{"doc_desc":{"title":"Study of genetic factors implied into autism and related disorders","idno":"FRESH-PEF60112-en","producers":[{"name":"Marion LEBOYER","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60112-en","IDno":{"metadata_no":[{"agency":"PEF","code":"60112"},{"agency":"FReSH","code":"FRESH-PEF60112"}]},"title":"Study of genetic factors implied into autism and related disorders","alternate_title":"AUTISME"},"study_authorization":{"agency":[]},"authoring_entity":[{"type":"investigator","name":"Marion;LEBOYER","PILabo":"U 955 - \u00c9quipe 15 - P\u00f4le de psychiatrie adultes - GH Mondor Chenevier <br\/>Inserm","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ORCID","uri":"0000-0001-5473-3697","role":"pi id"},{"title":"IdRef","uri":"089352475","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"RNSR","uri":"200919261B","role":"labo id"}],"email":"marion.leboyer@inserm.fr","isContact":"Yes"},{"type":"investigator","name":"Thomas;BOURGERON","PILabo":"INSTITUT PASTEUR UNIT\u00c9 DE G\u00c9N\u00c9TIQUE HUMAINE ET FONCTIONS COGNITIVES 24-28 RUE DU DR ROUX - 75015 PARIS INSTITUT PASTEUR","affiliationName":"INSTITUT PASTEUR","extlink":[{"title":"ORCID","uri":"0000-0001-8164-9220","role":"pi id"},{"title":"IdRef","uri":"119761955","role":"pi id"},{"title":"SIREN","uri":"775684897","role":"organisation id"},{"title":"RNSR","uri":"201019083D","role":"labo id"}],"email":"thomas.bourgeron@pasteur.fr","isContact":"Yes"}],"oth_id":[{"name":"","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"},{"title":"SIREN","uri":"180036048","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14"},{"title":"SIREN","uri":"267500452"}]},{"name":"FONDATION D ENTREPRISE ORANGE","extlink":[{"title":"SIREN","uri":"391872363"}]},{"name":"Fondation FondaMental","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00rrhf939"}]},{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261"},{"title":"SIREN","uri":"180036048"}]}]},"distribution_statement":{"contact":[{"name":"Marion;LEBOYER","email":"marion.leboyer@inserm.fr","type":"contact","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id","title":"ROR"},{"uri":"180036048","role":"organisation id","title":"SIREN"}]},{"name":"Thomas;BOURGERON","email":"thomas.bourgeron@pasteur.fr","type":"contact","affiliationName":"INSTITUT PASTEUR","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/0495fxg12","role":"organisation id","title":"ROR"},{"uri":"775684897","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[],"topics":[{"topic":"Neurology","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25"},{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D009462"}]},{"topic":"Psychiatry","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/3de50dee-da1c-4791-a386-56bca24a5fed"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D011570"}]},{"topic":"Autism spectrum disorder","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/437815624","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"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.","abstract":"","coll_dates":[{"start":"1995-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Female\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D005260\"\n            }\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"value\": \"Child (6 to 12 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"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\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Clinical data','Participant-reported health data','Biological data','Paraclinical data (non-biological) : Imaging']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":"['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.']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"SelfAdministeredQuestionnaire\",\"vocab\":\"CESSDA\"},\"value\":\"Self-administered questionnaire\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Interview with the participant (including clinical)\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"[1000-10000[ individuals","response_rate":"1800"},"method_notes":"Observational Study","study_class":"Completed study","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Case-control study"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"Possible data utilization by academic teams. Data exploitation not available for industry sectors.","conditions":"Access condition : international USA collaboration (Autism Genome Project) leading to publications.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"en","originLang":"en","autoTranslation":false,"status":"imported","creationDate":"08-03-2013","lastUpdatedAuto":null,"lastUpdatedManual":"28-02-2014","isContributorPI":"No","contributorName":"Marion LEBOYER","contributorAffiliation":"UNIVERSITE PARIS EST CRETEIL VAL DE MARNE (UPEC)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Private non-profit","Private non-profit","Public (France)"],"otherFundingAgentType":["","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":"Yes","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Self-questionnaire: manually filled paper questionnaire Interviews: manually filled paper questionnaire Clinical examination: handwritten Biological exams: handwritten","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"No"},"geographicalCoverage":{"geoDetail":"8 centers in France (+international collaborations)"},"dataTypes":{"clinicalDataDetails":"Clinical examination at inclusion and every year during the follow-up: - Medical and psychiatric history (personal, family) - Biological examinations - Diagnostic evaluation","biologicalDataDetails":"Saliva and blood for neurotransmitter level and genetic analysis","isDataInBiobank":"Yes","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Yes","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}