41 results on '"Pauls, David"'
Search Results
2. Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses
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Darrow, Sabrina M., Illmann, Cornelia, Gauvin, Caitlin, Osiecki, Lisa, Egan, Crystelle A., Greenberg, Erica, Eckfield, Monika, Hirschtritt, Matthew E., Pauls, David L., Batterson, James R., Berlin, Cheston M., Malaty, Irene A., Woods, Douglas W., Scharf, Jeremiah M., and Mathews, Carol A.
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- 2015
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3. A 16-Year Prospective Study of Prodromal Features Prior to BPI Onset in Well Amish Children
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Egeland, Janice A., Endicott, Jean, Hostetter, Abram M., Allen, Cleona R., Pauls, David L., and Shaw, Jon A.
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- 2012
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4. Autism
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Volkmar, Fred R. and Pauls, David
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- 2003
5. Self-reported executive function and hoarding in adults with obsessive-compulsive disorder.
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Samuels, Jack, Bienvenu, O. Joseph, Krasnow, Janice, Wang, Ying, Grados, Marco A., Cullen, Bernadette, Goes, Fernando S., Maher, Brion, Greenberg, Benjamin D., McLaughlin, Nicole C., Rasmussen, Steven A., Fyer, Abby J., Knowles, James A., McCracken, James T., Piacentini, John, Geller, Dan, Pauls, David L., Stewart, S. Evelyn, Murphy, Dennis L., and Shugart, Yin-Yao
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Background Hoarding behavior may distinguish a clinically and possibly etiologically distinct subtype of obsessive-compulsive disorder (OCD). Little is known about the relationship between executive dysfunction and hoarding in individuals with OCD. Methods The study sample included 431 adults diagnosed with DSM-IV OCD. Participants were assessed by clinicians for Axis I disorders, personality disorders, indecision, and hoarding. Executive functioning domains were evaluated using a self-report instrument, the Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A). We compared scores on these domains in the 143 hoarding and 288 non-hoarding participants, separately in men and women. We used logistic regression to evaluate relationships between executive function scores and hoarding, and correlation and linear regression analyses to evaluate relationships between executive function scores and hoarding severity, in women. Results In men, the hoarding group had a significantly higher mean score than the non-hoarding group only on the shift dimension. In contrast, in women, the hoarding group had higher mean scores on the shift scale and all metacognition dimensions, i.e., those that assess the ability to systematically solve problems via planning and organization. The relationships in women between hoarding and scores on initiating tasks, planning/organizing, organization of materials, and the metacognition index were independent of other clinical features. Furthermore, the severity of hoarding in women correlated most strongly with metacognition dimensions. Conclusions Self-reported deficits in planning and organization are associated with the occurrence and severity of hoarding in women, but not men, with OCD. This may have implications for elucidating the etiology of, and developing effective treatments for, hoarding in OCD. [ABSTRACT FROM AUTHOR]
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- 2018
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6. The impact of family functioning on pulling styles among adolescents with trichotillomania (hair pulling disorder).
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Murphy, Yolanda E., Flessner, Christopher A., Altenburger, Erin M., Pauls, David L., and Keuthen, Nancy J.
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Despite aversive impact amongst youths, trichotillomania (hair pulling disorder, HPD) literature demonstrates a lack of research in several critical domains including adolescent HPD, HPD pulling styles (i.e. focused and automatic pulling) and family functioning. The present study sought to address these limitations through the examination of (1) family functioning within the context of adolescent HPD, (2) family functioning in relation to adolescent pulling styles, and (3) characteristics of an HPD adolescent sample relative to pulling styles. In total, fifty-seven adolescent-parent dyads (41 adolescents with HPD and 16 matched controls) from a larger investigation were included. Participants completed an assessment battery including diagnostic interviews and self-report measures pertaining to comorbidity, pulling styles and family functioning. Regression analyses indicated that diagnostic status (i.e. HPD adolescent or control) failed to predict family functioning. Family functioning also failed to predict the degree to which adolescents reported engaging in focused or automatic pulling. Examination of sample characteristics indicated both focused and automatic pulling styles to some extent, with a large portion of individuals (compared to prior research) demonstrating solely focused pulling behavior. Implications for these findings, as well as limitations and avenues for further research are discussed. [ABSTRACT FROM AUTHOR]
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- 2017
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7. An investigation of doubt in obsessive–compulsive disorder.
