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

Taeyeop Lee; Hyeji Lee; Soowhee Kim; Kee Jeong Park; Joon Yong An; Hyo Won Kim

doi:10.1007/s10803-022-05735-4

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

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	2777-2783
Number of pages	7
Journal	Journal of Autism and Developmental Disorders
Volume	54
Issue number	7
DOIs	https://doi.org/10.1007/s10803-022-05735-4
Publication status	Published - 2024 Jul

Bibliographical note

Publisher Copyright:
© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022.

Keywords

Autism spectrum disorder
Clinical improvement
Exome sequencing
Intellectual disability
Neurodevelopmental outcome

ASJC Scopus subject areas

Developmental and Educational Psychology

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10.1007/s10803-022-05735-4

Cite this

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title = "Brief Report: Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities",

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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AU - Kim, Soowhee

AU - Park, Kee Jeong

AU - An, Joon Yong

AU - Kim, Hyo Won

N1 - Publisher Copyright: © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022.

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

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