Agnies M. van Eeghen



Research activity per year

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Personal profile

Research interests

There is an urgent need for treatments for children and adults with rare genetic neurodevelopmental disorders, such as Tuberous Sclerosis Complex, Fragile X Syndrome and Down Syndrome. The arrival of intellectual disability (ID) physician specialization, NFU recognized expert centers, European Reference Networks and increasingly empowered patient organizations, create optimal conditions for lifelong personalized medicine for this patient population. 

My collaborations help me identify and engage in urgently needed, novel research avenues. Together, we address knowledge gaps on the natural course of rare disorders, treatment targets, and relevant treatments and outcome measures.

Little is known on the natural course of rare neurodevelopmental disorders, especially manifestations in adolescents and adults. More insights can help improve (preventative) care and identify treatment targets. My projects focus on neuropsychiatric trajectories including cognitive functioning and dementia, identifying associations with genetic background, clinical variables, and serum biomarkers for neurodegeneration. 

As our knowledge on manifestations increases, this provides treatment targets, which include drug as well as psychological treatments. As randomized controlled trials are often not feasible in these small, heterogeneous and vulnerable patient populations, we are designing robust methodologies for interventions in small cohorts or individual patients. To evaluate such interventions it is also necessary to identify appropriate and relevant outcome measures for these patients. This need is addressed by projects developing and validating patient-reported outcome measures (PROMs) and Goal Attainment Scaling for children and adults with rare neurodevelopmental disorders. These can be used as outcome measures for clinical trials and monitoring of care needs and quality of life. 

I am also affiliated with 's Heeren Loo, the largest care organization for patients with ID, and active in various scientific boards of patient organizations, which will ensure the patient needs into my research focus. This, and chairing the ERN ITHACA guideline working group and the Dutch guideline committee for ID physicians, will help the implementation of new insights into care, nationally and worldwide. Together, we will improve health and quality of life for this vulnerable patient group.



Intellectual Disability Physician / Arts voor Verstandelijk Gehandicapten

Education/Academic qualification

PhD, Erasmus MC

Award Date: 17 Dec 2013

External positions

ID Physician, 's Heeren Loo

1 Mar 2018 → …

ID physician, Erasmus MC

1 Jun 2015 → …


  • RZ Other systems of medicine
  • intellectual disability medicine
  • rare genetic neurodevelopmental disorders
  • RM Therapeutics. Pharmacology
  • rare genetic disorders
  • neuropsychiatry
  • trial methodology


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