Provision of genetic services for autism and its impact on Spanish families

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To access the full text documents, please follow this link: http://hdl.handle.net/10230/32619

dc.contributor.author	Codina i Solà, Marta, 1988-
dc.contributor.author	Pérez Jurado, Luis Alberto
dc.contributor.author	Cuscó Martí, Ivon, 1973-
dc.contributor.author	Serra Juhé, Clara, 1984-
dc.date	2017
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): 2947-2956. DOI: 10.1007/s10803-017-3203-4
dc.identifier.citation	0162-3257
dc.identifier.citation	http://dx.doi.org/10.1007/s10803-017-3203-4
dc.identifier.uri	http://hdl.handle.net/10230/32619
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	Springer
dc.rights	© Marta Codina-Solà, Luis A. Pérez-Jurado, Ivon Cuscó, Clara Serra-Juhé 2017. This article is an open access publication
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	http://creativecommons.org/licenses/by/4.0/
dc.subject	Autisme
dc.subject	Autisme -- Aspectes genètics
dc.subject	Família -- Salut i higiene -- Espanya
dc.title	Provision of genetic services for autism and its impact on Spanish families
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
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.abstract	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

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