MedPath

Dopaminergic neurotransmission and cognitive deterioration in velocardiofacial syndrome

Completed
Conditions
deletion 22q11.2
DiGeorge syndrome
10083624
Registration Number
NL-OMON33641
Lead Sponsor
Medisch Universitair Ziekenhuis Maastricht
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Completed
Sex
Not specified
Target Recruitment
44
Inclusion Criteria

Deletion 22q11.2
Group 1: premorbid IQ > 70 . At this moment IQ < 55
Group 2: premorbid IQ < 55

Exclusion Criteria

Pregnancy
Age < 18 and > 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

Study & Design

Study Type
Observational invasive
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
<p>Blood and urine samples will be collected to determine dopaminergic markers.<br /><br>Also we will obtain blood samples to determine erythrocyte COMT activity,<br /><br>proline levels in serum and COMT and PRODH polymorphisms. Behavioural and<br /><br>psychiatric parameters will be obtained through several questionnaires. </p><br>
Secondary Outcome Measures
NameTimeMethod
<p>Medication status wil be added.</p><br>
© Copyright 2025. All Rights Reserved by MedPath