saitsu, H; Ogata, K; Miyatake, S; Matsumoto, N GRIN2D variants in three cases of developmental and epileptic encephalopathy Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). Abstract | Links | BibTeX | Tags: Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing @article{Tsuchida2018538, title = {GRIN2D variants in three cases of developmental and epileptic encephalopathy}, author = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&partnerID=40&md5=f0d32670db57261820bc244943cffd62}, doi = {10.1111/cge.13454}, issn = {00099163}, year = {2018}, date = {2018-01-01}, journal = {Clinical Genetics}, volume = {94}, number = {6}, pages = {538-547}, publisher = {Blackwell Publishing Ltd}, abstract = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd}, note = {cited By 4}, keywords = {Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing}, pubstate = {published}, tppubtype = {article} } N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
Hariharan, M; Sindhu, R; Vijean, V; Yazid, H; Nadarajaw, T; Yaacob, S; Polat, K Improved binary dragonfly optimization algorithm and wavelet packet based non-linear features for infant cry classification Journal Article Computer Methods and Programs in Biomedicine, 155 , pp. 39-51, 2018, ISSN: 01692607, (cited By 21). Abstract | Links | BibTeX | Tags: Accidents, Algorithms, Article, Artificial Neural Network, Asphyxia, Binary Dragonfly Optimization Aalgorithm, Classification (of information), Classification Algorithm, Classifier, Coding, Computer-Assisted, Constants and Coefficients, Crying, Database Systems, Databases, Deafness, Diagnosis, Energy, Entropy, Extraction, Extreme Learning Machine, Factual, Factual Database, Feature Extraction, Feature Selection Methods, Fuzzy System, Hearing Impairment, Human, Hunger, Infant, Infant Cry, Infant Cry Classifications, Jaundice, Kernel Method, Learning, Linear Predictive Coding, Machine Learning, Mathematical Transformations, Mel Frequency Cepstral Coefficient, Mel Frequency Cepstral Coefficients, Multi-Class Classification, Neural Networks, Nonlinear Dynamics, Nonlinear System, Optimization, Pain, Pathophysiology, Prematurity, Reproducibility, Reproducibility of Results, Signal Processing, Speech Recognition, Wavelet Analysis, Wavelet Packet, Wavelet Packet Transforms @article{Hariharan201839, title = {Improved binary dragonfly optimization algorithm and wavelet packet based non-linear features for infant cry classification}, author = {M Hariharan and R Sindhu and V Vijean and H Yazid and T Nadarajaw and S Yaacob and K Polat}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85036611215&doi=10.1016%2fj.cmpb.2017.11.021&partnerID=40&md5=1f3b17817b00f07cadad6eb61c0f4bf9}, doi = {10.1016/j.cmpb.2017.11.021}, issn = {01692607}, year = {2018}, date = {2018-01-01}, journal = {Computer Methods and Programs in Biomedicine}, volume = {155}, pages = {39-51}, publisher = {Elsevier Ireland Ltd}, abstract = {Background and objective Infant cry signal carries several levels of information about the reason for crying (hunger, pain, sleepiness and discomfort) or the pathological status (asphyxia, deaf, jaundice, premature condition and autism, etc.) of an infant and therefore suited for early diagnosis. In this work, combination of wavelet packet based features and Improved Binary Dragonfly Optimization based feature selection method was proposed to classify the different types of infant cry signals. Methods Cry signals from 2 different databases were utilized. First database contains 507 cry samples of normal (N), 340 cry samples of asphyxia (A), 879 cry samples of deaf (D), 350 cry samples of hungry (H) and 192 cry samples of pain (P). Second database contains 513 cry samples of jaundice (J), 531 samples of premature (Prem) and 45 samples of normal (N). Wavelet packet transform based energy and non-linear entropies (496 features), Linear Predictive Coding (LPC) based cepstral features (56 features), Mel-frequency Cepstral Coefficients (MFCCs) were extracted (16 features). The combined feature set consists of 568 features. To overcome the curse of dimensionality issue, improved binary dragonfly optimization algorithm (IBDFO) was proposed to select the most salient attributes or features. Finally, Extreme Learning Machine (ELM) kernel classifier was used to classify the different types of infant cry signals using all the features and highly informative features as well. Results Several experiments of two-class and multi-class classification of cry signals were conducted. In binary or two-class experiments, maximum accuracy of 90.18% for H Vs P, 100% for A Vs N, 100% for D Vs N and 97.61% J Vs Prem was achieved using the features selected (only 204 features out of 568) by IBDFO. For the classification of multiple cry signals (multi-class problem), the selected features could differentiate between three classes (N, A & D) with the accuracy of 100% and seven classes with the accuracy of 97.62%. Conclusion The experimental results indicated that the proposed combination of feature extraction and selection method offers suitable classification accuracy and may be employed to detect the subtle changes in the cry signals. © 2017 Elsevier B.V.}, note = {cited By 21}, keywords = {Accidents, Algorithms, Article, Artificial Neural Network, Asphyxia, Binary Dragonfly Optimization Aalgorithm, Classification (of information), Classification Algorithm, Classifier, Coding, Computer-Assisted, Constants and Coefficients, Crying, Database Systems, Databases, Deafness, Diagnosis, Energy, Entropy, Extraction, Extreme Learning Machine, Factual, Factual Database, Feature Extraction, Feature Selection Methods, Fuzzy System, Hearing Impairment, Human, Hunger, Infant, Infant Cry, Infant Cry Classifications, Jaundice, Kernel Method, Learning, Linear Predictive Coding, Machine Learning, Mathematical Transformations, Mel Frequency Cepstral Coefficient, Mel Frequency Cepstral Coefficients, Multi-Class Classification, Neural Networks, Nonlinear Dynamics, Nonlinear System, Optimization, Pain, Pathophysiology, Prematurity, Reproducibility, Reproducibility of Results, Signal Processing, Speech Recognition, Wavelet Analysis, Wavelet Packet, Wavelet Packet Transforms}, pubstate = {published}, tppubtype = {article} } Background and objective Infant cry signal carries several levels of information about the reason for crying (hunger, pain, sleepiness and discomfort) or the pathological status (asphyxia, deaf, jaundice, premature condition and autism, etc.) of an infant and therefore suited for early diagnosis. In this work, combination of wavelet packet based features and Improved Binary Dragonfly Optimization based feature selection method was proposed to classify the different types of infant cry signals. Methods Cry signals from 2 different databases were utilized. First database contains 507 cry samples of normal (N), 340 cry samples of asphyxia (A), 879 cry samples of deaf (D), 350 cry samples of hungry (H) and 192 cry samples of pain (P). Second database contains 513 cry samples of jaundice (J), 531 samples of premature (Prem) and 45 samples of normal (N). Wavelet packet transform based energy and non-linear entropies (496 features), Linear Predictive Coding (LPC) based cepstral features (56 features), Mel-frequency Cepstral Coefficients (MFCCs) were extracted (16 features). The combined feature set consists of 568 features. To overcome the curse of dimensionality issue, improved binary dragonfly optimization algorithm (IBDFO) was proposed to select the most salient attributes or features. Finally, Extreme Learning Machine (ELM) kernel classifier was used to classify the different types of infant cry signals using all the features and highly informative features as well. Results Several experiments of two-class and multi-class classification of cry signals were conducted. In binary or two-class experiments, maximum accuracy of 90.18% for H Vs P, 100% for A Vs N, 100% for D Vs N and 97.61% J Vs Prem was achieved using the features selected (only 204 features out of 568) by IBDFO. For the classification of multiple cry signals (multi-class problem), the selected features could differentiate between three classes (N, A & D) with the accuracy of 100% and seven classes with the accuracy of 97.62%. Conclusion The experimental results indicated that the proposed combination of feature extraction and selection method offers suitable classification accuracy and may be employed to detect the subtle changes in the cry signals. © 2017 Elsevier B.V. |
Low, H M; Zailan, F Medical students’ perceptions, awareness, societal attitudes and knowledge of autism spectrum disorder: an exploratory study in Malaysia Journal Article International Journal of Developmental Disabilities, 64 (2), pp. 86-95, 2018, ISSN: 20473869, (cited By 1). Abstract | Links | BibTeX | Tags: Adult, Article, Autism, Awareness, Behaviour, Exploratory Research, Female, Human, Knowledge, Malaysia, Male, Medical Student, Student Attitude, Students, Symptom @article{Low201886, title = {Medical students’ perceptions, awareness, societal attitudes and knowledge of autism spectrum disorder: an exploratory study in Malaysia}, author = {H M Low and F Zailan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85002273499&doi=10.1080%2f20473869.2016.1264663&partnerID=40&md5=4b1b16448e16172b2dce10eacf1c3f3d}, doi = {10.1080/20473869.2016.1264663}, issn = {20473869}, year = {2018}, date = {2018-01-01}, journal = {International Journal of Developmental Disabilities}, volume = {64}, number = {2}, pages = {86-95}, publisher = {Taylor and Francis Ltd.}, abstract = {Objectives: This study aimed to investigate the perception, awareness, societal attitude, and knowledge about Autism Spectrum Disorder (ASD) in Malaysian medical students. Methods: An exploratory survey was conducted with 83 medical students in Malaysia. In the survey, the medical students were required to rate their perception, awareness, societal attitude, and their recognition of ASD symptoms. Results: The results showed the senior medical students had increased knowledge about ASD symptoms compared to the juniors, but there was no clear indicator that they had obtained the knowledge through formal training. Specifically, the medical students could better identify symptoms related to restrictive and fixation behavioral patterns than social communicative deficits. While considering the effects of societal attitude, year of study, perception about ASD course and other demographic variables, the year of study emerged as the sole predictor of the medical students’ knowledge about ASD. Conclusion: The findings from this study provided evidence for the need of compulsory training on ASD in medical schools in improve the knowledge and skills of prospective medical practitioners to identify individuals with ASD. Such effort is fundamental for the early identification and intervention of ASD in developing countries such as Malaysia. © 2016, © The British Society of Developmental Disabilities 2016.}, note = {cited By 1}, keywords = {Adult, Article, Autism, Awareness, Behaviour, Exploratory Research, Female, Human, Knowledge, Malaysia, Male, Medical Student, Student Attitude, Students, Symptom}, pubstate = {published}, tppubtype = {article} } Objectives: This study aimed to investigate the perception, awareness, societal attitude, and knowledge about Autism Spectrum Disorder (ASD) in Malaysian medical students. Methods: An exploratory survey was conducted with 83 medical students in Malaysia. In the survey, the medical students were required to rate their perception, awareness, societal attitude, and their recognition of ASD symptoms. Results: The results showed the senior medical students had increased knowledge about ASD symptoms compared to the juniors, but there was no clear indicator that they had obtained the knowledge through formal training. Specifically, the medical students could better identify symptoms related to restrictive and fixation behavioral patterns than social communicative deficits. While considering the effects of societal attitude, year of study, perception about ASD course and other demographic variables, the year of study emerged as the sole predictor of the medical students’ knowledge about ASD. Conclusion: The findings from this study provided evidence for the need of compulsory training on ASD in medical schools in improve the knowledge and skills of prospective medical practitioners to identify individuals with ASD. Such effort is fundamental for the early identification and intervention of ASD in developing countries such as Malaysia. © 2016, © The British Society of Developmental Disabilities 2016. |
Thu, Ei H; Hussain, Z; Shuid, A N Current Drug Targets, 19 (8), pp. 865-876, 2018, ISSN: 13894501, (cited By 2). Abstract | Links | BibTeX | Tags: Amisulpride, Amitriptyline, Animals, Antipsychotic Agents, Anxiety, Aripiprazole, Autism, Bioavailability, Biological Availability, Bipolar Disorder, Buspirone, Chemistry, Clonazepam, Clozapine, Depression, Diazepam, Drug Delivery System, Drug Delivery Systems, Duloxetine, Half Life Time, Half-Life, Health Care, Human, Iloperidone, In Vitro Study, In Vivo Study, Mental Disease, Mental Disorders, Midazolam, Nanotechnology, Neuroleptic Agent, Olanzapine, Pathophysiology, Permeability, Physical Chemistry, Psychosis, Review, Risperidone, Schizophrenia, Solubility, Sulpiride, Treatment Outcome, Venlafaxine, Ziprasidone @article{EiThu2018865, title = {New insight in improving therapeutic efficacy of antipsychotic agents: An overview of improved in vitro and in vivo performance, efficacy upgradation and future prospects}, author = {H Ei Thu and Z Hussain and A N Shuid}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85048981535&doi=10.2174%2f1389450117666161125174625&partnerID=40&md5=d32e5bc9766ff9d68dd79f082b9ca4bc}, doi = {10.2174/1389450117666161125174625}, issn = {13894501}, year = {2018}, date = {2018-01-01}, journal = {Current Drug Targets}, volume = {19}, number = {8}, pages = {865-876}, publisher = {Bentham Science Publishers B.V.}, abstract = {Psychotic disorders are recognized as severe mental disorders that rigorously affect pa-tient’s personality, critical thinking, and perceptional ability. High prevalence, global dissemination and limitations of conventional pharmacological approaches compel a significant burden to the patient, medical professionals and the healthcare system. To date, numerous orally administered therapies are available for the management of depressive disorders, schizophrenia, anxiety, bipolar disorders and autism spectrum problems. However, poor water solubility, erratic oral absorption, extensive first-pass metabolism, low oral bioavailability and short half-lives are the major factors which limit the pharmaceutical significance and therapeutic feasibility of these agents. In recent decades, nanotechnology-based delivery systems have gained remarkable attention of the researchers to mitigate the pharmaceutical issues related to the antipsychotic therapies and to optimize their oral drug delivery, therapeutic outcomes, and patient compliance. Therefore, the present review was aimed to summarize the available in vitro and in vivo evidences signifying the pharmaceutical importance of the advanced delivery systems in improving the aqueous solubility, transmembrane permeability, oral bioavailability and therapeutic outcome of the antipsychotic agents. © 2018 Bentham Science Publishers.}, note = {cited By 2}, keywords = {Amisulpride, Amitriptyline, Animals, Antipsychotic Agents, Anxiety, Aripiprazole, Autism, Bioavailability, Biological Availability, Bipolar Disorder, Buspirone, Chemistry, Clonazepam, Clozapine, Depression, Diazepam, Drug Delivery System, Drug Delivery Systems, Duloxetine, Half Life Time, Half-Life, Health Care, Human, Iloperidone, In Vitro Study, In Vivo Study, Mental Disease, Mental Disorders, Midazolam, Nanotechnology, Neuroleptic Agent, Olanzapine, Pathophysiology, Permeability, Physical Chemistry, Psychosis, Review, Risperidone, Schizophrenia, Solubility, Sulpiride, Treatment Outcome, Venlafaxine, Ziprasidone}, pubstate = {published}, tppubtype = {article} } Psychotic disorders are recognized as severe mental disorders that rigorously affect pa-tient’s personality, critical thinking, and perceptional ability. High prevalence, global dissemination and limitations of conventional pharmacological approaches compel a significant burden to the patient, medical professionals and the healthcare system. To date, numerous orally administered therapies are available for the management of depressive disorders, schizophrenia, anxiety, bipolar disorders and autism spectrum problems. However, poor water solubility, erratic oral absorption, extensive first-pass metabolism, low oral bioavailability and short half-lives are the major factors which limit the pharmaceutical significance and therapeutic feasibility of these agents. In recent decades, nanotechnology-based delivery systems have gained remarkable attention of the researchers to mitigate the pharmaceutical issues related to the antipsychotic therapies and to optimize their oral drug delivery, therapeutic outcomes, and patient compliance. Therefore, the present review was aimed to summarize the available in vitro and in vivo evidences signifying the pharmaceutical importance of the advanced delivery systems in improving the aqueous solubility, transmembrane permeability, oral bioavailability and therapeutic outcome of the antipsychotic agents. © 2018 Bentham Science Publishers. |
2017 |
