2019 |
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{Jaafar2019135, title = {Parent-report instruments for assessing feeding difficulties in children with neurological impairments: a systematic review}, author = {N H Jaafar and A Othman and N A Majid and S Harith and Z Zabidi-Hussin}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85052789833&doi=10.1111%2fdmcn.13986&partnerID=40&md5=d02a2bfcd15a25988b9c23855cd87444}, doi = {10.1111/dmcn.13986}, issn = {00121622}, year = {2019}, date = {2019-01-01}, journal = {Developmental Medicine and Child Neurology}, volume = {61}, number = {2}, pages = {135-144}, publisher = {Blackwell Publishing Ltd}, abstract = {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}, note = {cited By 1}, keywords = {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}, pubstate = {published}, tppubtype = {article} } 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 |
Ong, J J BMC Complementary and Alternative Medicine, 19 (1), 2019, ISSN: 14726882, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Alternative Medicine, Autism, Autism Spectrum Disorders, Child Behaviour, Child Parent Relation, Children, Complementary Therapies, Cross-Sectional Study, Female, Human, Infant, Malaysia, Male, Middle Aged, Parents, Personal Satisfaction, Preschool, Preschool Child, Psychology, Questionnaires, Satisfaction, Social Competence, Social Skills, Surveys, Treatment Outcome @article{Ong2019, title = {Parental satisfaction and perception of Progress in influencing the Practice of complementary health approaches in children with autism: A cross sectional survey from Negeri Sembilan, Malaysia}, author = {J J Ong}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85071968009&doi=10.1186%2fs12906-019-2672-8&partnerID=40&md5=7357d9aa26c64a321790fee9aae89765}, doi = {10.1186/s12906-019-2672-8}, issn = {14726882}, year = {2019}, date = {2019-01-01}, journal = {BMC Complementary and Alternative Medicine}, volume = {19}, number = {1}, publisher = {BioMed Central Ltd.}, abstract = {Background: Parents' use of complementary health approaches (CHA) for children with autism spectrum disorder (ASD) are common despite the uncertain evidence of its benefit. Parents often adopt CHA due to dissatisfaction with conventional treatment. This study aimed to examine parents' satisfaction with ASD treatment and their perception of progress in their child's development. Parents' use of CHA among children with ASD and the factors related were also evaluated. Methods: Self-administered questionnaires were completed by 48 parents of children with ASD at a single tertiary referral hospital in Malaysia. Correlation analysis was used to explore associations between parental satisfaction scores, perception of progress scores and use of CHA. Results: Use of CHA was reported by parents for 35.4% of children with ASD in the sample. Parents who were less satisfied with conventional treatment and parents who perceived poorer progress in their child's development were more likely to use CHA. Strong positive relationship was found between parent satisfaction with ASD treatment scores and parent perception of progress scores, which indicates that parents who were satisfied with treatment were more likely to perceive greater progress in their child's development. Improvement in child's progress was most appreciated by parents in their child's behavior (85.5%), social skills (83.3%) and motor skills (77.1%). Conclusion: The use of CHA was common among children with ASD. Parents were more likely to practice CHA when they were less satisfied with conventional treatment and perceived poorer progress. A larger multicenter study is required to further explore the practice of CHA among children with ASD throughout Malaysia. © 2019 The Author(s).