title: 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.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Jack
authors.initials: J
authors.lastname: Samuels
authors.forename: Yin Yao
authors.initials: YY
authors.lastname: Shugart
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Marco A
authors.initials: MA
authors.lastname: Grados
authors.forename: O Joseph
authors.initials: OJ
authors.lastname: Bienvenu
authors.forename: Anthony
authors.initials: A
authors.lastname: Pinto
authors.forename: Scott L
authors.initials: SL
authors.lastname: Rauch
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Greenberg
authors.forename: James A
authors.initials: JA
authors.lastname: Knowles
authors.forename: Abby J
authors.initials: AJ
authors.lastname: Fyer
authors.forename: John
authors.initials: J
authors.lastname: Piacentini
authors.forename: David L
authors.initials: DL
authors.lastname: Pauls
authors.forename: Bernadette
authors.initials: B
authors.lastname: Cullen
authors.forename: Steven A
authors.initials: SA
authors.lastname: Rasmussen
authors.forename: S Evelyn
authors.initials: SE
authors.lastname: Stewart
authors.forename: Dan A
authors.initials: DA
authors.lastname: Geller
authors.forename: Brion S
authors.initials: BS
authors.lastname: Maher
authors.forename: Fernando S
authors.initials: FS
authors.lastname: Goes
authors.forename: Dennis L
authors.initials: DL
authors.lastname: Murphy
authors.forename: James T
authors.initials: JT
authors.lastname: McCracken
authors.forename: Mark A
authors.initials: MA
authors.lastname: Riddle
authors.forename: Gerald
authors.initials: G
authors.lastname: Nestadt
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003142:Communication; D003299:Cooperative Behavior; D003710:Demography; D005190:Family; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007398:Interpersonal Relations; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009771:Obsessive-Compulsive Disorder / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D055815:Young Adult
keywords: OCD; genetic linkage; obsessive-compulsive disorder; pragmatics