Heterogeneity in autism - challenges and opportunities.

Abstract

Autism spectrum disorder is a heterogeneous condition marked by social communication difficulties and restricted/repetitive behaviors. Although major progress has been made over the past two decades in understanding its genetics and molecular mechanisms, effective treatments remain limited. Report from the 2021 Lancet Commission on autism recommends that research should focus on improving quality of life through personalized assessment and intervention. Due to its heterogeneity, multiple treatment strategies will likely be needed. For some individuals, especially those with severe syndromic autism, gene therapy may offer future therapeutic options. To match patient subgroups to treatments, both "mutation clustering to treatment" forward approach and "treatment to disease subgroup" reverse approach can be used. Building a broad treatment portfolio will take time, but even incremental advances would be meaningful. Principles of neural plasticity, such as early intervention and repeated practice, may also enhance outcomes alone or alongside other therapies.