2020 |
Eow, S Y; Gan, W Y; Lim, P Y; Awang, H; Shariff, Mohd Z Factors associated with autism severity among Malaysian children with Autism Spectrum Disorder Journal Article Research in Developmental Disabilities, 100 , 2020, ISSN: 08914222, (cited By 0). Abstract | Links | BibTeX | Tags: Article, Autism, Body Weight, Children, Cross-Sectional Study, Demography, Disease Association, Disease Severity, Employment, Female, Human, Lifestyle, Major Clinical Study, Malaysia, Malaysian, Male, Parents, Preschool Child, School Child, Social Status @article{Eow2020, title = {Factors associated with autism severity among Malaysian children with Autism Spectrum Disorder}, author = {S Y Eow and W Y Gan and P Y Lim and H Awang and Z Mohd Shariff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85081212440&doi=10.1016%2fj.ridd.2020.103632&partnerID=40&md5=a2814a66b9d649278ea7f764ed7e4125}, doi = {10.1016/j.ridd.2020.103632}, issn = {08914222}, year = {2020}, date = {2020-01-01}, journal = {Research in Developmental Disabilities}, volume = {100}, publisher = {Elsevier Inc.}, abstract = {Background: Children with Autism Spectrum Disorder (ASD) of different levels of symptom severity may exhibit a wide range of behaviours and characteristics. There is a limited nutrition-related study on children with ASD of different severity in Malaysia. Aims: This cross-sectional study aims to determine the association between sociodemographic factors, parental factors, and lifestyle factors with autism severity in children with ASD. Methods and procedures: A total of 224 children with ASD were included in this study. Their mothers completed a self-administered questionnaire on sociodemographic characteristics, autism severity, parenting style, parental feeding practices, parenting stress, child's sleep habits and eating behaviours. Outcomes and results: As high as 78.1 % of the children with ASD demonstrated a high level of autism severity. Multiple linear regression showed that father's employment status (B = 6.970, 95 % CI = 3.172, 10.768, p < 0.001) and perceived child weight (B = 3.338, 95 % CI = 1.350, 5.327}, note = {cited By 0}, keywords = {Article, Autism, Body Weight, Children, Cross-Sectional Study, Demography, Disease Association, Disease Severity, Employment, Female, Human, Lifestyle, Major Clinical Study, Malaysia, Malaysian, Male, Parents, Preschool Child, School Child, Social Status}, pubstate = {published}, tppubtype = {article} } Background: Children with Autism Spectrum Disorder (ASD) of different levels of symptom severity may exhibit a wide range of behaviours and characteristics. There is a limited nutrition-related study on children with ASD of different severity in Malaysia. Aims: This cross-sectional study aims to determine the association between sociodemographic factors, parental factors, and lifestyle factors with autism severity in children with ASD. Methods and procedures: A total of 224 children with ASD were included in this study. Their mothers completed a self-administered questionnaire on sociodemographic characteristics, autism severity, parenting style, parental feeding practices, parenting stress, child's sleep habits and eating behaviours. Outcomes and results: As high as 78.1 % of the children with ASD demonstrated a high level of autism severity. Multiple linear regression showed that father's employment status (B = 6.970, 95 % CI = 3.172, 10.768, p < 0.001) and perceived child weight (B = 3.338, 95 % CI = 1.350, 5.327 |
2019 |
Pichitpunpong, C; Thongkorn, S; Kanlayaprasit, S; Yuwattana, W; Plaingam, W; Sangsuthum, S; Aizat, W M; Baharum, S N; Tencomnao, T; Hu, V W; Sarachana, T PLoS ONE, 14 (3), 2019, ISSN: 19326203, (cited By 4). Abstract | Links | BibTeX | Tags: 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 @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} } 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. |
2016 |
Bhagat, V; Mat, Khairi Che H J; Husain, R; Haque, M International Journal of Pharmaceutical Sciences Review and Research, 36 (1), pp. 54-62, 2016, ISSN: 0976044X, (cited By 0). Abstract | Links | BibTeX | Tags: Autism, Children, Disease Severity, Emotion, Emotionality, Evidence-based Practice, Human, Human Relation, Intervention Study, Negative Emotionality, Parent Counseling, Parental Attitude, Parenting Education, Personality Assessment, Review, Social Status, Stress @article{Bhagat201654, title = {Parent’s negative emotionality impacting parenting and involvement in the intervention of their child with autism spectrum disorder: A review proposed the new model for intervention}, author = {V Bhagat and H J Khairi Che Mat and R Husain and M Haque}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84957597820&partnerID=40&md5=40212e84a1b6be6ade2617d5c9df29a9}, issn = {0976044X}, year = {2016}, date = {2016-01-01}, journal = {International Journal of Pharmaceutical Sciences Review and Research}, volume = {36}, number = {1}, pages = {54-62}, publisher = {Global Research Online}, abstract = {Raising a child with an autism spectrum disorder (ASD) is a challenging for their parents. Child’s life with this disease is severely affected. 