}, note = {cited By 0}, keywords = {Adolescent, Adult, Alternative Medicine, Autism, Autism Spectrum Disorders, Child Behaviour, Child Parent Relation, Children, Complementary Therapies, Cross-Sectional Study, Female, Human, Infant, Malaysia, Male, Middle Aged, Parents, Personal Satisfaction, Preschool, Preschool Child, Psychology, Questionnaires, Satisfaction, Social Competence, Social Skills, Surveys, Treatment Outcome}, pubstate = {published}, tppubtype = {article} } Background: Parents' use of complementary health approaches (CHA) for children with autism spectrum disorder (ASD) are common despite the uncertain evidence of its benefit. Parents often adopt CHA due to dissatisfaction with conventional treatment. This study aimed to examine parents' satisfaction with ASD treatment and their perception of progress in their child's development. Parents' use of CHA among children with ASD and the factors related were also evaluated. Methods: Self-administered questionnaires were completed by 48 parents of children with ASD at a single tertiary referral hospital in Malaysia. Correlation analysis was used to explore associations between parental satisfaction scores, perception of progress scores and use of CHA. Results: Use of CHA was reported by parents for 35.4% of children with ASD in the sample. Parents who were less satisfied with conventional treatment and parents who perceived poorer progress in their child's development were more likely to use CHA. Strong positive relationship was found between parent satisfaction with ASD treatment scores and parent perception of progress scores, which indicates that parents who were satisfied with treatment were more likely to perceive greater progress in their child's development. Improvement in child's progress was most appreciated by parents in their child's behavior (85.5%), social skills (83.3%) and motor skills (77.1%). Conclusion: The use of CHA was common among children with ASD. Parents were more likely to practice CHA when they were less satisfied with conventional treatment and perceived poorer progress. A larger multicenter study is required to further explore the practice of CHA among children with ASD throughout Malaysia. © 2019 The Author(s). |
Adib, N A N; Ibrahim, M I; Rahman, A A; Bakar, R S; Yahaya, N A; Hussin, S; Mansor, Wan W N A Perceived stress among caregivers of children with autism spectrum disorder: A state-wide study Journal Article International Journal of Environmental Research and Public Health, 16 (8), 2019, ISSN: 16617827, (cited By 0). Abstract | Links | BibTeX | Tags: Adaptation, Adolescent, Adult, Article, Autism, Autism Spectrum Disorders, Caregiver, Caregiver Burden, Child Care, Children, Coping Behaviour, Cross-Sectional Study, Female, Follow Up, Health Care, Health Care Access, Human, Infant, Learning Disorder, Malaysia, Male, Mental Stress, Middle Aged, Multiple Linear Regression Analysis, Newborn, Normal Human, Patient Transport, Perceived Stress Scale, Prediction, Preschool, Preschool Child, Psychological, Psychology, Psychometrics, Psychometry, Quality of Life, Stress, Tertiary Care Center, University Hospital @article{Adib2019b, title = {Perceived stress among caregivers of children with autism spectrum disorder: A state-wide study}, author = {N A N Adib and M I Ibrahim and A A Rahman and R S Bakar and N A Yahaya and S Hussin and W N A Wan Mansor}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85065303613&doi=10.3390%2fijerph16081468&partnerID=40&md5=fc871375f0d307a95820cd87c57ea270}, doi = {10.3390/ijerph16081468}, issn = {16617827}, year = {2019}, date = {2019-01-01}, journal = {International Journal of Environmental Research and Public Health}, volume = {16}, number = {8}, publisher = {MDPI AG}, abstract = {Background: Caregivers of children with autism spectrum disorder (ASD) experience increased stress and more significant negative caregiving consequences than those with typically developing children. There is a lack of studies specifically focusing on stress among caregivers with ASD children in Asian countries. The current study examines levels of perceived stress and factors associated with it among caregivers in Kelantan, Malaysia. Methods: In a cross-sectional study, the Malay version of the Perceived Stress Scale (PSS) was administered to 227 caregivers of children with ASD. The caregivers were recruited from ASD databases in four tertiary hospitals in Kelantan and a meeting was set up during the child’s follow-up in the clinic. Multiple linear regression analyses were applied to determine the predictors of perceived stress. Results: The mean total perceived