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Provision of Genetic Services for Autism and its Impact on Spanish Families

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 auti...

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Autores principales: Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602032/
https://www.ncbi.nlm.nih.gov/pubmed/28681252
http://dx.doi.org/10.1007/s10803-017-3203-4
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author Codina-Solà, Marta
Pérez-Jurado, Luis A.
Cuscó, Ivon
Serra-Juhé, Clara
author_facet Codina-Solà, Marta
Pérez-Jurado, Luis A.
Cuscó, Ivon
Serra-Juhé, Clara
author_sort Codina-Solà, Marta
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s10803-017-3203-4) contains supplementary material, which is available to authorized users.
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spelling pubmed-56020322017-10-04 Provision of Genetic Services for Autism and its Impact on Spanish Families Codina-Solà, Marta Pérez-Jurado, Luis A. Cuscó, Ivon Serra-Juhé, Clara J Autism Dev Disord Original Paper 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s10803-017-3203-4) contains supplementary material, which is available to authorized users. Springer US 2017-07-05 2017 /pmc/articles/PMC5602032/ /pubmed/28681252 http://dx.doi.org/10.1007/s10803-017-3203-4 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Original Paper
Codina-Solà, Marta
Pérez-Jurado, Luis A.
Cuscó, Ivon
Serra-Juhé, Clara
Provision of Genetic Services for Autism and its Impact on Spanish Families
title Provision of Genetic Services for Autism and its Impact on Spanish Families
title_full Provision of Genetic Services for Autism and its Impact on Spanish Families
title_fullStr Provision of Genetic Services for Autism and its Impact on Spanish Families
title_full_unstemmed Provision of Genetic Services for Autism and its Impact on Spanish Families
title_short Provision of Genetic Services for Autism and its Impact on Spanish Families
title_sort provision of genetic services for autism and its impact on spanish families
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602032/
https://www.ncbi.nlm.nih.gov/pubmed/28681252
http://dx.doi.org/10.1007/s10803-017-3203-4
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