Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

ABSTRACT:

Purpose

Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS.

Method

Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also admin

SUBMITTER: Verbesselt J 

PROVIDER: S-EPMC11567083 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature