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<docDscr>
  <citation>
    <titlStmt>
      <titl>Study of genetic factors implied into autism and related disorders</titl>
      <IDNo>FRESH-PEF60112-en</IDNo>
    </titlStmt>
    <prodStmt>
      <producer abbr="" affiliation="INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)" role="">Marion LEBOYER</producer>
    </prodStmt>
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      <version></version>
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<stdyDscr>
  <citation>
    <titlStmt>
      <titl>
                Study of genetic factors implied into autism and related disorders            </titl>
      <altTitl>
                    AUTISME                </altTitl>
      <IDNo agency="FReSH-lang">
                FRESH-PEF60112-en            </IDNo>
      <IDNo agency="PEF">
                    60112                </IDNo>
      <IDNo agency="FReSH">
                    FRESH-PEF60112                </IDNo>
    </titlStmt>
    <rspStmt>
      <AuthEnty>
                    Marion LEBOYER                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)">
        <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="organisation id"/>
        <ExtLink title="SIREN" URI="180036048" role="organisation id"/>
      </AuthEnty>
      <AuthEnty>
                    Thomas BOURGERON                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="INSTITUT PASTEUR">
        <ExtLink title="ROR" URI="https://ror.org/0495fxg12" role="organisation id"/>
        <ExtLink title="SIREN" URI="775684897" role="organisation id"/>
      </AuthEnty>
      <othId affiliation="" type="collaboration">
                                    </othId>
    </rspStmt>
    <prodStmt>
      <producer role="sponsor">
                                            INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)                    
                                    </producer>
      <prodPlac>
                Epidemiology France Portal (PEF)            </prodPlac>
      <fundAg>
                                            ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)                    
                                    </fundAg>
      <fundAg>
                                            FONDATION D ENTREPRISE ORANGE                    
                                    </fundAg>
      <fundAg>
                                            Fondation FondaMental                    
                                    </fundAg>
      <fundAg>
                                            INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)                    
                                    </fundAg>
    </prodStmt>
    <distStmt>
      <distrbtr abbr="null">
                    null</distrbtr>
      <contact affiliation="INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)" email="marion.leboyer@inserm.fr">
                    Marion;LEBOYER
                                            <ExtLink title="ROR" URI="https://ror.org/02vjkv261" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="180036048" role="organisation id"/>
                                    </contact>
      <contact affiliation="INSTITUT PASTEUR" email="thomas.bourgeron@pasteur.fr">
                    Thomas;BOURGERON
                                            <ExtLink title="ROR" URI="https://ror.org/0495fxg12" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="775684897" role="organisation id"/>
                                    </contact>
      <depDate date="2026-06-16"/>
      <distDate date="2026-06-16"/>
    </distStmt>
    <biblCit format="">
            </biblCit>
    <holdings URI="null"/>
    <notes> </notes>
  </citation>
  <stdyInfo>
    <studyBudget/>
    <subject>
      <topcClas vocab="health theme">
                        Neurology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/c4793dfe-e80e-49dd-9fcc-a1a742de1b25"/>
                                                            <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D009462"/>
                                                </topcClas>
      <topcClas vocab="health theme">
                        Psychiatry                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/3de50dee-da1c-4791-a386-56bca24a5fed"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D011570"/>
                                                </topcClas>
      <topcClas vocab="cim-11">
                        Autism spectrum disorder                                            </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants: Genetic predisposition                    </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants                    </topcClas>
    </subject>
    <abstract contentType="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>
    <abstract contentType="abstract">null</abstract>
    <sumDscr>
      <collDate event="start" date="1995-01-01"/>
      <nation abbr="fr">
                    France
                                            <concept vocab="ISO" vocabURI="fr"/>
                                    </nation>
      <geogUnit/>
      <anlyUnit>
                Individuals            </anlyUnit>
      <universe level="type" clusion="I">Patients population                    </universe>
      <universe level="sex" clusion="I">Female                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D005260"/>
                                                    </universe>
      <universe level="age" clusion="I">Child (6 to 12 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D002648"/>
                                                    </universe>
      <universe 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                    </universe>
      <dataKind>Clinical data</dataKind>
      <dataKind>Participant-reported health data</dataKind>
      <dataKind>Biological data</dataKind>
      <dataKind>Paraclinical data (non-biological) : Imaging</dataKind>
    </sumDscr>
    <qualityStatement>
      <otherQualityStatement>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.</otherQualityStatement>
    </qualityStatement>
  </stdyInfo>
  <studyDevelopment>
    <developmentActivity type="primary evaluation">
      <description>Health event/morbidity
Health event/mortality</description>
    </developmentActivity>
  </studyDevelopment>
  <method>
    <dataColl>
      <sampProc>Other                                                            <concept vocab="CESSDA" vocabURI="Other"/>
                                                    </sampProc>
      <sampleFrame>
        <frameUnit>
          <unitType>Through organizations (health services or institutions</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>schools</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>businesses</unitType>
        </frameUnit>
        <frameUnit>
          <unitType>etc.)</unitType>
        </frameUnit>
      </sampleFrame>
      <targetSampleSize>
        <sampleSizeFormula>[1000-10000[ individuals                        </sampleSizeFormula>
      </targetSampleSize>
      <collMode>Self-administered questionnaire                                                            <concept vocab="CESSDA" vocabURI="SelfAdministeredQuestionnaire"/>
                                                    </collMode>
      <collMode>Interview with the participant (including clinical)                                                            <concept vocab="CESSDA" vocabURI="Interview"/>
                                                    </collMode>
    </dataColl>
    <notes>Observational Study</notes>
    <notes subject="research type">
                        Observational Study                    </notes>
    <notes subject="observational study method">
                        Case-control study                    </notes>
    <anlyInfo>
      <respRate>1800</respRate>
    </anlyInfo>
    <stdyClas>Completed study</stdyClas>
  </method>
  <dataAccs>
    <setAvail>
      <avlStatus>
                            Restricted access                                                    </avlStatus>
    </setAvail>
    <useStmt>
      <restrctn>Possible data utilization by academic teams. Data exploitation not available for industry sectors.</restrctn>
      <conditions>Access condition : international USA collaboration (Autism Genome Project) leading to publications.</conditions>
    </useStmt>
  </dataAccs>
  <othrStdyMat>
    <relMat>Access on specific project only</relMat>
  </othrStdyMat>
</stdyDscr>
<dataDscr>
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