Het dopamine systeem en cognitieve achteruitgang bij patiënten met VCFS.
- Conditions
- velocardiofacial syndromedel22q11.2dementiadementievelocardiofaciaal syndroom
- Registration Number
- NL-OMON26307
- Lead Sponsor
- Governor Kremers Centre / Department of Clinical GeneticsMaastricht, the Netherlands
- Brief Summary
/A
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 44
Inclusion Criteria
1. Deletion 22q11.2;
2. IQ < 55.
Exclusion Criteria
IQ > 55.
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Catecholaminergic metabolites (in plasma: (homovanillic acid (HVA), 3-methoxybenzophenone-4 hydroxyphenethyleneglycol (MHPG), vanillylmandelic acid (VMA,) and in urine (HVA, MHPG, VMA, dopamine (free and conjugated) and norepinephrine (free and conjugated)), prolactine and proline in plasma and for COMT and PRODH polymorphism screening.
- Secondary Outcome Measures
Name Time Method 1. Vineland-S;<br /><br>2. Dementiascales DMR: Dutch version: DVZ;<br /> <br>3. Psychiatric symptomatology: Mini PAS-ADD Behavioural scales: ABCL and SGZ.