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1.
Compr Psychiatry ; 133: 152506, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38833896

RESUMEN

BACKGROUND: Trichotillomania (TTM) and excoriation disorder (ED) are impairing obsessive-compulsive related disorders that are common in the general population and for which there are no clear first-line medications, highlighting the need to better understand the underlying biology of these disorders to inform treatments. Given the importance of genetics in obsessive-compulsive disorder (OCD), evaluating genetic factors underlying TTM and ED may advance knowledge about the pathophysiology of these body-focused repetitive behaviors. AIM: In this systematic review, we summarize the available evidence on the genetics of TTM and ED and highlight gaps in the field warranting further research. METHOD: We systematically searched Embase, PsycInfo, PubMed, Medline, Scopus, and Web of Science for original studies in genetic epidemiology (family or twin studies) and molecular genetics (candidate gene and genome-wide) published up to June 2023. RESULTS: Of the 3536 records identified, 109 studies were included in this review. These studies indicated that genetic factors play an important role in the development of TTM and ED, some of which may be shared across the OCD spectrum, but there are no known high-confidence specific genetic risk factors for either TTM or ED. CONCLUSIONS: Our review underscores the need for additional genome-wide research conducted on the genetics of TTM and ED, for instance, genome-wide association and whole-genome/whole-exome DNA sequencing studies. Recent advances in genomics have led to the discovery of risk genes in several psychiatric disorders, including related conditions such as OCD, but to date, TTM and ED have remained understudied.


Asunto(s)
Trastorno de Excoriación , Trastorno Obsesivo Compulsivo , Tricotilomanía , Humanos , Trastorno de Excoriación/genética , Estudio de Asociación del Genoma Completo , Trastorno Obsesivo Compulsivo/genética , Tricotilomanía/genética
2.
Compr Psychiatry ; 119: 152349, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36215772

RESUMEN

BACKGROUND AND AIMS: The existence of subtypes of trichotillomania (TTM) have long been hypothesized, and recent studies have further elucidated characteristic subtypes of TTM and possible ramifications of subtyping for treatment. In clinical applications of subtyping for treatment of TTM, family history (FH) of psychiatric disorders in patients may serve as a tool to differentiate disorder presentations and inform care. We compared prevalence of psychiatric illnesses in first-degree relatives of participants with TTM and healthy controls, respectively, in a large sample, and examined associations between those psychiatric disorders that were significantly different in the FH between groups and measures of disability, severity, and neuropsychological constructs. METHODS: We compared FHs of 152 participants (mean age = 29.9) with TTM and 71 healthy controls (mean age = 29.6), utilizing chi-squared tests to determine which psychiatric illnesses were more prevalent in FHs of participants with TTM. We then used two-tailed t-tests to compare TTM participants with those more prevalent FHs to participants without those FHs on measures of disorder severity, disability, and neuropsychological constructs. FINDINGS: Obsessive-compulsive disorder (OCD), TTM, skin picking disorder (SPD), and major depressive disorder (MDD) were significantly more frequent in first-degree relatives (p < 0.0033) of TTM participants than those of healthy controls. TTM participants with a FH of OCD scored significantly higher on measures of impulsivity and lower on measures of distress tolerance. Those with FH of TTM, SPD, and MDD did not differ significantly across measured variables. CONCLUSION: OCD, TTM, SPD, and MDD are more prevalent in the FHs of people with TTM, as compared to healthy controls. TTM participants with a family history of OCD may be more likely to demonstrate decreased distress tolerance and increased impulsivity. In all, as understanding of TTM subtypes develops, the FH may prove a useful tool in delineating subtypes and informing care.


