@article{Pichitpunpong2019,
title = {Phenotypic subgrouping and multi-omics analyses reveal reduced diazepam-binding inhibitor (DBI) protein levels in autism spectrum disorder with severe language impairment},
author = {C Pichitpunpong and S Thongkorn and S Kanlayaprasit and W Yuwattana and W Plaingam and S Sangsuthum and W M Aizat and S N Baharum and T Tencomnao and V W Hu and T Sarachana},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063617126&doi=10.1371%2fjournal.pone.0214198&partnerID=40&md5=0a4c25481edee56984a59de94fedc414},
doi = {10.1371/journal.pone.0214198},
issn = {19326203},
year = {2019},
date = {2019-01-01},
journal = {PLoS ONE},
volume = {14},
number = {3},
publisher = {Public Library of Science},
abstract = {Background The mechanisms underlying autism spectrum disorder (ASD) remain unclear, and clinical biomarkers are not yet available for ASD. Differences in dysregulated proteins in ASD have shown little reproducibility, which is partly due to ASD heterogeneity. Recent studies have demonstrated that subgrouping ASD cases based on clinical phenotypes is useful for identifying candidate genes that are dysregulated in ASD subgroups. However, this strategy has not been employed in proteome profiling analyses to identify ASD biomarker proteins for specific subgroups. Methods We therefore conducted a cluster analysis of the Autism Diagnostic Interview-Revised (ADI-R) scores from 85 individuals with ASD to predict subgroups and subsequently identified dysregulated genes by reanalyzing the transcriptome profiles of individuals with ASD and unaffected individuals. Proteome profiling of lymphoblastoid cell lines from these individuals was performed via 2D-gel electrophoresis, and then mass spectrometry. Disrupted proteins were identified and compared to the dysregulated transcripts and reported dysregulated proteins from previous proteome studies. Biological functions were predicted using the
Ingenuity Pathway Analysis (IPA) program. Selected proteins were also analyzed by Western blotting. Results The cluster analysis of ADI-R data revealed four ASD subgroups, including ASD with severe language impairment, and transcriptome profiling identified dysregulated genes in each subgroup. Screening via proteome analysis revealed 82 altered proteins in the ASD subgroup with severe language impairment. Eighteen of these proteins were further identified by nano-LC-MS/MS. Among these proteins, fourteen were predicted by IPA to be associated with neurological functions and inflammation. Among these proteins, diazepam-binding inhibitor (DBI) protein was confirmed by Western blot analysis to be expressed at significantly decreased levels in the ASD subgroup with severe language impairment, and the DBI expression levels were correlated with the scores of several ADI-R items. Conclusions By subgrouping individuals with ASD based on clinical phenotypes, and then performing an integrated transcriptome-proteome analysis, we identified DBI as a novel candidate protein for ASD with severe language impairment. The mechanisms of this protein and its potential use as an ASD biomarker warrant further study. © 2019 Pichitpunpong 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 4},
keywords = {Article, Autism, Autism Spectrum Disorders, Binding Protein, Biological Marker, Biomarkers, Cell Line, Controlled Study, Developmental Disorders, Developmental Language Disorder, Diazepam Binding Inhibitor, Diazepam Binding Inhibitor Protein, Disease Severity, Female, Genetic Analysis, Human, Human Cell, Inflammation, Language Development Disorders, Language Disability, Liquid Chromatography-Mass Spectrometry, Lymphoblastoid Cell, Major Clinical Study, Male, Metabolism, Phenotype, Protein Analysis, Protein Expression, Protein Function, Proteome, Proteomics, Transcription Regulation, Transcriptome, Unclassified Drug, Western Blotting},
pubstate = {published},
tppubtype = {article}
}

