The role of glutamate in cognition in adults with chromosome 22q11 deletion syndrome

Completed

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

Registration Number: NL-OMON47173

Lead Sponsor: niversiteit Maastricht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 40

Inclusion Criteria

For participants with 22q11DS:
• Confirmed diagnosis of 22q11DS established by FISH, microarray or MLPA analysis.
• Age 18 and older and mentally competent to give informed consent.
• No psychopharmacological treatment at the time of inclusion .
• 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, gender and ethnicity.
• No use of any psychopharmacological treatment at the time of inclusion.
• No presence of a physical/medical condition that may interfere with the study.
• No contraindication for MRI

Exclusion Criteria

For participants with 22q11DS:
• Other chromosomal abnormalities
• Current substance abuse / dependence
• Comorbid psychiatric / neurologic disorder
• Contraindications for Riluzole;For healthy controls:
• Any chromosomal abnormalities
• Current substance abuse / dependence
• A psychiatric or neurologic disorder
• Contraindications for riluzole

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameter will be hippocampal, striatal and ACC glutamate<br /><br>concentrations as measured with [1]H MRS after a glutamate challenge and after<br /><br>placebo.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>A secondary outcome measure is cognitive functioning, measured with a<br /><br>standardized cognitive battery (CANTAB). A cognitive composite score will be<br /><br>computed using the mean scores of the CANTAB subtests. This score will<br /><br>represent cognitive functioning and will be correlated with glutamate<br /><br>concentrations in the ACC and striatum. </p><br>