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
Journal	Journal of Autism and Developmental Disorders
DOIs	https://doi.org/10.1007/s10803-022-05735-4
Publication status	Accepted/In press - 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

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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.",

keywords = "Autism spectrum disorder, Clinical improvement, Exome sequencing, Intellectual disability, Neurodevelopmental outcome",

author = "Taeyeop Lee and Hyeji Lee and Soowhee Kim and Park, {Kee Jeong} and An, {Joon Yong} and Kim, {Hyo Won}",

note = "Funding Information: This work was supported by the National Research Foundation of Korea (NRF) Grant funded by the Ministry of Science and ICT (2018R1A2B6002216 to HWK; NRF-2020R1C1C1003426 and NRF-2020M3C7A1017855 to JYA), and the Korea University Grant (to JYA). Publisher Copyright: {\textcopyright} 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2022",

doi = "10.1007/s10803-022-05735-4",

language = "English",

journal = "Journal of Autism and Developmental Disorders",

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T2 - Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities

AU - Lee, Taeyeop

AU - Lee, Hyeji

AU - Kim, Soowhee

AU - Park, Kee Jeong

AU - An, Joon Yong

AU - Kim, Hyo Won

N1 - Funding Information: This work was supported by the National Research Foundation of Korea (NRF) Grant funded by the Ministry of Science and ICT (2018R1A2B6002216 to HWK; NRF-2020R1C1C1003426 and NRF-2020M3C7A1017855 to JYA), and the Korea University Grant (to JYA). Publisher Copyright: © 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - Autism spectrum disorder

KW - Clinical improvement

KW - Exome sequencing

KW - Intellectual disability

KW - Neurodevelopmental outcome

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DO - 10.1007/s10803-022-05735-4

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C2 - 36071318

AN - SCOPUS:85137489127

SN - 0162-3257

JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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