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{Eow2020, title = {Factors associated with autism severity among Malaysian children with Autism Spectrum Disorder}, author = {S Y Eow and W Y Gan and P Y Lim and H Awang and Z Mohd Shariff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85081212440&doi=10.1016%2fj.ridd.2020.103632&partnerID=40&md5=a2814a66b9d649278ea7f764ed7e4125}, doi = {10.1016/j.ridd.2020.103632}, issn = {08914222}, year = {2020}, date = {2020-01-01}, journal = {Research in Developmental Disabilities}, volume = {100}, publisher = {Elsevier Inc.}, abstract = {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}, note = {cited By 0}, keywords = {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}, pubstate = {published}, tppubtype = {article} } 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 |
2019 |
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{Liu2019, title = {Effects of lactobacillus plantarum PS128 on children with autism spectrum disorder in Taiwan: A randomized, double-blind, placebo-controlled trial}, author = {Y -W Liu and M T Liong and Y -C E Chung and H -Y Huang and W -S Peng and Y -F Cheng and Y -S Lin and Y -Y Wu and Y -C Tsai}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85064817846&doi=10.3390%2fnu11040820&partnerID=40&md5=ca04462e8710198b821b44f8e73061f3}, doi = {10.3390/nu11040820}, issn = {20726643}, year = {2019}, date = {2019-01-01}, journal = {Nutrients}, volume = {11}, number = {4}, publisher = {MDPI AG}, abstract = {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.}, note = {cited By 4}, keywords = {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}, pubstate = {published}, tppubtype = {article} } 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. |
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 |
2017 |
Hasan, C Z C; Jailani, R; Tahir, Md N Use of statistical approaches and artificial neural networks to identify gait deviations in children with autism spectrum disorder Journal Article International Journal of Biology and Biomedical Engineering, 11 , pp. 74-79, 2017, ISSN: 19984510, (cited By 1). Abstract | Links | BibTeX | Tags: Article, Artificial Neural Network, Autism, Body Height, Body Mass, Children, Clinical Article, Controlled Study, Discriminant Analysis, Early Diagnosis, Female, Gait, Gait Analysis, Gait Disorder, Human, Learning, Male, Pediatrics, School Child, Statistical Analysis, Statistics, Time Series Analysis @article{Hasan201774, title = {Use of statistical approaches and artificial neural networks to identify gait deviations in children with autism spectrum disorder}, author = {C Z C Hasan and R Jailani and N Md Tahir}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85043500605&partnerID=40&md5=6f2ffe7c2f5daf9fd02d4456acb94438}, issn = {19984510}, year = {2017}, date = {2017-01-01}, journal = {International Journal of Biology and Biomedical Engineering}, volume = {11}, pages = {74-79}, publisher = {North Atlantic University Union NAUN}, abstract = {Automated differentiation of ASD gait from normal gait patterns is important for early diagnosis as well as ensuring rapid quantitative clinical decision and appropriate treatment planning. This study explores the use of statistical feature selection approaches and artificial neural networks (ANN) for automated identification of gait deviations in children with ASD, on the basis of dominant gait features derived from the three-dimensional (3D) joint kinematic data. The gait data from 30 ASD children and 30 normal healthy children were measured using a state-of-the-art 3D motion analysis system during self-selected speed barefoot walking. Kinematic gait features from the sagittal, frontal and transverse joint angles waveforms at the pelvis, hip, knee, and ankle were extracted using time-series parameterization. Two statistical feature selection techniques, namely the between-group tests (independent samples t-test and Mann-Whitney U test) and the stepwise discriminant analysis (SWDA) were adopted as feature selector to select the meaningful gait features that were then used to train the ANN. The 10-fold cross-validation test results indicate that the selected gait features using SWDA technique are more reliable for ASD gait classification with 91.7% accuracy, 93.3% sensitivity, and 90.0% specificity. The findings of the current study demonstrate that kinematic gait features with the combination of SWDA feature selector and ANN classifier would serve as a potential tool for early diagnosis of gait deviations in children with ASD as well as provide support to clinicians and therapists for making objective, accurate, and rapid clinical decisions that lead to the appropriate targeted treatments. © 2017 North Atlantic University Union NAUN. All Rights Reserved.}, note = {cited By 1}, keywords = {Article, Artificial Neural Network, Autism, Body Height, Body Mass, Children, Clinical Article, Controlled Study, Discriminant Analysis, Early Diagnosis, Female, Gait, Gait Analysis, Gait Disorder, Human, Learning, Male, Pediatrics, School Child, Statistical Analysis, Statistics, Time Series Analysis}, pubstate = {published}, tppubtype = {article} } Automated differentiation of ASD gait from normal gait patterns is important for early diagnosis as well as ensuring rapid quantitative clinical decision and appropriate treatment planning. This study explores the use of statistical feature selection approaches and artificial neural networks (ANN) for automated identification of gait deviations in children with ASD, on the basis of dominant gait features derived from the three-dimensional (3D) joint kinematic data. The gait data from 30 ASD children and 30 normal healthy children were measured using a state-of-the-art 3D motion analysis system during self-selected speed barefoot walking. Kinematic gait features from the sagittal, frontal and transverse joint angles waveforms at the pelvis, hip, knee, and ankle were extracted using time-series parameterization. Two statistical feature selection techniques, namely the between-group tests (independent samples t-test and Mann-Whitney U test) and the stepwise discriminant analysis (SWDA) were adopted as feature selector to select the meaningful gait features that were then used to train the ANN. The 10-fold cross-validation test results indicate that the selected gait features using SWDA technique are more reliable for ASD gait classification with 91.7% accuracy, 93.3% sensitivity, and 90.0% specificity. The findings of the current study demonstrate that kinematic gait features with the combination of SWDA feature selector and ANN classifier would serve as a potential tool for early diagnosis of gait deviations in children with ASD as well as provide support to clinicians and therapists for making objective, accurate, and rapid clinical decisions that lead to the appropriate targeted treatments. © 2017 North Atlantic University Union NAUN. All Rights Reserved. |
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. |
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. |
2013 |
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. |
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. |
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). |
2019 |
Nutrients, 11 (4), 2019, ISSN: 20726643, (cited By 4). |
2018 |
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). |
2017 |
Use of statistical approaches and artificial neural networks to identify gait deviations in children with autism spectrum disorder Journal Article International Journal of Biology and Biomedical Engineering, 11 , pp. 74-79, 2017, ISSN: 19984510, (cited By 1). |
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). |
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). |
2013 |
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). |
2011 |
Journal of Autism and Developmental Disorders, 41 (3), pp. 364-371, 2011, ISSN: 01623257, (cited By 21). |