This research opportunity is open to ALL individuals diagnosed with Koolen-de Vries Syndrome. Parents and caregivers are encouraged to sign-up with GenIDA and enter medical information regarding their child’s health history. As of November 2018, over 200 families have signed up and started entering data. KdVS Foundation is excited to see the community getting involved. Sharing this data with GenIDA and Drs. Koolen and de Vries is a critical step in further characterizing and understanding Koolen-de Vries Syndrome. Please read the statement from Dr. Koolen below and then sign-up today!
Already signed up for GenIDA? Don’t forget to:
- Log-in and complete the questionnaire
- Set yourself a reminder to update information.
Read more about GenIDA on their website.
Follow GenIDA on Facebook for periodic updates.
From Dr. David Koolen:
“We encourage parents to share clinical information on their child via GenIDA. GenIDA is a family-oriented international online clinical database that collects medically relevant information on individuals with a rare genetic condition. It is a robust system that allows us to perform extensive data analysis. By means of using the digital opportunities of today, a unique chance now comes up to collect a large number of international data on the KdVS. The information is entered and updated via the parents / families and is crucial for the delineation of the clinical spectrum of many rare and previously unrecognized medical conditions. In fact, the parents are the expert and have answers to many questions. It is up to researchers and clinicians to collect, to summarize, and to interpret the data. By doing so we can describe the full spectrum of clinical features including longitudinal data. This might provide tools for tailor-made clinical follow-up, management protocols and, where possible, appropriate therapy. We are confident that such collected data can produce extremely useful information. This important data can only be collected if you cooperate in providing this information. A huge advantage of this registry is the fact that questionnaires are available in different languages (e.g. Dutch, English, French, Portuguese), so the information can reach a broad audience internationally. The confidentiality of the provided data is guaranteed and for KdVS there has been so much information provided that useful information can be generated from the registry already. Please help us to collect and make record of the symptoms and course of KdVS by means of completing the registry.
You can create your account at: https://genida.unistra.fr/.
Dr. David Koolen”
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 (firstname.lastname@example.org) 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
Melbourne Brain Centre
University of Melbourne
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 email@example.com.