Provision of genetic services for autism and its impact on Spanish families
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- dc.contributor.author Codina i Solà, Marta, 1988-ca
- dc.contributor.author Pérez Jurado, Luis Albertoca
- dc.contributor.author Cuscó Martí, Ivon, 1973-ca
- dc.contributor.author Serra Juhé, Clara, 1984-ca
- dc.date.accessioned 2017-07-25T07:23:34Z
- dc.date.available 2017-07-25T07:23:34Z
- dc.date.issued 2017
- dc.description.abstract Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information.
- dc.description.sponsorship This study was funded by the Spanish Ministry of Economy and Competitivity (PI1300823 and PI1302481 co-funded by FEDER, and “Programa de Excelencia Maria de Maeztu” MDM-2014-0370), the Generalitat de Catalunya (SRG1468-2014) and the ICREA-Academia Program. CIBERER is an initiative of the Instituto de Salud Carlos III, Spain
- dc.format.mimetype application/pdfca
- dc.identifier.citation Codina-Solà M, Pérez-Jurado LA, Cuscó I, Serra-Juhé C. Provision of genetic services for autism and its impact on Spanish families. J Autism Dev Disord. 2017 Oct;47(10):2947-56. DOI: 10.1007/s10803-017-3203-4
- dc.identifier.doi http://dx.doi.org/10.1007/s10803-017-3203-4
- dc.identifier.issn 0162-3257
- dc.identifier.uri http://hdl.handle.net/10230/32619
- dc.language.iso eng
- dc.publisher Springerca
- dc.relation.ispartof Journal of Autism and Developmental Disorders. 2017 Oct;47(10):2947-56
- dc.rights © Marta Codina-Solà, Luis A. Pérez-Jurado, Ivon Cuscó, Clara Serra-Juhé 2017. This article is an open access publication
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/4.0/
- dc.subject.other Autisme
- dc.subject.other Autisme -- Aspectes genètics
- dc.subject.other Família -- Salut i higiene -- Espanya
- dc.title Provision of genetic services for autism and its impact on Spanish familiesca
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion