3/31/2024 0 Comments Autism spectrum disorder ASD dsm 5It was estimated that about 1.7% (1 in 59 children) in the United States are diagnosed with ASD. There was no additional external funding received for this study.Ĭompeting interests: The authors have declared that no competing interests exist.Īutism spectrum disorder (ASD) is one of the most prevalent disorders in children. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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.ĭata Availability: All relevant data are within the paper and its Supporting Information files.įunding: All authors except Arijit Mukhopadhyay were supported by grant ISC 17.03, funded by Vinmec International General Hospital. Received: AugAccepted: DecemPublished: March 7, 2024Ĭopyright: © 2024 Bui et al. PLoS ONE 19(3):Įditor: Nejat Mahdieh, Shaheed Rajaei Hospital: Rajaie Cardiovascular Medical and Research Center, ISLAMIC REPUBLIC OF IRAN (2024) De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam. ![]() This is the first report of candidate CNVs in ASD patients from Vietnam and provides the framework for building a CNV based test as the first tier screening for clinical management.Ĭitation: Bui HTP, Huy Do D, Ly HTT, Tran KT, Le HTT, Nguyen KT, et al. Notably, 3 of our patients had a deletion involving the SHANK3 gene–which is the highest compared to previous reports. Using the filter for known CNVs from the Simons Foundation Autism Research Initiative (SFARI) database, we identified six CNVs (one gain and five loss CNVs) in six patients (3 males and 3 females). We detected 1708 non-redundant CNVs in 100 patients and 118 (7%) of them were de novo. We performed genetic screening to exclude RETT syndrome and Fragile X syndrome and performed genome-wide DNA microarray (aCGH) on all probands and their parents to analyse for de novo CNVs. We recruited one hundred trios (both parents and a child) where the child was clinically diagnosed with ASD while the parents were not affected. We report here that the diagnostic success of de novo candidate CNVs in Vietnamese ASD patients is around 6%. Data on the efficacy of diagnostic tests using copy number variations (CNVs) in candidate genes in ASD is currently around 10% but it is overrepresented by patients of Caucasian background. Autism spectrum disorder (ASD) is a developmental disorder with a prevalence of around 1% children worldwide and characterized by patient behaviour (communication, social interaction, and personal development).
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |