Marianne van den Bree
Researchers at Cardiff University are working to understand a relatively common genetic condition that most people haven't heard of. The ECHO study, based at the Division of Psychological Medicine and Clinical Neurosciences, aims to identify the challenges faced by people with 22q11. Deletion Syndrome (22q11.2DS), which is thought to be the second most common genetic condition behind Down's Syndrome. Estimates for how many people are affected by the condition have ranged between one in 4,000 and one in 2,000 live births but the actual figure of the number of people affected is expected to be higher than current estimations as not all individuals may be diagnosed. There are a wide range of health issues associated with the syndrome, such as heart conditions and immune problems, palatal defects and speech delays. It can also cause developmental problems and learning disabilities. Children with 22q11.2DS may have a higher chance of experiencing mental health problems such as autism, ADHD and anxiety disorder.
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