Hnoonual, A; Thammachote, W; Tim-Aroon, T; Rojnueangnit, K; Hansakunachai, T; Sombuntham, T; Roongpraiwan, R; Worachotekamjorn, J; Chuthapisith, J; Fucharoen, S; Wattanasirichaigoon, D; Ruangdaraganon, N; Limprasert, P; Jinawath, N Scientific Reports, 7 (1), 2017, ISSN: 20452322, (cited By 6). Abstract | Links | BibTeX | Tags: Adolescent, Autism, Autism Spectrum Disorders, Children, Chromosomal Mapping, Chromosome Mapping, Cohort Analysis, Cohort Studies, Copy Number Variation, DNA Copy Number Variations, Female, Genetic Predisposition, Genetic Predisposition to Disease, Genetics, Human, Infant, Male, Membrane Protein, Membrane Proteins, Microarray Analysis, Polymorphism, Preschool, Preschool Child, Procedures, SERINC2 Protein, Single Nucleotide, Single Nucleotide Polymorphism @article{Hnoonual2017, title = {Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder}, author = {A Hnoonual and W Thammachote and T Tim-Aroon and K Rojnueangnit and T Hansakunachai and T Sombuntham and R Roongpraiwan and J Worachotekamjorn and J Chuthapisith and S Fucharoen and D Wattanasirichaigoon and N Ruangdaraganon and P Limprasert and N Jinawath}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85029864969&doi=10.1038%2fs41598-017-12317-3&partnerID=40&md5=3c1b6a0c064665aab8ace8e8f58c2b01}, doi = {10.1038/s41598-017-12317-3}, issn = {20452322}, year = {2017}, date = {2017-01-01}, journal = {Scientific Reports}, volume = {7}, number = {1}, publisher = {Nature Publishing Group}, abstract = {Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02}, note = {cited By 6}, keywords = {Adolescent, Autism, Autism Spectrum Disorders, Children, Chromosomal Mapping, Chromosome Mapping, Cohort Analysis, Cohort Studies, Copy Number Variation, DNA Copy Number Variations, Female, Genetic Predisposition, Genetic Predisposition to Disease, Genetics, Human, Infant, Male, Membrane Protein, Membrane Proteins, Microarray Analysis, Polymorphism, Preschool, Preschool Child, Procedures, SERINC2 Protein, Single Nucleotide, Single Nucleotide Polymorphism}, pubstate = {published}, tppubtype = {article} } Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02 |
Shuib, S; Saaid, N N; Zakaria, Z; Ismail, J; Latiff, Abdul Z Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay Journal Article Malaysian Journal of Pathology, 39 (1), pp. 77-81, 2017, ISSN: 01268635, (cited By 0). Abstract | Links | BibTeX | Tags: Abnormalities, Agarose, Article, Autism, Autism Spectrum Disorders, Blood Culture, Case Report, Children, Chromosome 17, Chromosome Analysis, Chromosome Disorder, Chromosome Duplication, Chromosomes, Clinical Article, Comparative Genomic Hybridization, Developmental Delay, Electrophoresis, Female, Fluorescence, Fluorescence in Situ Hybridization, Gene, Gene Identification, Genetics, Genomic DNA, Human, In Situ Hybridization, Lymphocyte Culture, Microarray Analysis, Multiple, Multiple Malformation Syndrome, Pair 17, Phenotype, Potocki Lupski Syndrome, Preschool, Preschool Child, Procedures, RAI1 Gene, Ultraviolet Spectrophotometry @article{Shuib201777, title = {Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay}, author = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&partnerID=40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9}, issn = {01268635}, year = {2017}, date = {2017-01-01}, journal = {Malaysian Journal of Pathology}, volume = {39}, number = {1}, pages = {77-81}, publisher = {Malaysian Society of Pathologists}, abstract = {Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS. © 2017, Malaysian Society of Pathologists. All rights reserved.}, note = {cited By 0}, keywords = {Abnormalities, Agarose, Article, Autism, Autism Spectrum Disorders, Blood Culture, Case Report, Children, Chromosome 17, Chromosome Analysis, Chromosome Disorder, Chromosome Duplication, Chromosomes, Clinical Article, Comparative Genomic Hybridization, Developmental Delay, Electrophoresis, Female, Fluorescence, Fluorescence in Situ Hybridization, Gene, Gene Identification, Genetics, Genomic DNA, Human, In Situ Hybridization, Lymphocyte Culture, Microarray Analysis, Multiple, Multiple Malformation Syndrome, Pair 17, Phenotype, Potocki Lupski Syndrome, Preschool, Preschool Child, Procedures, RAI1 Gene, Ultraviolet Spectrophotometry}, pubstate = {published}, tppubtype = {article} } Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS. © 2017, Malaysian Society of Pathologists. All rights reserved. |
Bhagat, V; Haque, M; Simbak, N B; Husain, R Emotional regulation in autism spectrum disorders: A new proposed model for regulating emotions through parent education Journal Article Journal of Global Pharma Technology, 9 (7), pp. 32-43, 2017, ISSN: 09758542, (cited By 0). Abstract | Links | BibTeX | Tags: Adaptive Behavior, Amygdala, Autism, Awareness, Cognition, Comorbidity, Conceptual Framework, Cost Benefit Analysis, Education, Emotion, Emotional Disorder, Emotionality, Health Care, Health Promotion, Human, Impulsiveness, Learning, Motivation, Parent Education, Perception, Practice Guideline, Prefrontal Cortex, Prevalence, Problem Behavior, Psychoeducation, Psychological Well Being, Review, Sex Difference, Social Behaviour, Social Cognition, Social Competence, Social Learning @article{Bhagat201732, title = {Emotional regulation in autism spectrum disorders: A new proposed model for regulating emotions through parent education}, author = {V Bhagat and M Haque and N B Simbak and R Husain}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85021786235&partnerID=40&md5=ece2d7c28018f0c4526810e08e314461}, issn = {09758542}, year = {2017}, date = {2017-01-01}, journal = {Journal of Global Pharma Technology}, volume = {9}, number = {7}, pages = {32-43}, publisher = {Journal of Global Pharma Technology}, abstract = {Autism spectrum disorders (ASD) may affect all spheres of a child's life. One of the areas of the behavioral spectrum need to be focused is affected. Thus, the study is enthused in impaired emotional regulation (ER) affecting children with ASD. The significance of ER is related to that promoting adaptive behavior in children; indeed, disturbed ER in ASD children leads to emotional and behavioral problems. Commonly children with ASD lack adaptive ER strategies thus they react impulsively and inadequately to emotional stimuli thus it affects their psychological well-being. Though ER in ASD children is intrinsic the nurturing of these children with an understanding of ER can promote better psychological wellbeing. Thus, study objectives to examine a) the impact of ASD on their ER b) the impact of ER on the psychological wellbeing of children with ASD c) To develop awareness among these parents regarding the impact of ER on the psychological wellbeing of their ASD child. d) To propose a new model of parental education about ER and its significance on psychological wellbeing of ASD children. This study takes a base on the keenly examined past evidence on impaired ER in ASD children and its impact on the psychological wellbeing. Proposal for aiding ER through parental education has introduced. The conclusion drawn in this study is that the intervention can be more promising with educating parents regarding ER, may help their child to gain maximum from therapeutic intervention. The new proposed model of intervention extends the further scope for research in this regard. © 2009-2017, JGPT.}, note = {cited By 0}, keywords = {Adaptive Behavior, Amygdala, Autism, Awareness, Cognition, Comorbidity, Conceptual Framework, Cost Benefit Analysis, Education, Emotion, Emotional Disorder, Emotionality, Health Care, Health Promotion, Human, Impulsiveness, Learning, Motivation, Parent Education, Perception, Practice Guideline, Prefrontal Cortex, Prevalence, Problem Behavior, Psychoeducation, Psychological Well Being, Review, Sex Difference, Social Behaviour, Social Cognition, Social Competence, Social Learning}, pubstate = {published}, tppubtype = {article} } Autism spectrum disorders (ASD) may affect all spheres of a child's life. One of the areas of the behavioral spectrum need to be focused is affected. Thus, the study is enthused in impaired emotional regulation (ER) affecting children with ASD. The significance of ER is related to that promoting adaptive behavior in children; indeed, disturbed ER in ASD children leads to emotional and behavioral problems. Commonly children with ASD lack adaptive ER strategies thus they react impulsively and inadequately to emotional stimuli thus it affects their psychological well-being. Though ER in ASD children is intrinsic the nurturing of these children with an understanding of ER can promote better psychological wellbeing. Thus, study objectives to examine a) the impact of ASD on their ER b) the impact of ER on the psychological wellbeing of children with ASD c) To develop awareness among these parents regarding the impact of ER on the psychological wellbeing of their ASD child. d) To propose a new model of parental education about ER and its significance on psychological wellbeing of ASD children. This study takes a base on the keenly examined past evidence on impaired ER in ASD children and its impact on the psychological wellbeing. Proposal for aiding ER through parental education has introduced. The conclusion drawn in this study is that the intervention can be more promising with educating parents regarding ER, may help their child to gain maximum from therapeutic intervention. The new proposed model of intervention extends the further scope for research in this regard. © 2009-2017, JGPT. |
Hakim, N H A; Majlis, B Y; Suzuki, H; Tsukahara, T Neuron-specific splicing Journal Article BioScience Trends, 11 (1), pp. 16-22, 2017, ISSN: 18817815, (cited By 0). Abstract | Links | BibTeX | Tags: Alternative RNA Splicing, Alternative Splicing, Animals, Antibody Specificity, Biological, Biological Model, Diseases, Genetics, Human, Metabolism, Models, Nerve Cell, Neurons, Organ Specificity, RNA Splicing @article{Hakim201716, title = {Neuron-specific splicing}, author = {N H A Hakim and B Y Majlis and H Suzuki and T Tsukahara}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85014435502&doi=10.5582%2fbst.2016.01169&partnerID=40&md5=8a5044dbf3b905fc2553520a048bcd59}, doi = {10.5582/bst.2016.01169}, issn = {18817815}, year = {2017}, date = {2017-01-01}, journal = {BioScience Trends}, volume = {11}, number = {1}, pages = {16-22}, publisher = {International Advancement Center for Medicine and Health Research Co., Ltd.}, abstract = {During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons. Alternative splicing events are controlled by regulatory proteins responsible for both positive and negative regulation. In this review, we focus on neuronal splicing regulators and discuss several notable regulators in depth. In addition, we have also included an example of splicing regulation mediated by the RBFox protein family. Lastly, as previous studies have shown that a number of splicing factors are associated with neuronal diseases such as Alzheime's disease (AD) and Autism spectrum disorder (ASD), here we consider their importance in neuronal diseases wherein the underlying mechanisms have yet to be elucidated.}, note = {cited By 0}, keywords = {Alternative RNA Splicing, Alternative Splicing, Animals, Antibody Specificity, Biological, Biological Model, Diseases, Genetics, Human, Metabolism, Models, Nerve Cell, Neurons, Organ Specificity, RNA Splicing}, pubstate = {published}, tppubtype = {article} } During pre-mRNA splicing events, introns are removed from the pre-mRNA, and the remaining exons are connected together to form a single continuous molecule. Alternative splicing is a common mechanism for the regulation of gene expression in eukaryotes. More than 90% of human genes are known to undergo alternative splicing. The most common type of alternative splicing is exon skipping, which is also known as cassette exon. Other known alternative splicing events include alternative 5' splice sites, alternative 3' splice sites, intron retention, and mutually exclusive exons. Alternative splicing events are controlled by regulatory proteins responsible for both positive and negative regulation. In this review, we focus on neuronal splicing regulators and discuss several notable regulators in depth. In addition, we have also included an example of splicing regulation mediated by the RBFox protein family. Lastly, as previous studies have shown that a number of splicing factors are associated with neuronal diseases such as Alzheime's disease (AD) and Autism spectrum disorder (ASD), here we consider their importance in neuronal diseases wherein the underlying mechanisms have yet to be elucidated. |
2016 |
Ooi, K L; Ong, Y S; Jacob, S A; Khan, T M A meta-synthesis on parenting a child with autism Journal Article Neuropsychiatric Disease and Treatment, 12 , pp. 745-762, 2016, ISSN: 11766328, (cited By 44). Abstract | Links | BibTeX | Tags: Adaptation, Article, Attitude to Health, Attitude to Mental Illness, Autism, Child Care, Child Parent Relation, Childhood, Family, Family Centered Care, Health Care, Health Care Delivery, Health Education, Human, Parental Attitude, Parental Stress, Quality of Life, Social Aspect, Systematic Review, Wellbeing @article{Ooi2016745, title = {A meta-synthesis on parenting a child with autism}, author = {K L Ooi and Y S Ong and S A Jacob and T M Khan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84962625349&doi=10.2147%2fNDT.S100634&partnerID=40&md5=48b432dc361f8f3c373ed3b481e01e4c}, doi = {10.2147/NDT.S100634}, issn = {11766328}, year = {2016}, date = {2016-01-01}, journal = {Neuropsychiatric Disease and Treatment}, volume = {12}, pages = {745-762}, publisher = {Dove Medical Press Ltd.}, abstract = {Background: The lifelong nature of autism in a child has deep implications on parents as they are faced with a range of challenges and emotional consequences in raising the child. The aim of this meta-synthesis was to explore the perspectives of parents in raising a child with autism in the childhood period to gain an insight of the adaptations and beliefs of parents toward autism, their family and social experiences, as well as their perceptions toward health and educational services. Methods: A systematic search of six databases (PubMed, EMBASE, PsychInfo, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Database of Abstracts of Reviews of Effects [DARE]) was conducted from inception up to September 30, 2014. Full-text English articles of qualitative studies describing parents’ perceptions relating to the care of children younger than 12 years of age and diagnosed with a sole disorder of autism were included. Results: A total of 50 eligible articles were appraised and analyzed, identifying four core themes encompassing all thoughts, emotions, and experiences commonly expressed by parents: 1) The Parent, 2) Impact on the Family, 3) Social Impact, and 4) Health and Educational Services. Findings revealed that parents who have a child with autism experienced multiple challenges in different aspects of care, impacting on parents’ stress and adaptation. Conclusion: Health care provision should be family centered, addressing and supporting the needs of the whole family and not just the affected child, to ensure the family’s well-being and quality of life in the face of a diagnosis of autism. © 2016 Ooi et al.}, note = {cited By 44}, keywords = {Adaptation, Article, Attitude to Health, Attitude to Mental Illness, Autism, Child Care, Child Parent Relation, Childhood, Family, Family Centered Care, Health Care, Health Care Delivery, Health Education, Human, Parental Attitude, Parental Stress, Quality of Life, Social Aspect, Systematic Review, Wellbeing}, pubstate = {published}, tppubtype = {article} } Background: The lifelong nature of autism in a child has deep implications on parents as they are faced with a range of challenges and emotional consequences in raising the child. The aim of this meta-synthesis was to explore the perspectives of parents in raising a child with autism in the childhood period to gain an insight of the adaptations and beliefs of parents toward autism, their family and social experiences, as well as their perceptions toward health and educational services. Methods: A systematic search of six databases (PubMed, EMBASE, PsychInfo, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Database of Abstracts of Reviews of Effects [DARE]) was conducted from inception up to September 30, 2014. Full-text English articles of qualitative studies describing parents’ perceptions relating to the care of children younger than 12 years of age and diagnosed with a sole disorder of autism were included. Results: A total of 50 eligible articles were appraised and analyzed, identifying four core themes encompassing all thoughts, emotions, and experiences commonly expressed by parents: 1) The Parent, 2) Impact on the Family, 3) Social Impact, and 4) Health and Educational Services. Findings revealed that parents who have a child with autism experienced multiple challenges in different aspects of care, impacting on parents’ stress and adaptation. Conclusion: Health care provision should be family centered, addressing and supporting the needs of the whole family and not just the affected child, to ensure the family’s well-being and quality of life in the face of a diagnosis of autism. © 2016 Ooi et al. |
