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Genetic Study

Study objective:

The underlying cause of motor stereotypies is unknown, although some research has suggested that genetics may play a role. In our study we will use saliva testing to examine the potential inheritance pattern of complex motor stereotypies in families. Our goal is to identify the underlying genetic mechanism in this disorder.

This is a joint effort with Dr. Matthew State of Yale University, whose laboratory has the resources to perform comprehensive genetic analyses.

Participant eligibility:

Participants can be any age. We are currently recruiting children with primary complex motor stereotypies — movements that include flapping or rotating the hands, fluttering fingers in front of the face, flapping — waving arm movements, opening and closing of the hands, and finger wiggling.

Requirements:

Total time commitment: introductory phone screening plus half a day on site at Johns Hopkins in Baltimore, Maryland. Alternatively, following the telephone screening saliva kits can be sent to the home and returned via mail.

  1. Introductory phone screening – Parent or guardian talks with our Study Coordinator to determine whether the child meets the study criteria.
     
  2. Saliva test – Because this is a genetic study, both parents must also participate so we can collect useful data. The child with motor stereotypies, as well as his or her parents and siblings, will either spit in a cup or have a swab of saliva taken from the mouth. Additional saliva samples will also be requested from other family members with similar movements.

More information and enrollment:

Call 410-955-1960 for Tina Kline, Study Coordinator. 

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