velocardiofacial syndrome del22q11.2 dementia dementie velocardiofaciaal syndroom
Conditions
Interventions
None listed
Sponsors
Governor Kremers Centre /
Department of Clinical Genetics
Maastricht, the Netherlands
Eligibility
Inclusion criteria
Inclusion criteria: 1. Deletion 22q11.2; 2. IQ < 55.
Exclusion criteria
Exclusion criteria: IQ > 55.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 1. Vineland-S; 2. Dementiascales DMR: Dutch version: DVZ; 3. Psychiatric symptomatology: Mini PAS-ADD Behavioural scales: ABCL and SGZ. | — |
Contacts
Public ContactL.J.M. Evers
Outcome results
None listed