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Dopaminergic neurotransmission and cognitive deterioration in velocardiofacial syndrome

Dopaminergic neurotransmission and cognitive deterioration in velocardiofacial syndrome - Dementia in VCFS

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
NL-OMON
Registry ID
NL-OMON33641
Enrollment
44
Registered
2009-09-14
Start date
2009-12-18
Completion date
Unknown
Last updated
2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

deletion 22q11.2 DiGeorge syndrome

Interventions

None listed

Sponsors

Medisch Universitair Ziekenhuis Maastricht
Lead Sponsor

Eligibility

Age
18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Deletion 22q11.2 Group 1: premorbid IQ > 70 . At this moment IQ

Exclusion criteria

Exclusion criteria: Pregnancy Age 65 Somatic problems which mimic dementia, such as hypothroid. Psychiatric disorders with dementia like symptoms, such as depressive disorder and dementia's of other origine

Design outcomes

Primary

MeasureTime frame
Blood and urine samples will be collected to determine dopaminergic markers. Also we will obtain blood samples to determine erythrocyte COMT activity, proline levels in serum and COMT and PRODH polymorphisms. Behavioural and psychiatric parameters will be obtained through several questionnaires.

Secondary

MeasureTime frame
Medication status wil be added.

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)