The role of glutamate and GABA in cognition in subjects with chromosome 22q11.2 copy number variants

Recruiting

Conditions: DiGeorge syndrome
Velo-Cardio facial syndrome (VCFS)
10083624
10009841

Registration Number: NL-OMON52428

Lead Sponsor: Medisch Universitair Ziekenhuis Maastricht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 80

Inclusion Criteria

For participants with 22q11.2 CNVs:
• Confirmed diagnosis of 22q11.2 CNVs established by FISH, microarray or MLPA
analysis.
• Age 16 and older and mentally competent 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 participants with 22q11.2CNVs:
• Other chromosomal abnormalities
• Current substance abuse / dependence
• Comorbid psychiatric / neurological disorder
• Pregnancy
• For the optional dopamine transporter study, subjects are excluded that
participated in a research project in which they received a radiation burden in
the past year, and when they use medication that occupies the dopamine
transporter.

For healthy controls:
• Any chromosomal abnormalities
• Current substance abuse / dependence
• A psychiatric or neurologic disorder
• Pregnancy
• For the optional dopamine transporter study, subjects are excluded that
participated in a research project in which they received a radiation burden in
the past year, and when they use medication that occupies the dopamine
transporter

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- Glutamate and GABA concentrations in the anterior cingulate cortex as<br /><br>measured with 1H MRS.<br /><br>- Cognitive functioning measured with a standardized cognitive battery (CNB). </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Neuromelanine, which is regarded an indirect measure for dopamine and<br /><br>noradrenaline, will be assessed in the substantia nigra (SN) and locus<br /><br>coeruleus (LC) using a neuromelanine sensitive MRI sequence (NM-MRI) as an<br /><br>additional explorative measure in this study. Neuromelanin measured in the SN<br /><br>and LC with specific neuromelanin MRI has been suggested to be a biomarker for<br /><br>psychotic disorders and Parkinson*s disease (34,35). A secondary outcome<br /><br>measurement of the optional dopamine transporter SPECT study is striatal<br /><br>dopamine transporter binding. </p><br>