Sheppard, E; Pillai, D; Wong, G T -L; Ropar, D; Mitchell, P How Easy is it to Read the Minds of People with Autism Spectrum Disorder? Journal Article Journal of Autism and Developmental Disorders, 46 (4), pp. 1247-1254, 2016, ISSN: 01623257, (cited By 37). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Autism, Autism Spectrum Disorders, Decision Making, Emotion, Facial Expression, Female, Human, Male, Mental Health, Nonverbal Communication, Pathophysiology, Priority Journal, Psychology, Video Recording, Young Adult @article{Sheppard20161247, title = {How Easy is it to Read the Minds of People with Autism Spectrum Disorder?}, author = {E Sheppard and D Pillai and G T -L Wong and D Ropar and P Mitchell}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84961215349&doi=10.1007%2fs10803-015-2662-8&partnerID=40&md5=d39b6bdebe3c2f33e304eb4d4c09b6fd}, doi = {10.1007/s10803-015-2662-8}, issn = {01623257}, year = {2016}, date = {2016-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {46}, number = {4}, pages = {1247-1254}, publisher = {Springer New York LLC}, abstract = {How well can neurotypical adults’ interpret mental states in people with ASD? ‘Targets’ (ASD and neurotypical) reactions to four events were video-recorded then shown to neurotypical participants whose task was to identify which event the target had experienced. In study 1 participants were more successful for neurotypical than ASD targets. In study 2, participants rated ASD targets equally expressive as neurotypical targets for three of the events, while in study 3 participants gave different verbal descriptions of the reactions of ASD and neurotypical targets. It thus seems people with ASD react differently but not less expressively to events. Because neurotypicals are ineffective in interpreting the behaviour of those with ASD, this could contribute to the social difficulties in ASD. © 2015, Springer Science+Business Media New York.}, note = {cited By 37}, keywords = {Adolescent, Adult, Article, Autism, Autism Spectrum Disorders, Decision Making, Emotion, Facial Expression, Female, Human, Male, Mental Health, Nonverbal Communication, Pathophysiology, Priority Journal, Psychology, Video Recording, Young Adult}, pubstate = {published}, tppubtype = {article} } How well can neurotypical adults’ interpret mental states in people with ASD? ‘Targets’ (ASD and neurotypical) reactions to four events were video-recorded then shown to neurotypical participants whose task was to identify which event the target had experienced. In study 1 participants were more successful for neurotypical than ASD targets. In study 2, participants rated ASD targets equally expressive as neurotypical targets for three of the events, while in study 3 participants gave different verbal descriptions of the reactions of ASD and neurotypical targets. It thus seems people with ASD react differently but not less expressively to events. Because neurotypicals are ineffective in interpreting the behaviour of those with ASD, this could contribute to the social difficulties in ASD. © 2015, Springer Science+Business Media New York. |
2015 |
Gallagher, D; Voronova, A; Zander, M A; Cancino, G I; Bramall, A; Krause, M P; Abad, C; Tekin, M; Neilsen, P M; Callen, D F; Scherer, S W; Keller, G M; Kaplan, D R; Walz, K; Miller, F D Ankrd11 is a chromatin regulator involved in autism that is essential for neural development Journal Article Developmental Cell, 32 (1), pp. 31-42, 2015, ISSN: 15345807, (cited By 52). Abstract | Links | BibTeX | Tags: Acetylation, Animal Behavior, Animal Cell, Animals, Ankrd11 Protein, Ankyrin, Ankyrin Repeat Domain Containing Protein 11, Article, Autism, Autism Spectrum Disorders, Behaviour, Biological Marker, Blotting, Brain Cell Culture, Cell Culture, Cell Differentiation, Cell Proliferation, Cells, Chemistry, Chromatin, Chromatin Immunoprecipitation, Cultured, DNA Binding Protein, DNA Microarray, DNA-Binding Proteins, Enzyme Activity, Female, Gene, Gene Expression Profiling, Gene Targeting, Genetics, Histone, Histone Acetylation, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Histone Deacetylases, Histones, Human, Human Cell, Immunoprecipitation, Messenger, Messenger RNA, Metabolism, Mice, Mouse, Murinae, Mus, Nerve Cell Differentiation, Nervous System Development, Neurogenesis, Nonhuman, Oligonucleotide Array Sequence Analysis, Pathology, Phenotype, Physiology, Point Mutation, Post-Translational, Priority Journal, Protein Expression, Protein Processing, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Reverse Transcription Polymerase Chain Reaction, RNA, Small Interfering, Small Interfering RNA, Unclassified Drug, Western, Western Blotting @article{Gallagher201531, title = {Ankrd11 is a chromatin regulator involved in autism that is essential for neural development}, author = {D Gallagher and A Voronova and M A Zander and G I Cancino and A Bramall and M P Krause and C Abad and M Tekin and P M Neilsen and D F Callen and S W Scherer and G M Keller and D R Kaplan and K Walz and F D Miller}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84922343890&doi=10.1016%2fj.devcel.2014.11.031&partnerID=40&md5=ad7b8bd3ead790f092e1d8a276d4f25c}, doi = {10.1016/j.devcel.2014.11.031}, issn = {15345807}, year = {2015}, date = {2015-01-01}, journal = {Developmental Cell}, volume = {32}, number = {1}, pages = {31-42}, publisher = {Cell Press}, abstract = {Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. Here, we show that knockdown of Ankrd11 in developing murine or human cortical neural precursors caused decreased proliferation, reduced neurogenesis, andaberrant neuronal positioning. Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation inthe Ankrd11 HDAC-binding domain. Consistent with a role for Ankrd11 in histone acetylation, Ankrd11 was associated with chromatin and colocalized with HDAC3, and expression and histone acetylation of Ankrd11 target genes were altered in Yoda neural precursors. Moreover, the Ankrd11 knockdown-mediated decrease in precursor proliferation was rescued by inhibiting histone acetyltransferase activity or expressing HDAC3. Thus, Ankrd11 is a crucial chromatin regulator that controls histone acetylation and gene expression during neural development, thereby providing a likely explanation for its association with cognitive dysfunction and ASD. © 2015 Elsevier Inc.}, note = {cited By 52}, keywords = {Acetylation, Animal Behavior, Animal Cell, Animals, Ankrd11 Protein, Ankyrin, Ankyrin Repeat Domain Containing Protein 11, Article, Autism, Autism Spectrum Disorders, Behaviour, Biological Marker, Blotting, Brain Cell Culture, Cell Culture, Cell Differentiation, Cell Proliferation, Cells, Chemistry, Chromatin, Chromatin Immunoprecipitation, Cultured, DNA Binding Protein, DNA Microarray, DNA-Binding Proteins, Enzyme Activity, Female, Gene, Gene Expression Profiling, Gene Targeting, Genetics, Histone, Histone Acetylation, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Histone Deacetylases, Histones, Human, Human Cell, Immunoprecipitation, Messenger, Messenger RNA, Metabolism, Mice, Mouse, Murinae, Mus, Nerve Cell Differentiation, Nervous System Development, Neurogenesis, Nonhuman, Oligonucleotide Array Sequence Analysis, Pathology, Phenotype, Physiology, Point Mutation, Post-Translational, Priority Journal, Protein Expression, Protein Processing, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Reverse Transcription Polymerase Chain Reaction, RNA, Small Interfering, Small Interfering RNA, Unclassified Drug, Western, Western Blotting}, pubstate = {published}, tppubtype = {article} } Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. Here, we show that knockdown of Ankrd11 in developing murine or human cortical neural precursors caused decreased proliferation, reduced neurogenesis, andaberrant neuronal positioning. Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation inthe Ankrd11 HDAC-binding domain. Consistent with a role for Ankrd11 in histone acetylation, Ankrd11 was associated with chromatin and colocalized with HDAC3, and expression and histone acetylation of Ankrd11 target genes were altered in Yoda neural precursors. Moreover, the Ankrd11 knockdown-mediated decrease in precursor proliferation was rescued by inhibiting histone acetyltransferase activity or expressing HDAC3. Thus, Ankrd11 is a crucial chromatin regulator that controls histone acetylation and gene expression during neural development, thereby providing a likely explanation for its association with cognitive dysfunction and ASD. © 2015 Elsevier Inc. |
Haque, S; Haque, M Art therapy and autism Journal Article Asian Journal of Pharmaceutical and Clinical Research, 8 (6), pp. 202-203, 2015, ISSN: 09742441, (cited By 0). Links | BibTeX | Tags: Art Therapy, Article, Autism, Child Behaviour, Human, Human Relation, Interpersonal Communication, Nonverbal Communication, Social Interactions @article{Haque2015202, title = {Art therapy and autism}, author = {S Haque and M Haque}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84947426821&partnerID=40&md5=735d495bc1b2ce0c6370c265bb1a4802}, issn = {09742441}, year = {2015}, date = {2015-01-01}, journal = {Asian Journal of Pharmaceutical and Clinical Research}, volume = {8}, number = {6}, pages = {202-203}, publisher = {Asian Journal of Pharmaceutical and Clinical Research}, note = {cited By 0}, keywords = {Art Therapy, Article, Autism, Child Behaviour, Human, Human Relation, Interpersonal Communication, Nonverbal Communication, Social Interactions}, pubstate = {published}, tppubtype = {article} } |
Alwi, N; Harun, D; Leonard, J H Clinical application of sensory integration therapy for children with autism Journal Article Egyptian Journal of Medical Human Genetics, 16 (4), pp. 393-394, 2015, ISSN: 11108630, (cited By 1). Links | BibTeX | Tags: Autism, Disease Severity, Groups by Age, Human, Letter, Motor Performance, Outcome Assessment, Sensorimotor Integration, Therapy, Therapy Effect, Treatment Indication, Treatment Response @article{Alwi2015393, title = {Clinical application of sensory integration therapy for children with autism}, author = {N Alwi and D Harun and J H Leonard}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84940898525&doi=10.1016%2fj.ejmhg.2015.05.009&partnerID=40&md5=5548f0db22520a480f09da9aaf4c872e}, doi = {10.1016/j.ejmhg.2015.05.009}, issn = {11108630}, year = {2015}, date = {2015-01-01}, journal = {Egyptian Journal of Medical Human Genetics}, volume = {16}, number = {4}, pages = {393-394}, publisher = {Egyptian Society of Human Genetics}, note = {cited By 1}, keywords = {Autism, Disease Severity, Groups by Age, Human, Letter, Motor Performance, Outcome Assessment, Sensorimotor Integration, Therapy, Therapy Effect, Treatment Indication, Treatment Response}, pubstate = {published}, tppubtype = {article} } |
Khowaja, K; Salim, S S Heuristics to evaluate interactive systems for children with Autism Spectrum Disorder (ASD) Journal Article PLoS ONE, 10 (7), 2015, ISSN: 19326203, (cited By 12). Abstract | Links | BibTeX | Tags: Adult, Article, Autism, Autism Spectrum Disorders, Bibliographic Database, Children, Computer Interface, Computer Program, Controlled Study, Evaluation Study, Female, Heuristics, Human, Information System, Interactive System, Interrater Reliability, Male, Practice Guideline, Questionnaires, Software, Surveys @article{Khowaja2015, title = {Heuristics to evaluate interactive systems for children with Autism Spectrum Disorder (ASD)}, author = {K Khowaja and S S Salim}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84941313427&doi=10.1371%2fjournal.pone.0132187&partnerID=40&md5=60f3ee4a32fd71be4b842755a58527cf}, doi = {10.1371/journal.pone.0132187}, issn = {19326203}, year = {2015}, date = {2015-01-01}, journal = {PLoS ONE}, volume = {10}, number = {7}, publisher = {Public Library of Science}, abstract = {In this paper, we adapted and expanded a set of guidelines, also known as heuristics, to evaluate the usability of software to now be appropriate for software aimed at children with autism spectrum disorder (ASD). We started from the heuristics developed by Nielsen in 1990 and developed a modified set of 15 heuristics. The first 5 heuristics of this set are the same as those of the original Nielsen set, the next 5 heuristics are improved versions of Nielsen's, whereas the last 5 heuristics are new. We present two evaluation studies of our new heuristics. In the first, two groups compared Nielsen's set with the modified set of heuristics, with each group evaluating two interactive systems. The Nielsen's heuristics were assigned to the control group while the experimental group was given the modified set of heuristics, and a statistical analysis was conducted to determine the effectiveness of the modified set, the contribution of 5 new heuristics and the impact of 5 improved heuristics. The results show that the modified set is significantly more effective than the original, and we found a significant difference between the five improved heuristics and their corresponding heuristics in the original set. The five new heuristics are effective in problem identification using the modified set. The second study was conducted using a system which was developed to ascertain if the modified set was effective at identifying usability problems that could be fixed before the release of software. The post-study analysis revealed that the majority of the usability problems identified by the experts were fixed in the updated version of the system. © 2015 Khowaja, Salim.}, note = {cited By 12}, keywords = {Adult, Article, Autism, Autism Spectrum Disorders, Bibliographic Database, Children, Computer Interface, Computer Program, Controlled Study, Evaluation Study, Female, Heuristics, Human, Information System, Interactive System, Interrater Reliability, Male, Practice Guideline, Questionnaires, Software, Surveys}, pubstate = {published}, tppubtype = {article} } In this paper, we adapted and expanded a set of guidelines, also known as heuristics, to evaluate the usability of software to now be appropriate for software aimed at children with autism spectrum disorder (ASD). We started from the heuristics developed by Nielsen in 1990 and developed a modified set of 15 heuristics. The first 5 heuristics of this set are the same as those of the original Nielsen set, the next 5 heuristics are improved versions of Nielsen's, whereas the last 5 heuristics are new. We present two evaluation studies of our new heuristics. In the first, two groups compared Nielsen's set with the modified set of heuristics, with each group evaluating two interactive systems. The Nielsen's heuristics were assigned to the control group while the experimental group was given the modified set of heuristics, and a statistical analysis was conducted to determine the effectiveness of the modified set, the contribution of 5 new heuristics and the impact of 5 improved heuristics. The results show that the modified set is significantly more effective than the original, and we found a significant difference between the five improved heuristics and their corresponding heuristics in the original set. The five new heuristics are effective in problem identification using the modified set. The second study was conducted using a system which was developed to ascertain if the modified set was effective at identifying usability problems that could be fixed before the release of software. The post-study analysis revealed that the majority of the usability problems identified by the experts were fixed in the updated version of the system. © 2015 Khowaja, Salim. |
Alwi, N; Harun, D; Jh, L Multidisciplinary Parent Education for Caregivers of Children With Autism Spectrum Disorders (ASD): Implications for Clinical Practice Journal Article Archives of Psychiatric Nursing, 29 (1), pp. 5, 2015, ISSN: 08839417, (cited By 0). Links | BibTeX | Tags: Autism, Autism Spectrum Disorders, Caregiver, Child Development Disorders, Children, Human, Parents, Pervasive @article{Alwi20155, title = {Multidisciplinary Parent Education for Caregivers of Children With Autism Spectrum Disorders (ASD): Implications for Clinical Practice}, author = {N Alwi and D Harun and L Jh}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84921463937&doi=10.1016%2fj.apnu.2014.09.010&partnerID=40&md5=afc618a09a89f9461c587ab56a96559a}, doi = {10.1016/j.apnu.2014.09.010}, issn = {08839417}, year = {2015}, date = {2015-01-01}, journal = {Archives of Psychiatric Nursing}, volume = {29}, number = {1}, pages = {5}, publisher = {W.B. Saunders}, note = {cited By 0}, keywords = {Autism, Autism Spectrum Disorders, Caregiver, Child Development Disorders, Children, Human, Parents, Pervasive}, pubstate = {published}, tppubtype = {article} } |
2014 |
