There is an urgent need for personalized care for individuals with genetic neurodevelopmental disorders and intellectual disability (ID), such as Tuberous Sclerosis Complex, Fragile X Syndrome and Down Syndrome. My projects and collaborations focus on novel research avenues including treatment targets over life, and personalized trial designs and outcome measures.

To learn more on the natural course of genetic neurodevelopmental disorders, we are studying neuropsychiatric trajectories such as cognitive functioning over life, identifying associations with genetic background, clinical and psychosocial variables, and serum biomarkers for neurodegeneration. This information will help identify relevant treatment targets and inform (preventative) care.

To improve care, we are evaluating novel and existing treatments, such as cannabidiol, methylphenidate, nutraceuticals, ECT and EMDR. As randomized controlled trials are often not feasible in these small, heterogeneous and vulnerable patient populations, we are designing robust methodologies such as N-of-1 designs for interventions in small cohorts or even individual patients.

Simultaneously, we want to make sure we can measure effects, so patients don’t miss out on these urgently needed treatments. We are developing and validating patient-centered outcome measures (PCOMs) and Goal Attainment Scaling, which can be used as outcome measures for clinical trials as well as for monitoring of care needs and quality of life. 

As 2% of the population is affected by ID, this presents a huge societal burden. Bridging the current care and knowledge gap between academia and ID care is crucial. This can be facilitated as a board member of the Emma Center for Personalized Medicine and soon an academic working place at 's Heeren Loo, the largest organization for individuals with ID. My advisorships for various patient organizations, and my international collaborations will ensure to incorporate relevant research questions. Having developed and now chairing guideline infrastructures for patients with ID and genetic disorders in the Netherlands and European Reference Network ITHACA, this optimizes impact on care on a national and international level. Together, we will improve lifelong, personalized care for this vulnerable patient population.

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Intellectual Disability Physician / Arts voor Verstandelijk Gehandicapten