Objective: The primary objective of this pilot project is to investigate the early course of motor development in children with DS. Secondary objectives are to investigate the relation between type of SCN1A mutation and developmental profile and to…
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Seizures (incl subtypes)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Main study parameters/endpoints: Primary assessment tool is the Infant Motor
Profile (IMP), a qualitative method to assess motor development in infancy.
Secondary outcome
Secondary parameters are the scores on the Bayley Scales of Infant and Toddler
Development, third edition (Bayley-III-NL) and the genetic data on the specific
SCN1A mutation type.
Background summary
Rationale: Dravet syndrome (DS) is a severe, disabling epileptic encephalopathy
with core symptoms intractable epilepsy, profound developmental delay and
behavioural difficulties. In at least 80% of the cases DS is caused by a
mutation in the SCN1A gene. A substantial number of children with an SCN1A
mutation, however, do not develop DS, but a less severe phenotype such as
genetic epilepsy with febrile seizures plus (GEFS+) or only febrile seizures
(FS). As the phenotypic diagnosis of DS relies on the presence of developmental
delay and this takes time to become apparent, there may be a long diagnostic
gap which causes severe burden and uncertainty for parents. To allow adequate
parents* counselling it is therefore crucial to find early prognostic
biomarkers for developing DS. Also, early diagnosis is crucial in the light of
the newly emerging gene-specific therapy approaches such as antisense
oligonucleotide modulation. Little is known about early motor development in DS
syndrome and whether qualitative assessment of motor behaviour can serve as an
early biomarker for DS.
Study objective
Objective: The primary objective of this pilot project is to investigate the
early course of motor development in children with DS. Secondary objectives are
to investigate the relation between type of SCN1A mutation and developmental
profile and to assess which domains of motor development are affected.
Study design
Study design: Prospective longitudinal study with repeated longitudinal
assessments, inclusion of infants between ages 6 months and 2 years, follow-up
for one year with assessments every 3 months.
Study burden and risks
Nature and extent of the burden and risks associated with participation,
benefit and group relatedness: The study is not associated with risks for the
child or the parents. If the child is tired, crying or hungry, the assessment
will be stopped. Costs of the study are an investment of time. As the
assessments are for the large part performed by means of home visits there is
no burden of travel time and effort for the parents and the child involved.
Hanzeplein 1
Groningen 9713GZ
NL
Hanzeplein 1
Groningen 9713GZ
NL
Listed location countries
Age
Inclusion criteria
- Age 2 years of less at time of inclusion
- Presented with seizures in the first two years of life and have an (likely)
pathogenic SCN1A gene variant
- Caregivers have sufficient understanding of the Dutch or English language to
give informed consent
Exclusion criteria
- Caregivers having insufficient understanding of the Dutch or English language
- Diagnosis of cerebral palsy (CP) or other neuromotor condition affecting
motor development in addition to the SCN1A mutation
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 | NL81376.042.22 |
| Other | UMCG research register: 202200315 |