Bhat, S; Acharya, U R; Adeli, H; Bairy, G M; Adeli, A Autism: Cause factors, early diagnosis and therapies Journal Article Reviews in the Neurosciences, 25 (6), pp. 841-850, 2014, ISSN: 03341763, (cited By 52). Abstract | Links | BibTeX | Tags: 4 Aminobutyric Acid, Adolescent, Agenesis of Corpus Callosum, Animal Assisted Therapy, Anticonvulsive Agent, Article, Assistive Technology, Attention, Autism, Autism Spectrum Disorders, Behaviour Therapy, Biological Marker, Brain, Child Development Disorders, Children, Cognition, Cystine, Developmental Disorders, Diseases, Dolphin, Dolphin Assisted Therapy, DSM-5, Early Diagnosis, Emotion, Facial Expression, Functional Magnetic Resonance Imaging, Functional Neuroimaging, Gaze, Glutathione, Glutathione Disulfide, Human, Infant, Interpersonal Communication, Methionine, Nervous System Inflammation, Neurobiology, Neurofeedback, Oxidative Stress, Pervasive, Physiology, Preschool Child, Priority Journal, Psychoeducation, School Child, Social Interactions, Speech Therapy, Virtual Reality, Zonisamide @article{Bhat2014841, title = {Autism: Cause factors, early diagnosis and therapies}, author = {S Bhat and U R Acharya and H Adeli and G M Bairy and A Adeli}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84925284617&doi=10.1515%2frevneuro-2014-0056&partnerID=40&md5=caaa32e66af70e70ec325241d01564c9}, doi = {10.1515/revneuro-2014-0056}, issn = {03341763}, year = {2014}, date = {2014-01-01}, journal = {Reviews in the Neurosciences}, volume = {25}, number = {6}, pages = {841-850}, publisher = {Walter de Gruyter GmbH}, abstract = {Autism spectrum disorder (ASD) is a complex neurobiological disorder characterized by neuropsychological and behavioral deficits. Cognitive impairment, lack of social skills, and stereotyped behavior are the major autistic symptoms, visible after a certain age. It is one of the fastest growing disabilities. Its current prevalence rate in the U.S. estimated by the Centers for Disease Control and Prevention is 1 in 68 births. The genetic and physiological structure of the brain is studied to determine the pathology of autism, but diagnosis of autism at an early age is challenging due to the existing phenotypic and etiological heterogeneity among ASD individuals. Volumetric and neuroimaging techniques are explored to elucidate the neuroanatomy of the ASD brain. Nuroanatomical, neurochemical, and neuroimaging biomarkers can help in the early diagnosis and treatment of ASD. This paper presents a review of the types of autism, etiologies, early detection, and treatment of ASD. © 2014 Walter de Gruyter GmbH.}, note = {cited By 52}, keywords = {4 Aminobutyric Acid, Adolescent, Agenesis of Corpus Callosum, Animal Assisted Therapy, Anticonvulsive Agent, Article, Assistive Technology, Attention, Autism, Autism Spectrum Disorders, Behaviour Therapy, Biological Marker, Brain, Child Development Disorders, Children, Cognition, Cystine, Developmental Disorders, Diseases, Dolphin, Dolphin Assisted Therapy, DSM-5, Early Diagnosis, Emotion, Facial Expression, Functional Magnetic Resonance Imaging, Functional Neuroimaging, Gaze, Glutathione, Glutathione Disulfide, Human, Infant, Interpersonal Communication, Methionine, Nervous System Inflammation, Neurobiology, Neurofeedback, Oxidative Stress, Pervasive, Physiology, Preschool Child, Priority Journal, Psychoeducation, School Child, Social Interactions, Speech Therapy, Virtual Reality, Zonisamide}, pubstate = {published}, tppubtype = {article} } Autism spectrum disorder (ASD) is a complex neurobiological disorder characterized by neuropsychological and behavioral deficits. Cognitive impairment, lack of social skills, and stereotyped behavior are the major autistic symptoms, visible after a certain age. It is one of the fastest growing disabilities. Its current prevalence rate in the U.S. estimated by the Centers for Disease Control and Prevention is 1 in 68 births. The genetic and physiological structure of the brain is studied to determine the pathology of autism, but diagnosis of autism at an early age is challenging due to the existing phenotypic and etiological heterogeneity among ASD individuals. Volumetric and neuroimaging techniques are explored to elucidate the neuroanatomy of the ASD brain. Nuroanatomical, neurochemical, and neuroimaging biomarkers can help in the early diagnosis and treatment of ASD. This paper presents a review of the types of autism, etiologies, early detection, and treatment of ASD. © 2014 Walter de Gruyter GmbH. |
Bhat, S; Acharya, U R; Adeli, H; Bairy, G M; Adeli, A Automated diagnosis of autism: In search of a mathematical marker Journal Article Reviews in the Neurosciences, 25 (6), pp. 851-861, 2014, ISSN: 03341763, (cited By 34). Abstract | Links | BibTeX | Tags: Algorithms, Article, Autism, Autism Spectrum Disorders, Automation, Biological Model, Brain, Chaos Theory, Correlation Analysis, Detrended Fluctuation Analysis, Disease Marker, Electrode, Electroencephalogram, Electroencephalography, Entropy, Fourier Transformation, Fractal Analysis, Frequency Domain Analysis, Human, Mathematical Analysis, Mathematical Marker, Mathematical Parameters, Models, Neurologic Disease, Neurological, Nonlinear Dynamics, Nonlinear System, Pathophysiology, Priority Journal, Procedures, Signal Processing, Statistical Model, Time, Time Frequency Analysis, Wavelet Analysis @article{Bhat2014851, title = {Automated diagnosis of autism: In search of a mathematical marker}, author = {S Bhat and U R Acharya and H Adeli and G M Bairy and A Adeli}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84925286949&doi=10.1515%2frevneuro-2014-0036&partnerID=40&md5=04858a5c9860e9027e3113835ca2e11f}, doi = {10.1515/revneuro-2014-0036}, issn = {03341763}, year = {2014}, date = {2014-01-01}, journal = {Reviews in the Neurosciences}, volume = {25}, number = {6}, pages = {851-861}, publisher = {Walter de Gruyter GmbH}, abstract = {Autism is a type of neurodevelopmental disorder affecting the memory, behavior, emotion, learning ability, and communication of an individual. An early detection of the abnormality, due to irregular processing in the brain, can be achieved using electroencephalograms (EEG). The variations in the EEG signals cannot be deciphered by mere visual inspection. Computer-aided diagnostic tools can be used to recognize the subtle and invisible information present in the irregular EEG pattern and diagnose autism. This paper presents a state-of-theart review of automated EEG-based diagnosis of autism. Various time domain, frequency domain, time-frequency domain, and nonlinear dynamics for the analysis of autistic EEG signals are described briefly. A focus of the review is the use of nonlinear dynamics and chaos theory to discover the mathematical biomarkers for the diagnosis of the autism analogous to biological markers. A combination of the time-frequency and nonlinear dynamic analysis is the most effective approach to characterize the nonstationary and chaotic physiological signals for the automated EEGbased diagnosis of autism spectrum disorder (ASD). The features extracted using these nonlinear methods can be used as mathematical markers to detect the early stage of autism and aid the clinicians in their diagnosis. This will expedite the administration of appropriate therapies to treat the disorder. © 2014 Walter de Gruyter GmbH.}, note = {cited By 34}, keywords = {Algorithms, Article, Autism, Autism Spectrum Disorders, Automation, Biological Model, Brain, Chaos Theory, Correlation Analysis, Detrended Fluctuation Analysis, Disease Marker, Electrode, Electroencephalogram, Electroencephalography, Entropy, Fourier Transformation, Fractal Analysis, Frequency Domain Analysis, Human, Mathematical Analysis, Mathematical Marker, Mathematical Parameters, Models, Neurologic Disease, Neurological, Nonlinear Dynamics, Nonlinear System, Pathophysiology, Priority Journal, Procedures, Signal Processing, Statistical Model, Time, Time Frequency Analysis, Wavelet Analysis}, pubstate = {published}, tppubtype = {article} } Autism is a type of neurodevelopmental disorder affecting the memory, behavior, emotion, learning ability, and communication of an individual. An early detection of the abnormality, due to irregular processing in the brain, can be achieved using electroencephalograms (EEG). The variations in the EEG signals cannot be deciphered by mere visual inspection. Computer-aided diagnostic tools can be used to recognize the subtle and invisible information present in the irregular EEG pattern and diagnose autism. This paper presents a state-of-theart review of automated EEG-based diagnosis of autism. Various time domain, frequency domain, time-frequency domain, and nonlinear dynamics for the analysis of autistic EEG signals are described briefly. A focus of the review is the use of nonlinear dynamics and chaos theory to discover the mathematical biomarkers for the diagnosis of the autism analogous to biological markers. A combination of the time-frequency and nonlinear dynamic analysis is the most effective approach to characterize the nonstationary and chaotic physiological signals for the automated EEGbased diagnosis of autism spectrum disorder (ASD). The features extracted using these nonlinear methods can be used as mathematical markers to detect the early stage of autism and aid the clinicians in their diagnosis. This will expedite the administration of appropriate therapies to treat the disorder. © 2014 Walter de Gruyter GmbH. |
Cassidy, S; Ropar, D; Mitchell, P; Chapman, P Can adults with autism spectrum disorders infer what happened to someone from their emotional response? Journal Article Autism Research, 7 (1), pp. 112-123, 2014, ISSN: 19393792, (cited By 21). Abstract | Links | BibTeX | Tags: Accuracy, Adult, Aged, Article, Asperger Syndrome, Attention, Autism, Behaviour, Cacao, Child Development Disorders, Clinical Article, Concept Formation, Controlled Study, Deception, Discrimination (Psychology), Emotion, Eye Movement, Eye Tracking, Face Processing, Facial Expression, Female, Human, Interpersonal Relations, Male, Middle Aged, Money, Pervasive, Priority Journal, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Young Adult @article{Cassidy2014112, title = {Can adults with autism spectrum disorders infer what happened to someone from their emotional response?}, author = {S Cassidy and D Ropar and P Mitchell and P Chapman}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84894307909&doi=10.1002%2faur.1351&partnerID=40&md5=8c6736bc006e9eebde29427879d023c3}, doi = {10.1002/aur.1351}, issn = {19393792}, year = {2014}, date = {2014-01-01}, journal = {Autism Research}, volume = {7}, number = {1}, pages = {112-123}, publisher = {John Wiley and Sons Inc.}, abstract = {Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.}, note = {cited By 21}, keywords = {Accuracy, Adult, Aged, Article, Asperger Syndrome, Attention, Autism, Behaviour, Cacao, Child Development Disorders, Clinical Article, Concept Formation, Controlled Study, Deception, Discrimination (Psychology), Emotion, Eye Movement, Eye Tracking, Face Processing, Facial Expression, Female, Human, Interpersonal Relations, Male, Middle Aged, Money, Pervasive, Priority Journal, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Young Adult}, pubstate = {published}, tppubtype = {article} } Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Wiley Periodicals, Inc. |
Shobana, M; Saravanan, C Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability Journal Article East Asian Archives of Psychiatry, 24 (1), pp. 16-22, 2014, ISSN: 20789947, (cited By 6). Abstract | Links | BibTeX | Tags: Adult, Anxiety, Article, Attitude, Autism, Autism Spectrum Disorders, Children, Comparative Study, Depression, Developmental Disabilities, Developmental Disorders, Down Syndrome, Education, Female, General Health Questionnaire 28, Home Care, Hostility, Human, Intellectual Disability, Intellectual Impairment, Major Clinical Study, Malaysia, Male, Mental Disorders, Mother Child Relation, Mothers, Named Inventories, Parental Attitude, Parental Attitude Scale, Prevalence, Psychological Well Being, Questionnaires, Rating Scale, School Child, Social Disability @article{Shobana201416, title = {Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability}, author = {M Shobana and C Saravanan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898619897&partnerID=40&md5=e877e03b868d1a11ed8f859a33057d5d}, issn = {20789947}, year = {2014}, date = {2014-01-01}, journal = {East Asian Archives of Psychiatry}, volume = {24}, number = {1}, pages = {16-22}, publisher = {Hong Kong Academy of Medicine Press}, abstract = {Objective: Parents' positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers' attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers. Methods: In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Results: Overall, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Conclusion: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability. © 2014 Hong Kong College of Psychiatrists.}, note = {cited By 6}, keywords = {Adult, Anxiety, Article, Attitude, Autism, Autism Spectrum Disorders, Children, Comparative Study, Depression, Developmental Disabilities, Developmental Disorders, Down Syndrome, Education, Female, General Health Questionnaire 28, Home Care, Hostility, Human, Intellectual Disability, Intellectual Impairment, Major Clinical Study, Malaysia, Male, Mental Disorders, Mother Child Relation, Mothers, Named Inventories, Parental Attitude, Parental Attitude Scale, Prevalence, Psychological Well Being, Questionnaires, Rating Scale, School Child, Social Disability}, pubstate = {published}, tppubtype = {article} } Objective: Parents' positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers' attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers. Methods: In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Results: Overall, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Conclusion: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability. © 2014 Hong Kong College of Psychiatrists. |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). Abstract | Links | BibTeX | Tags: Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @article{Chen2014299, title = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, author = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&partnerID=40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, issn = {16618769}, year = {2014}, date = {2014-01-01}, journal = {Molecular Syndromology}, volume = {5}, number = {6}, pages = {299-303}, publisher = {S. Karger AG}, abstract = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, note = {cited By 4}, keywords = {Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {published}, tppubtype = {article} } Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
Nor, Z M; Yusof, S N; Ghazi, H F; Isa, Z M Does Bisphenol A contribute to autism spectrum disorder? Journal Article Current Topics in Toxicology, 10 , pp. 63-70, 2014, ISSN: 09728228, (cited By 1). Abstract | Links | BibTeX | Tags: 4' Isopropylidenediphenol, Article, Autism, Behaviour Change, Disease Association, Environmental Factor, First Pass Effect, Human, Population, Pregnancy, Prenatal Period @article{Nor201463, title = {Does Bisphenol A contribute to autism spectrum disorder?}, author = {Z M Nor and S N Yusof and H F Ghazi and Z M Isa}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84939185210&partnerID=40&md5=57e7aabc3aa2ec1ab51747608ab6a9b2}, issn = {09728228}, year = {2014}, date = {2014-01-01}, journal = {Current Topics in Toxicology}, volume = {10}, pages = {63-70}, publisher = {Research Trends}, abstract = {Autism Spectrum Disorder (ASD) includes a range of conditions classified as neurodevelopmental disorders that have an onset from infancy. Multiple factors have been identified as causes for the autism spectrum disorder; however, the cascade of the disease is still not clearly defined. An increasing number of cases have been reported globally, for instance in US, UK, Canada and Australia. Environmental factors were suspected to be one of the causes. Bisphenol A (BPA) is an Endocrine Disruptor Compound (EDC) and used primarily as a monomer for the production of polycarbonate and epoxy resins, especially in feeding bottles for infants. Ongoing discussions are currently in progress on the reported low-dose effects of BPA, particularly its neurodevelopmental and behavioural effects. Many countries have banned the usage of BPA due to its harmful effects on children. This review aims at presenting an overview of the association between exposure to BPA and the neurobehavioural changes it triggers in children. Articles were obtained from the Science Direct and ProQuest search engines. The keywords used in the search were 'BPA' or 'bisphenol A' and áutism'. Fourty-seven articles were shortlisted, of which only five that fulfilled the requisite criteria were selected for review. All of them were cohort studies. Overall, an association has been established between prenatal and childhood exposure to BPA and neurobehavioural changes. The exposure during pregnancy was observed to have a greater impact on children. Earlier exposure during the prenatal period resulted in stronger associations. However, no association was found between BPA concentration of the child and neurobehavioural outcomes.}, note = {cited By 1}, keywords = {4' Isopropylidenediphenol, Article, Autism, Behaviour Change, Disease Association, Environmental Factor, First Pass Effect, Human, Population, Pregnancy, Prenatal Period}, pubstate = {published}, tppubtype = {article} } Autism Spectrum Disorder (ASD) includes a range of conditions classified as neurodevelopmental disorders that have an onset from infancy. Multiple factors have been identified as causes for the autism spectrum disorder; however, the cascade of the disease is still not clearly defined. An increasing number of cases have been reported globally, for instance in US, UK, Canada and Australia. Environmental factors were suspected to be one of the causes. Bisphenol A (BPA) is an Endocrine Disruptor Compound (EDC) and used primarily as a monomer for the production of polycarbonate and epoxy resins, especially in feeding bottles for infants. Ongoing discussions are currently in progress on the reported low-dose effects of BPA, particularly its neurodevelopmental and behavioural effects. Many countries have banned the usage of BPA due to its harmful effects on children. This review aims at presenting an overview of the association between exposure to BPA and the neurobehavioural changes it triggers in children. Articles were obtained from the Science Direct and ProQuest search engines. The keywords used in the search were 'BPA' or 'bisphenol A' and áutism'. Fourty-seven articles were shortlisted, of which only five that fulfilled the requisite criteria were selected for review. All of them were cohort studies. Overall, an association has been established between prenatal and childhood exposure to BPA and neurobehavioural changes. The exposure during pregnancy was observed to have a greater impact on children. Earlier exposure during the prenatal period resulted in stronger associations. However, no association was found between BPA concentration of the child and neurobehavioural outcomes. |
