Intellectual Disability Physician, PhD
Dr Agnies Van Eeghen
Erasmus Medical Center Rotterdam, The Netherlands; Heeren Loo Care Group, Amsterdam, The Netherlands; Amsterdam University Medical Center, The Netherlands
Agnies van Eeghen, MD, PhD, works as an intellectual disability physician, a novel medical specialty in the Netherlands. She is specialized in the neurobehavioral phenotypes of genetic syndromes such as Tuberous Sclerosis Complex (TSC) and Fragile X Syndrome (FXS).
After obtaining her medical degree, she followed the Intellectual Disability specialization at the Erasmus Medical Center in Rotterdam. Subsequently, she worked as a research fellow at Massachusetts General Hospital in Boston, resulting in a PhD on the neuropsychiatric phenotype of Tuberous Sclerosis Complex. After moving back to the Netherlands, she rejoined the Erasmus Medical Center as coördinator of the adult expertise center of TSC. Additionally, she set up a multidisciplinary TAND clinic near Amsterdam. Next to TSC-related work, she works at the Amsterdam UMC and ID care organization ‘s Heeren Loo, where she provices general care for children and adults with ID; also she takes part in national expertise centers for Fragile X Syndrome and Smith Magenis syndrome.
In addition to clinical work, Agnies is active in research on manifestations and treatment of neuropsychiatric phenotypes in teenagers and adults with genetic neurodevelopmental disorders including TSC, focusing on small trial designs and cognitive ageing. She is part of the guideline steering committee of European Reference Network ITHACA and chairman of the guideline committee of the Dutch association for intellectual disability physicians.