Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive–compulsive disorder: Results from the OCD Collaborative Genetics Study

Abstract

Some individuals with obsessive-compulsive disorder (OCD) have autistic-like traits, including deficits in social and communication behaviors (pragmatics). The objective of this study was to determine if pragmatic impairment aggregates in OCD families and discriminates a clinically and genetically distinct subtype of OCD. We conducted clinical examinations on, and collected DNA samples from, 706 individuals with OCD in 221 multiply affected OCD families. Using the Pragmatic Rating Scale (PRS), we compared the prevalence of pragmatic impairment in OCD-affected relatives of probands with and without pragmatic impairment. We also compared clinical features of OCD-affected individuals in families having at least one, versus no, individual with pragmatic impairment, and assessed for linkage to OCD in the two groups of families. The odds of pragmatic impairment were substantially greater in OCD-affected relatives of probands with pragmatic impairment. Individuals in high-PRS families had greater odds of separation anxiety disorder and social phobia, and a greater number of schizotypal personality traits. In high-PRS families, there was suggestive linkage to OCD on chromosome 12 at marker D12S1064 and on chromosome X at marker DXS7132 whereas, in low-PRS families, there was suggestive linkage to chromosome 3 at marker D3S2398. Pragmatic impairment aggregates in OCD families. Separation anxiety disorder, social phobia, and schizotypal personality traits are part of a clinical spectrum associated with pragmatic impairment in these families. Specific regions of chromosomes 12 and X are linked to OCD in high-PRS families. Thus, pragmatic impairment may distinguish a clinically and genetically homogeneous subtype of OCD.

Hoarding in children and adolescents with obsessive–compulsive disorder

“…In support of our findings, Mito et al (2014) found that, in 81 adult OCD outpatients, hoarding obsessions and compulsions were the only OC symptoms that were significantly more prevalent in those with high vs. low AQ total scores, and that scores on hoarding obsessions and compulsions were significantly correlated with several AQ subscales, including social skills and communication. Morevover, we recently reported a significant relationship between social and communication difficulties, using the Pragmatic Rating Scale (Landa et al, 1992), and hoarding behaviors in adults with OCD (Samuels et al, in press). …”

Schizotypal personality disorder in clinical obsessive–compulsive disorder samples: a brief overview

“…The most common comorbid diagnoses were major depressive disorder, 34,37 bipolar disorder, 34,60 posttraumatic stress disorder, 37 substance use disorder, 37 and specific 81 and social phobia. 101 Furthermore, the presence of SPD/SPTs was associated with more autistic traits, 25,29,38 poorer insight, 53,55,56,73,76 psychotic features or psychotic-like experiences, 40,56,101 learning disabilities, 81 reduced level of general functioning, 27,56 and greater general psychopathology. 37 Interestingly, OCD patients with comorbid SPD were found to be more clinically similar to SCZ patients rather than to OCD patients without SPD.…”

Social communication disorder: a narrative review on current insights

“…Accordingly, researchers have reported that children with attention-deficit hyperactivity disorder (ADHD), learning disorders (LDs), and even those with obsessive compulsive disorder (OCD) also have problems in social communication and pragmatics. 26 – 28 This position is contended by some of the researchers, however, who maintain that problems in social communication and pragmatics may not be specific to childhood psychopathologies and that comorbidity with disruptive behavior disorders and/or NVLD, age, and social experience all play important roles in determining the severity of those problems. 29 , 30 Recognizing the problems inherent in overinclusivity and lack of diagnostic validity, some authors proposed that pragmatic difficulties may be better conceptualized as a dimensional symptom displayed across a range of neurodevelopmental disorders.…”

“… 54 In probands with OCD and their relatives, elevated pragmatic rating scale scores were associated with Chr 12 and X, whereas those with lower scores were associated with Chr 3. 28 And in a preclinical study, Sungur et al reported that SHANK1-knockout mice vocalized less and that this communication deficit was more prominent in social contexts. 55 Those results, although limited, may lead to interesting avenues for the genetic etiology of SCD.…”