- Autism-psl

Head :
Héron Delphine
Depienne Christel, CRICM - UPMC/Inserm UMR_S975/CNRS UMR7225

Last update : 06/26/2014 | Version : 1 | ID : 5169

print
Print
xml
XML

Export to XML

Please choose the format :

pdf
PDF
xml
CSV (Excel)

Export to CSV

What sections do you want to export ?

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
Select all | Invert selection | No selection

Which version do you want to export ?

send
Send
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
Email 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
Email 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

Partners - FAQ - Contact - Site map - Legal notices - Administration - Updated on December 15 2020 - Version 4.10.05