The Genetics of Intellectual Impairment and Autism Spectrum Disorders
a website for Patients, their Families and Professionals
From passive patient to expert patient
We are in contact with Florent Colin, Genida Project Manager, Professor Mandel, Professor Emeritus at the University of Strasbourg and Doctor Collot who carried out a study on antiepileptics in KDVS.
All three work for Génida and have participated in the creation of an international and participative database on the Internet for genetic forms of intellectual disability and / or autism including KDVS.
This is a structured MCQ type questionnaire currently available in 5 languages, including French. The questions explore physical parameters (height, weight), cognitive aspects (language, reading, writing, non-verbal communication), behavioral aspects, the presence or absence of clinical neurological manifestations (epilepsy, motor disorders), physiological disorders (cardiac, renal, gastrointestinal, sensory, food ...).
More open questions address parents' perception of manifestations that most affect the health of the affected individual, their quality of life, and adverse reactions to treatments.
All of this data is then analyzed by professionals and the results are then returned to the participants. This allows everyone to situate themselves within these results.
Thanks to this study, GENIDA therefore hopes that the passive patient will become an expert patient.
We, parents of KDVF, are delighted that professionals (all the more French) are so interested in our children and their development.
We are convinced that this work of data recovery and analysis will be able to help us on a daily basis and also participate in the knowledge and recognition of Koolen de Vries syndrome.
We also encourage parents of affected children to register and complete this study for the benefit of everyone.
Then, register on https://genida.unistra.fr/ if:
And if you are already registered, don't forget to update your data once a year.
Study on antiepileptic treatments taken by our Kool kids
Doctor Collot, doctor expert in adverse drug effects, collects information on the treatments taken by our children with epilepsy and the side effects they could produce in the context of Genida.
Parents who answered question N ° 3 of the GENIDA questionnaire “Did your loved one suffer from a major medical problem or discomfort following a particular medication?” and indicating that their child / loved one had experienced discomfort (an adverse effect) following treatment with Keppra (also known as Levetiracetam) and / or with Sodium Valpraote (also known as name of Valproic Acid - Depakine / chrono - Depakote or Micropakine) were contacted by the Genida team in the spring of 2018 in order to have additional information on the side effects encountered.
The aim was to find out whether the adverse reaction suggested a different sensitivity taking into account the genetic condition of the child / loved one.
To date, the GENIDA results do not allow either to modify the known safety profile of these drugs, nor to highlight a particular profile in patients with Koolen De Vries syndrome. For the expected side effects, it is therefore advisable to refer to the patient information leaflet.
However, GENIDA continues to collect data, also:
"If your child has any side effects, talk to your doctor, pharmacist or nurse. This also applies to any side effect not listed in the package leaflet. You can also report the effects undesirable directly via the national reporting system: National Agency for the Safety of Medicines and Health Products (ANSM) and network of Regional Pharmacovigilance Centers - Website: www.ansm.sante.fr
By reporting side effects, you can help provide more information on the safety of this medicine. "
You can also contact the KDVF association by email for more questions or information, "contact" tab on this site.