RecruitingNCT04727489

Study of the Genetic Factors Involved in Autism and Related Disorders

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Enrollment

3,800 participants

Start Date

Mar 30, 2021

Study Type

OBSERVATIONAL

Conditions

Autism Spectrum Disorder

Summary

The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations.

Eligibility

Min Age: 24 MonthsMax Age: 70 Years

Inclusion Criteria16

Probands with Autism Spectrum Disorder
Meet the diagnostic criteria for ASD of the DSM-5 \[American Psychiatric Association, 2013\] based on a consensus between the clinical expertise of expert clinicians, the scores of the Autism Diagnostic Interview-Revised (ADI-R) (Rutter et al, 2003) and those of the Autism Diagnosis Observation Schedule (ADOS-2) (Lord et al, 2012)
Be at least 24 months (no upper age limit)
Somatic and Intellectual state compatible with a blood test
Affiliation to the social insurance
Signature of informed consent by the applicant or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
Controls without ASD
At least 24 months old
Somatic and Intellectual state compatible with a blood test
Affiliation to the social insurance
Signature of informed consent by the subject or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
Relatives of the probands with ASD or of controls without ASD
At least 24 months old
Somatic and Intellectual state compatible with a blood test
Affiliation to the social insurance
Signature of informed consent by the subject or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship

Exclusion Criteria6

Probands with Autism Spectrum Disorder
Severe Intelectual Deficiency (IQ,35 or developmental age <18 months)
●. Personal psychiatric history (schizophrenia, bipolar disorder, substance use disorder (except tobacco), recurrent depression disorder, severe instable anxiety disorder)
Personal neurologic history (epilepsy, or severe neurological disease)
Relatives of the probands with ASD, of the controls or the controls:
● Medical condition (psychiatric or somatic) not compatible with the inclusion

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Interventions

GENETICDNA from subjects will be stored in the biobank of our study.

Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.