The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.
ID
Source
Brief title
Condition
- Neurological disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
- Genetic variation (Single Nucleotide Polymorphisms, SNPs).
- Metabolite concentration in urine and plasma.
- IQ as measured by an IQ test.
Secondary outcome
Attention and social skills, abnormal child behaviour scores, daily functioning
will be measured using questionnaires.
Background summary
Mental retardation (MR) is a complex phenotype defined by the DSM-IV as an IQ<
70 with deficits in two or more adaptive skills starting in a childhood age.
Borderline intelligence is defined as an IQ of 70-85. (American psychiatric
association, DSM-IV 1994) Children with borderline intelligence may have
deficits in adaptive skills as well. The causes of MR and/or borderline
intelligence are very heterogeneous, including environmental causes and genetic
causes. Although a large number of genetic and non-genetic causes for MR have
been identified, the cause of (especially mild non-specific) MR remains unknown
in 50-70% of the cases. We hypothesise that mild non-specific MR and borderline
intelligence is to a large extent caused by multiple genetic and environmental
factors together.
Study objective
The main aim of this project is to identify genetic and metabolic risk factors
for mild MR and borderline intelligence.
Study design
We will develop a database containing genotypic and phenotypic data of 1000
children with mild non-specific mental retardation or borderline intelligence
and their parents for etiologic research. We plan to do a genetic association
study (a transmission disequilibrium test) using a gene network approach to
find groups of functionally related genes that are associated with mild MR and
borderline intelligence. For the metabolic risk factors we will use a
Case-control design, comparing metabolite concentrations of patients with a
reference population.
Study burden and risks
The burden for participants in this study is minimal. These children are all
referred to the clinical genetic department for diagnostic purposes. The
standard diagnostic protocol includes physical examination, DNA and metabolic
analysis. No extra blood samples of the children or physical test are needed
for this study, but we however do intent to take an IQ-test in all children and
the parents are asked to fill out 3 questionnaires, to perform an IQ-test and
to donate 15-20 ml of blood and a urine sample. The child and the parents will
need to pay one extra visit in most instances. The child and his/her parents
might benefit from a recent IQ-test and the questionnaire on psychological
functioning of the child as these gives insight in the abilities and
developmental needs of the child. The understanding of the risk factors for MR
and borderline intelligence is important for designing optimal, customized
learning programs for (cognitively impaired) children and possibly to minimize
exposure to relevant environmental factors or to develop medical treatment of
MR.
Postbus 7057
1007 MB Amsterdam
NL
Postbus 7057
1007 MB Amsterdam
NL
Listed location countries
Age
Inclusion criteria
1. borderline intellectual functioning (IQ 70-85) or mild mental retardation (IQ 50-70)
2. age 4-18 years
3. parents are available (at least one) and capable of communication in the Dutch language
Exclusion criteria
1. major congenital malformation
2. suspicion of a syndrome based on physical examination and/or history, judged by a clinical geneticist
3. a known cause for the mild a-specific MR or borderline intellectual functioning
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 | NL31526.029.10 |