Intellectual Disability and Epilepsy in Adults: cognitive trajectories and targets for care and interventions
- Conditions
- Intellectual disability, epilepsy, Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, Dravet Syndrome due to SCN1A mutations
- Registration Number
- NL-OMON26561
- Lead Sponsor
- Erasmus MC
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 285
Inclusion Criteria
Study 1: Having participated in the earlier study TRIANGLE
Study 2: Be over the age of 18 and have a genetically confirmed diagnosis of one of following four syndromes;
Fragile X Syndrome, Tuberous Sclerosis Complex, Angelman Syndrome, SCN1A mutations
Exclusion Criteria
Across both studies: No informed consent given by legal representative or the subject (if legally capacitated)
Study 2: An additional genetic diagnosis
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Study 1 will have two main outcomes:<br>1) The difference in adaptive functioning (as measured with the Vineland Adaptive Behavior Scale-II (VABS-II)) when the outcomes of the TRIANGLE study are compared to the outcomes of the current study.<br>2) The relationship between changes in adaptive functioning and serum levels of neurofilament light chains.<br>Study 2 will have one main outcome:<br>1) The relationship between changes in adaptive functioning and serum levels of neurofilament light chains in the different genetic syndromes.
- Secondary Outcome Measures
Name Time Method Secondary study parameters include:<br>The neuropsychological outcome measures:<br>- Measure of cognitive problems such as memory and intelligence;<br>- Severity of affective symptoms (including depressive and anxiety symptoms); and other behavioral symptoms