The changing landscape of factors required for diagnosis makes it difficult to quantify the actual increase in prevalence.Īccording to the current DSM-5 criteria, only two core features make up an autism spectrum disorder (ASD) diagnosis: (1) persistent deficits in social communication and social interaction across multiple contexts and (2) restricted, repetitive patterns of behavior, interests, or activities ( Lai et al., 2014). This significant increase in prevalence is partially attributable to both increase in awareness and evolvement of Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria, from a childhood form of schizophrenia in 1952, to a core diagnosis covering a spectrum of disorders in the present ( Zeldovich, 2018). Estimates have since increased drastically to 1 in 59 individuals affected, with at least three times as many males diagnosed as females ( Loomes et al., 2017). Twenty-three years later, the first epidemiological study of autism estimated prevalence to be 4.5 per 10,000 individuals. Intriguing common symptoms such as improper facilitation of language, indifference to other people, and obsessive interests can clearly be discerned while reading Kanner’s thorough patient history. Further understanding of these mechanisms is crucial for both comprehending ASD and for developing novel therapies.Īutism was first described by Kanner (1943) in a detailed report of 11 children with similar unusual tendencies. Lastly, we review sex-linked modifiers and clinical implications. We also consider how genetic modifiers can alter convergent signaling pathways and lead to impaired neural circuitry formation. In this review, we will describe the genetic landscape of ASD and discuss how genetic modifiers such as copy number variation, single nucleotide polymorphisms, and epigenetic alterations likely play a key role in modulating the phenotypic spectrum of ASD patients. However, these only account for 10–20% of ASD cases, and patients with similar pathogenic variants may be diagnosed on very different levels of the spectrum. In the past decade, hundreds of genes have been identified that contribute to the serious deficits in communication, social cognition, and behavior that patients often experience. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations.
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