stress score was 20.84 (4.72). This was considered higher than average. Higher perceived stress was significantly predicted among caregivers who live far from the health institution, caregivers who do not own transportation to bring the child to the treatment center, and caregivers who have an ASD child with a learning disability. Conclusion: Caregivers of an ASD child perceived significant stress while taking care of their children. Institutions should alleviate the factors that were predicted to increase the caregivers’ perceived stress to improve the quality of the lives of children and ASD families as a whole. © 2019 by the authors. Licensee MDPI, Basel, Switzerland.}, note = {cited By 0}, keywords = {Adaptation, Adolescent, Adult, Article, Autism, Autism Spectrum Disorders, Caregiver, Caregiver Burden, Child Care, Children, Coping Behaviour, Cross-Sectional Study, Female, Follow Up, Health Care, Health Care Access, Human, Infant, Learning Disorder, Malaysia, Male, Mental Stress, Middle Aged, Multiple Linear Regression Analysis, Newborn, Normal Human, Patient Transport, Perceived Stress Scale, Prediction, Preschool, Preschool Child, Psychological, Psychology, Psychometrics, Psychometry, Quality of Life, Stress, Tertiary Care Center, University Hospital}, pubstate = {published}, tppubtype = {article} } Background: Caregivers of children with autism spectrum disorder (ASD) experience increased stress and more significant negative caregiving consequences than those with typically developing children. There is a lack of studies specifically focusing on stress among caregivers with ASD children in Asian countries. The current study examines levels of perceived stress and factors associated with it among caregivers in Kelantan, Malaysia. Methods: In a cross-sectional study, the Malay version of the Perceived Stress Scale (PSS) was administered to 227 caregivers of children with ASD. The caregivers were recruited from ASD databases in four tertiary hospitals in Kelantan and a meeting was set up during the child’s follow-up in the clinic. Multiple linear regression analyses were applied to determine the predictors of perceived stress. Results: The mean total perceived stress score was 20.84 (4.72). This was considered higher than average. Higher perceived stress was significantly predicted among caregivers who live far from the health institution, caregivers who do not own transportation to bring the child to the treatment center, and caregivers who have an ASD child with a learning disability. Conclusion: Caregivers of an ASD child perceived significant stress while taking care of their children. Institutions should alleviate the factors that were predicted to increase the caregivers’ perceived stress to improve the quality of the lives of children and ASD families as a whole. © 2019 by the authors. Licensee MDPI, Basel, Switzerland. |
2018 |
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{Toh201828, title = {Accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in Detecting Autism and Other Developmental Disorders in Community Clinics}, author = {T -H Toh and V W -Y Tan and P S -T Lau and A Kiyu}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85028764085&doi=10.1007%2fs10803-017-3287-x&partnerID=40&md5=21bce2407197b8b1e43b4420d274861b}, doi = {10.1007/s10803-017-3287-x}, issn = {01623257}, year = {2018}, date = {2018-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {48}, number = {1}, pages = {28-35}, publisher = {Springer New York LLC}, abstract = {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.}, note = {cited By 9}, keywords = {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}, pubstate = {published}, tppubtype = {article} } 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. |
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 |
