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dc.contributorUniversitat Ramon Llull. Facultat de Ciències de la Salut Blanquerna
dc.contributor.authorHernández Hernández, Marta
dc.contributor.authorBote, Valentin
dc.contributor.authorSerra-Llovich, Alexandre
dc.contributor.authorCendros, Marc
dc.contributor.authorSalazar, Juliana
dc.contributor.authorMestres Miralles, Concepción
dc.contributor.authorGuijarro, Silvina
dc.contributor.authorAlvarez, Aida
dc.contributor.authorLamborena, Cristina
dc.contributor.authorMendez, Iria
dc.contributor.authorSánchez, Bernardo
dc.contributor.authorHervas, Amaia
dc.contributor.authorArranz, Maria J
dc.date.accessioned2024-01-14T16:51:21Z
dc.date.available2024-01-14T16:51:21Z
dc.date.created2022-06
dc.date.issued2022-11
dc.identifier.urihttp://hdl.handle.net/20.500.14342/3719
dc.description.abstractPurpose Autistic spectrum disorders (ASD) children and adolescents usually present comorbidities, with 40–70% of them affected by attention deficit hyperactivity disorders (ADHD). The first option of pharmacological treatment for these patients is methylphenidate (MPH). ASD children present more side effects and poorer responses to MPH than ADHD children. The objective of our study is to identify genetic biomarkers of response to MPH in ASD children and adolescents to improve its efficacy and safety. Patients and Methods A retrospective study with a total of 140 ASD children and adolescents on MPH treatment was included. Fifteen polymorphisms within genes coding for the MPH target NET1 (SLC6A2) and for its primary metabolic pathway (CES1) were genotyped. Multivariate analyses including response phenotypes (efficacy, side-effects, presence of somnolence, irritability, mood alterations, aggressivity, shutdown, other side-effects) were performed for every polymorphism and haplotype. Results Single marker analyses considering gender, age, and dose as covariates showed association between CES1 variants and MPH-induced side effects (rs2244613-G (p=0.04), rs2302722-C (p=0.02), rs2307235-A (p=0.03), and rs8192950-T alleles (p=0.03)), and marginal association between the CES1 rs2302722-C allele and presence of somnolence (p=0.05) and the SLC6A2 rs36029-G allele and shutdown (p=0.05). A CES1 haplotype combination was associated with efficacy and side effects (p=0.02 and 0.03 respectively). SLC6A2 haplotype combination was associated with somnolence (p=0.05). Conclusion CES1 genetic variants may influence the clinical outcome of MPH treatment in ASD comorbid with ADHD children and adolescents.ca
dc.format.extent7 p.ca
dc.language.isoengca
dc.publisherDove Medical Pressca
dc.relation.ispartofPharmacogenomics and personalized medicine, 2022, vol. 15, p. 951-957ca
dc.rights© L'autor/a*
dc.rightsAttribution-NonCommercial 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.otherTrastorn per dèficit d'atenció amb hiperactivitat -- Tractamentca
dc.subject.otherInfants autistesca
dc.subject.otherAutismeca
dc.subject.otherADHDca
dc.subject.otherCES1ca
dc.subject.otherSLC6A2ca
dc.subject.otherMetilfenidatca
dc.subject.otherAntidepressiusca
dc.titleCES1 and SLC6A2 genetic variants as predictors of response to methylphenidate in autism spectrum disordersca
dc.typeinfo:eu-repo/semantics/articleca
dc.rights.accessLevelinfo:eu-repo/semantics/openAccess
dc.embargo.termscapca
dc.subject.udc615ca
dc.subject.udc616.89ca
dc.identifier.doihttps://doi.org/10.2147/PGPM.S377210ca
dc.relation.projectIDinfo:eu-repo/grantAgreement/MINECO/ISCIII/FIS-PI21/01946ca
dc.relation.projectIDinfo:eu-repo/grantAgreement/URL i SUR del DEC/Projectes de recerca PDI/2021-URL-Proj-002ca
dc.description.versioninfo:eu-repo/semantics/publishedVersionca


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Except where otherwise noted, this item's license is described as http://creativecommons.org/licenses/by-nc/4.0/
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