Translating precision medicine for autism spectrum disorder: A pressing need. Issue 3 (March 2023)

• Record Type: Journal Article
• Authors: Pérez-Cano, Laura; Azidane Chenlo, Sara; Sabido-Vera, Rubén; Sirci, Francesco; Durham, Lynn; Guney, Emre
• Is Part Of: Drug discovery today. Volume 28:Issue 3(2023)
• Publication Date: 2023-03
• Subjects: Autism spectrum disorder -- neurodevelopmental disorders -- omics-based data analysis -- precision medicine -- systems biology; ASD Autism spectrum disorder -- NDD Neurodevelopmental disorder -- DSM-5 Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition -- ADHD Attention-deficit/hyperactivity disorder -- LoF Loss of function -- CNV Copy number variation -- CNS Central nervous system -- FDR False discovery rate -- GABA Gamma-aminobutyric acid -- TD Typically developing -- CAMP Children's Autism Metabolome Project -- EHR Electronic health record -- DEPI Database endophenotyping patient identification -- FDA Food and Drug Administration -- ML Machine learning -- SSRIs Selective serotonin reuptake inhibitors -- CARS Childhood Autism Rating Scale -- SRS Social Responsiveness Scale -- MRI Magnetic resonance imaging -- ATP Adenosine triphosphate -- CGI Clinical Global Impression -- EEG Electroencephalography -- ADOS Autism Diagnostic Observation Schedule -- NKCC1 Na-K-Cl cotransporter; Drugs -- Design -- Periodicals; Drugs -- Research -- Periodicals; 615.1
• DOI: 10.1016/j.drudis.2023.103486
• Languages: English
• ISSNs: 1359-6446

Abstract

Abstract : Autism spectrum disorder (ASD) is a heterogenous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. Currently, ASD is diagnosed according to behavior-based criteria that overlook clinical and genomic heterogeneity, thus repeatedly resulting in failed clinical trials. Here, we summarize the scientific evidence pointing to the pressing need to create a precision medicine framework for ASD and other NDDs. We discuss the role of omics and systems biology to characterize more homogeneous disease subtypes with different underlying pathophysiological mechanisms and to determine corresponding tailored treatments. Finally, we provide recent initiatives towards tackling the complexity in NDDs for precision medicine and cost-effective drug discovery.