Official Title
Validation of a Clinical Screening Grid for Syndromic Schizophrenia
Brief Title
Validation of a Clinical Screening Grid for Syndromic Schizophrenia
Protocol ID
NCT02746510
Lead Sponsor
Hôpital le Vinatier
Brief Summary
Background:
Nowadays, despite a large number of studies about schizophrenia and genetics, clinical
red flags for syndromic forms of schizophrenia remain poorly documented.
Detailed Description
Methods: This study aims to validate a short clinical screening grid for syndromic forms
of schizophrenia linked to a pathogenic Copy Variation Number (CNV). The investigators
plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and
more. The clinical grid will be prospectively fulfilled for every patients on the basis
of his/her medical history and clinical examination. Array comparative genomic
hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely
syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number
Variation (CNV).
In subjects with no CNV that may explain the onset of schizophrenia, the investigators
would like to complete the investigations with exome trio sequencing. With this type of
very clinical approach, the investigators wish to determine which semiological elements
should alert the psychiatrists as to the presence of a syndromic form. The objective is
to propose at the end of this study a simple and reliable scale, usable in psychiatry
consultation, to guide the genetic screening of forms of syndromic schizophrenia.
Enrollment Count
129 participants
Eligibility Criteria
Inclusion Criteria:
- Patient aged 15 years and more with a schizophrenia defined by the DSM V criterion
- Informed consent signed by the patient or he/she's legal representant
Exclusion Criteria:
- Pregnancy
- Current psychotic decompensation
- Patient with a known genetic syndrome
Filters
Schizophrenia
NA
TERMINATED
CHILD
ADULT
OLDER_ADULT