Masiran, R Stimming behaviour in a 4-year-old girl with autism spectrum disorder Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). Links | BibTeX | Tags: Autism, Autism Spectrum Disorders, Biscuit, Biting Hard Object, Case Report, Chew Toy, Child Safety, Children, Clinical Article, Female, Food, Food Texture, Hot Food, Human, Language Disability, Note, Preschool, Preschool Child, Priority Journal, Psychology, Self Stimulation, Spicy Food, Stereotyped Behaviour, Stereotypy, Stimming Behaviour, Teething Biscuit, Vegetable @article{Masiran2018, title = {Stimming behaviour in a 4-year-old girl with autism spectrum disorder}, author = {R Masiran}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042604824&doi=10.1136%2fbcr-2017-223671&partnerID=40&md5=c7b6514a4758257be1360250bf120de3}, doi = {10.1136/bcr-2017-223671}, issn = {1757790X}, year = {2018}, date = {2018-01-01}, journal = {BMJ Case Reports}, volume = {2018}, publisher = {BMJ Publishing Group}, note = {cited By 0}, keywords = {Autism, Autism Spectrum Disorders, Biscuit, Biting Hard Object, Case Report, Chew Toy, Child Safety, Children, Clinical Article, Female, Food, Food Texture, Hot Food, Human, Language Disability, Note, Preschool, Preschool Child, Priority Journal, Psychology, Self Stimulation, Spicy Food, Stereotyped Behaviour, Stereotypy, Stimming Behaviour, Teething Biscuit, Vegetable}, pubstate = {published}, tppubtype = {article} } |
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. |
Singh, Joginder S; Hussein, N H; Kamal, Mustaffa R; Hassan, F H Reflections of Malaysian parents of children with developmental disabilities on their experiences with AAC Journal Article AAC: Augmentative and Alternative Communication, 33 (2), pp. 110-120, 2017, ISSN: 07434618, (cited By 10). Abstract | Links | BibTeX | Tags: Adult, Attitude to Health, Augmentative and Alternative Communication, Children, Communication Aid, Communication Aids for Disabled, Communication Disorder, Communication Disorders, Developmental Disabilities, Developmental Disorders, Disabilities, Diseases, Family, Female, Human, Human Rehabilitation Engineering, Malaysia, Male, Middle Aged, Parents, Preschool, Preschool Child, Qualitative Research @article{JoginderSingh2017110, title = {Reflections of Malaysian parents of children with developmental disabilities on their experiences with AAC}, author = {S Joginder Singh and N H Hussein and R Mustaffa Kamal and F H Hassan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85017131769&doi=10.1080%2f07434618.2017.1309457&partnerID=40&md5=067c39e0c318e76caff96b29bb4dbb21}, doi = {10.1080/07434618.2017.1309457}, issn = {07434618}, year = {2017}, date = {2017-01-01}, journal = {AAC: Augmentative and Alternative Communication}, volume = {33}, number = {2}, pages = {110-120}, publisher = {Taylor and Francis Ltd}, abstract = {Parents play an important role in the successful implementation of AAC. Previous research has indicated that parents in different countries have varying perceptions about the use of AAC and face different challenges in its implementation. To date, there is limited information about the use of AAC by children in Malaysia or parents’ views about its use. The aim of this study was to explore Malaysian parents’ perception of AAC and their experience when supporting their children who use AAC. For this study, 12 parents of children with autism spectrum disorder and cerebral palsy were involved in semi-structured individual interviews. Qualitative content analysis was used to analyze interview data. Following analysis, three themes were identified: (a) impact of the use of AAC, (b) challenges faced, and (c) hopes and expectations. Participants reported that the use of AAC had a positive impact on their children, but that they faced challenges related to the child, the settings, and the system itself, as well as a lack of time and support. Findings from this study provide an insight for Malaysian speech therapists about the challenges faced by parents when supporting their children who use AAC, and how important it is to overcome these challenges to ensure successful implementation of AAC. © 2017 International Society for Augmentative and Alternative Communication.