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 distressing; they have a critical 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, this in turn distress them deliberately and further restrict them in the ways of child rearing and to give the best of themselves. These parents are found with negative emotionality in their personality component. They end up being shattered in their interpersonal relationship and family life. Indeed, their negative emotions disturb their focus on the treatment of their ASD child. Thus, the management of ASD child incapacitates their parents to bring out the best. Therefore, there is a need for intervention of ASD with emphasis on negative emotions of these parents and affecting the parental efficacy. However, it must also be kept in mind that the improvement in the diagnosed ASD child, especially as the time and expense spent on intervention can be even more detrimental to the parents, especially with their emotional component of their personality. This proposed a new model of intervention incorporating assessment and management of parental emotionality as a part of the intervention. Further aiming at integrating this model into the current regulated system of intervention and can be a source for directing the alternative platform for further research in this regard. © 2016, Global Research Online. All rights reserved.}, note = {cited By 0}, keywords = {Autism, Children, Disease Severity, Emotion, Emotionality, Evidence-based Practice, Human, Human Relation, Intervention Study, Negative Emotionality, Parent Counseling, Parental Attitude, Parenting Education, Personality Assessment, Review, Social Status, Stress}, pubstate = {published}, tppubtype = {article} } Raising a child with an autism spectrum disorder (ASD) is a challenging for their parents. Child’s life with this disease is severely affected. 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 distressing; they have a critical 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, this in turn distress them deliberately and further restrict them in the ways of child rearing and to give the best of themselves. These parents are found with negative emotionality in their personality component. They end up being shattered in their interpersonal relationship and family life. Indeed, their negative emotions disturb their focus on the treatment of their ASD child. Thus, the management of ASD child incapacitates their parents to bring out the best. Therefore, there is a need for intervention of ASD with emphasis on negative emotions of these parents and affecting the parental efficacy. However, it must also be kept in mind that the improvement in the diagnosed ASD child, especially as the time and expense spent on intervention can be even more detrimental to the parents, especially with their emotional component of their personality. This proposed a new model of intervention incorporating assessment and management of parental emotionality as a part of the intervention. Further aiming at integrating this model into the current regulated system of intervention and can be a source for directing the alternative platform for further research in this regard. © 2016, Global Research Online. All rights reserved. |
2015 |
Alwi, N; Harun, D; Leonard, J H Clinical application of sensory integration therapy for children with autism Journal Article Egyptian Journal of Medical Human Genetics, 16 (4), pp. 393-394, 2015, ISSN: 11108630, (cited By 1). Links | BibTeX | Tags: Autism, Disease Severity, Groups by Age, Human, Letter, Motor Performance, Outcome Assessment, Sensorimotor Integration, Therapy, Therapy Effect, Treatment Indication, Treatment Response @article{Alwi2015393, title = {Clinical application of sensory integration therapy for children with autism}, author = {N Alwi and D Harun and J H Leonard}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84940898525&doi=10.1016%2fj.ejmhg.2015.05.009&partnerID=40&md5=5548f0db22520a480f09da9aaf4c872e}, doi = {10.1016/j.ejmhg.2015.05.009}, issn = {11108630}, year = {2015}, date = {2015-01-01}, journal = {Egyptian Journal of Medical Human Genetics}, volume = {16}, number = {4}, pages = {393-394}, publisher = {Egyptian Society of Human Genetics}, note = {cited By 1}, keywords = {Autism, Disease Severity, Groups by Age, Human, Letter, Motor Performance, Outcome Assessment, Sensorimotor Integration, Therapy, Therapy Effect, Treatment Indication, Treatment Response}, pubstate = {published}, tppubtype = {article} } |