Brett, M; McPherson, J; Zang, Z J; Lai, A; Tan, E -S; Ng, I; Ong, L -C; Cham, B; Tan, P; Rozen, S; Tan, E -C PLoS ONE, 9 (4), 2014, ISSN: 19326203, (cited By 20). Abstract | Links | BibTeX | Tags: Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism @article{Brett2014, title = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel}, author = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371%2fjournal.pone.0093409&partnerID=40&md5=f673e204a009bf84de81ea69dcd026db}, doi = {10.1371/journal.pone.0093409}, issn = {19326203}, year = {2014}, date = {2014-01-01}, journal = {PLoS ONE}, volume = {9}, number = {4}, publisher = {Public Library of Science}, abstract = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.}, note = {cited By 20}, keywords = {Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism}, pubstate = {published}, tppubtype = {article} } Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al. |
2013 |
Freeth, M; Sheppard, E; Ramachandran, R; Milne, E A cross-cultural comparison of autistic traits in the UK, India and Malaysia Journal Article Journal of Autism and Developmental Disorders, 43 (11), pp. 2569-2583, 2013, ISSN: 01623257, (cited By 39). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Asian Continental Ancestry Group, Attention, Autism, Autism Spectrum Disorders, Autism Spectrum Quotient, Communication Skills, Comparative Study, Cross-Cultural Comparison, Cultural Factor, Ethnicity, Female, Great Britain, Human, Human Experiment, Imagination, India, Indian, Malaysia, Male, Personality, Phenotype, Postgraduate Student, Priority Journal, Psychometry, Questionnaires, Sex Factors, Social Adaptation, Spectrum, Students, Undergraduate Student, United Kingdom, Young Adult @article{Freeth20132569, title = {A cross-cultural comparison of autistic traits in the UK, India and Malaysia}, author = {M Freeth and E Sheppard and R Ramachandran and E Milne}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84886802970&doi=10.1007%2fs10803-013-1808-9&partnerID=40&md5=d8acde51c0626be3862facc1d6bc493c}, doi = {10.1007/s10803-013-1808-9}, issn = {01623257}, year = {2013}, date = {2013-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {43}, number = {11}, pages = {2569-2583}, abstract = {The disorder of autism is widely recognised throughout the world. However, the diagnostic criteria and theories of autism are based on research predominantly conducted in Western cultures. Here we compare the expression of autistic traits in a sample of neurotypical individuals from one Western culture (UK) and two Eastern cultures (India and Malaysia), using the Autism-spectrum Quotient (AQ) in order to identify possible cultural differences in the expression of autistic traits. Behaviours associated with autistic traits were reported to a greater extent in the Eastern cultures than the Western culture. Males scored higher than females and science students scored higher than non-science students in each culture. Indian students scored higher than both other groups on the Imagination sub-scale, Malaysian students scored higher than both other groups on the Attention Switching sub-scale. The underlying factor structures of the AQ for each population were derived and discussed. © 2013 Springer Science+Business Media New York.}, note = {cited By 39}, keywords = {Adolescent, Adult, Article, Asian Continental Ancestry Group, Attention, Autism, Autism Spectrum Disorders, Autism Spectrum Quotient, Communication Skills, Comparative Study, Cross-Cultural Comparison, Cultural Factor, Ethnicity, Female, Great Britain, Human, Human Experiment, Imagination, India, Indian, Malaysia, Male, Personality, Phenotype, Postgraduate Student, Priority Journal, Psychometry, Questionnaires, Sex Factors, Social Adaptation, Spectrum, Students, Undergraduate Student, United Kingdom, Young Adult}, pubstate = {published}, tppubtype = {article} } The disorder of autism is widely recognised throughout the world. However, the diagnostic criteria and theories of autism are based on research predominantly conducted in Western cultures. Here we compare the expression of autistic traits in a sample of neurotypical individuals from one Western culture (UK) and two Eastern cultures (India and Malaysia), using the Autism-spectrum Quotient (AQ) in order to identify possible cultural differences in the expression of autistic traits. Behaviours associated with autistic traits were reported to a greater extent in the Eastern cultures than the Western culture. Males scored higher than females and science students scored higher than non-science students in each culture. Indian students scored higher than both other groups on the Imagination sub-scale, Malaysian students scored higher than both other groups on the Attention Switching sub-scale. The underlying factor structures of the AQ for each population were derived and discussed. © 2013 Springer Science+Business Media New York. |
Khowaja, K; Salim, S S A systematic review of strategies and computer-based intervention (CBI) for reading comprehension of children with autism Journal Article Research in Autism Spectrum Disorders, 7 (9), pp. 1111-1121, 2013, ISSN: 17509467, (cited By 28). Abstract | Links | BibTeX | Tags: Attention, Autism, Bibliographic Database, Children, Clinical Effectiveness, Clinical Observation, Cognition, Comprehension, Computer Assisted Therapy, Computer Based Intervention, Explicit Memory, Human, Learning, Linguistics, Motivation, Multimedia, Pretest Posttest Design, Priority Journal, Reading, Reading Comprehension, Review, Systematic Review, Treatment Outcome @article{Khowaja20131111, title = {A systematic review of strategies and computer-based intervention (CBI) for reading comprehension of children with autism}, author = {K Khowaja and S S Salim}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84879609907&doi=10.1016%2fj.rasd.2013.05.009&partnerID=40&md5=6ba3e9315ee8b3cecb6248b97198313d}, doi = {10.1016/j.rasd.2013.05.009}, issn = {17509467}, year = {2013}, date = {2013-01-01}, journal = {Research in Autism Spectrum Disorders}, volume = {7}, number = {9}, pages = {1111-1121}, abstract = {This paper presents a systematic review of relevant published studies on reading comprehension for children with autism, focusing on vocabulary instruction and text comprehension instruction from years 2000 to 2011. This systematic review attempts to address three specific research questions: strategies of vocabulary instruction and text comprehension instruction used, computer-based intervention (CBI) used or developed during study, and the effectiveness of using CBI for teaching children with autism. There are five strategies of vocabulary instruction and seven strategies of text comprehension instruction. Results indicate that two strategies of vocabulary instruction, multimedia methods and explicit instruction were found to be more commonly used than the other three. On the same note, question answering strategy of text comprehension instruction was discovered to be used more often than the other six. Results also indicate that children with autism can benefit from the strategies of reading comprehension and that the use of CBI as a mode of instruction for reading comprehension improved learning of children. This is clearly evident judging from the performance of children between pre-tests and post-tests of studies in which CBI was used. However, due to heterogeneity of participants, this is not always the case; a few studies reported no improvement in the learning of children with autism. © 2013 Elsevier Ltd. Allrights reserved.}, note = {cited By 28}, keywords = {Attention, Autism, Bibliographic Database, Children, Clinical Effectiveness, Clinical Observation, Cognition, Comprehension, Computer Assisted Therapy, Computer Based Intervention, Explicit Memory, Human, Learning, Linguistics, Motivation, Multimedia, Pretest Posttest Design, Priority Journal, Reading, Reading Comprehension, Review, Systematic Review, Treatment Outcome}, pubstate = {published}, tppubtype = {article} } This paper presents a systematic review of relevant published studies on reading comprehension for children with autism, focusing on vocabulary instruction and text comprehension instruction from years 2000 to 2011. This systematic review attempts to address three specific research questions: strategies of vocabulary instruction and text comprehension instruction used, computer-based intervention (CBI) used or developed during study, and the effectiveness of using CBI for teaching children with autism. There are five strategies of vocabulary instruction and seven strategies of text comprehension instruction. Results indicate that two strategies of vocabulary instruction, multimedia methods and explicit instruction were found to be more commonly used than the other three. On the same note, question answering strategy of text comprehension instruction was discovered to be used more often than the other six. Results also indicate that children with autism can benefit from the strategies of reading comprehension and that the use of CBI as a mode of instruction for reading comprehension improved learning of children. This is clearly evident judging from the performance of children between pre-tests and post-tests of studies in which CBI was used. However, due to heterogeneity of participants, this is not always the case; a few studies reported no improvement in the learning of children with autism. © 2013 Elsevier Ltd. Allrights reserved. |
Mousavizadeh, K; Askari, M; Arian, H; Gorjipour, F; Nikpour, A R; Tavafjadid, M; Aryani, O; Kamalidehghan, B; Maroof, H R; Houshmand, M Association of human mtDNA mutations with autism in Iranian patients Journal Article Journal of Research in Medical Sciences, 18 (10), pp. 926, 2013, ISSN: 17351995, (cited By 2). Links | BibTeX | Tags: Autism, Clinical Article, Controlled Study, Gene, Gene Frequency, Gene Mutation, Gene Sequence, Genetic Association, Genetic Risk, Human, Letter, Mitochondrial DNA, Molecular Phylogeny, Pathophysiology, Point Mutation, Polymerase Chain Reaction @article{Mousavizadeh2013926, title = {Association of human mtDNA mutations with autism in Iranian patients}, author = {K Mousavizadeh and M Askari and H Arian and F Gorjipour and A R Nikpour and M Tavafjadid and O Aryani and B Kamalidehghan and H R Maroof and M Houshmand}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84887270916&partnerID=40&md5=3922601b0364489a2b76d620316cc150}, issn = {17351995}, year = {2013}, date = {2013-01-01}, journal = {Journal of Research in Medical Sciences}, volume = {18}, number = {10}, pages = {926}, publisher = {Isfahan University of Medical Sciences(IUMS)}, note = {cited By 2}, keywords = {Autism, Clinical Article, Controlled Study, Gene, Gene Frequency, Gene Mutation, Gene Sequence, Genetic Association, Genetic Risk, Human, Letter, Mitochondrial DNA, Molecular Phylogeny, Pathophysiology, Point Mutation, Polymerase Chain Reaction}, pubstate = {published}, tppubtype = {article} } |
Selvaraj, J; Murugappan, M; Wan, K; Yaacob, S Classification of emotional states from electrocardiogram signals: A non-linear approach based on hurst Journal Article BioMedical Engineering Online, 12 (1), 2013, ISSN: 1475925X, (cited By 42). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Aged, Article, Audio-Visual Stimulus, Autonomous Nervous Systems, Children, Classification Accuracy, Computer Based Training, Computer-Assisted, Electrocardiogram Signal, Electrocardiography, Emotion, Female, Fuzzy K-nearest Neighbor, Higher-Order Statistic (HOS), Human, Intellectual Disability, Interactive Computer Systems, Methodology, Middle Aged, Nonlinear Dynamics, Nonlinear System, Procedures, Real Time Systems, Signal Processing, Statistics, Young Adult @article{Selvaraj2013, title = {Classification of emotional states from electrocardiogram signals: A non-linear approach based on hurst}, author = {J Selvaraj and M Murugappan and K Wan and S Yaacob}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84879017985&doi=10.1186%2f1475-925X-12-44&partnerID=40&md5=18c5309ac9f3017f455480f1ff732a30}, doi = {10.1186/1475-925X-12-44}, issn = {1475925X}, year = {2013}, date = {2013-01-01}, journal = {BioMedical Engineering Online}, volume = {12}, number = {1}, publisher = {BioMed Central Ltd.}, abstract = {Background: Identifying the emotional state is helpful in applications involving patients with autism and other intellectual disabilities; computer-based training, human computer interaction etc. Electrocardiogram (ECG) signals, being an activity of the autonomous nervous system (ANS), reflect the underlying true emotional state of a person. However, the performance of various methods developed so far lacks accuracy, and more robust methods need to be developed to identify the emotional pattern associated with ECG signals.Methods: Emotional ECG data was obtained from sixty participants by inducing the six basic emotional states (happiness, sadness, fear, disgust, surprise and neutral) using audio-visual stimuli. The non-linear feature 'Hurst' was computed using Rescaled Range Statistics (RRS) and Finite Variance Scaling (FVS) methods. New Hurst features were proposed by combining the existing RRS and FVS methods with Higher Order Statistics (HOS). The features were then classified using four classifiers - Bayesian Classifier, Regression Tree, K- nearest neighbor and Fuzzy K-nearest neighbor. Seventy percent of the features were used for training and thirty percent for testing the algorithm.Results: Analysis of Variance (ANOVA) conveyed that Hurst and the proposed features were statistically significant (p < 0.001). Hurst computed using RRS and FVS methods showed similar classification accuracy. The features obtained by combining FVS and HOS performed better with a maximum accuracy of 92.87% and 76.45% for classifying the six emotional states using random and subject independent validation respectively.Conclusions: The results indicate that the combination of non-linear analysis and HOS tend to capture the finer emotional changes that can be seen in healthy ECG data. This work can be further fine tuned to develop a real time system. © 2013 Selvaraj et al.; licensee BioMed Central Ltd.}, note = {cited By 42}, keywords = {Adolescent, Adult, Aged, Article, Audio-Visual Stimulus, Autonomous Nervous Systems, Children, Classification Accuracy, Computer Based Training, Computer-Assisted, Electrocardiogram Signal, Electrocardiography, Emotion, Female, Fuzzy K-nearest Neighbor, Higher-Order Statistic (HOS), Human, Intellectual Disability, Interactive Computer Systems, Methodology, Middle Aged, Nonlinear Dynamics, Nonlinear System, Procedures, Real Time Systems, Signal Processing, Statistics, Young Adult}, pubstate = {published}, tppubtype = {article} } Background: Identifying the emotional state is helpful in applications involving patients with autism and other intellectual disabilities; computer-based training, human computer interaction etc. Electrocardiogram (ECG) signals, being an activity of the autonomous nervous system (ANS), reflect the underlying true emotional state of a person. However, the performance of various methods developed so far lacks accuracy, and more robust methods need to be developed to identify the emotional pattern associated with ECG signals.Methods: Emotional ECG data was obtained from sixty participants by inducing the six basic emotional states (happiness, sadness, fear, disgust, surprise and neutral) using audio-visual stimuli. The non-linear feature 'Hurst' was computed using Rescaled Range Statistics (RRS) and Finite Variance Scaling (FVS) methods. New Hurst features were proposed by combining the existing RRS and FVS methods with Higher Order Statistics (HOS). The features were then classified using four classifiers - Bayesian Classifier, Regression Tree, K- nearest neighbor and Fuzzy K-nearest neighbor. Seventy percent of the features were used for training and thirty percent for testing the algorithm.Results: Analysis of Variance (ANOVA) conveyed that Hurst and the proposed features were statistically significant (p < 0.001). Hurst computed using RRS and FVS methods showed similar classification accuracy. The features obtained by combining FVS and HOS performed better with a maximum accuracy of 92.87% and 76.45% for classifying the six emotional states using random and subject independent validation respectively.Conclusions: The results indicate that the combination of non-linear analysis and HOS tend to capture the finer emotional changes that can be seen in healthy ECG data. This work can be further fine tuned to develop a real time system. © 2013 Selvaraj et al.; licensee BioMed Central Ltd. |