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Samuels, Jack, Bienvenu, O. Joseph, Krasnow, Janice, Wang, Ying, Grados, Marco A., Cullen, Bernadette, Goes, Fernando S., Maher, Brion, Greenberg, Benjamin D., McLaughlin, Nicole C., Rasmussen, Steven A., Fyer, Abby J., Knowles, James A., Nestadt, Paul, McCracken, James T., Piacentini, John, Geller, Dan, Pauls, David L., Stewart, S. Evelyn, and Murphy, Dennis L.
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Background Clinicians have long considered doubt to be a fundamental characteristic of obsessive–compulsive disorder (OCD). However, the clinical relevance of doubt in OCD has not been addressed. Methods Participants included 1182 adults with OCD who had participated in family and genetic studies of OCD. We used a clinical measure of the severity of doubt, categorized as none, mild, moderate, severe, or extreme. We evaluated the relationship between doubt and OCD clinical features, Axis I disorders, personality and personality disorder dimensions, impairment, and treatment response. Results The severity of doubt was inversely related to the age at onset of OCD symptoms. Doubt was strongly related to the number of checking symptoms and, to a lesser extent, to the numbers of contamination/cleaning and hoarding symptoms. Doubt also was related to the lifetime prevalence of recurrent major depression and generalized anxiety disorder; to the numbers of avoidant, dependent, and obsessive–compulsive personality disorder traits; and to neuroticism and introversion. Moreover, doubt was strongly associated with global impairment and poor response to cognitive behavioral treatment (CBT), even adjusting for OCD severity and other correlates of doubt. Conclusions Doubt is associated with important clinical features of OCD, including impairment and cognitive–behavioral treatment response. [ABSTRACT FROM AUTHOR]
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- 2017
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8. Parental bonding and hoarding in obsessive–compulsive disorder.
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Chen, David, Bienvenu, O. Joseph, Krasnow, Janice, Wang, Ying, Grados, Marco A., Cullen, Bernadette, Goes, Fernando S., Maher, Brion, Greenberg, Benjamin D., McLaughlin, Nicole C., Rasmussen, Steven A., Fyer, Abby J., Knowles, James A., McCracken, James T., Piacentini, John, Geller, Dan, Pauls, David L., Stewart, S. Evelyn, Murphy, Dennis L., and Shugart, Yin-Yao
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Background Hoarding behavior may indicate a clinically and possibly etiologically distinct subtype of obsessive–compulsive disorder (OCD). Empirical evidence supports a relationship between hoarding and emotional over-attachment to objects. However, little is known about the relationship between hoarding and parental attachment in OCD. Method The study sample included 894 adults diagnosed with DSM-IV OCD who had participated in family and genetic studies of OCD. Participants were assessed for Axis I disorders, personality disorders, and general personality dimensions. The Parental Bonding Instrument (PBI) was used to assess dimensions of perceived parental rearing (care, overprotection, and control). We compared parental PBI scores in the 334 hoarding and 560 non-hoarding participants, separately in men and women. We used logistic regression to evaluate the relationship between parenting scores and hoarding in women, adjusting for other clinical features associated with hoarding. Results In men, there were no significant differences between hoarding and non-hoarding groups in maternal or paternal parenting scores. In women, the hoarding group had a lower mean score on maternal care (23.4 vs. 25.7, p < 0.01); a higher mean score on maternal protection (9.4 vs. 7.7, p < 0.001); and a higher mean score on maternal control (7.0 vs. 6.2, p < 0.05), compared to the non-hoarding group. The magnitude of the relationships between maternal bonding dimensions and hoarding in women did not change after adjustment for other clinical features. Women who reported low maternal care/high maternal protection had significantly greater odds of hoarding compared to women with high maternal care/low maternal protection (OR = 2.54, 95% CI = 1.60–4.02, p < 0.001). Conclusions Perceived poor maternal care, maternal overprotection, and maternal overcontrol are associated with hoarding in women with OCD. Parenting dimensions are not related to hoarding in men. These findings provide further support for a hoarding subtype of OCD and for sex-specific differences in etiologic pathways for hoarding in OCD. [ABSTRACT FROM AUTHOR]
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- 2017
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9. Cross-cultural differences in the Parent Rated Social Responsiveness Scale (SRS)? Evaluation of the Finnish version among high-functioning school aged males with and without autism spectrum disorder.
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Jussila, Katja, Kuusikko-Gauffin, Sanna, Mattila, Marja-Leena, Loukusa, Soile, Pollock-Wurman, Rachel, Joskitt, Leena, Ebeling, Hanna, Moilanen, Irma, Pauls, David, and Hurtig, Tuula
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When importing screening questionnaires of ASD, it has been found that parental interpretation/reporting of autistic traits may be culturally influenced. In the current study, our aim was preliminary evaluation of the Finnish parent rated SRS in order to determine whether the measure would show promise as an aid in screening. The study sample consisted of high-functioning school aged male ASD outpatients of Oulu University Hospital ( n = 44, age 11.4 ± 2.3) and age-matched controls ( n = 44, age 11.8 ± 2.4 years). Internal consistency as well as convergent and discriminative validity was in line with previous research. However, the results indicated that the cut-off published in the SRS manual might be too high to be used in Finland. Our results emphasize the importance of determining the normative range and clinical cut-offs in various cultures when importing diagnostic screening questionnaires in order to avoid getting high percentages of false negatives in the screening phase, and thus risk leaving many children without adequate diagnostic evaluation and rehabilitation. [ABSTRACT FROM AUTHOR]
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- 2015
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10. The inheritance of Tourette Disorder: A review.
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Pauls, David L., Fernandez, Thomas V., Mathews, Carol A., State, Matthew W., and Scharf, Jeremiah M.
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Georges Gilles de la Tourette, in describing the syndrome that now bears his name, observed that the condition aggregated within families. Over the last three decades, numerous studies have confirmed this observation, and demonstrated that familial clustering is in part due to genetic factors. Recent studies are beginning to provide clues about the underlying genetic mechanisms important for the manifestation of some cases of Tourette Disorder (TD). Evidence has come from different study designs, such as nuclear families, twins, multigenerational families, and case-control samples, together examining the broad spectrum of genetic variation including cytogenetic abnormalities, copy number variants, genome-wide association of common variants, and sequencing studies targeting rare and/or de novo variation. Each of these classes of genetic variation holds promise for identifying the causative genes and biological pathways contributing to this paradigmatic neuropsychiatric disorder. [ABSTRACT FROM AUTHOR]
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- 2014
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11. Hoarding in children and adolescents with obsessive–compulsive disorder.
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Samuels, Jack, Grados, Marco A., Riddle, Mark A., Bienvenu, O. Joseph, Goes, Fernando S., Cullen, Bernadette, Wang, Ying, Greenberg, Benjamin D., Fyer, Abby J., McCracken, James T., Geller, Dan, Murphy, Dennis L., Knowles, James A., Rasmussen, Steven A., McLaughlin, Nicole C., Piacentini, John, Pauls, David L., Stewart, S. Evelyn, Shugart, Yin-Yao, and Maher, Brion
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Compared to studies in adults, there have been few studies of hoarding in children and adolescents with obsessive–compulsive disorder (OCD). In the current study, we evaluated OCD clinical features, Axis I disorders, and social reciprocity scores in 641 children and adolescents with OCD, of whom 163 (25%) had hoarding compulsions and 478 did not. We found that, as a group, youth with hoarding had an earlier age at onset and more severe lifetime OCD symptoms, poorer insight, more difficulty making decisions and completing tasks, and more overall impairment. The hoarding group also had a greater lifetime prevalence of panic disorder, specific phobia, Tourette disorder, and tics. As measured with the Social Reciprocity Scale, the hoarding group had more severe deficits in parent-rated domains of social communication, social motivation, and restricted interests and repetitive behavior. In a multivariable model, the overall social reciprocity score, age at onset of OCD symptoms, symmetry obsessions, and indecision were independently related to hoarding in these children and adolescents with OCD. These features should be considered as candidate risk factors for the development of hoarding behavior in pediatric OCD. [ABSTRACT FROM AUTHOR]
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- 2014
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12. Family environment in adolescent trichotillomania.
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Keuthen, Nancy J., Fama, Jeanne, Altenburger, Erin M., Allen, Amanda, Raff, Anna, and Pauls, David
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Abstract: We examined family environment variables and parenting stress in a cohort of adolescents with trichotillomania (TTM; N=49), their parents (N=55) and matched control adolescents (N=23) and their parents (N=23). TTM youth vs. controls endorsed significantly more expression of anger, aggression and conflict in their families and less family support on the Family Relationship Index (FRI) of the Family Environment Scale (FES). Pulling distress but not severity was correlated with these variables. Greater pulling severity, distress or both were correlated with impairment on the cohesion subscale of the FES and the task accomplishment and affective expression subscales of the Family Assessment Measure (FAM). Mothers of TTM youth vs. controls endorsed more anxiety, depression and anger, plus more total parenting stress and problems in their offspring on the Stress Index for Parents of Adolescents (SIPA). On the FES, mothers of TTM youth vs. controls reported less emphasis on intellectual and cultural orientation and less organization in the family. TTM youth and their mothers were discordant in their ratings of several family environment variables. These findings warrant further study and merit attention when designing treatment interventions for adolescents with TTM. [Copyright &y& Elsevier]
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- 2013
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13. Obsessive-Compulsive Spectrum Disorders and Rheumatic Fever: A Family Study
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Hounie, Ana Gabriela, Pauls, David L., do Rosario-Campos, Maria Conceição, Mercadante, Marcos Tomanik, Diniz, Juliana Belo, De Mathis, Maria Alice, De Mathis, Maria Eugênia, Chacon, Priscila, Shavitt, Roseli Gedanke, Curi, Mariana, Guilherme, Luiza, and Miguel, Eurípedes Constantino
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OBSESSIVE-compulsive disorder , *RHEUMATIC fever , *LOGISTIC regression analysis , *NEUROIMMUNOLOGY , *NEUROSES - Abstract
Background: Obsessive-compulsive spectrum disorders (OCSDs) are more frequent in patients with active or prior rheumatic fever (RF), suggesting that OCSD and RF may share underlying etiologic mechanisms. Our objective was to estimate the frequency of OCSD in first-degree relatives (FDRs) of RF patients and controls to determine whether there is a familial relationship between OCSD and RF. Methods: This is a case-control family study. Of the 98 probands included in this study, 31 had RF without Sydenham’s chorea (SC) and had 131 relatives, 28 had RF with SC and had 120 relatives, and 39 were controls without RF. All probands, 87.9% of the RF FDRs and 93.7% of the control FDRs were assessed directly with structured psychiatric interviews and best-estimate diagnoses were assigned. Odds ratios of morbid risks were estimated using logistic regression by the generalized estimating equations (GEE) method and compared between groups. Results: The rate of OCSDs was significantly higher among FDRs of RF probands than among FDRs of controls (n=37; 14.7% vs. n=10; 7.3%, i=.0279). A diagnosis of OCSDs in an RF proband was associated with a higher rate of OCSDs among FDRs when compared to control FDRs (p-GEE=.02). There was a trend for a higher rate of OCSDs among FDRs of RF probands presenting no OCSD, although the difference was not significant (p-GEE=.09). Conclusion: The results are consistent with the hypothesis that a familial relationship exists between OCSD and RF, since an OCSD in the RF proband was found to increase the risk of OCSDs among FDRs. Additional neuroimmunological and genetic studies involving larger samples are needed to further elucidate this apparent familial relationship between RF and OCSD. [Copyright &y& Elsevier]
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- 2007
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14. The role of clinical phenotypes in understanding the genetics of obsessive–compulsive disorder
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Eapen, Valsamma, Pauls, David L., and Robertson, Mary May
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OBSESSIVE-compulsive disorder , *MENTAL illness , *GENETICS , *NEUROSES - Abstract
Abstract: Studies have shown that genetic factors are significant in predisposing individuals to obsessive–compulsive disorder (OCD). Family studies have demonstrated significantly higher rates of OCD in parents and siblings of OCD probands with an age-corrected morbid risk ranging from approximately 10% to 35% in first-degree relatives. Twin studies suggest that this familiality is, in part, due to genetic factors, and results from complex segregation analyses imply the existence of genes that have major effects on the transmission of OCD. However, not all cases of OCD seem to be familial. Furthermore, it appears that even in the familial form, there are clinical and genetic heterogeneities. Thus, future studies should either adjust the prevalence rates used in genetic analyses to account for nonfamilial cases or perform separate analyses of those families with a demonstrably familial form of OCD. Furthermore, in complex psychiatric disorders such as OCD, a single genetic locus may influence only a small part of phenotypic variance, and other genetic and environmental factors may interact in determining clinical phenotype. The implications of this finding on clinical and genetic heterogeneity in OCD are discussed. [Copyright &y& Elsevier]
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- 2006
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15. An update on the genetics of Gilles de la Tourette syndrome
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Pauls, David L.
