{"doc_desc":{"title":"\u00c9tude cas-t\u00e9moins sur les facteurs g\u00e9n\u00e9tiques impliqu\u00e9s dans l'autisme et les troubles apparent\u00e9s","idno":"FRESH-PEF60112-fr","producers":[{"name":"Marion LEBOYER","affiliation":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60112-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"60112"},{"agency":"FReSH","code":"FRESH-PEF60112"}]},"title":"\u00c9tude cas-t\u00e9moins sur les facteurs g\u00e9n\u00e9tiques impliqu\u00e9s dans l'autisme et les troubles apparent\u00e9s","alternate_title":"AUTISME"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"name":"Marion;LEBOYER","firstname":"Marion","lastname":"LEBOYER","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"SIREN","uri":"180036048","role":"organisation id"}],"email":"marion.leboyer@inserm.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"U 955 - \u00c9quipe 15 - P\u00f4le de psychiatrie adultes - GH Mondor Chenevier <br\/>Inserm","isContact":true},{"name":"Thomas;BOURGERON","firstname":"Thomas","lastname":"BOURGERON","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/0495fxg12","role":"organisation id"},{"title":"SIREN","uri":"775684897","role":"organisation id"}],"email":"thomas.bourgeron@pasteur.fr","affiliationName":"INSTITUT PASTEUR","PILabo":"INSTITUT PASTEUR UNIT\u00c9 DE G\u00c9N\u00c9TIQUE HUMAINE ET FONCTIONS COGNITIVES 24-28 RUE DU DR ROUX - 75015 PARIS INSTITUT PASTEUR","isContact":true}],"oth_id":[{"name":"Implication dans un r\u00e9seau de cohorte : RECHERCHE BIOMEDICALE AOM 95-076 : PROMOTION AP-HP DE 1995 A OCT 2008 RECHERCHE BIOMEDICALE C07-33 : PROMOTION INSERM A PARTIR DE NOV 2008 RESEAU DES CENTRES EXPERTS ASPERGER DE LA FONDATION FONDAMENTAL RESEAU INSERM PSYCHIATRIE GENETIQUE Inclusion dans un projet europ\u00e9en : ETUDE EUROPEENNE P.A.R.I.S. COORDONNEE PAR LE PR MARION LEBOYER ET LE PR CHRISTOPHE GILLBERG","type":"collaboration"}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (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","lastname":"LEBOYER","firstname":"Marion","type":"contact","email":"marion.leboyer@inserm.fr","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","lastname":"BOURGERON","firstname":"Thomas","type":"contact","email":"thomas.bourgeron@pasteur.fr","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":[{"keyword":"apparent\u00e9s"},{"keyword":"spectre autistique"},{"keyword":"maladies g\u00e9n\u00e9tiques"},{"keyword":"ph\u00e9notypes cliniques"},{"keyword":"cognitifs"},{"keyword":"biochimiques"},{"keyword":"corr\u00e9lations g\u00e9notype \/ ph\u00e9notype."},{"keyword":"facteurs g\u00e9n\u00e9tiques"}],"topics":[{"topic":"Neurologie","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":"Psychiatrie","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":"Troubles du spectre de l'autisme","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/437815624","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Identifier les facteurs g\u00e9n\u00e9tiques impliqu\u00e9s dans l'autisme et les troubles apparent\u00e9s Objectif secondaire : - Poursuivre le recrutement des patients et apparent\u00e9s ; - Identifier et recenser les formes des troubles du spectre autistique secondaires \u00e0 des maladies g\u00e9n\u00e9tiques ; - \u00c9tudier des ph\u00e9notypes cliniques, cognitifs, et biochimiques des patients et des apparent\u00e9s ; - Poursuivre l\u2019\u00e9tude des g\u00e8nes impliqu\u00e9s dans l\u2019autisme ; - \u00c9tudier des corr\u00e9lations g\u00e9notype \/ ph\u00e9notype.","abstract":"","coll_dates":[{"start":"1995-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"F\u00e9minin\",\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\": \"Enfance (6 \u00e0 12 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        },\n        {\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000293\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Des patients ou sujets dits proposants : - patient atteint d\u2019autisme devant remplir les crit\u00e8res diagnostiques du DSM-IV [american psychiatric association, 1994] et les crit\u00e8res de l\u2019ADI-R (autism diagnostic interview-revised, Lord et Coll., 1994) pour l\u2019autisme ou patient atteint du syndrome d\u2019asperger devant remplir les crit\u00e8res DM-IV ainsi que les crit\u00e8res de l\u2019ASDI (asperger syndrome diagnostic interview, Gillberg et Coll., 2001) pour le syndrome d\u2019asperger ou patient avec TSA-NS devant remplir les crit\u00e8res diagnostiques du DSM-IV ; - \u00eatre \u00e2g\u00e9 de 2 ans minimum, sans limite sup\u00e9rieure d'\u00e2ge ; - \u00e9tat somatique compatible avec une prise de sang ; - affiliation au r\u00e9gime de la s\u00e9curit\u00e9 sociale ; - signature du consentement \u00e9clair\u00e9.  Des apparent\u00e9s de premier degr\u00e9 (parents, fr\u00e8res et s\u0153urs) : - signature du consentement \u00e9clair\u00e9 par le proposant ou par les titulaires de l\u2019autorit\u00e9 parentale si le sujet est mineur ou par le tuteur si le sujet est sous tutelle ; - \u00e9tat somatique et intellectuel compatible avec une prise de sang ; - affiliation au r\u00e9gime de la s\u00e9curit\u00e9 sociale ;  Des t\u00e9moins adultes - \u00eatre \u00e2g\u00e9 entre 18 et 50 ans ; - \u00eatre caucasien ; - absence de pathologie psychiatrique v\u00e9rifi\u00e9e avec la digs (diagnostic interview for genetic studies, nurnberger et coll., 1994) pour les adultes ; - \u00e9tat somatique et intellectuel compatible avec une prise de sang ; - signature du consentement \u00e9clair\u00e9 ; - affiliation au r\u00e9gime de s\u00e9curit\u00e9 sociale.  Des t\u00e9moins enfants - \u00eatre \u00e2g\u00e9 de 2 ans minimum ; - \u00eatre caucasien ; - b\u00e9n\u00e9ficiaire du r\u00e9gime de s\u00e9curit\u00e9 sociale ; - absence de pathologie psychiatrique v\u00e9rifi\u00e9e avec la Kiddie-sads (kiddie schedule for affective disorders and schizophrenia for school-age children, Orvaschel et Coll., 1982) ; - signature du consentement \u00e9clair\u00e9 par les titulaires de l\u2019autorit\u00e9 parentale.\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es rapport\u00e9es par le participant de l&#x27;\u00e9tude','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":"['- Pr\u00e9sence d\\'une requ\u00eate de coh\u00e9rence au moment de la saisie des donn\u00e9es informatiques et apr\u00e8s la saisie des donn\u00e9es informatiques ; - Gestion des donn\u00e9es manquantes : Retour au dossier source ; - Relance des m\u00e9decins pour r\u00e9aliser les visites de suivi ; - Relance des sujets pour r\u00e9aliser les visites de suivi ; - Les patients sont inform\u00e9s de l\\'utilisation de leur donn\u00e9es par \u00e9crit.']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Ev\u00e9nements de sant\u00e9\/morbidit\u00e9\r\nEv\u00e9nements de sant\u00e9\/mortalit\u00e9"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":"['Via des structures (services ou \u00e9tablissements de sant\u00e9, \u00e9coles, entreprises\u2026)']"}},"coll_mode":["{\"concept\":{\"vocabURI\":\"SelfAdministeredQuestionnaire\",\"vocab\":\"CESSDA\"},\"value\":\"Questionnaire auto-administr\u00e9\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"[1000-10000[ individus","response_rate":"1800"},"method_notes":"Etude observationnelle","study_class":"\u00c9tude compl\u00e9t\u00e9e","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Etude cas-t\u00e9moins"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Acc\u00e8s r\u00e9serv\u00e9\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"Utilisation possible des donn\u00e9es par des \u00e9quipes acad\u00e9miques. Utilisation impossible des donn\u00e9es par des industriels.","conditions":"Condition d&#x27;acc\u00e8s : collaboration internationale USA (autism genome project) conduisant \u00e0 des publications.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"08-03-2013","lastUpdatedAuto":null,"lastUpdatedManual":"28-02-2014","isContributorPI":false,"contributorName":"","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Priv\u00e9 \u00e0 but non lucratif","Priv\u00e9 \u00e0 but non lucratif","Public (France)"],"otherFundingAgentType":["","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Auto-questionnaire : saisie manuelle \u00e0 partir d\u2019un questionnaire papier Entretiens : saisie manuelle \u00e0 partir d\u2019un questionnaire papier Examens cliniques : saisie manuscrite Examens biologiques : saisie manuscrite","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"8 centres en France (+ collaborations internationales)"},"dataTypes":{"clinicalDataDetails":"Examen clinique \u00e0 l\u2019inclusion et au cours du suivi tous les ans : - ant\u00e9c\u00e9dents m\u00e9dicaux et psychiatriques (familiaux, personnels) - examens biologiques - \u00e9valuations diagnostiques","biologicalDataDetails":"Salive et sang pour dosage de neurotransmetteurs et analyses g\u00e9n\u00e9tiques.","isDataInBiobank":true,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}