Validation of a Clinical Screening Grid for Syndromic Schizophrenia
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Sponsor
- Enrollment
- 129
- Locations
- 1
- Primary Endpoint
- Presence or absence of each criteria from the grid.
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Diagnostic
- Masking
- None
Eligibility Criteria
- Ages
- 15 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Arms & Interventions
Array comparative genomic hybridization
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) or a pathogenic sequence variation (exome trio sequencing).
Intervention: Array comparative genomic hybridization (Genetic)
Outcomes
Primary Outcomes
Presence or absence of each criteria from the grid.
Time Frame: During the inclusion visit (45 minutes)
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
Secondary Outcomes
- Presence or absence of a pathogenic CNV detected on the CGH-a(4 months from samples to results)
- Whole exome sequencing(6 months)