UNIEK

UMCG Centre of Expertise for rare neurodevelopmental disorders. Cohort

UMCG Centre of Expertise for rare neurodevelopmental disorders.

UNIEK is a centre of expertise for rare disorders in the field of developmental delay, with specific expertise of CHARGE syndrome, Phelan-McDermid syndrome and rare chromosome disorders (in particular of chromosome 6).

We develop and update our expertise constantly by active follow-up of as many patients with these rare disorders as possible, and by conducting scientific research and by providing education.

UNIEK aims to:

offer an efficient diagnostic procedure with a minimal burden to the families involved;
gain more knowledge about rare genetic causes for developmental delay;
improve treatment and support for patients and their families based on outcomes of clinical scientific research and by establishing national and international guidelines.

For our clinical studies on CHARGE syndrome we collect information world-wide on growth in order to construct growth curves specifically for the syndrome. For the puberty induction decision tool we perform interviews, both in the Netherlands and at international patient meetings. A new study focussing on early motor development in CHARGE syndrome has recently been started. Children up to 3.5 years of age visiting our CHARGE clinic will be asked to participate.

Our studies on Phelan-McDermid syndrome focus on three aspects. For our longitudinal study on behaviour and development in children we include children up to the age of 18 as long as developmental test results at younger ages are available as well. All individuals with Phelan-McDermid syndrome due to a ring chromosome 22 are welcome to participate in our prospective study on the tumour risk in individuals with a ring chromosome 22. Children who receive an experimental treatment with insulin nose spray via our expert clinic, are enrolled in our evaluation study of this treatment.

Every person with a chromosome 6 aberration world-wide is welcome to participate in our chromosome 6 project. Via a secured website the individual or parent can upload the results of the chromosome studies, after which they receive a personal account. Extensive information, including instruction videos are available at the project's website.
Information on data and biomaterials is available in the UMCG data catalogue, or by contacting our team members. You can also directly visit one of the following pages:
- CHARGE syndrome
- GROEICURVES CHARGE CHILD
- Phelan-McDermid syndrome (soon available in UMCG Research Data Catalogue)
- Database information will be added to the UMCG Data catalogue soon.
- Chromosome 6
- UMCG Department Genetics
- UMCG Department of Paediatrics
- UMCG Department of (Paediatric) Neurology
- UMCG Department of ENT
- UMCG Department of Rehabilitation
- Autism centre Northern Netherlands (ATN)/Jonx
- ERN-ITHACA
‪Conny van Ravenswaaij-Arts‬ - ‪Google Scholar‬
Please visit UMCG Expertisecentrum UNIEK voor Zeldzame Genetische Oorzaken voor Ontwikkelingsachterstand for more information about participation.

Syndrome specific:
CHARGE syndroom - ZeldSamen charge zeldsamen
The CHARGE Syndrome Foundation
Phelan-McDermid-syndroom - ZeldSamen
Phelan-McDermid Syndrome Foundation
Chromosome 6 Project