}, note = {cited By 10}, keywords = {Adult, Attitude to Health, Augmentative and Alternative Communication, Children, Communication Aid, Communication Aids for Disabled, Communication Disorder, Communication Disorders, Developmental Disabilities, Developmental Disorders, Disabilities, Diseases, Family, Female, Human, Human Rehabilitation Engineering, Malaysia, Male, Middle Aged, Parents, Preschool, Preschool Child, Qualitative Research}, pubstate = {published}, tppubtype = {article} } Parents play an important role in the successful implementation of AAC. Previous research has indicated that parents in different countries have varying perceptions about the use of AAC and face different challenges in its implementation. To date, there is limited information about the use of AAC by children in Malaysia or parents’ views about its use. The aim of this study was to explore Malaysian parents’ perception of AAC and their experience when supporting their children who use AAC. For this study, 12 parents of children with autism spectrum disorder and cerebral palsy were involved in semi-structured individual interviews. Qualitative content analysis was used to analyze interview data. Following analysis, three themes were identified: (a) impact of the use of AAC, (b) challenges faced, and (c) hopes and expectations. Participants reported that the use of AAC had a positive impact on their children, but that they faced challenges related to the child, the settings, and the system itself, as well as a lack of time and support. Findings from this study provide an insight for Malaysian speech therapists about the challenges faced by parents when supporting their children who use AAC, and how important it is to overcome these challenges to ensure successful implementation of AAC. © 2017 International Society for Augmentative and Alternative Communication. |
Charara, R; Forouzanfar, M; Naghavi, M; Moradi-Lakeh, M; Afshin, A; Vos, T; Daoud, F; Wang, H; Bcheraoui, C E; Khalil, I; Hamadeh, R R; Khosravi, A; Rahimi-Movaghar, V; Khader, Y; Al-Hamad, N; Obermeyer, C M; Rafay, A; Asghar, R; Rana, S M; Shaheen, A; Abu-Rmeileh, N M E; Husseini, A; Abu-Raddad, L J; Khoja, T; Rayess, Z A A; AlBuhairan, F S; Hsairi, M; Alomari, M A; Ali, R; Roshandel, G; Terkawi, A S; Hamidi, S; Refaat, A H; Westerman, R; Kiadaliri, A A; Akanda, A S; Ali, S D; Bacha, U; Badawi, A; Bazargan-Hejazi, S; Faghmous, I A D; Fereshtehnejad, S -M; Fischer, F; Jonas, J B; Defo, B K; Mehari, A; Omer, S B; Pourmalek, F; Uthman, O A; Mokdad, A A; Maalouf, F T; Abd-Allah, F; Akseer, N; Arya, D; Borschmann, R; Brazinova, A; Brugha, T S; Catala-Lopez, F; Degenhardt, L; Ferrari, A; Haro, J M; Horino, M; Hornberger, J C; Huang, H; Kieling, C; Kim, D; Kim, Y; Knudsen, A K; Mitchell, P B; Patton, G; Sagar, R; Satpathy, M; Savuon, K; Seedat, S; Shiue, I; Skogen, J C; Stein, D J; Tabb, K M; Whiteford, H A; Yip, P; Yonemoto, N; Murray, C J L; Mokdad, A H The burden of mental disorders in the eastern mediterranean region, 1990-2013 Journal Article PLoS ONE, 12 (1), 2017, ISSN: 19326203, (cited By 30). Abstract | Links | BibTeX | Tags: 80 and Over, Adolescent, Adult, Age, Age Factors, Aged, Anxiety Disorder, Article, Attention Deficit Disorder, Autism, Bipolar Disorder, Children, Conduct Disorder, Depression, Elderly People, Female, Global Health, Groups by Age, Health Status, Highest Income Group, Human, Infant, Intellectual Impairment, Kuwait, Life Expectancy, Major Clinical Study, Male, Mediterranean Region, Mental Disease, Mental Disorders, Mental Health, Mental Health Service, Middle Aged, Middle Income Group, Mortality, Newborn, Palestine, Premature Mortality, Preschool, Preschool Child, Prevalence, Qatar, Quality Adjusted Life Year, Schizophrenia, Sex Difference, Sex Factors, Southern Europe, Time Factor, Time Factors, United Arab Emirates, Young Adult @article{Charara2017, title = {The burden of mental disorders in the eastern mediterranean region, 1990-2013}, author = {R Charara and M Forouzanfar and M Naghavi and M Moradi-Lakeh and A Afshin and T Vos and F Daoud and H Wang and C E Bcheraoui and I Khalil and R R Hamadeh and A Khosravi and V Rahimi-Movaghar and Y Khader and N Al-Hamad and C M Obermeyer and A Rafay and R Asghar and S M Rana and A Shaheen and N M E Abu-Rmeileh and A Husseini and L J Abu-Raddad and T Khoja and Z A A Rayess and F S AlBuhairan and M Hsairi and M A Alomari and R Ali and G Roshandel and A S Terkawi and S Hamidi and A H Refaat and R Westerman and A A Kiadaliri and A S Akanda and S D Ali and U Bacha and A Badawi and S Bazargan-Hejazi and I A D