Rawiwan Roongpraiwan

A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature

Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairments of social interaction, communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. Frequencies of chromosomal abnormalities in cohorts of individuals with ASD varying between 1.2 and 28.6% have been reported. In this study, we evaluated 203 Thai children who met the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), for autistic disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), and who had neither major dysmorphic features nor CGG repeat expansions of the FMR1 gene. A routine G-banding chromosome analysis was performed at a minimum of ISCN 400-550 bands. A chromosomal abnormality was observed in one child (0.5%), a 41-month-old boy with a ring chromosome 13 detected by G-banding analysis and subsequently confirmed by FISH. SNP microarray analysis detected a 2.11-Mb deletion of chromosome 13q34, encompassing 23 genes. The MCF2L and UPF3A genes are among those genes that may explain the autistic features in our case. To the best of our knowledge, only one autistic case with a ring chromosome 13 has been previously reported. In this article, we also systemically reviewed 21 studies that utilized a conventional cytogenetic method to detect chromosomal abnormalities in patients with ASD. When we summed all cases with chromosomal abnormalities, including the case from our study, the frequency of chromosomal abnormalities detected by conventional cytogenetics in patients with ASD was 3.2% (118/3,712).

Comparison of mental health symptoms between children attending developmental/behavioural paediatric clinics and child and adolescent mental health service.

Aim:  Australian paediatricians are being referred many children with severe and complex behavioural presentations. Australian paediatricians are being referred many children with severe and complex behavioural presentations. The aim of this study was to compare patients seen in the developmental/behavioural paediatric clinic (DBP) with those seen in the community child and adolescent mental health service (CAMHS) of a paediatric teaching hospital. We hypothesised that the burden of emotional‐behavioural symptoms of children referred to these two services would be similar.

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02, df = 1, P = 0.31). In addition, we propose one novel ASD candidate gene, SERINC2, which warrants further investigation. Our findings provide supportive evidence that CMA studies using population-specific reference databases in underrepresented populations are useful for identification of novel candidate genes.

Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder.

Molecular Neuropsychiatry and Development Laboratory, Neurogenetics Section, The Campbell Family Brain Research Institute, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani and Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand Correspondence to Pornprot Limprasert, MD, PhD, Division of Human Genetics, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand Tel: + 66 74 451584; fax: + 66 74 212908; e-mail: lpornpro@yahoo.com

Translation and validation of the Children's Communication Checklist to evaluate pragmatic language impairment in Thai children

The Childrens Communication Checklist (CCC) was developed to provide an assessment of domains of language impairment in children, particularly the pragmatic domain. This study examined the effectiveness of the CCC‐Thai version in discriminating children with autism spectrum disorders (ASD) from typically developing children.

No association of Val158Met variant in the COMT gene with autism spectrum disorder in Thai children.

Department of Pathology, Division of Human Genetics, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand and Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, USA Correspondence to Pornprot Limprasert, MD, PhD, Department of Pathology, Division of Human Genetics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand Tel: + 66 74 451584; fax: + 6674212908; e-mail: lpornpro@yahoo.com