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ID
Source
Brief title
Health condition
Intellectual disability, epilepsy, Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, Dravet Syndrome due to SCN1A mutations
Sponsors and support
Intervention
Outcome measures
Primary outcome
Study 1 will have two main outcomes:
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.
2) The relationship between changes in adaptive functioning and serum levels of neurofilament light chains.
Study 2 will have one main outcome:
1) The relationship between changes in adaptive functioning and serum levels of neurofilament light chains in the different genetic syndromes.
Secondary outcome
Secondary study parameters include:
The neuropsychological outcome measures:
- Measure of cognitive problems such as memory and intelligence;
- Severity of affective symptoms (including depressive and anxiety symptoms); and other behavioral symptoms
Background summary
Cognitive decline is a major clinical concern in adults with ID and epilepsy. It is thought to occur in the context of a ‘chronic
accumulation model’ in chronic and refractory epilepsies; the effects of seizures, medication and ageing on an already vulnerable
brain. However, epidemiology, phenomenology and determinants of cognitive decline are unknown as this vulnerable population is
under-researched. In the earlier study TRIANGLE (MEC 2016-408) cognitive and adaptive functioning in a group of patients with
epilepsy and intellectual disability was studied. By repeating the same measures we can compare the outcomes over time and
study the cognitive trajectory in people with intellectual disability. Furthermore, a group of participants with differing genetic
syndromes are studied for the first time. As patients with these syndromes have various degrees of epilepsy and intellectual
disability, we can study the relationship between these factors and cognitive and adaptive functioning. By adding a blood analysis,
we can study whether a possible decline in adaptive or cognitive functioning is associated with signs of neurodegeneration.
Additionally, use of serum biomarkers could eventually lead to a less burdensome way of evaluating dementia symptoms, in
comparison with lumbar puncture and MRI-scans
Study objective
To investigate the trajectories of cognitive and adaptive functioning in adults with epilepsy and ID. In doing so we are looking for clinical determinants of cognitive and adaptive decline. Furthermore, the association between decline and serum biomarkers for dementia is explored.
Study design
Study 1 is a follow-up 5 years after the TRIANGLE study
Study 2 is a cross-sectional study and thus will have only 1 time point.
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
Design
Recruitment
IPD sharing statement
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL9455 |
| Other | METC Erasmus MC : MEC-2020-0897 |