Faghmous and S -M Fereshtehnejad and F Fischer and J B Jonas and B K Defo and A Mehari and S B Omer and F Pourmalek and O A Uthman and A A Mokdad and F T Maalouf and F Abd-Allah and N Akseer and D Arya and R Borschmann and A Brazinova and T S Brugha and F Catala-Lopez and L Degenhardt and A Ferrari and J M Haro and M Horino and J C Hornberger and H Huang and C Kieling and D Kim and Y Kim and A K Knudsen and P B Mitchell and G Patton and R Sagar and M Satpathy and K Savuon and S Seedat and I Shiue and J C Skogen and D J Stein and K M Tabb and H A Whiteford and P Yip and N Yonemoto and C J L Murray and A H Mokdad}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85009892168&doi=10.1371%2fjournal.pone.0169575&partnerID=40&md5=471830ec1239e37c6fc4681bed5698f6}, doi = {10.1371/journal.pone.0169575}, issn = {19326203}, year = {2017}, date = {2017-01-01}, journal = {PLoS ONE}, volume = {12}, number = {1}, publisher = {Public Library of Science}, abstract = {The Eastern Mediterranean Region (EMR) is witnessing an increase in chronic disorders, including mental illness. With ongoing unrest, this is expected to rise. This is the first study to quantify the burden of mental disorders in the EMR. We used data from the Global Burden of Disease study (GBD) 2013. DALYs (disability-adjusted life years) allow assessment of both premature mortality (years of life lost-YLLs) and nonfatal outcomes (years lived with disability-YLDs). DALYs are computed by adding YLLs and YLDs for each age-sex-country group. In 2013, mental disorders contributed to 5.6% of the total disease burden in the EMR (1894 DALYS/100,000 population): 2519 DALYS/100,000 (2590/100,000 males, 2426/100,000 females) in high-income countries, 1884 DALYS/100,000 (1618/100,000 males, 2157/100,000 females) in middle-income countries, 1607 DALYS/100,000 (1500/100,000 males, 1717/100,000 females) in low-income countries. Females had a greater proportion of burden due to mental disorders than did males of equivalent ages, except for those under 15 years of age. The highest proportion of DALYs occurred in the 25-49 age group, with a peak in the 35-39 years age group (5344 DALYs/100,000). The burden of mental disorders Burden of Mental Disorders in EMR PLOS ONE in EMR increased from 1726 DALYs/100,000 in 1990 to 1912 DALYs/100,000 in 2013 (10.8% increase). Within the mental disorders group in EMR, depressive disorders accounted for most DALYs, followed by anxiety disorders. Among EMR countries, Palestine had the largest burden of mental disorders. Nearly all EMR countries had a higher mental disorder burden compared to the global level. Our findings call for EMR ministries of health to increase provision of mental health services and to address the stigma of mental illness. Moreover, our results showing the accelerating burden of mental health are alarming as the region is seeing an increased level of instability. Indeed, mental health problems, if not properly addressed, will lead to an increased burden of diseases in the region. © 2017 Charara et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.}, note = {cited By 30}, keywords = {80 and Over, Adolescent, Adult, Age, Age Factors, Aged, Anxiety Disorder, Article, Attention Deficit Disorder, Autism, Bipolar Disorder, Children, Conduct Disorder, Depression, Elderly People, Female, Global Health, Groups by Age, Health Status, Highest Income Group, Human, Infant, Intellectual Impairment, Kuwait, Life Expectancy, Major Clinical Study, Male, Mediterranean Region, Mental Disease, Mental Disorders, Mental Health, Mental Health Service, Middle Aged, Middle Income Group, Mortality, Newborn, Palestine, Premature Mortality, Preschool, Preschool Child, Prevalence, Qatar, Quality Adjusted Life Year, Schizophrenia, Sex Difference, Sex Factors, Southern Europe, Time Factor, Time Factors, United Arab Emirates, Young Adult}, pubstate = {published}, tppubtype = {article} } The Eastern Mediterranean Region (EMR) is witnessing an increase in chronic disorders, including mental illness. With ongoing unrest, this is expected to rise. This is the first study to quantify the burden of mental disorders in the EMR. We used data from the Global Burden of Disease study (GBD) 