the Phenotypic and Genetic Profile of Patients With Early Onset Schizophrenia Associated With Autism Spectrum Disorder.

NCT02565524 | Completed

• 1 other identifier: 14-HPNCL08
• Study Type: interventional
• Target: 111
• Locations: 1 country
• Sites: 1

Brief Summary

Early onset schizophrenia "early dissociative disorder" is a rare disorder with a low incidence of approximately (1/5000 to 1/20000). Its link with autism spectrum disorders remains unknown although both are serious neurodevelopmental diseases. As part of the 2011-2013 Interregional hospital Clinical Research program, University Department of Child and Adolescent Psychiatry Pediatric Hospitals of CHU de Nice Lenval identified patients with a complex phenotype characterized by an early schizophrenia associated with autism spectrum disorders and developmental disabilities in mild to moderate. This phenotype could be a new syndrome. The goal of our project is to define the genetic causes of this phenotype. The technique of high throughput sequencing will be used to obtain the sequence of exomes of these patients and their families. This study will therefore be important to give an accurate diagnosis for patients and their families. Moreover, we believe that this project will identify new genes involved allowing a better understanding of the pathophysiology. Recent studies show the involvement of mutations in several genes (eg NRXN1 and UPF3B) in these different clinical phenotypes. However, the genetic basis of the childhood and early onset schizophrenia are much less well known than those of autism spectrum disorder

Conditions

Schizophrenia; Dissociative Disorders

Keywords

schizophrenia; early dissociative disorder; genetic

Outcome Measures

Primary Outcomes (3)

• characterization of the genetic abnormalities associated to Early Onset Schizophrenia phenotypes by performing standard karyotype

  A standard karyotype at a resolution of 300 to 400 bands per haploid lot. It can diagnose numerical anomalies and certain structural abnormalities such as reciprocal translocations, inversions, deletions. A standard karyotype at a resolution of 300 to 400 bands per haploid lot is established initially. It can diagnose numerical anomalies and certain structural abnormalities such as reciprocal translocations, inversions, deletions Big. The pathological nature of these mutations will be stutied on the gene function and reaches its pattern of expression.

  inclusion visit

• characterization of the genetic abnormalities associated to Early Onset Schizophrenia phenotypes by performing search CGG

  A search of the CGG expansion hypermethylated in the 5 'UTR of the FMR1 gene mutation that causes Fragile X syndrome.

  inclusion visit

• characterization of the genetic abnormalities associated to Early Onset Schizophrenia phenotypes by performing whole exome sequencing

  Whole Exome Sequencing on trio (mother, father and child); This technology has demonstrated its power in recent years to determine the genetic causes of many rare diseases (Ropers, HH., 2012).

  inclusion visit

Secondary Outcomes (6)

• Intensity of positive symptoms of schizophrenia

  inclusion visit

• Co-morbid psychiatric diagnosis

  inclusion visit

• Evaluation of executive and attentional by the verbal fluency test

  inclusion visit

• Clinical evaluation of autistic symptoms

  inclusion visit

• Neurocognitive profile

  inclusion visit

Study Arms (1)

genetic and phenotypic profile

EXPERIMENTAL

blood sample, clinical and neurocognitive assessment

Other: genetic and phenotypic profile

Interventions

genetic and phenotypic profile OTHER

Genetic and phenotypic profile, clinical and neurocognitive assessment for child with Schizophrenia and autism, their parents and brotherhood

genetic and phenotypic profile

Eligibility Criteria

• Age: 7 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Of the child:
• ≥ 7 years, \<18 (below 7 years the diagnosis of schizophrenia is not possible)
• Schizophrenia Diagnosis done using the diagnostic tool Kiddie sads
• Autism Diagnosis done using the diagnostic scale Autism Diagnostic interview (ADI-R)
• Intelligence quotient (IQ) ≥ 50 at Wechsler Intelligence Scale for Children (WISC) IV abridged version
• Clinical examination
• Affiliation to social security
• Obtaining the authorization of the holders of parental authority
• Brothers and sisters:
• Minor or Major
• Similarly biological parents
• Clinical examination
• Affiliation to social security
• Obtaining the authorization of the holders of parental authority for minors or informed consent for major
• Parents:

You may not qualify if:

• Of the child:
• Children refusing to participate
• Children without verbal language
• Brothers and sisters:
• Children refusing to participate
• Adults protected by law
• Parents:
• Refusing to participate
• Adults are protected by law

Sponsors & Collaborators

• Fondation Lenval: lead

Study Sites (1)

Fondation Lenval

Nice, 06200, France

Location

Related Publications (1)

• Fernandez A, Dor E, Maurin T, Laure G, Menard ML, Drozd M, Poinso F, Bardoni B, Askenazy F, Thummler S. Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss). BMJ Open. 2018 Jul 5;8(7):e023330. doi: 10.1136/bmjopen-2018-023330.

  PMID: 29980548 DERIVED

MeSH Terms

Conditions

Schizophrenia; Dissociative Disorders

Condition Hierarchy (Ancestors)

Schizophrenia Spectrum and Other Psychotic Disorders; Mental Disorders

Study Officials

• Emmanuelle DOR, MD

  Fondation Lenval

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 29, 2015
• First Posted: October 1, 2015
• Study Start: May 18, 2014
• Primary Completion: May 30, 2023
• Study Completion: May 30, 2023
• Last Updated: September 29, 2023

Record last verified: 2023-09

Locations

FR (1)