Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome is a genetic syndrome associated with congenital heart disorders, intellectual disability and psychiatric problems. Emma von Scheibler, medical doctor, started her PhD research in 2019 to study medical conditions in adults with 22q11.2 deletion syndrome. The 14th of November at 10:00 A.M., she will publicly defend her thesis. Previous research in individuals with 22q11.2 deletion syndrome mainly focused on children. This has resulted in limited knowledge regarding medical conditions at adult age. The research of Von Scheibler shows that Parkinson’s disease and hearing loss are more often present and started at a younger age compared to adults from the general population. This may suggest early aging in adults with 22q11.2 deletion syndrome. In addition, adults with 22q11.2 deletion syndrome more often had post-traumatic stress disorder. On the contrary, severe ocular disorders were rarely found. Although most adults benefit from wearing corrective glasses. Health care professionals who work with adults with 22q11.2 deletion syndrome have an important task in timely recognizing movement problems consistent with Parkinson’s disease, difficulties with hearing or vision, and trauma-related problems. To help these health care professionals Von Scheibler provided recommendations for screening. “For the best treatment results, timely recognition is often important. These recommendations may help to achieve this”, she says. The results and recommendations have already partly been implemented in the recently updated international clinical guidelines for adults with 22q11.2 deletion syndrome. In addition, they have been implemented directly by researchers and health care professionals who work at the expert center genetic syndromes of ’s Heeren Loo and at Maastricht University.