Asunto(s)
Trastorno Depresivo Mayor , Trastorno Obsesivo Compulsivo , Tricotilomanía , Humanos , Adulto , Tricotilomanía/diagnóstico , Tricotilomanía/epidemiología , Tricotilomanía/genética , Trastorno Depresivo Mayor/diagnóstico , Trastorno Depresivo Mayor/epidemiología , Trastorno Depresivo Mayor/genética , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/epidemiología , Trastorno Obsesivo Compulsivo/genética , Prevalencia
3.
Compr Psychiatry ; 94: 152123, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31518848

RESUMEN

BACKGROUND: This study addresses the strength of associations between trichotillomania (TTM) and other DSM-IV Axis I conditions in a large sample (n = 2606) enriched for familial obsessive-compulsive disorder (OCD), to inform TTM classification. METHODS: We identified participants with TTM in the Johns Hopkins OCD Family Study (153 families) and the OCD Collaborative Genetics Study, a six-site genetic linkage study of OCD (487 families). We used logistic regression (with generalized estimating equations) to assess the strength of associations between TTM and other DSM-IV disorders. RESULTS: TTM had excess comorbidity with a number of conditions from different DSM-IV chapters, including tic disorders, alcohol dependence, mood disorders, anxiety disorders, impulse-control disorders, and bulimia nervosa. However, association strengths (odds ratios) were highest for kleptomania (6.6), pyromania (5.8), OCD (5.6), skin picking disorder (4.4), bulimia nervosa (3.5), and pathological nail biting (3.4). CONCLUSIONS: TTM is comorbid with a number of psychiatric conditions besides OCD, and it is strongly associated with other conditions involving impaired impulse control. Though DSM-5 includes TTM as an OCD-related disorder, its comorbidity pattern also emphasizes the impulsive, appetitive aspects of this condition that may be relevant to classification.


Asunto(s)
Trastornos Disruptivos, del Control de Impulso y de la Conducta/epidemiología , Trastorno Obsesivo Compulsivo/epidemiología , Tricotilomanía/epidemiología , Adulto , Comorbilidad , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Trastornos Disruptivos, del Control de Impulso y de la Conducta/genética , Femenino , Ligamiento Genético , Humanos , Masculino , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/genética , Tricotilomanía/genética , Adulto Joven
4.
Psychiatry Res ; 226(1): 273-6, 2015 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-25660732

RESUMEN

This study investigates the possible relationship between pathological gambling (PG) and potential spectrum disorders including the DSM-IV impulse control disorders (intermittent explosive disorder, kleptomania, pyromania, trichotillomania) and several non-DSM disorders (compulsive buying disorder, compulsive sexual behavior, Internet addiction). PG probands, controls, and their first-degree relatives were assessed with instruments of known reliability. Detailed family history information was collected on relatives who were deceased or unavailable. Best estimate diagnoses were assigned blind to family status. The results were analyzed using logistic regression by the method of generalized estimating equations. The sample included 95 probands with PG, 91 controls, and 1075 first-degree relatives (537 PG, 538 controls). Compulsive buying disorder and having "any spectrum disorder" were more frequent in the PG probands and their first-degree relatives vs. controls and their relatives. Spectrum disorders were significantly more prevalent among PG relatives compared to control relatives (adjusted OR=8.37), though much of this difference was attributable to the contribution from compulsive buying disorder. We conclude that compulsive buying disorder is likely part of familial PG spectrum.


Asunto(s)
Juego de Azar/genética , Juego de Azar/patología , Adulto , Conducta Adictiva , Estudios de Casos y Controles , Conducta Compulsiva/diagnóstico , Conducta Compulsiva/epidemiología , Conducta Compulsiva/genética , Trastorno de Personalidad Compulsiva , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Trastornos Disruptivos, del Control de Impulso y de la Conducta/diagnóstico , Trastornos Disruptivos, del Control de Impulso y de la Conducta/epidemiología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/genética , Piromanía/diagnóstico , Piromanía/epidemiología , Piromanía/genética , Juego de Azar/diagnóstico , Juego de Azar/epidemiología , Juego de Azar/psicología , Predisposición Genética a la Enfermedad , Humanos , Iowa , Modelos Logísticos , Masculino , Prevalencia , Escalas de Valoración Psiquiátrica , Reproducibilidad de los Resultados , Tricotilomanía/diagnóstico , Tricotilomanía/epidemiología , Tricotilomanía/genética
5.
Psychiatr Clin North Am ; 37(3): 319-35, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25150565

RESUMEN

Twin and family studies support a significant genetic contribution to obsessive-compulsive disorder (OCD) and related disorders, such as chronic tic disorders, trichotillomania, skin-picking disorder, body dysmorphic disorder, and hoarding disorder. Recently, population-based studies and novel laboratory-based methods have confirmed substantial heritability in OCD. Genome-wide association studies and candidate gene association studies have provided information on specific gene variations that may be involved in the pathobiology of OCD, though a substantial portion of the genetic risk architecture remains unknown.


