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 journalArticlepeer-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 languageEnglish
JournalJournal of Autism and Developmental Disorders
DOIs
Publication statusAccepted/In press - 2022

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

Keywords

  • Autism spectrum disorder
  • Clinical improvement
  • Exome sequencing
  • Intellectual disability
  • Neurodevelopmental outcome

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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