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Journal of Autism and Developmental Disorders

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07-09-2022 | Brief Report

Brief Report: Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities

Auteurs: Taeyeop Lee, Hyeji Lee, Soowhee Kim, Kee Jeong Park, Joon-Yong An, Hyo-Won Kim

Gepubliceerd in: Journal of Autism and Developmental Disorders

Abstract

The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72–84 months). Exome sequencing was conducted and putative risk variants were identified. According to the diagnostic improvement, children were categorized into the improvement group (n = 19) and the non-improvement group (n = 172). Compared to the non-improvement group, the improvement group had lower number of risk variants in known DD genes and haploinsufficient genes, and lower number of overall putative risk variants. Our results may serve as a preliminary basis for developing a model that informs clinical outcome by sequencing analysis.

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Titel: Brief Report: Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities
Auteurs: Taeyeop Lee
Hyeji Lee
Soowhee Kim
Kee Jeong Park
Joon-Yong An
Hyo-Won Kim
Publicatiedatum: 07-09-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05735-4

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