Only individuals and families who carry these genetic variants can effectively help improve our understanding of these mutations.
Participants will meet with our team of researchers, medical doctors, and psychologists, who are world experts in these mutations.
Who can participate?
To participate, you must be a carrier of one of these genetic rearrangements below or be related to a carrier and be older than 3 years.
It is not necessary to take part in all aspects of the study to participate (many assessments are optional).
If you accept to participate in this study, the consent form will be reviewed with you. You will notice that there are multiple parts in this study and that it is not mandatory to take part in each to participate (each step is optional). Evaluations would not be done on the same day so different appointments might be needed.
A neuropsychological assessment will evaluate language, memory, attention and executive functions and other skills. This could take between 60 minutes and 2 hours depending on the age and difficulties of the participant.
This evaluation is done through different questionnaires evaluating mood, anxiety, attention and hyperactivity symptoms.
For participants older than 6 years. The MRI will help characterize the brain regions that are influenced by these genetic mutations.
From a unique blood draw, it is possible to obtain DNA, RNA and cell lines which will be used in different analysis.
The mentioned examinations are free of charges. Travel expenses will be reimbursed (document available here).
Traveling to the study site
For participants living far from the study sites, we can organize your trip.
Many structural genetic mutations (also called copy number variants, CNVs) are associated with developmental and psychiatric symptoms. However, how these mutations affect brain development, cognition, and behavior remains unknown. For example, some people have many symptoms and difficulties while other have few or none. Those are the questions our research group is focused on.
Feel free to contact us for more information on the studies.