Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics

Abstract

Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive–compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive–compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual’s mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions.

Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments

“…Anxiety appears to be more common (Mattila et al, 2010;Simonoff et al, 2008); although current measures have difficulty capturing anxiety symptoms in the ASD population . Obsessive-compulsive symptoms are also frequent, but these are difficult to separate from the wide range of repetitive behaviors that can be seen in ASD (Jacob et al, 2009;Leyfer et al, 2006).…”

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

“…Although optimal methodological approaches to address these questions are still emerging, the ultimate goal of this framework is to refine classification and develop empirically derived approaches to treatment [9-11]. At the heart of this approach is the search for dysfunctional mechanistic processes shared by disorders with seemingly disparate phenotypic profiles, a strategy that represents a particular instantiation of the endophenotypic approach to identifying pathophysiological disease mechanisms [12-14].…”

Broadening accessibility through special interests

“…Individuals diagnosed with autism often have sensory disturbances, and they can be especially sensitive to visual, auditory, and haptic stimulation [3], [4]. People with ASD may also suffer from sleeping disturbances, motor impairments, anxiety disorders, obsessive-compulsive disorders, gastrointestinal symptoms, and a host of other comorbidities [5][6][7][8][9]. The precise pattern of impairments is unique for each individual, but generally speaking, individuals diagnosed with autism show the following three core diagnostic features: (a) communication impairments, (b) social difficulties, and (c) restricted interests and repetitive behaviors [10].…”