Modugumudi, Y R; Santhosh, J; Anand, S Efficacy of collaborative virtual environment intervention programs in emotion expression of children with autism Journal Article Journal of Medical Imaging and Health Informatics, 3 (2), pp. 321-325, 2013, ISSN: 21567018, (cited By 4). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Autism, Children, Clinical Article, Collaborative Virtual Environment, Controlled Study, DSM-IV, Electroencephalogram, Electroencephalography, Electrooculogram, Emotion, Environment, Event Related Potential, Facial Expression, Female, Human, Latent Period, Male, Recognition, School Child @article{Modugumudi2013321, title = {Efficacy of collaborative virtual environment intervention programs in emotion expression of children with autism}, author = {Y R Modugumudi and J Santhosh and S Anand}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84881262807&doi=10.1166%2fjmihi.2013.1167&partnerID=40&md5=c8e767c8eba2bbbec5ff36a43eb59af6}, doi = {10.1166/jmihi.2013.1167}, issn = {21567018}, year = {2013}, date = {2013-01-01}, journal = {Journal of Medical Imaging and Health Informatics}, volume = {3}, number = {2}, pages = {321-325}, abstract = {Exploratory empirical studies on Collaborative Virtual Environments (CVEs) were conducted to determine if children with autism could make basic emotional recognition effectively, with the use of CVEs as assistive technology. In this paper we report the results of electro-physiological study of two groups of autistic children after an intervention program with and without using Collaborative Virtual Environment. The group trained with CVE showed better results compared to the group trained without Collaborative virtual Environment. There is an emphasized early emotion expression positivity component at around 120 ms latency for CVE trained group which clearly distinguishes the CVE untrained group. Also there are differences observed in Event Related Potential component at about 170 ms latency after the stimulus. Results indicate that the Collaborative Virtual Environments are effective in training Autistic children. © 2013 American Scientific Publishers.}, note = {cited By 4}, keywords = {Adolescent, Adult, Article, Autism, Children, Clinical Article, Collaborative Virtual Environment, Controlled Study, DSM-IV, Electroencephalogram, Electroencephalography, Electrooculogram, Emotion, Environment, Event Related Potential, Facial Expression, Female, Human, Latent Period, Male, Recognition, School Child}, pubstate = {published}, tppubtype = {article} } Exploratory empirical studies on Collaborative Virtual Environments (CVEs) were conducted to determine if children with autism could make basic emotional recognition effectively, with the use of CVEs as assistive technology. In this paper we report the results of electro-physiological study of two groups of autistic children after an intervention program with and without using Collaborative Virtual Environment. The group trained with CVE showed better results compared to the group trained without Collaborative virtual Environment. There is an emphasized early emotion expression positivity component at around 120 ms latency for CVE trained group which clearly distinguishes the CVE untrained group. Also there are differences observed in Event Related Potential component at about 170 ms latency after the stimulus. Results indicate that the Collaborative Virtual Environments are effective in training Autistic children. © 2013 American Scientific Publishers. |
Assaf, M; Hyatt, C J; Wong, C G; Johnson, M R; Schultz, R T; Hendler, T; Pearlson, G D Mentalizing and motivation neural function during social interactions in autism spectrum disorders Journal Article NeuroImage: Clinical, 3 , pp. 321-331, 2013, ISSN: 22131582, (cited By 28). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Autism, Brain Function, Children, Computer, Controlled Study, Female, Functional Magnetic Resonance Imaging, Games, Groups by Age, Human, Major Clinical Study, Male, Mental Capacity, Middle Temporal Gyrus, Motivation, Motor Performance, Nerve Cell, Nerve Function, Nucleus Accumbens, Priority Journal, Punishment, Reward, School Child, Social Cognition, Social Environment, Social Interactions, Task Performance, Theory of Mind, Vision @article{Assaf2013321, title = {Mentalizing and motivation neural function during social interactions in autism spectrum disorders}, author = {M Assaf and C J Hyatt and C G Wong and M R Johnson and R T Schultz and T Hendler and G D Pearlson}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84885394367&doi=10.1016%2fj.nicl.2013.09.005&partnerID=40&md5=b63630c997b658167792266e40e855b6}, doi = {10.1016/j.nicl.2013.09.005}, issn = {22131582}, year = {2013}, date = {2013-01-01}, journal = {NeuroImage: Clinical}, volume = {3}, pages = {321-331}, abstract = {Autism Spectrum Disorders (ASDs) are characterized by core deficits in social functions. Two theories have been suggested to explain these deficits: mind-blindness theory posits impaired mentalizing processes (i.e. decreased ability for establishing a representation of others' state of mind), while social motivation theory proposes that diminished reward value for social information leads to reduced social attention, social interactions, and social learning. Mentalizing and motivation are integral to typical social interactions, and neuroimaging evidence points to independent brain networks that support these processes in healthy individuals. However, the simultaneous function of these networks has not been explored in individuals with ASDs. We used a social, interactive fMRI task, the Domino game, to explore mentalizing- and motivation-related brain activation during a well-defined interval where participants respond to rewards or punishments (i.e. motivation) and concurrently process information about their opponent's potential next actions (i.e. mentalizing). Thirteen individuals with high-functioning ASDs, ages 12-24, and 14 healthy controls played fMRI Domino games against a computer-opponent and separately, what they were led to believe was a human-opponent. Results showed that while individuals with ASDs understood the game rules and played similarly to controls, they showed diminished neural activity during the human-opponent runs only (i.e. in a social context) in bilateral middle temporal gyrus (MTG) during mentalizing and right Nucleus Accumbens (NAcc) during reward-related motivation (Pcluster < 0.05 FWE). Importantly, deficits were not observed in these areas when playing against a computer-opponent or in areas related to motor and visual processes. These results demonstrate that while MTG and NAcc, which are critical structures in the mentalizing and motivation networks, respectively, activate normally in a non-social context, they fail to respond in an otherwise identical social context in ASD compared to controls. We discuss implications to both the mind-blindness and social motivation theories of ASD and the importance of social context in research and treatment protocols. © 2013 The Authors.}, note = {cited By 28}, keywords = {Adolescent, Adult, Article, Autism, Brain Function, Children, Computer, Controlled Study, Female, Functional Magnetic Resonance Imaging, Games, Groups by Age, Human, Major Clinical Study, Male, Mental Capacity, Middle Temporal Gyrus, Motivation, Motor Performance, Nerve Cell, Nerve Function, Nucleus Accumbens, Priority Journal, Punishment, Reward, School Child, Social Cognition, Social Environment, Social Interactions, Task Performance, Theory of Mind, Vision}, pubstate = {published}, tppubtype = {article} } Autism Spectrum Disorders (ASDs) are characterized by core deficits in social functions. Two theories have been suggested to explain these deficits: mind-blindness theory posits impaired mentalizing processes (i.e. decreased ability for establishing a representation of others' state of mind), while social motivation theory proposes that diminished reward value for social information leads to reduced social attention, social interactions, and social learning. Mentalizing and motivation are integral to typical social interactions, and neuroimaging evidence points to independent brain networks that support these processes in healthy individuals. However, the simultaneous function of these networks has not been explored in individuals with ASDs. We used a social, interactive fMRI task, the Domino game, to explore mentalizing- and motivation-related brain activation during a well-defined interval where participants respond to rewards or punishments (i.e. motivation) and concurrently process information about their opponent's potential next actions (i.e. mentalizing). Thirteen individuals with high-functioning ASDs, ages 12-24, and 14 healthy controls played fMRI Domino games against a computer-opponent and separately, what they were led to believe was a human-opponent. Results showed that while individuals with ASDs understood the game rules and played similarly to controls, they showed diminished neural activity during the human-opponent runs only (i.e. in a social context) in bilateral middle temporal gyrus (MTG) during mentalizing and right Nucleus Accumbens (NAcc) during reward-related motivation (Pcluster < 0.05 FWE). Importantly, deficits were not observed in these areas when playing against a computer-opponent or in areas related to motor and visual processes. These results demonstrate that while MTG and NAcc, which are critical structures in the mentalizing and motivation networks, respectively, activate normally in a non-social context, they fail to respond in an otherwise identical social context in ASD compared to controls. We discuss implications to both the mind-blindness and social motivation theories of ASD and the importance of social context in research and treatment protocols. © 2013 The Authors. |
2012 |
Clark, M; Brown, R; Karrapaya, R An initial look at the quality of life of Malaysian families that include children with disabilities Journal Article Journal of Intellectual Disability Research, 56 (1), pp. 45-60, 2012, ISSN: 09642633, (cited By 16). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Autism, Caregiver, Cerebral Palsy, Children, Cost of Illness, Cross-Cultural Comparison, Developmental Disabilities, Developmental Disorders, Disabled Children, Down Syndrome, Family, Family Health, Female, Health Care, Health Care Delivery, Health Survey, Human, Intellectual Disability, Intellectual Impairment, Life Satisfaction, Malaysia, Male, Parents, Policy, Preschool, Preschool Child, Psychometrics, Quality of Life, Questionnaires, School Child, Social Support, Socioeconomic Factors @article{Clark201245, title = {An initial look at the quality of life of Malaysian families that include children with disabilities}, author = {M Clark and R Brown and R Karrapaya}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-83855165819&doi=10.1111%2fj.1365-2788.2011.01408.x&partnerID=40&md5=4822406179501d1b0b93c5374e383637}, doi = {10.1111/j.1365-2788.2011.01408.x}, issn = {09642633}, year = {2012}, date = {2012-01-01}, journal = {Journal of Intellectual Disability Research}, volume = {56}, number = {1}, pages = {45-60}, abstract = {Background While there is a growing body of literature in the quality of life of families that include children with disabilities, the majority of research has been conducted in western countries. The present study provides an initial exploration of the quality of life of Malaysian families that include children with developmental/intellectual disabilities. Dynamics characterising Malaysian society are described as developments in social policy and service delivery that support persons with disabilities and their families. Method Questionnaire data were collected using the Family Quality of Life Survey - Short Version. Members of 52 families that included one or two children with disabilities were interviewed. Their responses provided their perceptions within six dimensions of family quality of life across the nine life domains assessed. Results Findings showed a consistent pattern of relatively strong perceived ímportance' ratings in each of life domains as compared to mean ratings for other family quality of life dimensions. Some dimensions of family quality of life, in particular ópportunities', ínitiative' and áttainment', demonstrated particularly strong associations with each other. Overall means of satisfaction with and attainment of family quality of life as well as global evaluations of quality of life and satisfaction all demonstrated significant associations, although each of these correlations accounted for less than 50% of the common variance. Conclusions The importance rating can be viewed as a determining factor in terms of quality of life, and it played a critical role in supporting attainment of, and satisfaction with, family quality of life, assuming opportunities, initiative and stability are adequate. The need for a broader sample including families that were not receiving services was noted. Future research questions based on the results of the current study and some of the dynamics impacting Malaysian society are also suggested. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.}, note = {cited By 16}, keywords = {Adolescent, Adult, Article, Autism, Caregiver, Cerebral Palsy, Children, Cost of Illness, Cross-Cultural Comparison, Developmental Disabilities, Developmental Disorders, Disabled Children, Down Syndrome, Family, Family Health, Female, Health Care, Health Care Delivery, Health Survey, Human, Intellectual Disability, Intellectual Impairment, Life Satisfaction, Malaysia, Male, Parents, Policy, Preschool, Preschool Child, Psychometrics, Quality of Life, Questionnaires, School Child, Social Support, Socioeconomic Factors}, pubstate = {published}, tppubtype = {article} } Background While there is a growing body of literature in the quality of life of families that include children with disabilities, the majority of research has been conducted in western countries. The present study provides an initial exploration of the quality of life of Malaysian families that include children with developmental/intellectual disabilities. Dynamics characterising Malaysian society are described as developments in social policy and service delivery that support persons with disabilities and their families. Method Questionnaire data were collected using the Family Quality of Life Survey - Short Version. Members of 52 families that included one or two children with disabilities were interviewed. Their responses provided their perceptions within six dimensions of family quality of life across the nine life domains assessed. Results Findings showed a consistent pattern of relatively strong perceived ímportance' ratings in each of life domains as compared to mean ratings for other family quality of life dimensions. Some dimensions of family quality of life, in particular ópportunities', ínitiative' and áttainment', demonstrated particularly strong associations with each other. Overall means of satisfaction with and attainment of family quality of life as well as global evaluations of quality of life and satisfaction all demonstrated significant associations, although each of these correlations accounted for less than 50% of the common variance. Conclusions The importance rating can be viewed as a determining factor in terms of quality of life, and it played a critical role in supporting attainment of, and satisfaction with, family quality of life, assuming opportunities, initiative and stability are adequate. The need for a broader sample including families that were not receiving services was noted. Future research questions based on the results of the current study and some of the dynamics impacting Malaysian society are also suggested. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd. |
Salih, M R M; Bahari, M B; Hassali, M A A; Shafie, A A; Al-Lela, O Q B; Abd, A Y; Ganesan, V M Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy Journal Article Journal of Neurosciences in Rural Practice, 3 (3), pp. 244-250, 2012, ISSN: 09763147, (cited By 1). Abstract | Links | BibTeX | Tags: Adolescent, Anticonvulsive Agent, Article, Autism, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Children, Chinese, Clonazepam, Cohort Analysis, Congenital Toxoplasmosis, Controlled Study, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Developmental Disorders, Disorders of Mitochondrial Functions, Down Syndrome, Epilepsy, Ethnicity, Etiracetam, Female, Focal Epilepsy, Happy Puppet Syndrome, Human, Hydrocephalus, Indian, Intellectual Impairment, Lamotrigine, Major Clinical Study, Malay, Male, Medical Record, Microcephaly, Monotherapy, Preschool Child, Priority Journal, Retrospective Study, School Child, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease @article{Salih2012244, title = {Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy}, author = {M R M Salih and M B Bahari and M A A Hassali and A A Shafie and O Q B Al-Lela and A Y Abd and V M Ganesan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870233746&doi=10.4103%2f0976-3147.102596&partnerID=40&md5=039bd22d6c38366ebfdd00a4254c20f0}, doi = {10.4103/0976-3147.102596}, issn = {09763147}, year = {2012}, date = {2012-01-01}, journal = {Journal of Neurosciences in Rural Practice}, volume = {3}, number = {3}, pages = {244-250}, abstract = {Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural-metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.}, note = {cited By 1}, keywords = {Adolescent, Anticonvulsive Agent, Article, Autism, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Children, Chinese, Clonazepam, Cohort Analysis, Congenital Toxoplasmosis, Controlled Study, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Developmental Disorders, Disorders of Mitochondrial Functions, Down Syndrome, Epilepsy, Ethnicity, Etiracetam, Female, Focal Epilepsy, Happy Puppet Syndrome, Human, Hydrocephalus, Indian, Intellectual Impairment, Lamotrigine, Major Clinical Study, Malay, Male, Medical Record, Microcephaly, Monotherapy, Preschool Child, Priority Journal, Retrospective Study, School Child, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease}, pubstate = {published}, tppubtype = {article} } Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural-metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients. |
