Intellectual Disability and Epilepsy in Adults: cognitive trajectories and targets for care and interventions
- Conditions
- agingcognition100836241003991110012272
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 invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Study 1 will have two main outcomes:<br /><br>1) The difference in adaptive functioning (as measured with the Vineland<br /><br>Adaptive Behavior Scale-II (VABS-II)) when the outcomes of the TRIANGLE study<br /><br>are compared to the outcomes of the current study.<br /><br>2) The relationship between changes in adaptive functioning and serum levels of<br /><br>neurofilament light chains.<br /><br><br /><br>Study 2 will have one main outcome:<br /><br>1) The relationship between changes in adaptive functioning and serum levels of<br /><br>neurofilament light chains in the different genetic syndromes.</p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary study parameters include:<br /><br>The neuropsychological outcome measures:<br /><br>- Measure of cognitive problems such as memory and intelligence;<br /><br>- Severity of affective symptoms (including depressive and anxiety symptoms);<br /><br>and other behavioral symptoms </p><br>