22q and motor difficulties - developing new therapies

22q11.2 Deletion Syndrome is a genetic disorder with estimations of 1 in every 2,000 babies being affected. However, this figure is expected to be higher as many people go through life without a diagnosis.

Researchers at Cardiff University are looking at how physical therapy interventions can improve outcomes for children born with the syndrome. 22q has one of the highest prevalences of developmental delay, second only to Down’s Syndrome.

Prof Marianne van den Bree, who leads the ECHO study team based at the MRC Centre for Neuropsychiatric Genetics and Genomics, joined PhD student Adam Cunningham to discuss developing interventions to support people with 22q to better develop their motor skills.

Marianne said, "This is the very start of the research we are doing and we're only beginning to understand these problems. In addition to increasing awareness, we also hope that we will begin to develop more optimal interventions for these children."

The team have created a video to showcase the research undertaken so far.

Watch the video

The team explain their research

Adam explained, “Coordination and motor difficulties are under recognised in children with 22q and neurodevelopmental disorders. Families often have difficulty accessing help for these problems, so we created this video to raise awareness. We want to continue this research by investigating the best strategies for helping children with coordination difficulties and chromosomal disorders.”