AUTISME - Study of genetic factors implied into autism and related disorders

Head :
Leboyer Marion, U 955 - Équipe 15 - Pôle de psychiatrie adultes - GH Mondor Chenevier <br/>Inserm
Bourgeron Thomas, INSTITUT PASTEUR UNITÉ DE GÉNÉTIQUE HUMAINE ET FONCTIONS COGNITIVES 24-28 RUE DU DR ROUX - 75015 PARIS INSTITUT PASTEUR

Last update : 10/29/2013 | Version : 1 | ID : 60112

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Métadonnées
Identification
General Aspects
Scientific investigator(s) (Contact)
Collaborations
Funding
Governance of the database
Additional contact
Type of database
Database objective
Population type
Dates
Size of the database
Data
Procedures
Promotion
Access
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General
Identification
Detailed name Study of genetic factors implied into autism and related disorders
Sign or acronym AUTISME
CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation DR-2013-303
General Aspects
Medical area Neurology
Psychology and psychiatry
Health determinants Genetic
Others (details) Autism
Scientific investigator(s) (Contact)
Name of the director Leboyer
Surname Marion
Address 94000 CRÉTEIL
Phone +33 (0)1 49 81 38 22
Email marion.leboyer@inserm.fr
Unit U 955 - Équipe 15 - Pôle de psychiatrie adultes - GH Mondor Chenevier <br/>Inserm
Name of the director Bourgeron
Surname Thomas
Address 75015 PARIS
Email thomasb@pasteur.fr
Unit INSTITUT PASTEUR
UNITÉ DE GÉNÉTIQUE HUMAINE ET FONCTIONS COGNITIVES
24-28 RUE DU DR ROUX - 75015 PARIS INSTITUT PASTEUR
Collaborations
Participation in projects, networks and consortia Yes
Funding
Funding status Mixed
Details 10 % INSERM, AP-HP FONDATION ORANGE, FONDATION FONDAMENTAL
Governance of the database
Sponsor(s) or organisation(s) responsible Institut National de la Santé et de la Recherche Médicale
Organisation status Public
Additional contact
Main features
Type of database
Type of database Study databases
Study databases (details) Case control study
Database recruitment is carried out by an intermediary A selection of health institutions and services
Database recruitment is carried out as part of an interventional study No
Additional information regarding sample selection. Prospective.
Other organizations actives in the constitution of the cohort: European collaboration Paris, CIC Mondor for adult controls.
End of inclusions : 01/01/2019
Database objective
Main objective Identify genetic factors implied into autism and related disorders.
Secondary objectives:
- Carry on the recruitment of patients and related ;
- Identify and take an inventory of secondary autism spectrum disorder forms to genetic diseases ;
- Study clinical, cognitive and biomedical phenotypes of patients and relatives ;
- Carry on the study of genes implied in autism ;
- Study genotype/phenotype correlations.
Inclusion criteria Of patients or subjects called proposers :

- patient with autism, filling DSM-IV (American Psychiatric Association, 1994) diagnostic criteria, and ADI-R (Autism Diagnostic interview-revised, Lord et Coll., 1994) for autism
Or
Patient with Asperger syndrome, filling DM-IV criteria, as well as ASDI (Asperger Syndrome Diagnostic Interview, Gillberg et Coll., 2001) for Asperger syndrome
Or
Patient with TSA-NS filling DSM-IV diagnostic criteria;
- At least 2 years old, with no further age limit ;
- Somatic condition compatible with a blood sample;
- Social security scheme membership
- Informed consent signature.

Of first degree relatives (parents, brothers and sisters):

- Informed consent signature
- Somatic and intellectual condition compatible with a blood sample
- Social security scheme membership

Of adult controls:

- Aged between 18 and 50;
- Being Caucasian;
- Absence of psychiatric pathology, verified with DIGS (Diagnostic Interview for Genetic Studies, Nurnberger et coll., 1994) for adults;
- Somatic and intellectual condition compatible with a blood sample
- Informed consent signature
- Social security scheme membership

Of child controls:

- At least 2 years old, with no further age limit;
- Being Caucasian;
- Beneficiary of social security scheme;
- Absence of psychiatric pathology verified with Kiddie-sads (kiddie schedule for affective disorders and schizophrenia for school-age children, Orvaschel et Coll., 1982);
- Parents or legal guardians informed consent signature
Population type
Age Childhood (6 to 13 years)
Adolescence (13 to 18 years)
Population covered Sick population
Gender Woman
Geography area National
Detail of the geography area 8 centers in France (+international collaborations)
Data collection
Dates
Date of first collection (YYYY or MM/YYYY) 01/1995
Size of the database
Size of the database (number of individuals) [1000-10 000[ individuals
Details of the number of individuals 1800
Data
Database activity Data collection completed
Type of data collected Clinical data
Declarative data
Paraclinical data
Biological data
Clinical data (detail) Direct physical measures
Medical registration
Details of collected clinical data Clinical examination at inclusion and every year during the follow-up: - Medical and psychiatric history (personal, family) - Biological examinations - Diagnostic evaluation
Declarative data (detail) Paper self-questionnaire
Face to face interview
Details of collected declarative data Clinical examination at inclusion and every year during the follow-up: - Medical and psychiatric history (personal, family) - Biological examinations - Diagnostic evaluation
Paraclinical data (detail) Photos of hands, face and feet
Biological data (detail) Saliva and blood for neurotransmitter level and genetic analysis
Presence of a biobank Yes
Contents of biobank Blood cells isolated
DNA
Details of biobank content DNA bank, cell cultures
Health parameters studied Health event/morbidity
Health event/mortality
Procedures
Data collection method Self-questionnaire: manually filled paper questionnaire Interviews: manually filled paper questionnaire Clinical examination: handwritten Biological exams: handwritten
Quality procedure(s) used Coherence request during after computer data entry; Missing data management; Doctors remainders for follow-up visits; Patients receive written information about the use of their data.
Participant monitoring Yes
Details on monitoring of participants 3 years
Links to administrative sources No
Promotion and access
Promotion
Access
Terms of data access (charter for data provision, format of data, availability delay) Possible data utilization by academic teams. Access condition : international USA collaboration (Autism Genome Project) leading to publications. Data exploitation not available for industry sectors.
Access to aggregated data Access on specific project only
Access to individual data Access on specific project only

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