Asunto(s)
Trastorno Dismórfico Corporal/genética , Trastorno Obsesivo Compulsivo/genética , Trastornos de Tic/genética , Síndrome de Tourette/genética , Tricotilomanía/genética , Animales , Enfermedad Crónica , Modelos Animales de Enfermedad , Enfermedades en Gemelos/genética , Salud de la Familia , Estudios de Asociación Genética/métodos , Humanos , Recurrencia
6.
Am J Med Genet B Neuropsychiatr Genet ; 165B(2): 167-74, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24415254

RESUMEN

Little is known about the etiology of hair pulling (HP) and its relationship to other obsessive compulsive (OC) spectrum disorders. In a large-sample family study, we examined the familial aggregation of HP and co-transmission of obsessive compulsive disorder (OCD) and skin picking (SP). Our sample consisted of 110 proband cases with HP and 48 controls without HP, plus 128 first-degree case relatives and 50 first-degree control relatives. Case versus control relatives had higher recurrence risk estimates for both HP and OCD but not SP. The finding that HP is familial is consistent with the only existing twin study. Additional analyses suggest that there may be a familial subtype of HP with comorbid OCD. Those adult proband cases with HP + OCD had more anxiety and depression than cases without OCD. Probands with HP + OCD also had earlier onset of OCD. Identification of an HP subtype with comorbid OCD may have significant theoretical and treatment implications. The data did not provide evidence for an etiologic relationship between HP and SP. Replication of these findings in future studies with larger cohorts of case and control relatives is warranted.


Asunto(s)
Trastorno Depresivo/genética , Predisposición Genética a la Enfermedad , Trastorno Obsesivo Compulsivo/complicaciones , Trastorno Obsesivo Compulsivo/genética , Tricotilomanía/etiología , Tricotilomanía/genética , Edad de Inicio , Enfermedad Crónica , Familia , Femenino , Humanos , Masculino , Medición de Riesgo , Tricotilomanía/complicaciones
7.
JAMA Psychiatry ; 71(2): 182-9, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24369376

RESUMEN

IMPORTANCE: The new DSM-5 "Obsessive-Compulsive and Related Disorders" chapter contains a series of conditions thought to be etiologically related to obsessive-compulsive disorder (OCD). However, the evidence to support this relatedness remains incomplete. OBJECTIVE: To estimate the degree to which genetic and environmental risk factors are shared and/or unique to dimensionally scored OCD, body dysmorphic disorder (BDD), hoarding disorder (HD), trichotillomania (hair-pulling disorder) (TTM), and excoriation (skin-picking) disorder (SPD). DESIGN, SETTING, AND PARTICIPANTS: Multivariate twin modeling methods involving 5409 female members of the TwinsUK adult population-based twin register. MAIN OUTCOMES AND MEASURES: Scores on the Obsessive-Compulsive Inventory-Revised, the Dysmorphic Concern Questionnaire, the Hoarding Rating Scale, the Massachusetts General Hospital Hairpulling Scale, and the Skin Picking Scale. RESULTS: A 2-latent factor common pathway model fitted the data best; the first latent factor loaded on all 5 phenotypes, particularly on OCD, BDD, and HD. A second factor loaded exclusively on TTM and SPD. Disorder-specific genetic (for OCD, BDD, and HD only) and particularly nonshared environmental risk factors were also evident. Shared environmental influences were negligible. CONCLUSIONS AND RELEVANCE: Obsessive-compulsive and related disorders may be influenced by 2 distinct liability factors rather than a single liability factor. One of these factors was common to all disorders, and another was exclusive to TTM and SPD. Disorder-specific genetic factors unique to OCD, BDD, and HD were also apparent, whereas TTM and SPD were largely influenced by the same latent genetic factor. Environmental influences were largely disorder specific. The results help explain the apparent similarities as well as some important differences between the disorders included in the new Obsessive-Compulsive and Related Disorders chapter.


