The neurodevelopmental spectrum of CASK-related disorder.

ABSTRACT:

Background

Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Although the number of diagnosed cases is rising, current understanding of the CASK-related neurodevelopmental spectrum is limited. Here, we systematically review the published characteristics of individuals with CASK-related disorder, and compare these to a more recently-diagnosed group. We provide quantitative information about the ranges of adaptive abilities, motor function, visual function and social-emotional-behavioural characteristics, and explore within-group associations.

Methods

One hundred and fifty-one individuals with CASK variants were identified in

SUBMITTER: Martin J 

PROVIDER: S-EPMC12492526 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature