Pharmacogenetic Interventions Improve the Clinical Outcome of Treatment-Resistant Autistic Spectrum Disorder Sufferers
Arranz, María Jesús (Centro de Investigación Biomédica en Red de Salud Mental)
Salazar, Juliana (Institut d'Investigació Biomèdica Sant Pau)
Bote, Valentin (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Artigas-Baleri, Alícia (Institut d'Investigació Biomèdica Sant Pau)
Serra-Llovich, Alexandre (Fundació Docència i Recerca Mútua Terrassa)
Triviño, Emma (Genetics Department. Catlab)
Roige, Jordi (Genetics Department. Catlab)
Lombardia, Carlos (Genetics Department. Catlab)
Cancino, Martha (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Hernandez, Marta (Universitat Ramon Llull)
Cendros, Marc (EUGENOMIC Genómica y Farmacogenética)
Duran-Tauleria, Enric (Institut Global d'Atenció Integral al Neurodesenvolupament (IGAIN))
Maraver, Natalia (Institut Global d'Atenció Integral al Neurodesenvolupament (IGAIN))
Hervas, Amaia (Institut Global d'Atenció Integral al Neurodesenvolupament (IGAIN))
Universitat Autònoma de Barcelona

Date:	2022
Abstract:	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. 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. 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; difference in CGAS scores: 6. 59, SD 7. 76, p = 5 × 10). 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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	ASD ; Antidepressants ; Antipsychotics ; Anxiolytics ; Personalisation of treatment ; Pharmacogenetic intervention ; Pharmacotherapy
Published in:	Pharmaceutics, Vol. 14 Núm. 5 (may 2022) , p. 999, ISSN 1999-4923

DOI: 10.3390/pharmaceutics14050999
PMID: 35631585

12 p, 1.1 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles