{"doc_desc":{"title":"French Kabuki Syndrome Network","idno":"FRESH-PEF60191-en","producers":[{"name":"Stanislas LYONNET","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF60191-en","IDno":{"metadata_no":[{"agency":"PEF","code":"60191"},{"agency":"FReSH","code":"FRESH-PEF60191"}]},"title":"French Kabuki Syndrome Network","alternate_title":"RFSK"},"study_authorization":{"agency":[]},"authoring_entity":[{"name":"Honorine;KAYIRANGWA","firstname":"Honorine","lastname":"KAYIRANGWA","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"}],"email":"honorine.kayirangwa@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"Ap-HP","isContact":true},{"name":"Kim-Hanh;LE QUAN SANG","firstname":"Kim-Hanh","lastname":"LE QUAN SANG","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"}],"email":"kh.lequansang@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"H\u00f4pital Necker-Enfants Malades","isContact":true},{"name":"Stanislas;LYONNET","firstname":"Stanislas","lastname":"LYONNET","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id"},{"title":"SIREN","uri":"267500452","role":"organisation id"}],"email":"stanislas.lyonnet@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","PILabo":"H\u00f4pital Necker-Enfants Malades","isContact":true},{"name":"David;GENEVIEVE","firstname":"David","lastname":"GENEVIEVE","type":"investigator","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/051escj72","role":"organisation id"},{"title":"SIREN","uri":"130029796","role":"organisation id"}],"email":"d-genevieve@chu-montpellier.fr","affiliationName":"UNIVERSITE DE MONTPELLIER","PILabo":"CHRU MONTPELLIER, FACULT\u00c9 M\u00c9DECINE MONTPELLIER-N\u00ceMES, UNIVERSIT\u00c9 MONTPELLIER 1 \/ U844","isContact":true}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"sponsor id"},{"title":"SIREN","uri":"267500452","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/01wp0c315"},{"title":"SIREN","uri":"130016546"}]}]},"distribution_statement":{"contact":[{"name":"Honorine;KAYIRANGWA","lastname":"KAYIRANGWA","firstname":"Honorine","type":"contact","email":"honorine.kayirangwa@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"Kim-Hanh;LE QUAN SANG","lastname":"LE QUAN SANG","firstname":"Kim-Hanh","type":"contact","email":"kh.lequansang@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"Stanislas;LYONNET","lastname":"LYONNET","firstname":"Stanislas","type":"contact","email":"stanislas.lyonnet@aphp.fr","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"David;GENEVIEVE","lastname":"GENEVIEVE","firstname":"David","type":"contact","email":"d-genevieve@chu-montpellier.fr","affiliationName":"UNIVERSITE DE MONTPELLIER","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/051escj72","role":"organisation id","title":"ROR"},{"uri":"130029796","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"\u00e9pid\u00e9miology"},{"keyword":"kabuki"},{"keyword":"genetics"},{"keyword":"newborn"}],"topics":[{"topic":"Syndromes with multiple structural anomalies, not of environmental origin","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/1106405864","title":"CIM-11"}]},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"}],"purpose":"To create a census over the period of the study of French patients with KS in the national territory, with the aim of determining a realistic incidence of KS and to obtain other genetic epidemiological data. Secondary objective: - To correlate the autonomous status at birth with the psychomotor neurological outcome after 2 years. - To describe the autonomous development profile over the course of the first two years of life: - according to the specific criteria of the pregnancy, - according to morphometric data, - according to the neonatal respiratory, cardiac, neurological, digestive, and infectious morbidity criteria, - according to the incidence of near misses and rhythmic disorders [during] the first two years of life.","abstract":"","coll_dates":[{"start":"2009-01-01","end":"2013-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Male\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\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\": \"Infant, Newborn (birth to 28 days)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Infant (28 days to 2 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"every child born at the CHU de Saint-\u00c9tienne (inborn), whatever their term of hospital birth, in a neonatal unit at the time of registration (after 37 weeks, corrected in the event of prematurity) or in a maternity ward;  - signature of informed consent form by the parents or the holder(s) of parental authority;  - parents or holder(s) of parental authority who are enrolled in or are beneficiaries a social security regime\",\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":""}},"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":"< 500 individuals","response_rate":"110"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational 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":"","conditions":"Contact the principal investigator","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":"12-09-2017","isContributorPI":false,"contributorName":"","contributorAffiliation":"","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[]},"relatedDocument":[],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":true},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"Self-questionnaire: Manual entry using a paper questionnaire. Interviews: Manual entry using a paper questionnaire. Clinical examinations: Handwritten stage. Laboratory tests: Handwritten stage.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"Metropolitan France and the island of R\u00e9union by way of 17 centres"},"dataTypes":{"clinicalDataDetails":"Clinical examination upon inclusion and every year over the course of the follow-up Information collected during the clinical examination: - somatic, neurodevelopmental clinical examination; - additionally at 24 months: 2 tests may be conducted: - the \"Bayley Scales of Infant Development\" to evaluate the development of children from 1 month to 3 years of age, including a motor, cognitive, linguistic and social evaluation, - or the revised Brunet-L\u00e9zine test (neuropsychological assessment test) consisting of 4 areas of assessment (motor\/postural, ocular motor coordination, language, social relationships)","biologicalDataDetails":"","isDataInBiobank":true,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}