Dr. Koolen’s Clinical Survey

Koolen-de Vries Syndrome is a rare condition with published estimates of 1 in 55,000. There are probably many individuals worldwide who are undiagnosed. Each year, a larger number of people are diagnosed with Koolen-de Vries Syndrome as the genetic tests become more accessible and more commonplace.

There is still a lot to learn about Koolen-de Vries Syndrome! In fact, the full spectrum of the syndrome is still unknown. Dr. Koolen continues to gather data on individuals with KdVS. Parents and caregivers of children/adults with KDVS are kindly asked to share information to help Dr. Koolen continue to research, refine and define Koolen-de Vries Syndrome. Ultimately, as this data is analyzed, a better understanding of the syndrome and associated health issues and treatments can be developed.

Dr. Koolen has developed a clinical survey which will allow data to be collected in a systematic manner to allow proper scientific analysis. Questions on the survey focus mostly on the health and development of the individual with KdVS.

Please click here to find the survey.

If you need assistance, Dr. Koolen’s contact information is provided on his website or you can contact Koolen-de Vries Syndrome Foundation for help.

Completed Surveys/Research

Epilepsey in Koolen-de Vries Syndrome

The results of this epilepsy study are now published online in the journal Epilepsia. Epilepsia is the top-ranked epilepsy journal in the world. Please share the following citation with your neurologist so that they are alerted to the most recently published data regarding epilepsy and Koolen-de Vries Syndrome. Article published here.



Myers et al (2017). The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Epilepsia.


As of January 2016, the KDVS epilepsy study has closed for new participants. We will update you with any publications or findings when this information becomes available.

Hello KDVS families! I’m a pediatric neurologist working with a group from the University of Melbourne (Australia) that studies the genetics of epilepsy. I’m very excited to be joining the families coming to Asheville, NC in July for the KDVS Gathering. While there, I will be working on a project conceived of by Dr. Koolen and Dr. Scheffer (the head pediatric neurologist in Melbourne).

As many of you probably know, roughly half of individuals with KDVS have epilepsy. Our goal is to better describe the epilepsy in these individuals (e.g. when do seizures start, what types of seizures occur, what medications work/don’t work, etc.). By doing this we will get a better understanding of KDVS and hopefully this will lead to improved management of seizures in people with this disorder.

I will be arriving in Asheville July 8 at 4 pm and leaving early morning July 12, staying at the Clarion. During the gathering, I would like to meet with as many individuals who have had seizures (and their families) as possible. The meetings should take approximately an hour and will involve consent to release of medical information, questions (primarily related to seizures), and a brief neurologic examination. It would be very helpful if any families of individuals with epilepsy (particularly those arriving on the 8th) were to contact me ( to schedule a meeting time in advance; however I will be generally available throughout the gathering. If you have any questions about the project, please also e-mail me.

Looking forward to meeting everyone!

Dr. Ken Myers, MD PhD
Pediatric Neurologist
Melbourne Brain Centre
University of Melbourne
Melbourne, Australia

Dr. Morgan’s Speech and Language Research

Dr. Angela Morgan with the Hearing, Language and Literacy Group at Murdoch Childrens Research Insitute in Melbourne, Australia is studying speech and language difficulties in children, adolescents and adults with Koolen-de Vries Syndrome. This study will require participation from a qualified speech therapist. For further information about the study or to participate in the study, please click here to visit the website for information. Exciting!!!

Speech Survey – For Parents

Patty Tiberg has shared a study being performed by her son’s speech therapist. This questionnaire can be filled in by the parent of the KDVS individual. This questionnaire can be downloaded here: KDVS Speech Survey. Completed questionnaires should be returned to Patty Tiberg either through a private message on Facebook or by emailing her at