2020 |
Leong, D; Hedley, D; Uljarević, M Poh-tay-toe, Poh-tah-toe: Autism Diagnosis and Conceptualization Journal Article Journal of Child Neurology, 35 (3), pp. 247-248, 2020, ISSN: 08830738, (cited By 0). Links | BibTeX | Tags: Anxiety, Attention Deficit Disorder, Autism, Caregiver, Children, Clinical Article, Clinical Practice, Disruptive Behavior, DSM-5, Follow Up, Human, Learning Disorder, Letter, Mental Health, Mood Disorder, Multidisciplinary Team, Neuropsychiatry, Priority Journal, Unemployment, Workforce @article{Leong2020247, title = {Poh-tay-toe, Poh-tah-toe: Autism Diagnosis and Conceptualization}, author = {D Leong and D Hedley and M Uljarević}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85078570091&doi=10.1177%2f0883073819887587&partnerID=40&md5=f40e68dc7723d94e6c9dfeb9820558a4}, doi = {10.1177/0883073819887587}, issn = {08830738}, year = {2020}, date = {2020-01-01}, journal = {Journal of Child Neurology}, volume = {35}, number = {3}, pages = {247-248}, publisher = {SAGE Publications Inc.}, note = {cited By 0}, keywords = {Anxiety, Attention Deficit Disorder, Autism, Caregiver, Children, Clinical Article, Clinical Practice, Disruptive Behavior, DSM-5, Follow Up, Human, Learning Disorder, Letter, Mental Health, Mood Disorder, Multidisciplinary Team, Neuropsychiatry, Priority Journal, Unemployment, Workforce}, pubstate = {published}, tppubtype = {article} } |
2018 |
Masiran, R Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index @article{Masiran2018b, title = {Autism and trichotillomania in an adolescent boy}, author = {R Masiran}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053164449&doi=10.1136%2fbcr-2018-226270&partnerID=40&md5=7eed3f6af717df527dce73838feab571}, doi = {10.1136/bcr-2018-226270}, issn = {1757790X}, year = {2018}, date = {2018-01-01}, journal = {BMJ Case Reports}, volume = {2018}, publisher = {BMJ Publishing Group}, abstract = {An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018.}, note = {cited By 0}, keywords = {Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index}, pubstate = {published}, tppubtype = {article} } An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018. |
Tsuchida, N; Hamada, K; Shiina, M; Kato, M; Kobayashi, Y; Tohyama, J; Kimura, K; Hoshino, K; Ganesan, V; Teik, K W; Nakashima, M; Mitsuhashi, S; Mizuguchi, T; Takata, A; Miyake, N; Saitsu, H; Ogata, K; Miyatake, S; Matsumoto, N GRIN2D variants in three cases of developmental and epileptic encephalopathy Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). Abstract | Links | BibTeX | Tags: Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing @article{Tsuchida2018538, title = {GRIN2D variants in three cases of developmental and epileptic encephalopathy}, author = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&partnerID=40&md5=f0d32670db57261820bc244943cffd62}, doi = {10.1111/cge.13454}, issn = {00099163}, year = {2018}, date = {2018-01-01}, journal = {Clinical Genetics}, volume = {94}, number = {6}, pages = {538-547}, publisher = {Blackwell Publishing Ltd}, abstract = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd}, note = {cited By 4}, keywords = {Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing}, pubstate = {published}, tppubtype = {article} } N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
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 |
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. |
Hasan, C Z C; Jailani, R; Tahir, Md N; Ilias, S The analysis of three-dimensional ground reaction forces during gait in children with autism spectrum disorders Journal Article Research in Developmental Disabilities, 66 , pp. 55-63, 2017, ISSN: 08914222, (cited By 8). Abstract | Links | BibTeX | Tags: Age Distribution, Article, Autism, Autism Spectrum Disorders, Biomechanical Phenomena, Biomechanics, Body Equilibrium, Body Height, Body Mass, Body Weight, Children, Clinical Article, Controlled Study, Disease Assessment, Female, Gait, Gait Analysis, Gait Disorder, Ground Reaction Forces, Human, Imaging, Leg Length, Malaysia, Male, Neurologic Examination, Pathophysiology, Physiology, Postural Balance, Procedures, Psychology, Statistics, Three-Dimensional, Three-Dimensional Imaging, Three-Dimentional Ground Reaction Force, Walking @article{Hasan201755, title = {The analysis of three-dimensional ground reaction forces during gait in children with autism spectrum disorders}, author = {C Z C Hasan and R Jailani and N Md Tahir and S Ilias}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85015640386&doi=10.1016%2fj.ridd.2017.02.015&partnerID=40&md5=d6a9839cda7f62bcce9bdcca33d3d33b}, doi = {10.1016/j.ridd.2017.02.015}, issn = {08914222}, year = {2017}, date = {2017-01-01}, journal = {Research in Developmental Disabilities}, volume = {66}, pages = {55-63}, publisher = {Elsevier Inc.