Background: Nowadays, despite a large number of studies about schizophrenia and genetics, clinical red flags for syndromic forms of schizophrenia remain poorly documented.
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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
129
For each of the 150 patients deoxyribose nucleic acid (DNA) exactracted from a jugal mucosae sample will be analysed by the cytogeneticist and a CGH-a will be performed.
CH Le Vinatier
Bron, Auvergne-Rhône-Alpes, France
Presence or absence of each criteria from the grid.
The following criteria are evaluated: Intelectual disability Precocity of the disease (before 15 years) Treatment resistance Confusion Familial history of schizophrenia Visual hallucination Psychomotor regression Pyramidal syndrome Ataxia Dystonia Areflexia Epilepsia Autism spectrum disorder Dysmorphic features ENT or visceral malformation Growth delay
Time frame: During the inclusion visit (45 minutes)
Presence or absence of a pathogenic CNV detected on the CGH-a
For each of the 150 patients deoxyribose nucleic acid (DNA) exactracted from a jugal mucosae sample will be analysed by the cytogeneticist and a CGH-a will be performed. The results will be transmited to the principal investigator. The latter will transmit the results to the patients. If necessary a genetic counselling will be provided by a geneticist.
Time frame: 4 months from samples to results
Whole exome sequencing
Searching for mosaic genetic variations that may have occurred secondarily to conception in 30 subjects with ARRAY CGH who do not find any chromosomal imbalance that could explain the symptoms
Time frame: 6 months
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