@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}
}

@article{Bhagat20157,
title = {Parent’s self-efficacy, emotionality, and intellectual ability impacting the intervention of autism spectrum disorders: A review proposed model for appraisal of intervention},
author = {V Bhagat and J Jayaraj and M Haque},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84946575464&partnerID=40&md5=7384d5557b767097e456dee7c79128f7},
issn = {09751491},
year = {2015},
date = {2015-01-01},
journal = {International Journal of Pharmacy and Pharmaceutical Sciences},
volume = {7},
number = {11},
pages = {7-12},
publisher = {International Journal of Pharmacy and Pharmaceutical Science},
abstract = {Autism spectrum disorder (ASD) may affect all domains of a child’s life. Indeed, it impacts not only the child but also parents and siblings, causing disturbances in the family. The experience of parents with an autism spectrum disorder can be devastating; they have a demanding need to cope with complex situations in their lives. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parents in their life situations, thus, nudging them into distress which in turn incapacitate them and lowers their efficiency to deal with these situations thereby reducing their self-efficacy. These parents are found with disturbances in emotional and intellectual components of their personalities. They end up being shattered in their interpersonal relationship and family life. Indeed, these aspects of parental distress rank lower in position and the focus rests on the treatment of ASD. Thus, the management of ASD incapacitating the parents of the deficit children to reach their fullest abilities remains questionable. Therefore, the objectives of this study are a) to examine the impact of emotionality, intellectual ability and self-efficacy of the intervention of autism spectrum disorder. b) To propose a new intervention model for ASD incorporating self-efficacy, emotional and mental ability c) To suggest the integration of this new model with the current intervention regimens to ensure better efficacy. This study, based on past evidence has keenly, examined the correlation of intellectual ability, emotionality and self-efficacy with the intervention of autism spectrum disorder. The results reveal that emotional and intellectual disturbances and impaired self-efficacy in the parents of children with ASD have an adverse impact on the intervention of ASD. A new model of intervention for ASD encompassing the above-mentioned essential components of parents’ personality has been proposed, and its integration with the existing treatment regimens has been suggested to reap an improved outcome. The study concludes by observing the fact that considerable improvement in the diagnosed child may not ameliorate the parent and family distress already present, especially at the time and expense of intervention can be even more detrimental to the overall personality of the parents. The new proposed model of intervention can pave the way for further research in this regard. © 2015, International Journal of Pharmacy and Pharmaceutical Science. All rights reserved.},
note = {cited By 3},
keywords = {Anxiety, Autism, Caregiver, Child Behaviour, Child Parent Relation, Cognition, Coping Behaviour, Distress Syndrome, Emotion, Emotionality, Human, Intelligence, Mental Capacity, Parental Stress, Parents, Phenotype, Review, Self Concept},
pubstate = {published},
tppubtype = {article}
}

@article{Gallagher201531,
title = {Ankrd11 is a chromatin regulator involved in autism that is essential for neural development},
author = {D Gallagher and A Voronova and M A Zander and G I Cancino and A Bramall and M P Krause and C Abad and M Tekin and P M Neilsen and D F Callen and S W Scherer and G M Keller and D R Kaplan and K Walz and F D Miller},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84922343890&doi=10.1016%2fj.devcel.2014.11.031&partnerID=40&md5=ad7b8bd3ead790f092e1d8a276d4f25c},
doi = {10.1016/j.devcel.2014.11.031},
issn = {15345807},
year = {2015},
date = {2015-01-01},
journal = {Developmental Cell},
volume = {32},
number = {1},
pages = {31-42},
publisher = {Cell Press},
abstract = {Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. Here, we show that knockdown of Ankrd11 in developing murine or human cortical neural precursors caused decreased proliferation, reduced neurogenesis, andaberrant neuronal positioning. Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation inthe Ankrd11 HDAC-binding domain. Consistent with a role for Ankrd11 in histone acetylation, Ankrd11 was associated with chromatin and colocalized with HDAC3, and expression and histone acetylation of Ankrd11 target genes were altered in Yoda neural precursors. Moreover, the Ankrd11 knockdown-mediated decrease in precursor proliferation was rescued by inhibiting histone acetyltransferase activity or expressing HDAC3. Thus, Ankrd11 is a crucial chromatin regulator that controls histone acetylation and gene expression during neural development, thereby providing a likely explanation for its association with cognitive dysfunction and ASD. © 2015 Elsevier Inc.},
note = {cited By 52},
keywords = {Acetylation, Animal Behavior, Animal Cell, Animals, Ankrd11 Protein, Ankyrin, Ankyrin Repeat Domain Containing Protein 11, Article, Autism, Autism Spectrum Disorders, Behaviour, Biological Marker, Blotting, Brain Cell Culture, Cell Culture, Cell Differentiation, Cell Proliferation, Cells, Chemistry, Chromatin, Chromatin Immunoprecipitation, Cultured, DNA Binding Protein, DNA Microarray, DNA-Binding Proteins, Enzyme Activity, Female, Gene, Gene Expression Profiling, Gene Targeting, Genetics, Histone, Histone Acetylation, Histone Acetyltransferase, Histone Deacetylase, Histone Deacetylase 3, Histone Deacetylases, Histones, Human, Human Cell, Immunoprecipitation, Messenger, Messenger RNA, Metabolism, Mice, Mouse, Murinae, Mus, Nerve Cell Differentiation, Nervous System Development, Neurogenesis, Nonhuman, Oligonucleotide Array Sequence Analysis, Pathology, Phenotype, Physiology, Point Mutation, Post-Translational, Priority Journal, Protein Expression, Protein Processing, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Reverse Transcription Polymerase Chain Reaction, RNA, Small Interfering, Small Interfering RNA, Unclassified Drug, Western, Western Blotting},
pubstate = {published},
tppubtype = {article}
}