Asunto(s)
Trastorno Dismórfico Corporal/etiología , Interacción Gen-Ambiente , Trastorno Obsesivo Compulsivo/etiología , Sistema de Registros , Conducta Autodestructiva/etiología , Tricotilomanía/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Trastorno Dismórfico Corporal/diagnóstico , Trastorno Dismórfico Corporal/genética , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Enfermedades en Gemelos/diagnóstico , Enfermedades en Gemelos/etiología , Enfermedades en Gemelos/genética , Análisis Factorial , Femenino , Trastorno de Acumulación/diagnóstico , Trastorno de Acumulación/etiología , Trastorno de Acumulación/genética , Humanos , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/genética , Análisis de Componente Principal , Factores de Riesgo , Conducta Autodestructiva/diagnóstico , Conducta Autodestructiva/genética , Tricotilomanía/diagnóstico , Tricotilomanía/genética , Reino Unido , Adulto Joven
8.
J Genet ; 91(2): 259-62, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22942103

RESUMEN

Trichotillomania (TTM), an obsessive-compulsive spectrum disorder (OCSD), is a psychiatric condition characterized by repetitive hair pulling. Evidence from family and twin studies suggest a heritable link of TTM. Functional polymorphisms in genes involved in neuronal pathways might influence the susceptibility to TTM. This review is an attempt to compile the genetic factors reported to modify the development of TTM.


Asunto(s)
Tricotilomanía/genética , Animales , Antidepresivos/farmacología , Antidepresivos/uso terapéutico , Estudios de Asociación Genética , Humanos , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Receptor de Serotonina 5-HT2A/genética , Receptores Dopaminérgicos/genética , Proteínas Asociadas a SAP90-PSD95 , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Inhibidores Selectivos de la Recaptación de Serotonina/farmacología , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéutico , Transducción de Señal/genética , Tricotilomanía/tratamiento farmacológico , Estudios en Gemelos como Asunto
9.
Psychiatry Res ; 199(3): 151-8, 2012 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-22537722

RESUMEN

Hair pulling disorder (trichotillomania) affects at least 3.7 million people in the United States and results in marked functional impairment. This article reviews empirical research investigating the genetics and neurobiology of hair pulling disorder (HPD). We also discuss recent advances in the characterization of this phenotype which have led to evidence supporting the existence of at least two disparate pulling styles-automatic and focused pulling. These pulling styles exhibit facets of behavioral processes, impulsivity and compulsivity, characteristic of several classes of disorders (e.g., obsessive-compulsive spectrum disorders, impulse control disorders). Available genetic, neurobiological, and clinical data support the importance of impulsivity for conceptualizing HPD. Impulsivity alone is insufficient to fully understand this complex phenotype. Characterizations of both automatic and focused pulling as well as preliminary findings from affective neuroscience across species highlight the importance of compulsivity for understanding HPD. Opposing and complementary aspects to impulsivity-compulsivity provide a more comprehensive conceptualization of HPD and supports HPD's potential importance for advancing scientific inquiry in relation to the pathogenesis and treatment of related phenotypes. This review concludes with a description of areas-phenotype, neurobiology, and genes-in need of further study.


Asunto(s)
Conducta Compulsiva/genética , Conducta Impulsiva/genética , Tricotilomanía/genética , Tricotilomanía/psicología , Conducta Compulsiva/fisiopatología , Conducta Compulsiva/psicología , Humanos , Conducta Impulsiva/fisiopatología , Conducta Impulsiva/psicología , Modelos Psicológicos , Tricotilomanía/fisiopatología
10.
Compr Psychiatry ; 52(2): 181-7, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21295225

RESUMEN

BACKGROUND: Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder characterized by repeated obsessions and compulsions. Trichotillomania (TTM), a psychiatric disorder characterized by repetitive hairpulling, is presently classified as an impulse control disorder, but has also been viewed as an obsessive-compulsive spectrum disorder. Both conditions are complex disorders, with evidence from family and twin studies indicating that their etiology includes a genetic component. Results from a recent knockout animal model suggest that SAP90/PSD95-associated protein 3 (SAPAP3) may be involved in the pathophysiology of both disorders. METHODS: Seven polymorphic variants distributed across the gene encoding SAPAP3 were genotyped in South African white OCD (n = 172), TTM (n = 45), and control (n = 153) subjects. Single-locus and haplotype analyses were conducted to determine association between genetic variants and subjects with OCD, TTM, and controls. RESULTS: Although single-locus analysis revealed a significant association between rs11583978 in SAPAP3 and TTM, this association was nonsignificant after correction for multiple testing. In the OCD group, a significant association was observed between earlier age at onset and the A-T-A-T (rs11583978-rs7541937-rs6662980-rs4652867) haplotype compared with the C-G-G-G haplotype. CONCLUSIONS: This study generated preliminary evidence to link SAPAP3 variants to the development of earlier onset OCD. Future studies should concentrate on locating the susceptibility variant(s) by focusing on functional polymorphisms within SAPAP3.


