Genetic Investigation of Motor Stereotypies

Motor stereotypies are repetitive, rhythmic, bilateral movements with a typical onset in early childhood. Although stereotypies most often appear in children with autism spectrum disorder or intellectual disability (secondary... [ view full abstract ]

Motor stereotypies are repetitive, rhythmic, bilateral movements with a typical onset in early childhood. Although stereotypies most often appear in children with autism spectrum disorder or intellectual disability (secondary stereotypies), they can present in typically-developing children (primary stereotypies) and persist into adulthood. In many cases, these stereotypies are self-injurious, socially offensive or disruptive to the desired activity, so their treatment is crucial for satisfactory development. A genetic predisposition has been hypothesized based on high heritability and a Mendelian inheritance pattern in approximately 25% of families, yet there have been no published genetic studies of this phenotype. This research project searches for genetic variation in primary complex motor stereotypies, as they are likely to represent an etiologically more homogeneous form of the phenotype (compared to secondary stereotypies) that can be leveraged to understand the underlying genetics and pathophysiology of all types of stereotypies and affiliated disorders.