Our primary objective is to compare children with FXS with children with non-syndromic ASD, a developmental delay (DD) and typically developing (TD) children on three domains: ASD severity, cognitive abilities and (neuro)biological characteristics.…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Mental impairment disorders
- Developmental disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
For the three domains, the main study parameters are:
- ASD severity: ASD severity scores from structured behavioral observations.
- cognitive abilities: IQ, measured using an age-appropriate IQ test.
- (neuro)biological characteristics: brain activation patterns measured using
fNIRS.
Secondary outcome
Our secondary parameters will be: Biological measures (i.e. eye-movements and
FMRP levels; see section 8.3 for an extensive description of all assessments
and outcomes).
Background summary
Fragile X syndrome (FXS) is the most common single genetic cause of
intellectual disability (ID) and autism spectrum disorder (ASD). Despite the
high prevalence of ASD, relatively little is known about the exact profile of
these symptoms in FXS, and the role of ID remains unclear. Further, little is
known regarding the common or distinct neural mechanisms underlying ASD
symptomatology in FXS and non-syndromic ASD. Due to the mild to severe ID and
behavioral problems in FXS, studies investigating task-related brain activity
in young children with FXS are lacking. Finally, the relation with other
biological measures, such as expression levels of the fragile x mental
retardation 1 (FMR1) gene protein product (FMRP) remains to be elucidated.
Study objective
Our primary objective is to compare children with FXS with children with
non-syndromic ASD, a developmental delay (DD) and typically developing (TD)
children on three domains: ASD severity, cognitive abilities and
(neuro)biological characteristics.
Furthermore, we aim to study ASD severity and (neuro)biological characteristics
in mothers of children with FXS (permutation carriers), compared to their
children (full mutation carriers) as well as a control group of mothers of
typically developing children, in order to study the effects of carriership.
Study design
Cross-sectional observational study
Study burden and risks
This is a non-therapeutic study. The burden of the study for parents and
children will mainly consist of the time and effort spent participating in the
study visits and filling out questionnaires (parents only). A mobile lab will
be used to visit participants at a location of their choosing to reduce the
burden of participation. There are no known risks in the administration of
neuropsychological tasks, filling out questionnaires, eye-tracking, fNIRS or
hair plucking for FMRP. fNIRS is a non-invasive method for quantifying brain
activity using only a headcap and allowing patients to freely move around. FMRP
levels will be assessed from hair roots, a non-invasive procedure specifically
suitable for young and intellectually disabled populations. With regard to
group relatedness; because we aim to generate knowledge regarding the ASD
profile and its underlying etiology in patients with FXS, no other study groups
can be studied instead. Similarly, since knowledge in children with the
disorder is especially lacking, we will study a pediatric population. To be
able to parse out the effect of ID on the ASD profile, and to study the
specificity of ASD symptoms and severity for FXS, a comparison with
developmentally delayed controls will have to be made.
As an indirect benefit this study could contribute to more focused diagnosis,
improved assessment of treatment efficacy and the development of personalized
treatment for children with FXS or ASD as well as help unravel the etiology of
ASD.
Wytemaweg 80
Rotterdam 3015 CN
NL
Wytemaweg 80
Rotterdam 3015 CN
NL
Listed location countries
Age
Inclusion criteria
Children aged 6-18 years, (corrected to) normal vision, Dutch as first language. Four groups of 55 participants are included.
Two groups of mothers (n<=40 per group) will be included, mothers of children in the FXS and in the TD group.
Group specific in- and exclusion criteria are provided in section 4.2 and 4.3 of the research protocol.
Exclusion criteria
Four groups of participants are included. Group specific in- and exclusion criteria are provided in section 4.2 and 4.3 of the research protocol.
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 | NL62172.078.17 |