Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Developmental disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Cognitive and psychiatric profile in adults with triple X syndrome.
Secondary outcome
Neuroanatomical profile in adults with triple X syndrome.
Background summary
Triple X syndrome is a genetic syndrome occurring once in every 1000 females
and is characterized by the presence of an extra X chromosome. It is diagnosed
through prenatal or postnatal karyotyping. Girls with this syndrome develop
without major developmental disabilities, although they suffer from mild
delayed development especially in expressive language and they have problems in
forming stable interpersonal relationships. Adults may either suffer from
social communication deficits. The Full Scale Intelligence Quotient (FSIQ) is
15-20 points lower than expected within the family, however usually still
within the normal range. Psychotic illness is more prevalent in triple X adult
women than in controls: the prevalence of triple X is 5 times higher in
patients with psychotic disorders compared to the general population.
Two neuroimaging studies in adults with triple X syndrome revealed lower total
brain volume compared to controls.
Studies on cognitive and psychiatric functioning of adults with triple X
syndrome are lacking.
Study objective
Description of cognitive, psychiatric and neuroanatomical profile in adult
women with triple X syndrome compared with a group of healthy controls on
average of the same age and of the same IQ. IQ is considered as a potential
confounder and treated as such in data-analysis.
Study design
The study design concerns a cross-sectional study.
Study burden and risks
Questionnaires (one hour), Wechsler-adult-intelligence-scale- III-Netherlands
(WAIS-III-NL) test of intelligence (one hour), a CANTAB session (one hour),
which is a computerised, predominantly non-linguistic test of
neuropsychological functioning, and a systematic psychiatric examination (one
hour) through MINI-International Neuropsychiatric Interview (MINI). MRI brain
session (one hour).
Vijverdalseweg 1
Maastricht 6226 NB
NL
Vijverdalseweg 1
Maastricht 6226 NB
NL
Listed location countries
Age
Inclusion criteria
In order to be eligible to participate in this study, a subject must meet all of the following criteria:
- Cases have a 47,XXX karyotype or a mosaic 46,XX/47,XXX with at least 85% cells with an extra X chromosome, healthy controls have a 46,XX karyotype.
- Age above 18 years.
- Being capable and competent of giving informed consent.
- Sufficient language skills in Dutch.
Exclusion criteria
A potential subject (cases and healthy controls) who meets any of the following criteria will be excluded from participation in this study:
- Pregnancy for the potential risk during MRI procedures.
- Being under legal guardianship.
- Contra indications for undergoing an MRI study (having brain aneurysm clips, certain types of artificial heart valves, heart defibrillator or pacemaker, inner ear (cochlear) implants, artificial joints, vascular stents or when worked with sheet metal in the past.
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 | NL46871.068.14 |