A review on promising genetic biomarkers and therapeutic interventions for advancing precision medicine principles for autism

Our partner journal Future Medicine AI has recently published a commentary on the promising genetic biomarkers and therapeutic interventions for advancing precision medicine in autism.

Abstract

Autism spectrum disorder (ASD) is an etiologically and clinically complex neurodevelopmental disorder that is characterized by various developmental disorders that impact daily functioning of life. Affected individuals typically exhibit symptoms such as restricted or repetitive behaviors (hand flapping, rocking from side to side, full body movements), challenges with social interactions, hyperactivity or lack of attention or interest (which could also be related to attention deficit hyperactivity disorder [ADHD]), difficulty in non-verbal and verbal communication, etc. [1–4]. Over several decades, the prevalence of autism has been rising at an alarming rate. According to the recent estimates from the Centers for Disease Control and Prevention (CDC) Autism and Developmental Disabilities Monitoring (ADDM) Network, about 1 in 54 children has been identified with ASD in 2020, while the incidence was 1 in 150 in 2007 [5].

The clinical symptoms in ASD patients vary significantly, suggesting that the syndrome affects each person differently and perhaps a reflection of the underlying genetic heterogeneity [6]. This means that people with ASD may require unique treatment plans, and treatment for ASD is most successful when it is designed to meet a patient’s specific needs [4]. Currently, ASD is primarily diagnosed using behavioral testing, all of which are not detected at least until three years of age. Therefore, there is a critical need for an earlier diagnosis of ASD risk children so that behavioral and therapeutic interventions could be initiated at an age where they are most effective [7,8].

To understand the underlying core molecular mechanisms and genetic perturbations (gene mutations, chromosome deletions or duplications, inherited variants) associated with ASD, scientists have been banking on the recent genetic and bioinformatic advances. A good understanding of the underlying mechanism for various clinical symptoms can lead to identification of potential biomarkers and development of effective drugs to treat these conditions.

In addition, various targeted behavioral therapies such as ‘Applied Behavior Analysis’ (ABA), psychological therapy, physical therapy and virtual reality and gaming interventions are at various stages of development. The adoption of these approaches may complement the therapeutic strategies and can contribute to improved quality of life for patients. This review is focused on summarizing some of the recent advances for deciphering the underlying genetic architecture of autism and understanding how these findings might promote precision medicine in the future and various therapeutic interventions that are attempting to improve ASD care. This review is by no means an exhaustive compilation and is a mere attempt to highlight some of the promising findings in the recent literature on ASD and therapeutic interventions.