@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{Kasmini1995641,
title = {Asperger's syndrome: a report of two cases from Malaysia.},
author = {K Kasmini and S Zasmani},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-0029445569&partnerID=40&md5=6280382e5c679f84eea178a916b2e19f},
issn = {00375675},
year = {1995},
date = {1995-01-01},
journal = {Singapore medical journal},
volume = {36},
number = {6},
pages = {641-643},
abstract = {Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0.4 per 10,000 in those with mild mental retardation. The syndrome now has its own clinical entity and diagnostic criteria. It is being officially listed in the ICD-10 under pervasive developmental disorder. Two such cases are described in this article. Case One lacked the ability to relate to others, was excessively preoccupied with the late actor P. Ramlee and demonstrated a peculiar behaviour of holding on to toothbrushes in his early childhood. Cognitively, he was unable to synthesise words into meaningful sentences. Similarly, Case Two was unable to relate well to others and was preoccupied with the planets and its constellations. Though he appeared intelligent with an IQ score of 101, he was unable to follow instructions at school. Both children had motor clumsiness and fulfilled the criteria for the diagnosis of Asperger's Syndrome.},
note = {cited By 2},
keywords = {Article, Autism, Autism Spectrum Disorders, Case Report, Child Development Disorders, Children, Classification (of information), Human, Language Development Disorders, Language Disability, Malaysia, Male, Pervasive, Psychiatric Status Rating Scales, Psychological Aspect, Psychological Rating Scale, Social Behaviour, Stereotyped Behaviour, Stereotypy, Syndrome},
pubstate = {published},
tppubtype = {article}
}