In this study, we aim to describe cognition and behaviour in patients with DS and analyse correlations between behavioural difficulties and various characteristics including: seizure severity; medication use; level of cognitive functioning; and…
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Developmental disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1) First, we aim to explore changes in behavioural measures (as measured by the
CBCL/ABCL) over time in children with DS.
2) Second, we will study parental empowerment and quality of life (QoL) of
parents caring for a child with DS. We will explore correlations between QoL
and clinical measures.
3) Third, we aim to explore the psychiatric phenotype of SCN1A-related Dravet
syndrome in depth and to explore correlations between behavioural measures and
clinical characteristics including epilepsy severity, medication use, cognitive
development, speech and language problems, sleep difficulties, nutritional
problems, early development, HRQoL and effects of SCN1A gene mutation. We aim
to identify clinical characteristics that are associated with more severe
behavioural disturbances (risk factors) and protective factors, to facilitate
early recognition and intervention. Ultimately, this will support parents in
the management of their child*s health and behaviour.
Main study parameters are the average scores on behavioural and cognitive
measures, including Child and adult behaviour checklist (CBCL/ABCL), Adaptive
Behavior Assessment System (ABAS), Intelligence and Development Scales (IDS),
Autism Diagnostic Observation Schedule (ADOS), and Family empowerment scale
(FES); and main endpoints are correlations between behavioural difficulties and
clinical characteristics such as seizure severity, medication use and level of
cognitive functioning.
Secondary outcome
not applicable
Background summary
Dravet Syndrome(DS) consists of a wide phenotypic spectrum of seizures (e.g.,
febrile seizures, absences, status epilepticus) and is associated with
behavioural difficulties. The prevalence of behavioural difficulties in DS
ranges between 37% and 100% (1-4). However, the nature and extent of
behavioural difficulties, i.e., the *psychiatric phenotype* is unclear. We aim
to identify patient and clinical characteristics associated with more severe
behavioural problems; this may facilitate early recognition and intervention.
Study objective
In this study, we aim to describe cognition and behaviour in patients with DS
and analyse correlations between behavioural difficulties and various
characteristics including: seizure severity; medication use; level of cognitive
functioning; and quality of life (QoL). We aim to explore factors associated
with more behavioural disturbances. Also, we will examine the parental
empowerment and the wellbeing of parents and patients with DS
Study design
This is a prospective observational study with a cross-sectional detailed
psychiatric assessment and a repeated behavioural measure.
Study burden and risks
All questionnaires will be completed online by caregivers. This means that they
can do this in their own time and pace, from their own homes. We will carry out
one psychiatric assessment and aim to do this during one home visit. This
minimizes the burden on the patients and their families and has the added
advantage of minimizing potential assessment related anxiety and stress. There
are no risks associated with this study. As for group relatedness, to study
behavioural aspects of DS, we will need to study patients with DS.
Heidelberglaan 100
Utrecht 3584 CX
NL
Heidelberglaan 100
Utrecht 3584 CX
NL
Listed location countries
Age
Inclusion criteria
• Subjects are diagnosed with Dravet syndrome (genetically confirmed SCN1A
mutation)
• Subjects are living in the Netherlands
• Subjects speak the Dutch language
• Age 2 years and older
Exclusion criteria
• Patients with a variant of unknown significance (class III) in the SCN1A gene
Design
Recruitment
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 |
|---|---|
| CCMO | NL80056.041.22 |