Glutamate, GABA and cognition in subjects with 22q11.2 CNVs

Conditions: 22q11.2 copy number variants

Registration Number: NL-OMON24163

Lead Sponsor: azM

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 80

Inclusion Criteria

For subjects with 22q11.2 CNVs
•Confirmed diagnosis of 22q11.2 deletion or duplication syndrome established by FISH, microarray or MLPA analysis.
•16 year or older of age and mentally competent (determined by an experienced physician) to give informed consent.
•No presence of a physical/medical condition that may interfere with the study.
•No contraindication for MRI.

For healthy controls:
•Healthy subjects will be matched for age and gender.
•No presence of a physical/medical condition that may interfere with the study.
•No contraindication for MRI.

Exclusion Criteria

For subjects with 22q11.2 CNVs:
•Other chromosomal abnormalities.
•Current substance abuse / dependence.
•A psychiatric or neurologic disorder.
•Pregnancy.

For Healthy controls:
•Any chromosomal abnormalities.
•Current substance abuse / dependence.
•A psychiatric or neurologic disorder.
•Pregnancy.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Primary outcomes will be metabolite concentrations including glutamate and GABA assessed using 1H- MRS in the anterior cingulate cortex as well as performance on the neuropsychological tests battery: The CNB, a Computerized Neurocognitive test Battery . <br>

Secondary Outcome Measures

Name	Time	Method
euromelanine, which is a secondary outcome of the study, will be assessed in the substantia nigra and locus coeruleus using an optimized neuromelanine imaging sequence