Tan, E H; Razak, S A; Abdullah, J M; Yusoff, Mohamed A A De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+) Journal Article Epilepsy Research, 102 (3), pp. 210-215, 2012, ISSN: 09201211, (cited By 2). Abstract | Links | BibTeX | Tags: Alanine, Amino Acid Substitution, Arginine, Article, Asparagine, Aspartic Acid, Children, Clinical Article, Clinical Feature, Controlled Study, Disease Association, DNA Mutational Analysis, DNA Sequence, Electroencephalography, Epilepsy, Febrile, Febrile Convulsion, Female, Gene, Gene Frequency, Gene Identification, Generalized, Generalized Epilepsy, Genetic Association, Genetic Predisposition, Genetic Screening, Genetic Variability, Glycine, Histidine, Human, Infant, Malaysia, Male, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polymorphism, Preschool Child, Priority Journal, Promoter Region, School Child, Seizure, Sequence Analysis, Single Nucleotide, Single Nucleotide Polymorphism, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene @article{Tan2012210, title = {De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)}, author = {E H Tan and S A Razak and J M Abdullah and A A Mohamed Yusoff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870296042&doi=10.1016%2fj.eplepsyres.2012.08.004&partnerID=40&md5=25cc4eeb07db2492a7c04c6b3b3b2167}, doi = {10.1016/j.eplepsyres.2012.08.004}, issn = {09201211}, year = {2012}, date = {2012-01-01}, journal = {Epilepsy Research}, volume = {102}, number = {3}, pages = {210-215}, abstract = {Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V.}, note = {cited By 2}, keywords = {Alanine, Amino Acid Substitution, Arginine, Article, Asparagine, Aspartic Acid, Children, Clinical Article, Clinical Feature, Controlled Study, Disease Association, DNA Mutational Analysis, DNA Sequence, Electroencephalography, Epilepsy, Febrile, Febrile Convulsion, Female, Gene, Gene Frequency, Gene Identification, Generalized, Generalized Epilepsy, Genetic Association, Genetic Predisposition, Genetic Screening, Genetic Variability, Glycine, Histidine, Human, Infant, Malaysia, Male, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polymorphism, Preschool Child, Priority Journal, Promoter Region, School Child, Seizure, Sequence Analysis, Single Nucleotide, Single Nucleotide Polymorphism, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene}, pubstate = {published}, tppubtype = {article} } Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V. |
Tan, E H; Yusoff, A A M; Abdullah, J M; Razak, S A Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient Journal Article Journal of Pediatric Neurosciences, 7 (2), pp. 123-125, 2012, ISSN: 18171745, (cited By 3). Abstract | Links | BibTeX | Tags: Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid @article{Tan2012123, title = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient}, author = {E H Tan and A A M Yusoff and J M Abdullah and S A Razak}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870194979&doi=10.4103%2f1817-1745.102575&partnerID=40&md5=b73f0bdb583e84404e0fff232faf30cb}, doi = {10.4103/1817-1745.102575}, issn = {18171745}, year = {2012}, date = {2012-01-01}, journal = {Journal of Pediatric Neurosciences}, volume = {7}, number = {2}, pages = {123-125}, abstract = {In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).}, note = {cited By 3}, keywords = {Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid}, pubstate = {published}, tppubtype = {article} } In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder). |
Cheah, P -S; Ramshaw, H S; Thomas, P Q; Toyo-Oka, K; Xu, X; Martin, S; Coyle, P; Guthridge, M A; Stomski, F; Buuse, Van Den M; Wynshaw-Boris, A; Lopez, A F; Schwarz, Q P Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency Journal Article Molecular Psychiatry, 17 (4), pp. 451-466, 2012, ISSN: 13594184, (cited By 58). Abstract | Links | BibTeX | Tags: 14-3-3 Proteins, Animal Experiment, Animal Model, Animal Tissue, Animals, Article, Autism, Behaviour Disorder, Bipolar Disorder, Brain, Cell Movement, Cells, Cognitive Defect, Controlled Study, Cultured, Disease Models, Disrupted in Schizophrenia 1 Protein, Embryo, Female, Gene, Gene Deletion, Genetic Predisposition to Disease, Glutamic Acid, Hippocampal Mossy Fiber, Hippocampus, Human, Hyperactivity, Inbred C57BL, Isoprotein, Knockout, Learning, Male, Maze Learning, Memory, Mice, Motor Activity, Mouse, Neurogenesis, Neuronal Migration Disorder, Neurons, Neuropsychiatry, Nonhuman, Priority Journal, Protein 14-3-3, Protein 14-3-3 Zeta, Protein Deficiency, Protein Interaction, Recognition, Risk Factor, Schizophrenia, Sensory Gating, Synapse, Unclassified Drug @article{Cheah2012451, title = {Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency}, author = {P -S Cheah and H S Ramshaw and P Q Thomas and K Toyo-Oka and X Xu and S Martin and P Coyle and M A Guthridge and F Stomski and M Van Den Buuse and A Wynshaw-Boris and A F Lopez and Q P Schwarz}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84859007028&doi=10.1038%2fmp.2011.158&partnerID=40&md5=7f507fef31a192a10b3cde7bf69b5442}, doi = {10.1038/mp.2011.158}, issn = {13594184}, year = {2012}, date = {2012-01-01}, journal = {Molecular Psychiatry}, volume = {17}, number = {4}, pages = {451-466}, abstract = {Complex neuropsychiatric disorders are believed to arise from multiple synergistic deficiencies within connected biological networks controlling neuronal migration, axonal pathfinding and synapse formation. Here, we show that deletion of 14-3-3ζ causes neurodevelopmental anomalies similar to those seen in neuropsychiatric disorders such as schizophrenia, autism spectrum disorder and bipolar disorder. 14-3-3ζ-Deficient mice displayed striking behavioural and cognitive deficiencies including a reduced capacity to learn and remember, hyperactivity and disrupted sensorimotor gating. These deficits are accompanied by subtle developmental abnormalities of the hippocampus that are underpinned by aberrant neuronal migration. Significantly, 14-3-3ζ- deficient mice exhibited abnormal mossy fibre navigation and glutamatergic synapse formation. The molecular basis of these defects involves the schizophrenia risk factor, DISC1, which interacts isoform specifically with 14-3-3ζ. Our data provide the first evidence of a direct role for 14-3-3ζ deficiency in the aetiology of neurodevelopmental disorders and identifies 14-3-3ζ as a central risk factor in the schizophrenia protein interaction network. © 2012 Macmillan Publishers Limited All rights reserved.}, note = {cited By 58}, keywords = {14-3-3 Proteins, Animal Experiment, Animal Model, Animal Tissue, Animals, Article, Autism, Behaviour Disorder, Bipolar Disorder, Brain, Cell Movement, Cells, Cognitive Defect, Controlled Study, Cultured, Disease Models, Disrupted in Schizophrenia 1 Protein, Embryo, Female, Gene, Gene Deletion, Genetic Predisposition to Disease, Glutamic Acid, Hippocampal Mossy Fiber, Hippocampus, Human, Hyperactivity, Inbred C57BL, Isoprotein, Knockout, Learning, Male, Maze Learning, Memory, Mice, Motor Activity, Mouse, Neurogenesis, Neuronal Migration Disorder, Neurons, Neuropsychiatry, Nonhuman, Priority Journal, Protein 14-3-3, Protein 14-3-3 Zeta, Protein Deficiency, Protein Interaction, Recognition, Risk Factor, Schizophrenia, Sensory Gating, Synapse, Unclassified Drug}, pubstate = {published}, tppubtype = {article} } Complex neuropsychiatric disorders are believed to arise from multiple synergistic deficiencies within connected biological networks controlling neuronal migration, axonal pathfinding and synapse formation. Here, we show that deletion of 14-3-3ζ causes neurodevelopmental anomalies similar to those seen in neuropsychiatric disorders such as schizophrenia, autism spectrum disorder and bipolar disorder. 14-3-3ζ-Deficient mice displayed striking behavioural and cognitive deficiencies including a reduced capacity to learn and remember, hyperactivity and disrupted sensorimotor gating. These deficits are accompanied by subtle developmental abnormalities of the hippocampus that are underpinned by aberrant neuronal migration. Significantly, 14-3-3ζ- deficient mice exhibited abnormal mossy fibre navigation and glutamatergic synapse formation. The molecular basis of these defects involves the schizophrenia risk factor, DISC1, which interacts isoform specifically with 14-3-3ζ. Our data provide the first evidence of a direct role for 14-3-3ζ deficiency in the aetiology of neurodevelopmental disorders and identifies 14-3-3ζ as a central risk factor in the schizophrenia protein interaction network. © 2012 Macmillan Publishers Limited All rights reserved. |
2011 |
Freeth, M; Ropar, D; Mitchell, P; Chapman, P; Loher, S Journal of Autism and Developmental Disorders, 41 (3), pp. 364-371, 2011, ISSN: 01623257, (cited By 21). Abstract | Links | BibTeX | Tags: Adolescent, Article, Association, Attention, Autism, Child Development Disorders, Children, Clinical Article, Controlled Study, Cues, Emotion, Eye Fixation, Eye Movement, Eye Tracking, Female, Gaze, Human, Intelligence Quotient, Male, Mental Function, Mental Health, Perception, Pervasive, Photic Stimulation, Photostimulation, Priority Journal, Psychological Aspect, School Child, Social Aspect, Social Perception, Stimulus Response, Verbal Communication, Vision, Visual Perception, Visual Stimulation @article{Freeth2011364, title = {Brief report: How adolescents with ASD process social information in complex scenes. Combining evidence from eye movements and verbal descriptions}, author = {M Freeth and D Ropar and P Mitchell and P Chapman and S Loher}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-79956006659&doi=10.1007%2fs10803-010-1053-4&partnerID=40&md5=35b5c8dd813f7eab2963b27081f11e78}, doi = {10.1007/s10803-010-1053-4}, issn = {01623257}, year = {2011}, date = {2011-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {41}, number = {3}, pages = {364-371}, abstract = {We investigated attention, encoding and processing of social aspects of complex photographic scenes. Twenty-four high-functioning adolescents (aged 11-16) with ASD and 24 typically developing matched control participants viewed and then described a series of scenes, each containing a person. Analyses of eye movements and verbal descriptions provided converging evidence that both groups displayed general interest in the person in each scene but the salience of the person was reduced for the ASD participants. Nevertheless, the verbal descriptions revealed that participants with ASD frequently processed the observed person's emotion or mental state without prompting. They also often mentioned eye-gaze direction, and there was evidence from eye movements and verbal descriptions that gaze was followed accurately. The combination of evidence from eye movements and verbal descriptions provides a rich insight into the way stimuli are processed overall. The merits of using these methods within the same paradigm are discussed. © Springer Science+Business Media, LLC 2010.}, note = {cited By 21}, keywords = {Adolescent, Article, Association, Attention, Autism, Child Development Disorders, Children, Clinical Article, Controlled Study, Cues, Emotion, Eye Fixation, Eye Movement, Eye Tracking, Female, Gaze, Human, Intelligence Quotient, Male, Mental Function, Mental Health, Perception, Pervasive, Photic Stimulation, Photostimulation, Priority Journal, Psychological Aspect, School Child, Social Aspect, Social Perception, Stimulus Response, Verbal Communication, Vision, Visual Perception, Visual Stimulation}, pubstate = {published}, tppubtype = {article} } We investigated attention, encoding and processing of social aspects of complex photographic scenes. Twenty-four high-functioning adolescents (aged 11-16) with ASD and 24 typically developing matched control participants viewed and then described a series of scenes, each containing a person. Analyses of eye movements and verbal descriptions provided converging evidence that both groups displayed general interest in the person in each scene but the salience of the person was reduced for the ASD participants. Nevertheless, the verbal descriptions revealed that participants with ASD frequently processed the observed person's emotion or mental state without prompting. They also often mentioned eye-gaze direction, and there was evidence from eye movements and verbal descriptions that gaze was followed accurately. The combination of evidence from eye movements and verbal descriptions provides a rich insight into the way stimuli are processed overall. The merits of using these methods within the same paradigm are discussed. © Springer Science+Business Media, LLC 2010. |
2010 |
Sheppard, E; Ropar, D; Underwood, G; Loon, Van E Brief report: Driving hazard perception in autism Journal Article Journal of Autism and Developmental Disorders, 40 (4), pp. 504-508, 2010, ISSN: 01623257, (cited By 42). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Association, Autism, Autism Spectrum Disorders, Automobile Driving, Car Driving, Case-Control Studies, Clinical Article, Controlled Study, Hazard Assessment, Human, Information Processing, Intelligence Quotient, Male, Mental Health, Motor Dysfunction, Neuropsychological Tests, Perception, Photic Stimulation, Priority Journal, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Visual Perception, Visual Stimulation, Young Adult @article{Sheppard2010504, title = {Brief report: Driving hazard perception in autism}, author = {E Sheppard and D Ropar and G Underwood and E Van Loon}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77954458984&doi=10.1007%2fs10803-009-0890-5&partnerID=40&md5=f0036a737ebb461359baf1bd8b388b23}, doi = {10.1007/s10803-009-0890-5}, issn = {01623257}, year = {2010}, date = {2010-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {40}, number = {4}, pages = {504-508}, abstract = {This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (social); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00}, note = {cited By 42}, keywords = {Adolescent, Adult, Article, Association, Autism, Autism Spectrum Disorders, Automobile Driving, Car Driving, Case-Control Studies, Clinical Article, Controlled Study, Hazard Assessment, Human, Information Processing, Intelligence Quotient, Male, Mental Health, Motor Dysfunction, Neuropsychological Tests, Perception, Photic Stimulation, Priority Journal, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Visual Perception, Visual Stimulation, Young Adult}, pubstate = {published}, tppubtype = {article} } This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (social); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00 |
2008 |
Amar, H S S Meeting the needs of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 1-3, 2008, ISSN: 03005283, (cited By 20). Links | BibTeX | Tags: Autism, Behaviour Modification, Child Development, Child Health Care, Children, Clinical Assessment, Clinical Decision Making, Developmental Disorders, Developmental Screening, Disabled Children, Editorial, Health Care, Health Care Delivery, Health Practitioner, Health Program, Health Survey, Human, Intellectual Impairment, Learning Disorder, Malaysia, Pediatric Physiotherapy, Pediatric Rehabilitation, Physical Disability, Preschool, Public Health Service, Register, Sensitivity and Specificity, Sensory Dysfunction, Social Adaptation, Social Welfare, Speech Therapy, Support Group, United Kingdom, United States @article{Amar20081, title = {Meeting the needs of children with disability in Malaysia}, author = {H S S Amar}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-49749107033&partnerID=40&md5=968c527b940374a37322a599d3ccc812}, issn = {03005283}, year = {2008}, date = {2008-01-01}, journal = {Medical Journal of Malaysia}, volume = {63}, number = {1}, pages = {1-3}, note = {cited By 20}, keywords = {Autism, Behaviour Modification, Child Development, Child Health Care, Children, Clinical Assessment, Clinical Decision Making, Developmental Disorders, Developmental Screening, Disabled Children, Editorial, Health Care, Health Care Delivery, Health Practitioner, Health Program, Health Survey, Human, Intellectual Impairment, Learning Disorder, Malaysia, Pediatric Physiotherapy, Pediatric Rehabilitation, Physical Disability, Preschool, Public Health Service, Register, Sensitivity and Specificity, Sensory Dysfunction, Social Adaptation, Social Welfare, Speech Therapy, Support Group, United Kingdom, United States}, pubstate = {published}, tppubtype = {article} } |
2006 |