Asunto(s)
Proteínas del Tejido Nervioso/genética , Trastorno Obsesivo Compulsivo/genética , Tricotilomanía/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Niño , Femenino , Variación Genética , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/diagnóstico , Polimorfismo de Nucleótido Simple , Escalas de Valoración Psiquiátrica , Sudáfrica/etnología , Tricotilomanía/diagnóstico , Población Blanca/genética , Población Blanca/psicología
11.
Psychiatry Res ; 170(1): 32-42, 2009 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-19801170

RESUMEN

The question of whether Tourette's syndrome (TS) and trichotillomania (TTM) are best conceptualized as obsessive-compulsive spectrum disorders was raised by family studies demonstrating a close relationship between TS and obsessive-compulsive disorder (OCD), and by psychopharmacological research indicating that both TTM and OCD respond more robustly to clomipramine than to desipramine. A range of studies have subsequently allowed comparison of the phenomenology, psychobiology, and management of TS and TTM, with that of OCD. Here we briefly review this literature. The data indicate that there is significant psychobiological overlap between TS and OCD, supporting the idea that TS can be conceptualized as an OCD spectrum disorder. TTM and OCD have only partial overlap in their phenomenology and psychobiology, but there are a number of reasons for why it may be useful to classify TTM and other habit disorders as part of the obsessive-compulsive spectrum of disorders.


Asunto(s)
Trastorno Obsesivo Compulsivo/diagnóstico , Síndrome de Tourette/diagnóstico , Tricotilomanía/diagnóstico , Diagnóstico Diferencial , Progresión de la Enfermedad , Humanos , Trastorno Obsesivo Compulsivo/genética , Trastorno Obsesivo Compulsivo/terapia , Síndrome de Tourette/genética , Síndrome de Tourette/terapia , Tricotilomanía/genética , Tricotilomanía/terapia
12.
Am J Med Genet B Neuropsychiatr Genet ; 150B(7): 944-9, 2009 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-19199280

RESUMEN

Trichotillomania (TTM) is a disorder with putative genetic underpinnings. Family studies report higher than expected rates of TTM among relatives of affected individuals, but no twin concordance studies have been completed to estimate heritability rates. Same-sex twin pairs with hair pulling in at least one co-twin were included. Subjects were recruited following phone screens and questionnaire completion for zygosity and hair pulling variables. Three sets of criteria were used to define hair pulling and TTM. Two other sets of criteria were widened to include skin picking and bothersome hair manipulation. Fisher exact tests assessed pairwise concordance rates for monozygotic and dizygotic twin pairs and heritability estimates were calculated where significant differences existed. Among 34 identified twin pairs, 24 were monozygotic (MZ) and 10 were dizygotic (DZ). Respective concordance rates for MZ and DZ twin pairs were significantly different at 38.1% and 0% for DSM-IV TTM criteria, 39.1% and 0% using modified DSM criteria, and 58.3% and 20% for noticeable non-cosmetic hair pulling (heritability estimates 76.2%). MZ and DZ concordance rates were not significantly different when broadening hair pulling criteria to include skin picking or when including bothersome hair manipulation. Concordance rates from this study suggest that genetic factors play a significant role in the etiology of TTM. Given the reported discordance rates among the MZ twins, further research is required to fully understand contributory non-genetic factors.


