Autism Spectrum Disorder
Conditions
Brief summary
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).
Interventions
BIOLOGICALblood test
Performing exome sequencing in addition to the standard clinical workup, using DNA extracted from a blood sample collected as part of the patient's standard clinical workup * Interpretation of genetic variations identified in the exome that affect genes on the pre-established list; potential use of parental samples for segregation analysis to aid in the interpretation of the patient's variations * Preparation of a research report following any necessary clinical-biological comparison
Sponsors
University Hospital, Rouen
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Proportion of unrelated index cases | through study completion, an average of 4 years | at least one definite or probable risk factor or causal variant of a monogenic form of autism |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORGAEL NICOLAS
ROUEN HOSPITAL
Outcome results
None listed