Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study

Introduction: Up to 73% of individuals with autism spectrum disorder (ASD) and intellectual disability (ID) currently have prescriptions for psychotropic drugs. This is explained by a higher prevalence of medical and psychiatric chronic comorbidities, which favors polypharmacy, increasing the probab...

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Autores: Miguel, Laura de, Ballester, Pura, Egoavil, Cecilia, Sánchez-Ocaña, María Luisa, García-Muñoz, Ana María, Cerdá, Begoña, ZAFRILLA, PILAR, Ramos, Enrique, Peiró, Ana
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad Miguel Hernández de Elche
Repositorio:REDIUMH. Depósito Digital de la UMH
OAI Identifier:oai:dspace.umh.es:11000/32352
Acceso en línea:https://hdl.handle.net/11000/32352
Access Level:acceso abierto
Palabra clave:autismspectrumdisorder
pharmacogenetics
adverse events
polypharmacy
dopaminergic system
CDU::6 - Ciencias aplicadas::61 - Medicina::615 - Farmacología. Terapéutica. Toxicología. Radiología
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spelling Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot StudyMiguel, Laura deBallester, PuraEgoavil, CeciliaSánchez-Ocaña, María LuisaGarcía-Muñoz, Ana MaríaCerdá, BegoñaZAFRILLA, PILARRamos, EnriquePeiró, Anaautismspectrumdisorderpharmacogeneticsadverse eventspolypharmacydopaminergic systemCDU::6 - Ciencias aplicadas::61 - Medicina::615 - Farmacología. Terapéutica. Toxicología. RadiologíaIntroduction: Up to 73% of individuals with autism spectrum disorder (ASD) and intellectual disability (ID) currently have prescriptions for psychotropic drugs. This is explained by a higher prevalence of medical and psychiatric chronic comorbidities, which favors polypharmacy, increasing the probability of the appearance of adverse events (AEs). These could be a preventable cause of harm to patients with ASD and an unnecessary waste of healthcare resources. Objective: To study the impact of pharmacogenetic markers on the prevention of AE appearance in a population with ASD and ID. Methods: This is a cross-sectional, observational study (n = 118, 72 participants completed all information) in the ASD population. Sociodemographic and pharmacological data were gathered. The Udvalg for Kliniske Undersøgelser Scale (UKU Scale) was used to identify AEs related to the use of psychotropic medication. Polymorphisms of DOP2, ABCB1, and COMT were genotyped and correlated with the AE to find candidate genes. Furthermore, a review of all medications assessed in a clinical trial for adults with autism was performed to enrich the search for potential pharmacogenetic markers, keeping in mind the usual medications. Results: The majority of the study population were men (75%) with multiple comorbidities and polypharmacy, the most frequently prescribed drugs were antipsychotics (69%); 21% of the participants had four or more AEs related to psychotropic drugs. The most common were “Neurological” and” Psychiatric” (both 41%). Statistical analysis results suggested a significant correlation between the neurological symptoms and the DOP2 genotype, given that they are not equally distributed among its allelic variants. The final review considered 19 manuscripts of medications for adults with ASD, and the confirmed genetic markers for those medications were consulted in databases. Conclusion: A possible correlation between neurologic AEs and polymorphisms of DOP2 was observed; therefore, studying this gene could contribute to the safety of this population’s prescriptions. The following studies are underway to maximize statistical power and have a better representation of the population.MDPIDepartamentos de la UMH::Farmacología, Pediatría y Química OrgánicaInstitutos de la UMH::Instituto de Bioingeniería202420242023info:eu-repo/semantics/articleapplication/pdf17application/pdfhttps://hdl.handle.net/11000/32352reponame:REDIUMH. Depósito Digital de la UMHinstname:Universidad Miguel Hernández de ElcheIngléshttps://doi.org/10.3390/ph16101496info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/4.0/oai:dspace.umh.es:11000/323522026-05-27T13:36:21Z
dc.title.none.fl_str_mv Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
title Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
spellingShingle Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
Miguel, Laura de
autismspectrumdisorder
pharmacogenetics
adverse events
polypharmacy
dopaminergic system
