At the Radboudumc in Nijmegen we are constantly collecting data from people with Kleefstra syndrome, in order to learn more about this rare disorder. Since there are many people around the world that we can learn from, we have put together a survey.

This psychopharmacology survey is part of the ‘TacKle’ study whose main objective is to gather information on the natural history, medical complications, behavioral disorders and responses to pharmacological treatments for patients with Kleefstra syndrome. Our aim is to improve the understanding and management of KS via this survey.

Who is this survey intended for?

For parents/caregivers of a family member with Kleefstra Syndrome (due to a genetic anomaly affecting the EHMT1 gene, or small chromosomal segment (9q34.3) who are willing to are willing to anonymously provide medical and non- medical information on their relative. This survey is not intended for patients with Kleefstra Syndrome 2.

How long does it take to complete the survey?

It will take between 10 and 30 minutes (depending on your relatives’ situation). Tip: gather the medical information on your child before starting the survey, that way you can fill in the survey much faster and easier.

How can I participate?

If you click on the link to take the survey, you will be directed to a web page with a unique URL. If you do not succeed in completing the survey in one go, you can always save the unique URL under your favourites, so that you can complete the questionnaire at a later date.

Take the survey now >>

If you have any questions regarding the survey, you can contact us via: kleefstrasyndromesurvey.gen@radboudumc.nl

Kind regards,

Joost Kummeling, on behalf of Professor Tjitske Kleefstra and Dr. Karlijn Vermeulen.