Genetics and psychopathology in the 22q11.2 deletion syndrome: A follow up study

Recruiting

• Conditions: Autisme en taalstoornissen; Psychosis; 10039628; 10027664; Schizophrenia

• Registration Number: NL-OMON47713
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 400

Inclusion Criteria

- Confirmed 22q11.2 deletion
- Age range from 13th - 25th year of life (T1)
and for the DNA study in parents:
- biological parents of a youth with a confirmed 22q11.2 deletion

Exclusion Criteria

For the psychiatric and genetic studies there are no exclusion criteria.;Exclusion criteria for the Imaging studies:
- Verbal IQ < 55
- Claustrophobia, no potential to lay still during the investigation
- Metal objects in or around the body that cannot be taken off (surgical clips, braces, pacemakers, piercing or others).
- Possibility for pregnancy

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- schizophrenia development<br /><br>- diagnosis of autistic spectrum disorder and/or language disorder<br /><br>- neurocognitive abilities, including intelligence and the longitudinal course<br /><br>thereof<br /><br>- proline concentration in the blood<br /><br>- DNA polymorphisms and RNA expression profile<br /><br>- Parent of origin<br /><br>- structural and functional characteristics of the brain obtained with MRI<br /><br>scanning</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable</p><br>