ITMO public health
Last update : 06/26/2014 | Version : 1 | ID : 5169
| General | |
| Identification | |
| Detailed name | Autism-psl |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CPP: 26/10/2012, CPP/74-12 - ID RCB : 2012-A00936-37 - autorisation ansm : B121009-40 |
| General Aspects | |
| Medical area |
Psychology and psychiatry |
| Health determinants |
Genetic |
| Others (details) | Autism |
| Keywords | Autism genetics |
| Scientific investigator(s) (Contact) | |
| Name of the director | Héron |
| Surname | Delphine |
| Address | UF de Génétique Clinique, Bâtiment Pinel, 47 boulevard de l’Hôpital, 75651 Paris cedex 13 |
| Phone | + 33 (0)1 42 16 13 48 |
| delphine.heron@psl.aphp.fr | |
| Organization | APHP |
| Name of the director | Depienne |
| Surname | Christel |
| Address | CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225 |
| Phone | + 33 (0)1 57 27 46 69 |
| christel.depienne@upmc.fr | |
| Unit | CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225 |
| Organization | Inserm |
| Collaborations | |
| Funding | |
| Funding status |
Public |
| Details | Fondation de France |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | INSERM - 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) |
Longitudinal study (except cohorts) |
| 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 |
| Database objective | |
| Main objective | To form a cohort of clinically well evaluated patients with autistic disorders. To identify genetic factors involved in autism spectrum disorders. To establish genotype-phenotype correlations. |
| Inclusion criteria | Signed consent form. Covered by social security scheme. Autism spectrum disorders |
| Population type | |
| Age |
Infant (28 days to 2 years) Early childhood (2 to 5 years) Childhood (6 to 13 years) Adolescence (13 to 18 years) Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) |
| Population covered |
Sick population |
| Gender |
Male Woman |
| Geography area |
Local |
| French regions covered by the database |
Île-de-France |
| Detail of the geography area | Pité-Salpêtrière |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2009 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 200 |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Biological data (detail) | Fragile X karyotype |
| Presence of a biobank |
Yes |
| Contents of biobank |
DNA |
| Details of biobank content | DNA |
| Health parameters studied |
Health event/morbidity |
| Procedures | |
| Data collection method | Interview with patient or their parents during genetic counselling Clinical examination |
| Participant monitoring |
Yes |
| Details on monitoring of participants | Genetic counselling |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/23092983 |
| Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/23632794 |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | C. Nava, B. Keren, C. Mignot A. Rastetter, S. Chantot-Bastaraud, A. Faudet, C. Amiet, C. Laurent, A. Jacquette, S. Whalen, A. Afenjar, D. Périsse, D. Doummar, N. Dorison, M. Leboyer, J.P. Siffroi, D. Cohen, A. Brice, D. Héron, C. Depienne. Prospective diagnostic analysis using SNP microarrays in patients with autism spectrum disorders. Submitted to EJHG. C. Nava, F. Lamari, D. Héron, C. Mignot, A. Rastetter, B. Keren, D. Cohen, A. Faudet, D. Bouteiller, M. Gilleron, A. Jacquette, S. Whalen, A. Afenjar, D. Périsse, C. Laurent, C. Dupuits, C. Gautier, M. Gérard, G. Huguet, S. Caillet, B. Leheup, M. Leboyer, C. Gillberg, R. Delorme, T. Bourgeron, A. Brice, C. Depienne. Analysis of the chromosome X exome in patients with Autism Spectrum Disorders identified novel candidate genes including TMLHE. Translational Psychiatry (going to press). |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
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