Bhagat, V; Simbak, Bin N; Haque, M Journal of Young Pharmacists, 7 (4), pp. 403-414, 2015, ISSN: 09751483, (cited By 0). Abstract | Links | BibTeX | Tags: Autism, Coping Behaviour, Decision Making, Disease Severity, Economic Aspect, Emotion, Emotionality, Experience, Human, Human Relation, Intervention Study, Parental Attitude, Parental Stress, Priority Journal, Psychological Well Being, Review, Satisfaction, Social Behaviour, Strategic Planning @article{Bhagat2015403, title = {The peripheral focus on the psychological parameters of parents of autistic children in the intervention methods: A review and recommending the strategy, focusing psychological parameters of parents of autistic children in intervention methods}, author = {V Bhagat and N Bin Simbak and M Haque}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84959853109&doi=10.5530%2fjyp.2015.4s.1&partnerID=40&md5=ed5b5faede6650d1249a902d7201ed43}, doi = {10.5530/jyp.2015.4s.1}, issn = {09751483}, year = {2015}, date = {2015-01-01}, journal = {Journal of Young Pharmacists}, volume = {7}, number = {4}, pages = {403-414}, publisher = {EManuscript Services}, abstract = {The experience of parents with an Autism Spectrum Disorders (ASD) can be devastating. Parents and families have to cope with the compound, demanding situation in their life. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parent's in their life situations. Those coping with life complexity with the parents of ASD nudge them into stress later into distress slowly incapacitates them that of their efficiency to deal with this situation. These parents are found with disturbances in their psychological parameters such as social, sexual, economic, and emotional. Perhaps this shatters them from their interpersonal relationship and family life. Indeed, these aspects of parental distress stand lower in position, and the focus goes with the treatment of ASD. Thus, the management of ASD by these parents to their deficit child capacitating to reach their fullest abilities remains questionable. Thus, there is a need for intervention of autistic children with a peripheral focus on psychological parameters of parents of ASD. This review study focuses on division of attention required for the treatment of ASD towards the child with autism and the parents who manage them.}, note = {cited By 0}, keywords = {Autism, Coping Behaviour, Decision Making, Disease Severity, Economic Aspect, Emotion, Emotionality, Experience, Human, Human Relation, Intervention Study, Parental Attitude, Parental Stress, Priority Journal, Psychological Well Being, Review, Satisfaction, Social Behaviour, Strategic Planning}, pubstate = {published}, tppubtype = {article} } The experience of parents with an Autism Spectrum Disorders (ASD) can be devastating. Parents and families have to cope with the compound, demanding situation in their life. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parent's in their life situations. Those coping with life complexity with the parents of ASD nudge them into stress later into distress slowly incapacitates them that of their efficiency to deal with this situation. These parents are found with disturbances in their psychological parameters such as social, sexual, economic, and emotional. Perhaps this shatters them from their interpersonal relationship and family life. Indeed, these aspects of parental distress stand lower in position, and the focus goes with the treatment of ASD. Thus, the management of ASD by these parents to their deficit child capacitating to reach their fullest abilities remains questionable. Thus, there is a need for intervention of autistic children with a peripheral focus on psychological parameters of parents of ASD. This review study focuses on division of attention required for the treatment of ASD towards the child with autism and the parents who manage them. |
2014 |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). Abstract | Links | BibTeX | Tags: Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @article{Chen2014299, title = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, author = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&partnerID=40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, issn = {16618769}, year = {2014}, date = {2014-01-01}, journal = {Molecular Syndromology}, volume = {5}, number = {6}, pages = {299-303}, publisher = {S. Karger AG}, abstract = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, note = {cited By 4}, keywords = {Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {published}, tppubtype = {article} } Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
2020 |
Factors associated with autism severity among Malaysian children with Autism Spectrum Disorder Journal Article Research in Developmental Disabilities, 100 , 2020, ISSN: 08914222, (cited By 0). |
2019 |
PLoS ONE, 14 (3), 2019, ISSN: 19326203, (cited By 4). |
2016 |
International Journal of Pharmaceutical Sciences Review and Research, 36 (1), pp. 54-62, 2016, ISSN: 0976044X, (cited By 0). |
2015 |
Clinical application of sensory integration therapy for children with autism Journal Article Egyptian Journal of Medical Human Genetics, 16 (4), pp. 393-394, 2015, ISSN: 11108630, (cited By 1). |
Journal of Young Pharmacists, 7 (4), pp. 403-414, 2015, ISSN: 09751483, (cited By 0). |
2014 |
Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). |