2026-04-17T17:19:56Zhttps://recercat.cat/oai/requestoai:recercat.cat:20.500.14342/37252025-05-15T19:20:48Zcom_2072_482405com_2072_183628col_2072_482409
2025-05-15T19:20:48Z
urn:hdl:20.500.14342/3725
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
2022-03
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