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dc.contributorUniversitat Ramon Llull. Facultat de Ciències de la Salut Blanquerna
dc.contributor.authorArranz, Maria J
dc.contributor.authorSalazar, Juliana
dc.contributor.authorBote, Valentin
dc.contributor.authorArtigas-Baleri, Alícia
dc.contributor.authorSerra-Llovich, Alexandre
dc.contributor.authorTriviño, Emma
dc.contributor.authorRoige, Jordi
dc.contributor.authorLombardia, Carlos
dc.contributor.authorCancino, Martha
dc.contributor.authorHernández Hernández, Marta
dc.contributor.authorCendros, Marc
dc.contributor.authorDuran-Tauleria, Enric
dc.contributor.authorMaraver, Natalia
dc.contributor.authorHervas, Amaia
dc.date.accessioned2024-01-16T21:51:48Z
dc.date.available2024-01-16T21:51:48Z
dc.date.created2022-03
dc.date.issued2022-05
dc.identifier.urihttp://hdl.handle.net/20.500.14342/3725
dc.description.abstractBACKGROUND: Autistic spectrum disorders (ASD) are severe neurodevelopmental alterations characterised by deficits in social communication and repetitive and restricted behaviours. About a third of patients receive pharmacological treatment for comorbid symptoms. However, 30–50% do not respond adequately and/or present severe and long-lasting side effects. METHODS: Genetic variants in CYP1A2, CYP2C19, CYP2D6 and SLC6A4 were investigated in N = 42 ASD sufferers resistant to pharmacological treatment. Clinical recommendations based on their pharmacogenetic profiles were provided within 24–48 h of receiving a biological sample. RESULTS: A total of 39 participants (93%) improved after the pharmacogenetic intervention according to their CGI scores (difference in basal-final scores: 2.26, SD 1.55) and 37 participants (88%) according to their CGAS scores (average improvement of 20.29, SD 11.85). Twenty-three of them (55%) achieved symptom stability (CGI ≤ 3 and CGAS improvement ≥ 20 points), requiring less frequent visits to their clinicians and hospital stays. Furthermore, the clinical improvement was higher than that observed in a control group (N = 62) with no pharmacogenetic interventions, in which 66% responded to treatment (difference in CGI scores: −0.87, SD 9.4, p = 1 × 10−5; difference in CGAS scores: 6.59, SD 7.76, p = 5 × 10−8). CONCLUSIONS: The implementation of pharmacogenetic interventions has the potential to significantly improve the clinical outcomes in severe comorbid ASD populations with drug treatment resistance and poor prognosis.ca
dc.format.extent12 p.ca
dc.language.isoengca
dc.publisherMDPIca
dc.relation.ispartofPharmaceutics, 2022, 14 (5), 999ca
dc.rights© L'autor/aca
dc.rightsAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.otherInfants autistesca
dc.subject.otherAutismeca
dc.subject.otherASDca
dc.subject.otherFarmacogenèticaca
dc.subject.otherFarmacologiaca
dc.subject.otherAntipsicòticsca
dc.subject.otherAntidepressiusca
dc.subject.otherTranquil·lizantsca
dc.titlePharmacogenetic interventions improve the clinical outcome of treatment-resistant autistic spectrum disorder sufferersca
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/10.3390/pharmaceutics14050999ca
dc.relation.projectIDinfo:eu-repo/grantAgreement/SUR del DEC/SLT006/17/00148ca
dc.description.versioninfo:eu-repo/semantics/publishedVersionca


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