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