2013. DALYs (disability-adjusted life years) allow assessment of both premature mortality (years of life lost-YLLs) and nonfatal outcomes (years lived with disability-YLDs). DALYs are computed by adding YLLs and YLDs for each age-sex-country group. In 2013, mental disorders contributed to 5.6% of the total disease burden in the EMR (1894 DALYS/100,000 population): 2519 DALYS/100,000 (2590/100,000 males, 2426/100,000 females) in high-income countries, 1884 DALYS/100,000 (1618/100,000 males, 2157/100,000 females) in middle-income countries, 1607 DALYS/100,000 (1500/100,000 males, 1717/100,000 females) in low-income countries. Females had a greater proportion of burden due to mental disorders than did males of equivalent ages, except for those under 15 years of age. The highest proportion of DALYs occurred in the 25-49 age group, with a peak in the 35-39 years age group (5344 DALYs/100,000). The burden of mental disorders Burden of Mental Disorders in EMR PLOS ONE in EMR increased from 1726 DALYs/100,000 in 1990 to 1912 DALYs/100,000 in 2013 (10.8% increase). Within the mental disorders group in EMR, depressive disorders accounted for most DALYs, followed by anxiety disorders. Among EMR countries, Palestine had the largest burden of mental disorders. Nearly all EMR countries had a higher mental disorder burden compared to the global level. Our findings call for EMR ministries of health to increase provision of mental health services and to address the stigma of mental illness. Moreover, our results showing the accelerating burden of mental health are alarming as the region is seeing an increased level of instability. Indeed, mental health problems, if not properly addressed, will lead to an increased burden of diseases in the region. © 2017 Charara et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
2015 |
Banire, B; Jomhari, N; Ahmad, R Visual Hybrid Development Learning System (VHDLS) Framework for Children with Autism Journal Article Journal of Autism and Developmental Disorders, 45 (10), pp. 3069-3084, 2015, ISSN: 01623257, (cited By 7). Abstract | Links | BibTeX | Tags: Article, Attention, Autism, Autism Spectrum Disorders, Children, Computer Interface, Education, Education of Intellectually Disabled, Educational Model, Feedback System, Female, Human, Learning, Male, Models, Occupational Therapist, Preschool, Preschool Child, Priority Journal, Procedures, Psychology, Quality of Life, Treatment Duration, User Interfaces, Visual Hybrid Development Learning System, Visual Stimulation @article{Banire20153069, title = {Visual Hybrid Development Learning System (VHDLS) Framework for Children with Autism}, author = {B Banire and N Jomhari and R Ahmad}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84941942795&doi=10.1007%2fs10803-015-2469-7&partnerID=40&md5=3c5ecc776725aea4e585e17a1ae805c7}, doi = {10.1007/s10803-015-2469-7}, issn = {01623257}, year = {2015}, date = {2015-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {45}, number = {10}, pages = {3069-3084}, publisher = {Springer New York LLC}, abstract = {The effect of education on children with autism serves as a relative cure for their deficits. As a result of this, they require special techniques to gain their attention and interest in learning as compared to typical children. Several studies have shown that these children are visual learners. In this study, we proposed a Visual Hybrid Development Learning System (VHDLS) framework that is based on an instructional design model, multimedia cognitive learning theory, and learning style in order to guide software developers in developing learning systems for children with autism. The results from this study showed that the attention of children with autism increased more with the proposed VHDLS framework. © 2015, Springer Science+Business Media New York.