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…
ID
Bron
Verkorte titel
Aandoening
Intellectual disability, epilepsy, Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, Dravet Syndrome due to SCN1A mutations
Ondersteuning
Onderzoeksproduct en/of interventie
Uitkomstmaten
Primaire uitkomstmaten
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.
Achtergrond van het onderzoek
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
Doel van het onderzoek
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.
Onderzoeksopzet
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.
Publiek
Wetenschappelijk
Belangrijkste voorwaarden om deel te mogen nemen (Inclusiecriteria)
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
Belangrijkste redenen om niet deel te kunnen nemen (Exclusiecriteria)
Across both studies: No informed consent given by legal representative or the subject (if legally capacitated)
Study 2: An additional genetic diagnosis
Opzet
Deelname
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In overige registers
Register | ID |
---|---|
NTR-new | NL9455 |
Ander register | METC Erasmus MC : MEC-2020-0897 |