Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders (REDIA)

University Hospital, Rouen

Status: Completed

Conditions: Autism Spectrum Disorder

Study type: Observational

Funder types: Other

Identifiers

NCT04043351

2018/0417/HP

Details and patient eligibility

About

Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).

Enrollment: 300 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patient with ASD who has been previously diagnosed by an expert center according to the DSM5 criteria using standardized instruments (ADOS, ADI-R), referred to genetic consultation by the psychiatrist who performed the clinical diagnosis, according to the recommendations of the HAS, and requesting a genetic analysis for medical purposes in this context.
• Patient over 3 years old
• Patient affiliated to a social security scheme
• For minor patients: Holders of the exercise of parental authority who have read and understood the newsletter and signed the consent form
• For a major patient: Major patient who has read and understood the newsletter and signed the consent form
• Supervised minor / minor patient: Legal representative who has read and understood the newsletter and signed the consent form
• Major patient under guardianship: Major patient assisted by his curator or by the judge having read and understood the newsletter and signed the consent form
• DNA of the patient and parents available

Exclusion criteria

• Patient who has already benefited from exome sequencing
• Person deprived of liberty by an administrative or judicial decision
• Pregnant or lactating woman