Motor phenotypes associated with genetic neurodevelopmental disorders.

ABSTRACT:

Objective

There is a growing number of monogenic disorders implicated in neurodevelopmental disorders (NDDs), including autism spectrum disorder and intellectual disability. Motor impairment is frequently seen in these disorders, although not clearly defined. We aimed to characterize the motor phenotype of genetic NDDs.

Methods

We analyzed data from Simons Searchlight, collecting information on patients with genetic NDDs. Data analyzed included Vineland Adaptive Behavior Scales Second Edition (Vineland-II) motor standard scores, motor milestones and tone abnormalities.

Results

In total, 959 patients with 57 genetic disorders were included. Disorders associated with Vineland-II motor standard score <56 included GRIN2B-related disorder (mean standard score = 53.5), HNRN

SUBMITTER: Santana Almansa A 

PROVIDER: S-EPMC11651173 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature