The Evolving Role and Nature of Gene Mutations in the Neuropathology of Autism Spectrum Disorders

Abstract

Recent research increasingly suggests that autism spectrum disorders (ASDs) can be caused by genetic factors. ASDs are one of the fastest growing neurodevelopmental disorders, encompassing a spectrum of disorders marked by difficulties with social interaction, communication (verbal and non-verbal), and unusual, repetitive behaviors. The etiology, or specific factors that cause a disorder, are is relatively uncertain for ASDs. Consequently, viable treatment options for ASDs have received greater attention among autism researchers – in particular, the neurological consequences of genetic mutations found in people with ASDs. In the past year, the literature has presented many novel treatments to address this promising neurobiological etiology of ASDs. The current trajectory of autism research, supported by a wealth of studies connecting genetic mutations in neural substrates to the core symptoms of ASDs, suggests a greater appreciation for and understanding of the genetic complexity that underlies ASDs. Additionally, results of ASD twin studies have encouraged consideration of environmental factors that may act as triggers for gene mutations associated with ASDs. Genetic and environmental factors are increasingly accepted as joint contributors to the etiology of ASDs, rather than isolated factors strictly regulated by nature or nurture, respectively. While there has been substantial progress on the geneticneurobiological front of ASD research in the past decade, there is a burgeoning avenue of geneticenvironmental ASD research. With impending changes to the definition of ASDs in the newest edition of the Diagnostic and Statistical Manual (5th edition) in May 2013, it is likely that these multifactorial etiologies of ASDs will receive even greater attention in the field.