}, note = {cited By 7}, keywords = {Article, Attention, Autism, Autism Spectrum Disorders, Children, Computer Interface, Education, Education of Intellectually Disabled, Educational Model, Feedback System, Female, Human, Learning, Male, Models, Occupational Therapist, Preschool, Preschool Child, Priority Journal, Procedures, Psychology, Quality of Life, Treatment Duration, User Interfaces, Visual Hybrid Development Learning System, Visual Stimulation}, pubstate = {published}, tppubtype = {article} } The effect of education on children with autism serves as a relative cure for their deficits. As a result of this, they require special techniques to gain their attention and interest in learning as compared to typical children. Several studies have shown that these children are visual learners. In this study, we proposed a Visual Hybrid Development Learning System (VHDLS) framework that is based on an instructional design model, multimedia cognitive learning theory, and learning style in order to guide software developers in developing learning systems for children with autism. The results from this study showed that the attention of children with autism increased more with the proposed VHDLS framework. © 2015, Springer Science+Business Media New York. |
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. |
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} } |
Tan, K L; Yadav, H Reassessment on the development of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 17-20, 2008, ISSN: 03005283, (cited By 5). Abstract | Links | BibTeX | Tags: Article, Autism, Child Development, Children, Clinical Assessment Tool, Cohort Analysis, Controlled Study, Developmental Disorders, Developmental Screening, Disabled Children, Down Syndrome, Family, Female, Follow Up, Human, Infant, Learning Disorder, Major Clinical Study, Malaysia, Male, Mental Deficiency, Patient Selection, Pediatric Rehabilitation, Preschool, Primary Health Care, Register, Speech Disorder, Statistical Significance @article{Tan200817, title = {Reassessment on the development of children with disability in Malaysia}, author = {K L Tan and H Yadav}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-49649115291&partnerID=40&md5=8838ddaa3d9906d8b696be13e88f1baa}, issn = {03005283}, year = {2008}, date = {2008-01-01}, journal = {Medical Journal of Malaysia}, volume = {63}, number = {1}, pages = {17-20}, abstract = {This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment.}, note = {cited By 5}, keywords = {Article, Autism, Child Development, Children, Clinical Assessment Tool, Cohort Analysis, Controlled Study, Developmental Disorders, Developmental Screening, Disabled Children, Down Syndrome, Family, Female, Follow Up, Human, Infant, Learning Disorder, Major Clinical Study, Malaysia, Male, Mental Deficiency, Patient Selection, Pediatric Rehabilitation, Preschool, Primary Health Care, Register, Speech Disorder, Statistical Significance}, pubstate = {published}, tppubtype = {article} } This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment. |
2019 |
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). |
BMC Complementary and Alternative Medicine, 19 (1), 2019, ISSN: 14726882, (cited By 0). |
Perceived stress among caregivers of children with autism spectrum disorder: A state-wide study Journal Article International Journal of Environmental Research and Public Health, 16 (8), 2019, ISSN: 16617827, (cited By 0). |
2018 |
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). |
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). |
Stimming behaviour in a 4-year-old girl with autism spectrum disorder Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). |
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). |
Reflections of Malaysian parents of children with developmental disabilities on their experiences with AAC Journal Article AAC: Augmentative and Alternative Communication, 33 (2), pp. 110-120, 2017, ISSN: 07434618, (cited By 10). |
The burden of mental disorders in the eastern mediterranean region, 1990-2013 Journal Article PLoS ONE, 12 (1), 2017, ISSN: 19326203, (cited By 30). |
2015 |
Visual Hybrid Development Learning System (VHDLS) Framework for Children with Autism Journal Article Journal of Autism and Developmental Disorders, 45 (10), pp. 3069-3084, 2015, ISSN: 01623257, (cited By 7). |
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). |
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). |
Reassessment on the development of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 17-20, 2008, ISSN: 03005283, (cited By 5). |