@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}
}

@article{Freeth20132569,
title = {A cross-cultural comparison of autistic traits in the UK, India and Malaysia},
author = {M Freeth and E Sheppard and R Ramachandran and E Milne},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84886802970&doi=10.1007%2fs10803-013-1808-9&partnerID=40&md5=d8acde51c0626be3862facc1d6bc493c},
doi = {10.1007/s10803-013-1808-9},
issn = {01623257},
year = {2013},
date = {2013-01-01},
journal = {Journal of Autism and Developmental Disorders},
volume = {43},
number = {11},
pages = {2569-2583},
abstract = {The disorder of autism is widely recognised throughout the world. However, the diagnostic criteria and theories of autism are based on research predominantly conducted in Western cultures. Here we compare the expression of autistic traits in a sample of neurotypical individuals from one Western culture (UK) and two Eastern cultures (India and Malaysia), using the Autism-spectrum Quotient (AQ) in order to identify possible cultural differences in the expression of autistic traits. Behaviours associated with autistic traits were reported to a greater extent in the Eastern cultures than the Western culture. Males scored higher than females and science students scored higher than non-science students in each culture. Indian students scored higher than both other groups on the Imagination sub-scale, Malaysian students scored higher than both other groups on the Attention Switching sub-scale. The underlying factor structures of the AQ for each population were derived and discussed. © 2013 Springer Science+Business Media New York.},
note = {cited By 39},
keywords = {Adolescent, Adult, Article, Asian Continental Ancestry Group, Attention, Autism, Autism Spectrum Disorders, Autism Spectrum Quotient, Communication Skills, Comparative Study, Cross-Cultural Comparison, Cultural Factor, Ethnicity, Female, Great Britain, Human, Human Experiment, Imagination, India, Indian, Malaysia, Male, Personality, Phenotype, Postgraduate Student, Priority Journal, Psychometry, Questionnaires, Sex Factors, Social Adaptation, Spectrum, Students, Undergraduate Student, United Kingdom, Young Adult},
pubstate = {published},
tppubtype = {article}
}

@article{Tan2012123,
title = {Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient},
author = {E H Tan and A A M Yusoff and J M Abdullah and S A Razak},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870194979&doi=10.4103%2f1817-1745.102575&partnerID=40&md5=b73f0bdb583e84404e0fff232faf30cb},
doi = {10.4103/1817-1745.102575},
issn = {18171745},
year = {2012},
date = {2012-01-01},
journal = {Journal of Pediatric Neurosciences},
volume = {7},
number = {2},
pages = {123-125},
abstract = {In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).},
note = {cited By 3},
keywords = {Adolescent, Anxiety Disorder, Article, Autism, Carbamazepine, Case Report, Computer Assisted Tomography, Electroencephalogram, Electroencephalography, Febrile Convulsion, Gene, Generalized Epilepsy, Generalized Epilepsy with Febrile Seizure Plus, Human, Karyotype, Malaysia, Male, Medical History, Mental Deficiency, Missense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, SCN1A Gene, Tonic Clonic Seizure, Topiramate, Valproic Acid},
pubstate = {published},
tppubtype = {article}
}