Facial dysmorphologies associated with CNV expression in psychiatric illness

Conditions: mental retardation
Syndromal psychiatric disorder
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10057167
10037173

Registration Number: NL-OMON48218

Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 240

Inclusion Criteria

Probands must meet the following criteria:
1. All probands or their representatives must give signed informed consent;
2. Probands have a psychiatric disorder classified according to DSM-IV, DSM-5 or DIGS;
3. Probands are adults, i.e. 18 years of age or older.;Parental controls must meet the following criteria:
1. All parents or their representatives must give signed informed consent.;Healthy controls must meet the following criteria:
1. All healthy controls must give signed informed consent;
2. Healthy controls have no history of psychiatric illness according to DIGS;
3. Healthy controls are adults (i.e. 18 years of age or older), demographically-matched to probands on the basis of age, sex and ethnicity.

Exclusion Criteria

1. Unable to give informed consent to all aspects of the study.
2. Unable to speak and be interviewed in Dutch or English (to ensure validity of the interviews).
3. Psychiatric symptoms are secondary to substance abuse;
4. Facial dysmorphology is not congenital.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Quantification of the relationship between psychiatric pathogenic variants and<br /><br>facial dysmorphic features.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Multivariate relationship between pathogenic variants (dependent variable),<br /><br>mode of inheritance (independent variable), IQ (independent variable), facial<br /><br>dysmorphic features (independent variable) and psychiatric diagnosis<br /><br>(independent variable).</p><br>