Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder

Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD. The following study aims, firstly, to explore the factors that might influence professionals’ deci sions about the appropriateness of requesting genetic...

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Autores: Garrido-Torres, Nathalia, Marqués Rodríguez, Renata, Alemany-Navarro, María, Sánchez-García, Javier, García-Cerro, Susana, Ayuso, María Irene, González-Meneses López, Antonio, Martínez-Mir, Amalia, Ruiz Veguilla, Miguel, Crespo Facorro, Benedicto
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/173369
Acceso en línea:https://hdl.handle.net/11441/173369
https://doi.org/10.1007/s00787-024-02413-x
Access Level:acceso abierto
Palabra clave:Autism spectrum disorder
Neurodevelopmental disorders
Genetics
Child psychiatry
Diagnosis
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spelling Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorderGarrido-Torres, NathaliaMarqués Rodríguez, RenataAlemany-Navarro, MaríaSánchez-García, JavierGarcía-Cerro, SusanaAyuso, María IreneGonzález-Meneses López, AntonioMartínez-Mir, AmaliaRuiz Veguilla, MiguelCrespo Facorro, BenedictoAutism spectrum disorderNeurodevelopmental disordersGeneticsChild psychiatryDiagnosisSeveral studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD. The following study aims, firstly, to explore the factors that might influence professionals’ deci sions about the appropriateness of requesting genetic testing for their patients with ASD and, secondly, to determine the prevalence of genetic alterations in a representative sample of children with a diagnosis of ASD. Methods: We studied the clinical factors associated with the request for genetic testing in a sample of 440 children with ASD and the clinical factors of present genetic alterations. Even though the main guidelines recommend genetic testing all children with an ASD diagnosis, only 56% of children with an ASD diagnosis were genetically tested. The prevalence of genetic altera tions was 17.5%. These alterations were more often associated with intellectual disability and dysmorphic features. There are no objective data to explicitly justify the request for genetic testing, nor are there objective data to justify requesting one genetic study versus multiple studies. Remarkably, only 28% of males were genetically tested with the recommended tests (fragile X and CMA). Children with dysmorphic features and organic comorbidities were more likely to be genetic tested than those without. Previous diagnosis of ASD (family history of ASD) and attendance at specialist services were also associated with Genetically tested Autism Spectrum Disorder GTASD. Our findings emphasize the importance of establishing algorithms to facilitate targeted genetic consultation for individuals with ASD who are likely to benefit, con sidering clinical phenotypes, efficiency, ethics, and benefits.SpringerPsiquiatríaCTS1086: Psiquiatría Traslacional2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11441/173369https://doi.org/10.1007/s00787-024-02413-xreponame:idUS. Depósito de Investigación de la Universidad de Sevillainstname:Universidad de Sevilla (US)InglésEuropean Child & Adolescent Psychiatry, 33 (11), 3829-3840.https://link.springer.com/article/10.1007/s00787-024-02413-xinfo:eu-repo/semantics/openAccessoai:idus.us.es:11441/1733692026-06-17T12:51:07Z
dc.title.none.fl_str_mv Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
title Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
spellingShingle Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
Garrido-Torres, Nathalia
Autism spectrum disorder
Neurodevelopmental disorders
Genetics
Child psychiatry
Diagnosis
title_short Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
title_full Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
title_fullStr Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
title_full_unstemmed Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
title_sort Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
dc.creator.none.fl_str_mv Garrido-Torres, Nathalia
Marqués Rodríguez, Renata
Alemany-Navarro, María
Sánchez-García, Javier
García-Cerro, Susana
Ayuso, María Irene
González-Meneses López, Antonio
Martínez-Mir, Amalia
Ruiz Veguilla, Miguel
Crespo Facorro, Benedicto
author Garrido-Torres, Nathalia
author_facet Garrido-Torres, Nathalia
Marqués Rodríguez, Renata
Alemany-Navarro, María
Sánchez-García, Javier
García-Cerro, Susana
Ayuso, María Irene
González-Meneses López, Antonio
Martínez-Mir, Amalia
Ruiz Veguilla, Miguel
Crespo Facorro, Benedicto
author_role author
author2 Marqués Rodríguez, Renata
Alemany-Navarro, María
Sánchez-García, Javier
García-Cerro, Susana
Ayuso, María Irene
González-Meneses López, Antonio
Martínez-Mir, Amalia
Ruiz Veguilla, Miguel
Crespo Facorro, Benedicto
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Psiquiatría
CTS1086: Psiquiatría Traslacional
dc.subject.none.fl_str_mv Autism spectrum disorder
Neurodevelopmental disorders
Genetics
Child psychiatry
Diagnosis
topic Autism spectrum disorder
Neurodevelopmental disorders
Genetics
Child psychiatry
Diagnosis
description Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD. The following study aims, firstly, to explore the factors that might influence professionals’ deci sions about the appropriateness of requesting genetic testing for their patients with ASD and, secondly, to determine the prevalence of genetic alterations in a representative sample of children with a diagnosis of ASD. Methods: We studied the clinical factors associated with the request for genetic testing in a sample of 440 children with ASD and the clinical factors of present genetic alterations. Even though the main guidelines recommend genetic testing all children with an ASD diagnosis, only 56% of children with an ASD diagnosis were genetically tested. The prevalence of genetic altera tions was 17.5%. These alterations were more often associated with intellectual disability and dysmorphic features. There are no objective data to explicitly justify the request for genetic testing, nor are there objective data to justify requesting one genetic study versus multiple studies. Remarkably, only 28% of males were genetically tested with the recommended tests (fragile X and CMA). Children with dysmorphic features and organic comorbidities were more likely to be genetic tested than those without. Previous diagnosis of ASD (family history of ASD) and attendance at specialist services were also associated with Genetically tested Autism Spectrum Disorder GTASD. Our findings emphasize the importance of establishing algorithms to facilitate targeted genetic consultation for individuals with ASD who are likely to benefit, con sidering clinical phenotypes, efficiency, ethics, and benefits.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11441/173369
https://doi.org/10.1007/s00787-024-02413-x
url https://hdl.handle.net/11441/173369
https://doi.org/10.1007/s00787-024-02413-x
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv European Child & Adolescent Psychiatry, 33 (11), 3829-3840.
https://link.springer.com/article/10.1007/s00787-024-02413-x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:idUS. Depósito de Investigación de la Universidad de Sevilla
instname:Universidad de Sevilla (US)
instname_str Universidad de Sevilla (US)
reponame_str idUS. Depósito de Investigación de la Universidad de Sevilla
collection idUS. Depósito de Investigación de la Universidad de Sevilla
repository.name.fl_str_mv
repository.mail.fl_str_mv
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