Asunto(s)
Tricotilomanía/genética , Adulto , Femenino , Humanos , Patrón de Herencia/genética , Masculino , Encuestas y Cuestionarios , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética
15.
Isr J Psychiatry Relat Sci ; 43(2): 93-101, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16910371

RESUMEN

BACKGROUND: Trichotillomania (TTM), a prevalent and disabling psychiatric disorder characterized by repetitive hair-pulling, is presently classified as an impulse control disorder (ICD). Some have argued, however, that TTM is an obsessive-compulsive spectrum disorder (OCSD). There is some evidence that both disorders (OCD and TTM) are mediated by serotonergic (5-HT) and dopaminergic pathways. METHODS: The aim of the present investigation was to assess the role of candidate genes encoding components within the 5-HT and dopaminergic neurotransmitter pathways in mediating TTM. South African Caucasian TTM subjects (n=39), OCD (n=250) and control subjects (n=152) were genotyped for variants in 5-HT and dopaminergic candidate genes. RESULTS: Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C variant were found to be significantly different between the TTM and control subjects (p=0.028 and p=0.024, respectively), and a trend towards significance was noted between the TTM and OCD subjects (p=0.084 and p=0.080 for genotype and allele analyses, respectively), with the T102T-genotype found to confer susceptibility to the development of TTM. CONCLUSION: This investigation provides preliminary evidence for the involvement of 5-HT2A in the molecular aetiology of TTM and supports the need for further replication in a larger dataset. The present data are consistent with previous findings that 5-HT2A plays a role in mediating impulse dyscontrol.


Asunto(s)
Tricotilomanía/genética , Población Blanca/estadística & datos numéricos , Alelos , Proteínas de Unión al Calcio/genética , Estudios de Casos y Controles , Dopamina/metabolismo , Genotipo , Glicoproteínas/genética , Humanos , Vías Nerviosas/fisiología , Trastorno Obsesivo Compulsivo/metabolismo , Polimorfismo Genético/genética , Proteína de Unión al Calcio S100A4 , Serotonina/metabolismo , Sudáfrica/epidemiología , Tricotilomanía/metabolismo
16.
Compr Psychiatry ; 46(1): 14-9, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-15714189

RESUMEN

BACKGROUND: Comorbidity of certain obsessive-compulsive spectrum disorders (OCSDs; such as Tourette's disorder) in obsessive-compulsive disorder (OCD) may serve to define important OCD subtypes characterized by differing phenomenology and neurobiological mechanisms. Comorbidity of the putative OCSDs in OCD has, however, not often been systematically investigated. METHODS: The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition , Axis I Disorders-Patient Version as well as a Structured Clinical Interview for Putative OCSDs (SCID-OCSD) were administered to 210 adult patients with OCD (N = 210, 102 men and 108 women; mean age, 35.7 +/- 13.3). A subset of Caucasian subjects (with OCD, n = 171; control subjects, n = 168), including subjects from the genetically homogeneous Afrikaner population (with OCD, n = 77; control subjects, n = 144), was genotyped for polymorphisms in genes involved in monoamine function. Because the items of the SCID-OCSD are binary (present/absent), a cluster analysis (Ward's method) using the items of SCID-OCSD was conducted. The association of identified clusters with demographic variables (age, gender), clinical variables (age of onset, obsessive-compulsive symptom severity and dimensions, level of insight, temperament/character, treatment response), and monoaminergic genotypes was examined. RESULTS: Cluster analysis of the OCSDs in our sample of patients with OCD identified 3 separate clusters at a 1.1 linkage distance level. The 3 clusters were named as follows: (1) "reward deficiency" (including trichotillomania, Tourette's disorder, pathological gambling, and hypersexual disorder), (2) "impulsivity" (including compulsive shopping, kleptomania, eating disorders, self-injury, and intermittent explosive disorder), and (3) "somatic" (including body dysmorphic disorder and hypochondriasis). Several significant associations were found between cluster scores and other variables; for example, cluster I scores were associated with earlier age of onset of OCD and the presence of tics, cluster II scores were associated with female gender and childhood emotional abuse, and cluster III scores were associated with less insight and with somatic obsessions and compulsions. However, none of these clusters were associated with any particular genetic variant. CONCLUSION: Analysis of comorbid OCSDs in OCD suggested that these lie on a number of different dimensions. These dimensions are partially consistent with previous theoretical approaches taken toward classifying OCD spectrum disorders. The lack of genetic validation of these clusters in the present study may indicate the involvement of other, as yet untested, genes. Further genetic and cluster analyses of comorbid OCSDs in OCD may ultimately contribute to a better delineation of OCD endophenotypes.