CDU::6 - Ciencias aplicadas::61 - Medicina::615 - Farmacología. Terapéutica. Toxicología. Radiología
title_short Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
title_full Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
title_fullStr Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
title_full_unstemmed Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
title_sort Pharmacogenetics May Prevent Psychotropic Adverse Events in Autism Spectrum Disorder: An Observational Pilot Study
dc.creator.none.fl_str_mv Miguel, Laura de
Ballester, Pura
Egoavil, Cecilia
Sánchez-Ocaña, María Luisa
García-Muñoz, Ana María
Cerdá, Begoña
ZAFRILLA, PILAR
Ramos, Enrique
Peiró, Ana
author Miguel, Laura de
author_facet Miguel, Laura de
Ballester, Pura
Egoavil, Cecilia
Sánchez-Ocaña, María Luisa
García-Muñoz, Ana María
Cerdá, Begoña
ZAFRILLA, PILAR
Ramos, Enrique
Peiró, Ana
author_role author
author2 Ballester, Pura
Egoavil, Cecilia
Sánchez-Ocaña, María Luisa
García-Muñoz, Ana María
Cerdá, Begoña
ZAFRILLA, PILAR
Ramos, Enrique
Peiró, Ana
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Departamentos de la UMH::Farmacología, Pediatría y Química Orgánica
Institutos de la UMH::Instituto de Bioingeniería
dc.subject.none.fl_str_mv autismspectrumdisorder
pharmacogenetics
adverse events
polypharmacy
dopaminergic system
CDU::6 - Ciencias aplicadas::61 - Medicina::615 - Farmacología. Terapéutica. Toxicología. Radiología
topic autismspectrumdisorder
pharmacogenetics
adverse events
polypharmacy
dopaminergic system
CDU::6 - Ciencias aplicadas::61 - Medicina::615 - Farmacología. Terapéutica. Toxicología. Radiología
description Introduction: Up to 73% of individuals with autism spectrum disorder (ASD) and intellectual disability (ID) currently have prescriptions for psychotropic drugs. This is explained by a higher prevalence of medical and psychiatric chronic comorbidities, which favors polypharmacy, increasing the probability of the appearance of adverse events (AEs). These could be a preventable cause of harm to patients with ASD and an unnecessary waste of healthcare resources. Objective: To study the impact of pharmacogenetic markers on the prevention of AE appearance in a population with ASD and ID. Methods: This is a cross-sectional, observational study (n = 118, 72 participants completed all information) in the ASD population. Sociodemographic and pharmacological data were gathered. The Udvalg for Kliniske Undersøgelser Scale (UKU Scale) was used to identify AEs related to the use of psychotropic medication. Polymorphisms of DOP2, ABCB1, and COMT were genotyped and correlated with the AE to find candidate genes. Furthermore, a review of all medications assessed in a clinical trial for adults with autism was performed to enrich the search for potential pharmacogenetic markers, keeping in mind the usual medications. Results: The majority of the study population were men (75%) with multiple comorbidities and polypharmacy, the most frequently prescribed drugs were antipsychotics (69%); 21% of the participants had four or more AEs related to psychotropic drugs. The most common were “Neurological” and” Psychiatric” (both 41%). Statistical analysis results suggested a significant correlation between the neurological symptoms and the DOP2 genotype, given that they are not equally distributed among its allelic variants. The final review considered 19 manuscripts of medications for adults with ASD, and the confirmed genetic markers for those medications were consulted in databases. Conclusion: A possible correlation between neurologic AEs and polymorphisms of DOP2 was observed; therefore, studying this gene could contribute to the safety of this population’s prescriptions. The following studies are underway to maximize statistical power and have a better representation of the population.
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/11000/32352
url https://hdl.handle.net/11000/32352
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.3390/ph16101496
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.format.none.fl_str_mv application/pdf
17
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:REDIUMH. Depósito Digital de la UMH
instname:Universidad Miguel Hernández de Elche
instname_str Universidad Miguel Hernández de Elche
reponame_str REDIUMH. Depósito Digital de la UMH
collection REDIUMH. Depósito Digital de la UMH
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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