Blum, J D; Talib, N Balancing individual rights versus collective good in public health enforcement Journal Article Medicine and Law, 25 (2), pp. 273-281, 2006, ISSN: 07231393, (cited By 6). Abstract | Links | BibTeX | Tags: Article, Autism, Childhood, Court, Freedom, Government, Harm Reduction, Human, Human Rights, Immunization, Infection Control, Infection Prevention, Jurisprudence, Mercury, Parental Behavior, Public Health Service, Severe Acute Respiratory Syndrome, Severe Acute Respiratory Syndrome Vaccine, Social Isolation, Treatment Refusal, United States, Vaccination @article{Blum2006273, title = {Balancing individual rights versus collective good in public health enforcement}, author = {J D Blum and N Talib}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-33746936600&partnerID=40&md5=a2c4c6236febc643356d94b27241a893}, issn = {07231393}, year = {2006}, date = {2006-01-01}, journal = {Medicine and Law}, volume = {25}, number = {2}, pages = {273-281}, publisher = {Yozmot Heiliger Ltd}, abstract = {This paper explores the balance between common good and individual liberty in the context of public health regulation. The issues are explored in reference to two areas of regulation, isolation and quarantine in the case of SARS, and the rights of parents to refuse mandatory childhood immunizations. In the case of SARS, the analysis explores the age old practice of isolation and quarantine, an important preventive measure with clear civil liberty implications. In reference to childhood immunization the paper considers the American controversy involving the refusal of parents to have their children vaccinated, fearing that mercury in vaccines will lead to autism. The analysis explores the US Supreme Court case of Jacobson v. Massachusetts which 100 years ago established a four part test for evaluating claims of individuals that government public health authorities were infringing on their liberty interests. The paper endorses the four elements of necessity, reasonableness, proportionality, and harm avoidance identified in Jacobson, but calls for a more rigorous scientific evaluation to accompany this traditional test. © YOZMOT 2006.}, note = {cited By 6}, keywords = {Article, Autism, Childhood, Court, Freedom, Government, Harm Reduction, Human, Human Rights, Immunization, Infection Control, Infection Prevention, Jurisprudence, Mercury, Parental Behavior, Public Health Service, Severe Acute Respiratory Syndrome, Severe Acute Respiratory Syndrome Vaccine, Social Isolation, Treatment Refusal, United States, Vaccination}, pubstate = {published}, tppubtype = {article} } This paper explores the balance between common good and individual liberty in the context of public health regulation. The issues are explored in reference to two areas of regulation, isolation and quarantine in the case of SARS, and the rights of parents to refuse mandatory childhood immunizations. In the case of SARS, the analysis explores the age old practice of isolation and quarantine, an important preventive measure with clear civil liberty implications. In reference to childhood immunization the paper considers the American controversy involving the refusal of parents to have their children vaccinated, fearing that mercury in vaccines will lead to autism. The analysis explores the US Supreme Court case of Jacobson v. Massachusetts which 100 years ago established a four part test for evaluating claims of individuals that government public health authorities were infringing on their liberty interests. The paper endorses the four elements of necessity, reasonableness, proportionality, and harm avoidance identified in Jacobson, but calls for a more rigorous scientific evaluation to accompany this traditional test. © YOZMOT 2006. |
2005 |
Jayachandra, S Is secretin effective in treatment for Autism Spectrum Disorders (ASD)? Journal Article International Journal of Psychiatry in Medicine, 35 (1), pp. 99-101, 2005, ISSN: 00912174, (cited By 2). Links | BibTeX | Tags: Autism, Autism Spectrum Disorders, Children, Clinical Trial, Drug Effect, Drug Efficacy, Drug Mechanism, Gastrointestinal Symptom, Human, Hypersensitivity, Injections, Intravenous, Letter, Secretin, Treatment Outcome @article{Jayachandra200599, title = {Is secretin effective in treatment for Autism Spectrum Disorders (ASD)?}, author = {S Jayachandra}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-23044481281&doi=10.2190%2fQ1D2-5DNB-V4FJ-J9M5&partnerID=40&md5=791bd90c9cdaa7b82bc5d7e8b8c5a7de}, doi = {10.2190/Q1D2-5DNB-V4FJ-J9M5}, issn = {00912174}, year = {2005}, date = {2005-01-01}, journal = {International Journal of Psychiatry in Medicine}, volume = {35}, number = {1}, pages = {99-101}, note = {cited By 2}, keywords = {Autism, Autism Spectrum Disorders, Children, Clinical Trial, Drug Effect, Drug Efficacy, Drug Mechanism, Gastrointestinal Symptom, Human, Hypersensitivity, Injections, Intravenous, Letter, Secretin, Treatment Outcome}, pubstate = {published}, tppubtype = {article} } |
Jayachandra, S Need for internet based scoring system for autism treatment evaluation [2] Journal Article Journal of Autism and Developmental Disorders, 35 (5), pp. 685, 2005, ISSN: 01623257, (cited By 1). Links | BibTeX | Tags: Asperger Syndrome, Autism, Autism Spectrum Disorders, Diagnostic and Statistical Manual of Mental Disorders, Evaluation, Health Service, Health Services Needs and Demand, Human, Infant, Infantile Autism, Instrumentation, Internet, Letter, Priority Journal, Psychoeducation, Psychotherapy, Reliability, Scoring System, Treatment Outcome @article{Jayachandra2005685, title = {Need for internet based scoring system for autism treatment evaluation [2]}, author = {S Jayachandra}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-33644946467&doi=10.1007%2fs10803-005-0016-7&partnerID=40&md5=6d3e95280dce87a6ec735d67e27fe5bc}, doi = {10.1007/s10803-005-0016-7}, issn = {01623257}, year = {2005}, date = {2005-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {35}, number = {5}, pages = {685}, publisher = {Springer Science and Business Media Deutschland GmbH}, note = {cited By 1}, keywords = {Asperger Syndrome, Autism, Autism Spectrum Disorders, Diagnostic and Statistical Manual of Mental Disorders, Evaluation, Health Service, Health Services Needs and Demand, Human, Infant, Infantile Autism, Instrumentation, Internet, Letter, Priority Journal, Psychoeducation, Psychotherapy, Reliability, Scoring System, Treatment Outcome}, pubstate = {published}, tppubtype = {article} } |
1995 |
Kasmini, K; Zasmani, S Asperger's syndrome: a report of two cases from Malaysia. Journal Article Singapore medical journal, 36 (6), pp. 641-643, 1995, ISSN: 00375675, (cited By 2). Abstract | Links | BibTeX | Tags: Article, Autism, Autism Spectrum Disorders, Case Report, Child Development Disorders, Children, Classification (of information), Human, Language Development Disorders, Language Disability, Malaysia, Male, Pervasive, Psychiatric Status Rating Scales, Psychological Aspect, Psychological Rating Scale, Social Behaviour, Stereotyped Behaviour, Stereotypy, Syndrome @article{Kasmini1995641, title = {Asperger's syndrome: a report of two cases from Malaysia.}, author = {K Kasmini and S Zasmani}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-0029445569&partnerID=40&md5=6280382e5c679f84eea178a916b2e19f}, issn = {00375675}, year = {1995}, date = {1995-01-01}, journal = {Singapore medical journal}, volume = {36}, number = {6}, pages = {641-643}, abstract = {Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0.4 per 10,000 in those with mild mental retardation. The syndrome now has its own clinical entity and diagnostic criteria. It is being officially listed in the ICD-10 under pervasive developmental disorder. Two such cases are described in this article. Case One lacked the ability to relate to others, was excessively preoccupied with the late actor P. Ramlee and demonstrated a peculiar behaviour of holding on to toothbrushes in his early childhood. Cognitively, he was unable to synthesise words into meaningful sentences. Similarly, Case Two was unable to relate well to others and was preoccupied with the planets and its constellations. Though he appeared intelligent with an IQ score of 101, he was unable to follow instructions at school. Both children had motor clumsiness and fulfilled the criteria for the diagnosis of Asperger's Syndrome.}, note = {cited By 2}, keywords = {Article, Autism, Autism Spectrum Disorders, Case Report, Child Development Disorders, Children, Classification (of information), Human, Language Development Disorders, Language Disability, Malaysia, Male, Pervasive, Psychiatric Status Rating Scales, Psychological Aspect, Psychological Rating Scale, Social Behaviour, Stereotyped Behaviour, Stereotypy, Syndrome}, pubstate = {published}, tppubtype = {article} } Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0.4 per 10,000 in those with mild mental retardation. The syndrome now has its own clinical entity and diagnostic criteria. It is being officially listed in the ICD-10 under pervasive developmental disorder. Two such cases are described in this article. Case One lacked the ability to relate to others, was excessively preoccupied with the late actor P. Ramlee and demonstrated a peculiar behaviour of holding on to toothbrushes in his early childhood. Cognitively, he was unable to synthesise words into meaningful sentences. Similarly, Case Two was unable to relate well to others and was preoccupied with the planets and its constellations. Though he appeared intelligent with an IQ score of 101, he was unable to follow instructions at school. Both children had motor clumsiness and fulfilled the criteria for the diagnosis of Asperger's Syndrome. |
2020 |
Factors associated with autism severity among Malaysian children with Autism Spectrum Disorder Journal Article Research in Developmental Disabilities, 100 , 2020, ISSN: 08914222, (cited By 0). |
Multimodal strategies in teaching children with autism: A discourse analysis Journal Article Systematic Reviews in Pharmacy, 11 (2), pp. 219-229, 2020, ISSN: 09758453, (cited By 0). |
2019 |
Assessment of knowledge and attitude among postnatal mothers towards childhood vaccination in Malaysia Journal Article Human Vaccines and Immunotherapeutics, 15 (11), pp. 2544-2551, 2019, ISSN: 21645515, (cited By 0). |
Medical Journal of Malaysia, 74 (5), pp. 372-376, 2019, ISSN: 03005283, (cited By 0). |
Crocodiles and alligators: Physicians’ answer to cancer? Journal Article Current Oncology, 26 (3), pp. 186, 2019, ISSN: 11980052, (cited By 1). |
Nutrients, 11 (4), 2019, ISSN: 20726643, (cited By 4). |
Parent-report instruments for assessing feeding difficulties in children with neurological impairments: a systematic review Journal Article Developmental Medicine and Child Neurology, 61 (2), pp. 135-144, 2019, ISSN: 00121622, (cited By 1). |
2018 |
A review in modification food-intake behavior by brain stimulation: Excess weight cases Journal Article NeuroQuantology, 16 (12), pp. 86-97, 2018, ISSN: 13035150, (cited By 2). |
Accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in Detecting Autism and Other Developmental Disorders in Community Clinics Journal Article Journal of Autism and Developmental Disorders, 48 (1), pp. 28-35, 2018, ISSN: 01623257, (cited By 9). |
Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). |
GRIN2D variants in three cases of developmental and epileptic encephalopathy Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). |
Improved binary dragonfly optimization algorithm and wavelet packet based non-linear features for infant cry classification Journal Article Computer Methods and Programs in Biomedicine, 155 , pp. 39-51, 2018, ISSN: 01692607, (cited By 21). |
Medical students’ perceptions, awareness, societal attitudes and knowledge of autism spectrum disorder: an exploratory study in Malaysia Journal Article International Journal of Developmental Disabilities, 64 (2), pp. 86-95, 2018, ISSN: 20473869, (cited By 1). |
Current Drug Targets, 19 (8), pp. 865-876, 2018, ISSN: 13894501, (cited By 2). |
2017 |
Scientific Reports, 7 (1), 2017, ISSN: 20452322, (cited By 6). |
Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay Journal Article Malaysian Journal of Pathology, 39 (1), pp. 77-81, 2017, ISSN: 01268635, (cited By 0). |
Emotional regulation in autism spectrum disorders: A new proposed model for regulating emotions through parent education Journal Article Journal of Global Pharma Technology, 9 (7), pp. 32-43, 2017, ISSN: 09758542, (cited By 0). |
Neuron-specific splicing Journal Article BioScience Trends, 11 (1), pp. 16-22, 2017, ISSN: 18817815, (cited By 0). |
2016 |
A meta-synthesis on parenting a child with autism Journal Article Neuropsychiatric Disease and Treatment, 12 , pp. 745-762, 2016, ISSN: 11766328, (cited By 44). |
How Easy is it to Read the Minds of People with Autism Spectrum Disorder? Journal Article Journal of Autism and Developmental Disorders, 46 (4), pp. 1247-1254, 2016, ISSN: 01623257, (cited By 37). |
2015 |
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development Journal Article Developmental Cell, 32 (1), pp. 31-42, 2015, ISSN: 15345807, (cited By 52). |
Art therapy and autism Journal Article Asian Journal of Pharmaceutical and Clinical Research, 8 (6), pp. 202-203, 2015, ISSN: 09742441, (cited By 0). |
Clinical application of sensory integration therapy for children with autism Journal Article Egyptian Journal of Medical Human Genetics, 16 (4), pp. 393-394, 2015, ISSN: 11108630, (cited By 1). |
Heuristics to evaluate interactive systems for children with Autism Spectrum Disorder (ASD) Journal Article PLoS ONE, 10 (7), 2015, ISSN: 19326203, (cited By 12). |
Multidisciplinary Parent Education for Caregivers of Children With Autism Spectrum Disorders (ASD): Implications for Clinical Practice Journal Article Archives of Psychiatric Nursing, 29 (1), pp. 5, 2015, ISSN: 08839417, (cited By 0). |
2014 |
Autism: Cause factors, early diagnosis and therapies Journal Article Reviews in the Neurosciences, 25 (6), pp. 841-850, 2014, ISSN: 03341763, (cited By 52). |
Automated diagnosis of autism: In search of a mathematical marker Journal Article Reviews in the Neurosciences, 25 (6), pp. 851-861, 2014, ISSN: 03341763, (cited By 34). |
Can adults with autism spectrum disorders infer what happened to someone from their emotional response? Journal Article Autism Research, 7 (1), pp. 112-123, 2014, ISSN: 19393792, (cited By 21). |
Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability Journal Article East Asian Archives of Psychiatry, 24 (1), pp. 16-22, 2014, ISSN: 20789947, (cited By 6). |
Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). |
Does Bisphenol A contribute to autism spectrum disorder? Journal Article Current Topics in Toxicology, 10 , pp. 63-70, 2014, ISSN: 09728228, (cited By 1). |
PLoS ONE, 9 (4), 2014, ISSN: 19326203, (cited By 20). |
2013 |
A cross-cultural comparison of autistic traits in the UK, India and Malaysia Journal Article Journal of Autism and Developmental Disorders, 43 (11), pp. 2569-2583, 2013, ISSN: 01623257, (cited By 39). |
A systematic review of strategies and computer-based intervention (CBI) for reading comprehension of children with autism Journal Article Research in Autism Spectrum Disorders, 7 (9), pp. 1111-1121, 2013, ISSN: 17509467, (cited By 28). |
Association of human mtDNA mutations with autism in Iranian patients Journal Article Journal of Research in Medical Sciences, 18 (10), pp. 926, 2013, ISSN: 17351995, (cited By 2). |
Classification of emotional states from electrocardiogram signals: A non-linear approach based on hurst Journal Article BioMedical Engineering Online, 12 (1), 2013, ISSN: 1475925X, (cited By 42). |
Efficacy of collaborative virtual environment intervention programs in emotion expression of children with autism Journal Article Journal of Medical Imaging and Health Informatics, 3 (2), pp. 321-325, 2013, ISSN: 21567018, (cited By 4). |
Mentalizing and motivation neural function during social interactions in autism spectrum disorders Journal Article NeuroImage: Clinical, 3 , pp. 321-331, 2013, ISSN: 22131582, (cited By 28). |
2012 |
An initial look at the quality of life of Malaysian families that include children with disabilities Journal Article Journal of Intellectual Disability Research, 56 (1), pp. 45-60, 2012, ISSN: 09642633, (cited By 16). |
Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy Journal Article Journal of Neurosciences in Rural Practice, 3 (3), pp. 244-250, 2012, ISSN: 09763147, (cited By 1). |
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+) Journal Article Epilepsy Research, 102 (3), pp. 210-215, 2012, ISSN: 09201211, (cited By 2). |
Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient Journal Article Journal of Pediatric Neurosciences, 7 (2), pp. 123-125, 2012, ISSN: 18171745, (cited By 3). |
Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency Journal Article Molecular Psychiatry, 17 (4), pp. 451-466, 2012, ISSN: 13594184, (cited By 58). |
2011 |
Journal of Autism and Developmental Disorders, 41 (3), pp. 364-371, 2011, ISSN: 01623257, (cited By 21). |
2010 |
Brief report: Driving hazard perception in autism Journal Article Journal of Autism and Developmental Disorders, 40 (4), pp. 504-508, 2010, ISSN: 01623257, (cited By 42). |
2008 |
Meeting the needs of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 1-3, 2008, ISSN: 03005283, (cited By 20). |
2006 |
Balancing individual rights versus collective good in public health enforcement Journal Article Medicine and Law, 25 (2), pp. 273-281, 2006, ISSN: 07231393, (cited By 6). |
2005 |
Is secretin effective in treatment for Autism Spectrum Disorders (ASD)? Journal Article International Journal of Psychiatry in Medicine, 35 (1), pp. 99-101, 2005, ISSN: 00912174, (cited By 2). |
Need for internet based scoring system for autism treatment evaluation [2] Journal Article Journal of Autism and Developmental Disorders, 35 (5), pp. 685, 2005, ISSN: 01623257, (cited By 1). |
1995 |
Asperger's syndrome: a report of two cases from Malaysia. Journal Article Singapore medical journal, 36 (6), pp. 641-643, 1995, ISSN: 00375675, (cited By 2). |