Asunto(s)
Trastornos Disruptivos, del Control de Impulso y de la Conducta/epidemiología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/genética , Trastorno Obsesivo Compulsivo/epidemiología , Trastorno Obsesivo Compulsivo/genética , Síndrome de Tourette/epidemiología , Síndrome de Tourette/genética , Adolescente , Adulto , Anciano , Análisis por Conglomerados , Comorbilidad , Femenino , Juego de Azar , Genotipo , Humanos , Entrevista Psicológica , Masculino , Persona de Mediana Edad , Monoaminooxidasa/genética , Trastorno Obsesivo Compulsivo/diagnóstico , Polimorfismo Genético/genética , Conducta Autodestructiva/epidemiología , Conducta Autodestructiva/genética , Serotonina/genética , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Síndrome de Tourette/diagnóstico , Tricotilomanía/epidemiología , Tricotilomanía/genética
17.
Psychiatry Res ; 128(2): 175-82, 2004 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-15488960

RESUMEN

There is increasing evidence that obsessive-compulsive disorder (OCD) is mediated by genetic factors. Although the precise mechanism of inheritance is unclear, recent evidence has pointed towards the involvement of the serotonergic and dopaminergic systems in the disorder's development. Furthermore, early-onset OCD appears to be a subtype that exhibits distinct clinical features and that is associated with greater familial loading. In the present investigation, South African OCD patients (n=252) were stratified according to age of onset and were clinically assessed. Additionally, selected variants in genes encoding serotonergic and dopaminergic components were investigated in a Caucasian OCD subset (n=180). This subgroup was further stratified to evaluate the role that these candidate genes may play in the genetically homogeneous Afrikaner subset (n=80). Analysis of the clinical data revealed an association between early age of onset and an increased frequency of tics, Tourette's disorder, and trichotillomania (TTM). The genetic studies yielded statistically significant results when the allelic distributions of genetic variants in the dopamine receptor type 4 gene (DRD4) were analysed in the Caucasian OCD cohort. These data support a role for the dopaminergic system, which may be relevant to the development of early-onset OCD.


Asunto(s)
Genotipo , Trastorno Obsesivo Compulsivo/genética , Receptores Dopaminérgicos/genética , Receptores de Serotonina/genética , Adulto , Edad de Inicio , Alelos , Estudios de Cohortes , Comorbilidad , Frecuencia de los Genes/genética , Carga Genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Genética de Población , Humanos , Masculino , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/epidemiología , Fenotipo , Receptores de Dopamina D2/genética , Receptores de Dopamina D4 , Sudáfrica , Tics/diagnóstico , Tics/epidemiología , Tics/genética , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiología , Síndrome de Tourette/genética , Tricotilomanía/diagnóstico , Tricotilomanía/epidemiología , Tricotilomanía/genética
18.
Compr Psychiatry ; 45(5): 384-91, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-15332202

RESUMEN

A link between dissociation proneness in adulthood and self-reports of childhood traumatic events (including familial loss in childhood, sexual/physical abuse and neglect) has been documented. Several studies have also provided evidence for an association between dissociative experiences and trauma in patients with various psychiatric disorders, including post-traumatic stress disorder, borderline personality, dissociative identity and eating disorders. Based on the relative paucity of data on dissociation and trauma in obsessive-compulsive disorder (OCD) and trichotillomania (TTM), the primary objective of this study was to examine the relationship between trauma and dissociative experiences (DE) in these two diagnostic groups. Furthermore, the availability of clinical and genetic data on this sample allowed us to explore clinical and genetic factors relevant to this association. A total of 110 OCD and 32 TTM patients were compared with respect to the degree of dissociation (using the Dissociative Experiences Scale [DES]) and childhood trauma (using the Childhood Trauma Questionnaire [CTQ]). Patients were classified on the DES as either "high" (mean DES score >/= 30) or "low" (mean DES score < 30) dissociators. Additional clinical and genetic factors were also explored with chi-square and t tests as appropriate. A total of 15.8% of OCD patients and 18.8% of TTM patients were high dissociators. OCD and TTM groups were comparable on DES and CTQ total scores, and in both OCD and TTM groups, significant positive correlations were found between mean DES scores and mean CTQ subscores of emotional abuse, physical abuse, sexual abuse, and physical neglect. In the OCD group, high dissociators were significantly younger than low dissociators, and significantly more high dissociators than low dissociators reported a lifetime (current and past) history of tics (P <.001), Tourette's syndrome (P =.019), bulimia nervosa (P =.003), and borderline personality disorder (P =.027). In the TTM group, significantly more high dissociators than low dissociators reported (lifetime) kleptomania (P =.005) and depersonalisation disorder (P =.005). In the Caucasian OCD patients (n = 114), investigation of genetic polymorphisms involved in monoamine function revealed no significant differences between high and low dissociator groups. This study demonstrates a link between childhood trauma and DE in patients with OCD and TTM. High dissociative symptomatology may be present in a substantial proportion of patients diagnosed with these disorders. High dissociators may also be differentiated from low dissociators on some demographic features (e.g., lower age) and comorbidity profile (e.g., increased incidence of impulse dyscontrol disorders). Additional work is necessary before conclusions about the role of monoaminergic systems in mediating such dissociation can be drawn.


