More than 2000 different syndromic neurodevelopmental disorders are known. These syndromes are individually rare, but collectively common as they occur in 1:300 births. The impact of neurodevelopmental disorders (e.g. intellectual disability) is large. Multidisciplinary research is necessary to improve care for this patient group. This thesis demonstrates that the same DNA aberration can be present in a healthy parent and their child with typical Snijders Blok-Campeau syndrome. Furthermore, Witteveen-Kolk syndrome can now also be diagnosed based on epigenetics (regulation of DNA). For Brunner syndrome we developed recommendations for diagnostics and management, including the advice to avoid certain medications because of the risk for life-threatening complications. Lastly, brain organoids (“mini-brains”) of individuals with KBG syndrome showed aberrant brain development in KBG syndrome. This knowledge will contribute to improve treatment for KBG syndrome in the future.
Crossing the spectrum of neurodevelopmental disorder research: The promise of a multidisciplinary approach
Monday 22 September 2025, 10:30 am- PhD candidate
- J. Coenen-van der Spek
- Promotor(s)
- prof. dr. T. Kleefstra (Erasmus MC), prof. dr. J.I.M. Egger, dr. S.M. Kolk
- Organisation
- Faculty of Medical Sciences (Radboudumc), Donders Institute for Brain, Cognition and Behaviour
- Location
- Aula