22q11.2 Deletion Syndrome (22q)

22q is a disorder caused by a small missing piece of the 22nd chromosome. The deletion occurs near the middle of the chromosome at a location designated q11.2. It is considered a mid-line condition, with physical symptoms including characteristic palate abnormalities, heart defects, immune dysfunction, and esophageal / GI issues, as well as debilitating neuropsychiatric and behavioral challenges.

Anxiety is among the most common neuropsychiatric symptoms of 22q; researchers have found that for children with 22q, anxiety is linked to poorer adaptive behaviors, such as self-care, and communication skills that affect daily life. Children with 22q also experience withdrawn behavior, ADHD, cognitive impairment, and autism spectrum disorders that affect communication and social interaction. Later in life, they are at an increased risk of developing mental illnesses such as schizophrenia.

It is estimated that 22q occurs in approximately 1 in 4,000 live births, suggesting that there are approximately 83,000 people living with 22q in the U.S. and 129,000 in the European Union and the UK. It is believed to be underdiagnosed.

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