DiGeorge syndrome Velo-Cardio facial syndrome (VCFS)
Conditions
Interventions
On two occasions, non-invasive 7.0 Tesla MRS recordings will be conducted, once
following a glutamate challenge (riluzole, 50 mg.) and once following placebo,
administered orally.
Sponsors
Universiteit Maastricht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study parameter will be hippocampal, striatal and ACC glutamate concentrations as measured with [1]H MRS after a glutamate challenge and after placebo. | — |
Secondary
| Measure | Time frame |
|---|---|
| A secondary outcome measure is cognitive functioning, measured with a standardized cognitive battery (CANTAB). A cognitive composite score will be computed using the mean scores of the CANTAB subtests. This score will represent cognitive functioning and will be correlated with glutamate concentrations in the ACC and striatum. | — |
Countries
Netherlands
Outcome results
None listed