| Abstrakt: |
A recent study conducted by Yale University has found that motor stereotypies, repetitive and purposeless movements, are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation. The study used whole-exome DNA sequencing to identify genetic variants associated with motor stereotypies, and found an increased rate of de novo damaging DNA coding variants in children with primary complex motor stereotypies (pCMS) compared to controls. The study identified KDM5B as a high-confidence risk gene and estimated that 184 genes may confer risk for pCMS. The findings suggest a potential genetic basis for motor stereotypies and highlight the need for further research to better understand the biological mechanisms underlying these behaviors. [Extracted from the article] |