}, abstract = {Minimal information is known about the three-dimensional (3D) ground reaction forces (GRF) on the gait patterns of individuals with autism spectrum disorders (ASD). The purpose of this study was to investigate whether the 3D GRF components differ significantly between children with ASD and the peer controls. 15 children with ASD and 25 typically developing (TD) children had participated in the study. Two force plates were used to measure the 3D GRF data during walking. Time-series parameterization techniques were employed to extract 17 discrete features from the 3D GRF waveforms. By using independent t-test and Mann-Whitney U test, significant differences (p < 0.05) between the ASD and TD groups were found for four GRF features. Children with ASD demonstrated higher maximum braking force, lower relative time to maximum braking force, and lower relative time to zero force during mid-stance. Children with ASD were also found to have reduced the second peak of vertical GRF in the terminal stance. These major findings suggest that children with ASD experience significant difficulties in supporting their body weight and endure gait instability during the stance phase. The findings of this research are useful to both clinicians and parents who wish to provide these children with appropriate treatments and rehabilitation programs. © 2017 Elsevier Ltd}, note = {cited By 8}, keywords = {Age Distribution, Article, Autism, Autism Spectrum Disorders, Biomechanical Phenomena, Biomechanics, Body Equilibrium, Body Height, Body Mass, Body Weight, Children, Clinical Article, Controlled Study, Disease Assessment, Female, Gait, Gait Analysis, Gait Disorder, Ground Reaction Forces, Human, Imaging, Leg Length, Malaysia, Male, Neurologic Examination, Pathophysiology, Physiology, Postural Balance, Procedures, Psychology, Statistics, Three-Dimensional, Three-Dimensional Imaging, Three-Dimentional Ground Reaction Force, Walking}, pubstate = {published}, tppubtype = {article} } Minimal information is known about the three-dimensional (3D) ground reaction forces (GRF) on the gait patterns of individuals with autism spectrum disorders (ASD). The purpose of this study was to investigate whether the 3D GRF components differ significantly between children with ASD and the peer controls. 15 children with ASD and 25 typically developing (TD) children had participated in the study. Two force plates were used to measure the 3D GRF data during walking. Time-series parameterization techniques were employed to extract 17 discrete features from the 3D GRF waveforms. By using independent t-test and Mann-Whitney U test, significant differences (p < 0.05) between the ASD and TD groups were found for four GRF features. Children with ASD demonstrated higher maximum braking force, lower relative time to maximum braking force, and lower relative time to zero force during mid-stance. Children with ASD were also found to have reduced the second peak of vertical GRF in the terminal stance. These major findings suggest that children with ASD experience significant difficulties in supporting their body weight and endure gait instability during the stance phase. The findings of this research are useful to both clinicians and parents who wish to provide these children with appropriate treatments and rehabilitation programs. © 2017 Elsevier Ltd |
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 |
Cassidy, S; Ropar, D; Mitchell, P; Chapman, P Can adults with autism spectrum disorders infer what happened to someone from their emotional response? Journal Article Autism Research, 7 (1), pp. 112-123, 2014, ISSN: 19393792, (cited By 21). Abstract | Links | BibTeX | Tags: Accuracy, Adult, Aged, Article, Asperger Syndrome, Attention, Autism, Behaviour, Cacao, Child Development Disorders, Clinical Article, Concept Formation, Controlled Study, Deception, Discrimination (Psychology), Emotion, Eye Movement, Eye Tracking, Face Processing, Facial Expression, Female, Human, Interpersonal Relations, Male, Middle Aged, Money, Pervasive, Priority Journal, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Young Adult @article{Cassidy2014112, title = {Can adults with autism spectrum disorders infer what happened to someone from their emotional response?}, author = {S Cassidy and D Ropar and P Mitchell and P Chapman}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84894307909&doi=10.1002%2faur.1351&partnerID=40&md5=8c6736bc006e9eebde29427879d023c3}, doi = {10.1002/aur.1351}, issn = {19393792}, year = {2014}, date = {2014-01-01}, journal = {Autism Research}, volume = {7}, number = {1}, pages = {112-123}, publisher = {John Wiley and Sons Inc.}, abstract = {Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.}, note = {cited By 21}, keywords = {Accuracy, Adult, Aged, Article, Asperger Syndrome, Attention, Autism, Behaviour, Cacao, Child Development Disorders, Clinical Article, Concept Formation, Controlled Study, Deception, Discrimination (Psychology), Emotion, Eye Movement, Eye Tracking, Face Processing, Facial Expression, Female, Human, Interpersonal Relations, Male, Middle Aged, Money, Pervasive, Priority Journal, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Young Adult}, pubstate = {published}, tppubtype = {article} } Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Wiley Periodicals, Inc. |
Brett, M; McPherson, J; Zang, Z J; Lai, A; Tan, E -S; Ng, I; Ong, L -C; Cham, B; Tan, P; Rozen, S; Tan, E -C PLoS ONE, 9 (4), 2014, ISSN: 19326203, (cited By 20). Abstract | Links | BibTeX | Tags: Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism @article{Brett2014, title = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel}, author = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371%2fjournal.pone.0093409&partnerID=40&md5=f673e204a009bf84de81ea69dcd026db}, doi = {10.1371/journal.pone.0093409}, issn = {19326203}, year = {2014}, date = {2014-01-01}, journal = {PLoS ONE}, volume = {9}, number = {4}, publisher = {Public Library of Science}, abstract = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.}, note = {cited By 20}, keywords = {Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism}, pubstate = {published}, tppubtype = {article} } Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al. |
Pillai, D; Sheppard, E; Ropar, D; Marsh, L; Pearson, A; Mitchell, P Using other minds as a window onto the world: Guessing what happened from clues in behaviour Journal Article Journal of Autism and Developmental Disorders, 44 (10), pp. 2430-2439, 2014, ISSN: 01623257, (cited By 17). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Autism, Child Development Disorders, Children, Clinical Article, Cognition, Controlled Study, Eye Movement, Eye Tracking, Facial Expression, Gaze, Human, Intelligence Quotient, Male, Measurement Accuracy, Mouth, Pathophysiology, Pervasive, Physiology, Psychological Aspect, Psychology, Retrodiction, Task Performance, Theory of Mind, Verbal Communication, Video Recording, Videotape Recording, Young Adult @article{Pillai20142430, title = {Using other minds as a window onto the world: Guessing what happened from clues in behaviour}, author = {D Pillai and E Sheppard and D Ropar and L Marsh and A Pearson and P Mitchell}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84912053354&doi=10.1007%2fs10803-014-2106-x&partnerID=40&md5=c3396f6f468e37e253c657f998993859}, doi = {10.1007/s10803-014-2106-x}, issn = {01623257}, year = {2014}, date = {2014-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {44}, number = {10}, pages = {2430-2439}, publisher = {Springer New York LLC}, abstract = {It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four ‘‘scenarios’’ each person responded to. Participants’ eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction. © Springer Science+Business Media New York 2014.}, note = {cited By 17}, keywords = {Adolescent, Adult, Article, Autism, Child Development Disorders, Children, Clinical Article, Cognition, Controlled Study, Eye Movement, Eye Tracking, Facial Expression, Gaze, Human, Intelligence Quotient, Male, Measurement Accuracy, Mouth, Pathophysiology, Pervasive, Physiology, Psychological Aspect, Psychology, Retrodiction, Task Performance, Theory of Mind, Verbal Communication, Video Recording, Videotape Recording, Young Adult}, pubstate = {published}, tppubtype = {article} } It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four ‘‘scenarios’’ each person responded to. Participants’ eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction. © Springer Science+Business Media New York 2014. |
2013 |
