2026-04-18T01:10:55Zhttps://recercat.cat/oai/request

oai:recercat.cat:20.500.14342/37252025-05-15T19:20:48Zcom_2072_482405com_2072_183628col_2072_482409

Pharmacogenetic interventions improve the clinical outcome of treatment-resistant autistic spectrum disorder sufferers Arranz, Maria J Salazar, Juliana Bote, Valentin Artigas-Baleri, Alícia Serra-Llovich, Alexandre Triviño, Emma Roige, Jordi Lombardia, Carlos Cancino, Martha Hernández Hernández, Marta Cendros, Marc Duran-Tauleria, Enric Maraver, Natalia Hervas, Amaia Infants autistes Autisme ASD Farmacogenètica Farmacologia Antipsicòtics Antidepressius Tranquil·lizants BACKGROUND: 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. 2025-05-15T19:20:48Z 2025-05-15T19:20:48Z 2025-05-15T19:20:48Z 2022-05 info:eu-repo/semantics/article http://hdl.handle.net/20.500.14342/3725 https://doi.org/10.3390/pharmaceutics14050999 eng Pharmaceutics, 2022, 14 (5), 999 info:eu-repo/grantAgreement/SUR del DEC/SLT006/17/00148 http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess © L'autor/a Attribution 4.0 International MDPI