DOI: 10.1097/HRP.0000000000000028

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PMID: 24614761

Issn Print: 1067-3229

Publication Date: 2014/03/01


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Introduction

Jean A. Frazier; Christopher J. McDougle

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Author Information: Jean.Frazier@umassmed.edu

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Excerpt

This special issue of the Harvard Review of Psychiatry focuses on Autism Spectrum Disorders (ASDs), a heterogeneous group of disorders characterized by impairment in social communication and language and by repetitive behaviors and restricted interests.1 The prevalence of ASDs has been rising over the years, with the most recent estimate from the CDC indicating that 1 out of 88 youth are affected.2 The disorder is highly heritable, yet the etiology in the vast majority of cases remains elusive. Autism is one of the most challenging disorders to treat, and the public health concerns associated with the disorder are numerous due to its burden on the individual, the family, and society. Therefore, a special issue focused on various aspects of etiology, clinical presentations, and evidence-based therapeutics could not be more timely or more needed. This issue contains thorough reviews by experts in the field on six topics that will inform clinical practice: the genetics of the disorder; evidenced-based psychopharmacologic interventions for maladaptive behaviors and psychiatric comorbidities; obesity in children with ASD; gastrointestinal (GI) comorbidities in ASD; sensory issues seen in these youth, along with available interventions; and issues in the transition from secondary school to college.
In their comprehensive, yet accessible, review of ASD genetics, Talkowski and colleagues3 describe the tremendous progress that has been made in this field in the last decade, but they also remind us that a lot of work remains to be done. They believe that the rising prevalence of ASD relates to both genetic and environmental factors. The lack of a quantitative diagnostic biomarker poses a significant challenge to determining the exact reasons for the increased prevalence. In addition, the authors suggest that hundreds of genes are capable of conferring varying degrees of risk for ASD, depending on their nature and the predisposing variation. While this situation is somewhat overwhelming in and of itself, many genes associated with ASD also confer shared risk for a wide range of neurodevelopmental abnormalities and psychopathology beyond ASD. Thus, a highly heterogeneous collection of genes can contribute to a similar clinical presentation, and at the same time, particular genetic lesions can be associated with widely variable clinical outcomes. As progress continues to be made along these lines, we may see the diagnostic process for ASD and other neuropsychiatric disorders move in the direction of increasing objectivity and away from schemas based on groupings of clinical phenomenology.4 Finally, the article helps the reader understand commonly used terms in the field of ASD genetics, such as whole-exome sequencing (WES), loss-of-function (LoF) mutations, copy-number variations (CNVs), and non-allelic homologous recombination (NAHR). It will be important for clinicians to begin to master this language and knowledge base as the discoveries being made today in our leading institutions’ laboratories begin to make their way into our day-to-day clinical practice. Within the next few years, we will likely be making more specific diagnoses in our patients, like 16p11.2 duplication disorder, rather than ASD.
The second article in this special issue, by Politte and colleagues,5 is a thoughtful review of the evidence for pharmacologic interventions for maladaptive behavior or psychiatric comorbidities in ASD. While psychotropics are routinely prescribed in clinical practice, limited rigorous research has been conducted on prescribing medications to target most areas of impairment in individuals on the spectrum. Many published clinical trials are limited due to small sample sizes and various methodologic issues. This article systematically discusses medications by class, outlining the benefits and side effects as well as highlighting the differences in response rates seen in youth versus adults.
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