Mousavizadeh, K; Askari, M; Arian, H; Gorjipour, F; Nikpour, A R; Tavafjadid, M; Aryani, O; Kamalidehghan, B; Maroof, H R; Houshmand, M Association of human mtDNA mutations with autism in Iranian patients Journal Article Journal of Research in Medical Sciences, 18 (10), pp. 926, 2013, ISSN: 17351995, (cited By 2). Links | BibTeX | Tags: Autism, Clinical Article, Controlled Study, Gene, Gene Frequency, Gene Mutation, Gene Sequence, Genetic Association, Genetic Risk, Human, Letter, Mitochondrial DNA, Molecular Phylogeny, Pathophysiology, Point Mutation, Polymerase Chain Reaction @article{Mousavizadeh2013926, title = {Association of human mtDNA mutations with autism in Iranian patients}, author = {K Mousavizadeh and M Askari and H Arian and F Gorjipour and A R Nikpour and M Tavafjadid and O Aryani and B Kamalidehghan and H R Maroof and M Houshmand}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84887270916&partnerID=40&md5=3922601b0364489a2b76d620316cc150}, issn = {17351995}, year = {2013}, date = {2013-01-01}, journal = {Journal of Research in Medical Sciences}, volume = {18}, number = {10}, pages = {926}, publisher = {Isfahan University of Medical Sciences(IUMS)}, note = {cited By 2}, keywords = {Autism, Clinical Article, Controlled Study, Gene, Gene Frequency, Gene Mutation, Gene Sequence, Genetic Association, Genetic Risk, Human, Letter, Mitochondrial DNA, Molecular Phylogeny, Pathophysiology, Point Mutation, Polymerase Chain Reaction}, pubstate = {published}, tppubtype = {article} } |
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. |
2012 |
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. |
2010 |
Sheppard, E; Ropar, D; Underwood, G; Loon, Van E Brief report: Driving hazard perception in autism Journal Article Journal of Autism and Developmental Disorders, 40 (4), pp. 504-508, 2010, ISSN: 01623257, (cited By 42). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Association, Autism, Autism Spectrum Disorders, Automobile Driving, Car Driving, Case-Control Studies, Clinical Article, Controlled Study, Hazard Assessment, Human, Information Processing, Intelligence Quotient, Male, Mental Health, Motor Dysfunction, Neuropsychological Tests, Perception, Photic Stimulation, Priority Journal, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Visual Perception, Visual Stimulation, Young Adult @article{Sheppard2010504, title = {Brief report: Driving hazard perception in autism}, author = {E Sheppard and D Ropar and G Underwood and E Van Loon}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77954458984&doi=10.1007%2fs10803-009-0890-5&partnerID=40&md5=f0036a737ebb461359baf1bd8b388b23}, doi = {10.1007/s10803-009-0890-5}, issn = {01623257}, year = {2010}, date = {2010-01-01}, journal = {Journal of Autism and Developmental Disorders}, volume = {40}, number = {4}, pages = {504-508}, abstract = {This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (social); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00}, note = {cited By 42}, keywords = {Adolescent, Adult, Article, Association, Autism, Autism Spectrum Disorders, Automobile Driving, Car Driving, Case-Control Studies, Clinical Article, Controlled Study, Hazard Assessment, Human, Information Processing, Intelligence Quotient, Male, Mental Health, Motor Dysfunction, Neuropsychological Tests, Perception, Photic Stimulation, Priority Journal, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Visual Perception, Visual Stimulation, Young Adult}, pubstate = {published}, tppubtype = {article} } This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (social); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00 |
2020 |
Poh-tay-toe, Poh-tah-toe: Autism Diagnosis and Conceptualization Journal Article Journal of Child Neurology, 35 (3), pp. 247-248, 2020, ISSN: 08830738, (cited By 0). |
2018 |
Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). |
GRIN2D variants in three cases of developmental and epileptic encephalopathy Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). |
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 |
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). |
The analysis of three-dimensional ground reaction forces during gait in children with autism spectrum disorders Journal Article Research in Developmental Disabilities, 66 , pp. 55-63, 2017, ISSN: 08914222, (cited By 8). |
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 |
Can adults with autism spectrum disorders infer what happened to someone from their emotional response? Journal Article Autism Research, 7 (1), pp. 112-123, 2014, ISSN: 19393792, (cited By 21). |
PLoS ONE, 9 (4), 2014, ISSN: 19326203, (cited By 20). |
Using other minds as a window onto the world: Guessing what happened from clues in behaviour Journal Article Journal of Autism and Developmental Disorders, 44 (10), pp. 2430-2439, 2014, ISSN: 01623257, (cited By 17). |
2013 |
Association of human mtDNA mutations with autism in Iranian patients Journal Article Journal of Research in Medical Sciences, 18 (10), pp. 926, 2013, ISSN: 17351995, (cited By 2). |
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). |
2012 |
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). |
2010 |
Brief report: Driving hazard perception in autism Journal Article Journal of Autism and Developmental Disorders, 40 (4), pp. 504-508, 2010, ISSN: 01623257, (cited By 42). |