The Expertise center ENCORE (Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus MC’) was founded in 2010. Within the Erasmus MC-Sophia Children's Hospital, it bundles expertise in the field of rare congenital disorders in which a cognitive developmental disorder occurs.
First and foremost, ENCORE offers highly specialized care and diagnostics to these patients. However, ENCORE also wants to takes this one step further (the English meaning of 'ENCORE' is'successful sequel'). By combining basic and clinical research, ENCORE tries to gain more insight into the disorders, improve treatment and thus ultimately improve the quality of life for the patient.
ENCORE is led by Dr. Marie-Claire de Wit (Head of ENCORE Clinic) and Prof.dr. Ype Elgersma (Head of ENCORE Research).
Dr. Marie-Claire de Wit & Prof. Dr. Ype Elgersma
ENCORE consists of a very enthusiastic team with broad expertise. The doctors involved in a specific expertise center can be found on the syndrome-specific pages. Below is an overview of the entire ENCORE team:
Research leaders Preclinical research
Dr. Arjan Theil
Dr. Ben Distel
Dr. Dick Jaarsma
Dr. Femke de Vrij
Dr. Geeske van Woerden
Dr. Stefan Barakat
Prof. dr. Steven Kushner
Prof. dr. Wim Vermeulen
Prof. dr. Ype Elgersma
Pediatricians
Drs. Barbara Sibbles
Dr. Danielle Veenma
Dr. Karen Bindels-de Heus
Dr. Rianne Oostenbrink
Dr. Margreth van der Lugt
(Pediatric) neurologists
Dr. Evita Medici – van den Herik
Dr. Marie-Claire de Wit
Drs. Suzanne Koudijs
Dr. Walter Taal
Remedial educationalist
Dr. Maartje ten Hooven-Radstaake
Dr. Nienke Bouw
Speech therapist
Cindy Navis
Physiotherapist
Laurentine Kamminga – van Wessem
Lina van Dongen
Eline Kuijpers
(Child) psychiatrists
Dr. Bram Dierckx
Dr. Gwen Dieleman
Drs. Leontine ten Hoopen
Dr. Michiel Coesmans
Dr. Pieter de Nijs
Psychologists
Dr. André Rietman
Dr. Sabine Mous
Clinical Geneticists
Dr. Alice Brooks
Dr. Anneke Kievit
Dr. Mark Nellist
Dr. Rick van Minkelen
Dr. S. Zeidler
M. van Vliet
Dr. Yvette van Ierland
Dr. Stefan Barakat
GDPR doctors
Dr. Anja Kattentidt
Dr. Marlies Valstar
Dr. Lianne Krab
Dr. Rogier Kersseboom
Rehabilitation doctor
Dr. Sandra Titulaer
Internal medicine
Dr. Laura de Graaff, internist-endocrinologist EAA
Janneke Baan, internist-geriatric medicine EAA
Dermatologists
Dr. Marlies Wakkee
Prof. dr. Suzanne Pasmans
Pediatric Dietitian
Drs. Joanne Olieman
Nursing specialists
Martine Broekema
Sarah van Dijk
Tanja Nuiten
Brigit Roest-Crollius
Ophthalmologist (eye doctor):
Dr. Nicole Naus
Radiologist
Dr. Marjolein Dremmen
Epilepsy nurse
J.E. Rietveld
We want to improve the quality of life of patients diagnosed with a hereditary (congenital) cognitive developmental disorder. We do this by providing highly specialized care. We optimize patient care through systematic patient follow-up. In this way we hope to develop more expertise. In addition, we strive for better coordination between the various involved specialists within Erasmus MC-Sophia Children's Hospital. It is important for both child and parents that all consultations and examinations take place in one day as much as possible. Finally, the center offers the opportunity to participate in scientific research to gain more insight into the condition and thus improve the treatment of the condition and the diagnosis. We focus primarily on children. When the patients are 18 years old, they will transition to experts from adult medicine (transition poli).
- Guaranteeing specialized, multidisciplinary care and knowledge under one roof, centered around patient needs
- To be internationally leading (and visible) in the treatment and follow-up of hereditary neurodevelopmental disorders (healthcare innovation).
- To conduct internationally leading research into neurodevelopment disorders.
- Transfer knowledge to patients and family members and to external practitioners, paramedics and doctors in training
- Promote the interaction between research groups and health care practitioners (national and international) so that breakthroughs in research and treatment can be realized
- Establishing good care for patients after the age st 18
- Provide an accessible platform for the start-up of new specialized multidisciplinary expertise centers, for conditions that fall within the clinical and scientific expertise of ENCORE
Within ENCORE we focus on genetic disorders that cause a disruption of normal (neuro)development and therefore lead to intellectual disability, epilepsy and / or behavioral problems (including autism). The care is combined with basic and translational research into the underlying pathophysiological mechanisms and development of treatments. Since there are hundreds of different genes involved in brain development, we have defined two specific areas of interest:
- Mutations in genes that not only affect brain development but are also associated with an increased risk of tumors (in the brain or elsewhere in the body). In addition to mutations in the RAS-PI3K-MTOR intracellular signaling pathway, this also includes mutations in genes involved in DNA repair. The expertise centers include:
- Brain Overgrowth Syndromes
- Cortical malformations (MCD)
- Cardio-Facio-Cutaneous (CFC) Syndrome and Costello Syndrome (CS)
- DNA repair disorders
- Neurofibromatosis type 1 (NF1)
- Sturge-Weber
- Tuberous Sclerosis Complex (TSC)
- Genes that have a direct effect on signal transmission between brain cells ("synaptic plasticity"). This includes the following conditions:
- Angelman Syndrome (AS)
- CAMK2 Syndrome
- Dup15q Syndrome
- Fragile X Syndrome (FXS)
- SYNGAP1 Syndrome
- Glutamate receptor syndromes (GRIN, GRIA)
- (Ultra) rare genetic disorders that lead to developmental disorders and autism ("Unique clinic")
On this site you can find more information about these conditions and clinics. You can also read what research is being done into these conditions.
ENCORE works closely with researchers / doctors in the Netherlands and worldwide.
ENCORE is a European Reference Center and is affiliated with the European Reference Networks (ERN) ITHACA and GENTURIS.