Asunto(s)
Trastornos Disociativos/epidemiología , Trastornos Disociativos/genética , Monoaminooxidasa/genética , Trastorno Obsesivo Compulsivo/epidemiología , Trastorno Obsesivo Compulsivo/genética , Tricotilomanía/epidemiología , Tricotilomanía/genética , Adulto , Trastornos Disociativos/diagnóstico , Femenino , Genotipo , Humanos , Masculino , Trastorno Obsesivo Compulsivo/diagnóstico , Polimorfismo Genético/genética , Prevalencia , Encuestas y Cuestionarios , Tricotilomanía/diagnóstico
19.
Comp Med ; 54(2): 216-24, 2004 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15134369

RESUMEN

Animal diseases that develop spontaneously in a limited subpopulation can provide powerful models of human disease because they provide a means to investigate the interaction of a broad range of biological and environmental etiologic processes. In contrast, with experimentally induced animal models, the etiology of the model is inherently fixed, and can only speak to a limited subset of those involved in the human disease. 'Barbering' (abnormal whisker- and fur-plucking behavior) in mice resembles human trichotillomania (compulsive hair plucking) in that barbering mice pluck focused areas of hair, and engage in post-plucking manipulatory and oral behaviors. We performed a cross-sectional epidemiologic survey of a population of 2,950 laboratory mice to further assess the face validity of barbering as a spontaneous model of trichotillomania. Patterns of hair loss and demographic and etiologic risk factors were recorded for each mouse, and were analyzed by use of logistic regression. Barbering paralleled trichotillomania in terms of phenomenology, demography, and etiology. Thus, similar to trichotillomania, barbers predominately plucked hair from the scalp and around the eyes and the genitals; barbering was female biased, and had its onset during puberty; and etiologic factors included reproductive status and genetic background. Therefore, barbering has excellent face validity as a model of trichotillomania, and may represent a refined and non-invasive model, especially for studies of the complex genetic/environmental etiologies of this disorder.


Asunto(s)
Animales de Laboratorio/psicología , Modelos Animales de Enfermedad , Tricotilomanía , Animales , Interpretación Estadística de Datos , Femenino , Cabello , Humanos , Masculino , Ratones , Pubertad , Factores de Riesgo , Tricotilomanía/epidemiología , Tricotilomanía/etiología , Tricotilomanía/genética
20.
J Neuropsychiatry Clin Neurosci ; 14(3): 340-2, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12154160

RESUMEN

SPECT scans of a set of twins with trichotillomania showed that the twin with more severe disease had larger perfusion defects, involving more areas on the scan. Prospective brain imaging studies of twins may provide useful information about the neurobiology of trichotillomania and other obsessive-compulsive spectrum disorders.


Asunto(s)
Tomografía Computarizada de Emisión de Fotón Único , Tricotilomanía/diagnóstico por imagen , Gemelos Monocigóticos , Adulto , Femenino , Humanos , Estudios Prospectivos , Lóbulo Temporal/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único/métodos , Tricotilomanía/genética , Gemelos Monocigóticos/genética
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