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TOURETTE syndrome , *GENETICS , *COMPARATIVE studies , *GENEALOGY , *GENETIC techniques , *RESEARCH methodology , *MEDICAL cooperation , *RESEARCH , *EVALUATION research - Abstract
Objectives: To summarize the current data suggesting that Gilles de la Tourette syndrome (GTS) is inherited and genetic.Methods: The extant literature on family studies, segregation analyses, candidate genes studies and linkage studies of GTS was reviewed and summarized.Results and Conclusions: There is considerable data that suggests that: (1). genetic factors play an important role in the manifestation of GTS; (2). several genes are important with some possibly having major effect; and (3). several regions of the genome have been identified as potential locations of these susceptibility genes. [ABSTRACT FROM AUTHOR]- Published
- 2003
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16. Genetic mechanisms in childhood psychiatric disorders.
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Lombroso, Paul J. and Pauls, David L.
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CHILD psychopathology , *GENETICS - Abstract
Summarizes research findings on the genetics of several childhood psychiatric disorders. Review of papers on the role of genetic factors in the etiology of childhood mental disorders; Review and criticism of classical approaches to genetic research; Molecular basis for several development disorders; Role of genetic factors in developmental disorders.
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- 1994
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17. Tourette's syndrome: What are the influences of gender and comorbid...
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Santangelo, Susan L. and Pauls, David L.
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TOURETTE syndrome , *OBSESSIVE-compulsive disorder ,SEX differences (Biology) - Abstract
Explores the influence of gender and comorbid obsessive-compulsive disorder (OCD) on the phenomenology of Tourette's syndrome. Clinical characteristics by gender, age and OCD status; Perinatal complications; Study limitations.
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- 1994
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18. A prospective longitudinal study of Gilles de la Tourette's syndrome.
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Carter, Alice S. and Pauls, David L.
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TOURETTE syndrome in children - Abstract
Estimates the frequency of Gilles de la Tourette's syndrome (TS), tics and behavioral disorders among children at risk for TS. Examination of association of family functioning with children's diagnostic status and social-emotional functioning; Characteristics of TS.
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- 1994
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19. Familial relationship between Gilles de la Tourette's syndrome, attention deficit disorder (ADD),...
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Pauls, David L. and Leckman, James
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TOURETTE syndrome in children , *ATTENTION-deficit hyperactivity disorder - Abstract
Examines the familial relationship between Gilles de la Tourette's syndrome (GTS) and attention deficit disorder (ADD), learning problems, speech disorders and stuttering. Assessment of subjects using structured interviews, and family history information; Assignment of best-estimate diagnoses; Genetically variant expressions; Types of individuals with GTS and ADD.
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- 1993
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20. The Genetics of Attention-Deficit/Hyperactivity Disorder
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Pauls, David L.
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- 2005
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21. Genetics of childhood disorders: IV. Linkage analysis.
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Pauls, David and Pauls, D
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GENETIC disorders in children , *LINKAGE (Genetics) - Abstract
Part IV. Provides a brief overview of linkage methodology to discuss some possible reasons why most initial linkage studies of complex disorders have not been successful. Mendel's law of independent assortment; Family pedigree approach; Alternative hypotheses of linkage; Limitations of parametric approach.
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- 1999
22. ADHD and executive functioning deficits in OCD youths who hoard.
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Park, Jennifer M., Samuels, Jack F., Grados, Marco A., Riddle, Mark A., Bienvenu, O. Joseph, Goes, Fernando S., Cullen, Bernadette, Wang, Ying, Krasnow, Janice, Murphy, Dennis L., Rasmussen, Steven A., McLaughlin, Nicole C., Piacentini, John, Pauls, David L., Stewart, S. Evelyn, Shugart, Yin-Yao, Maher, Brion, Pulver, Ann E., Knowles, James A., and Greenberg, Benjamin D.
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ATTENTION-deficit hyperactivity disorder , *OBSESSIVE-compulsive disorder , *MENTAL health of youth , *COMPULSIVE hoarding , *AGE of onset - Abstract
Hoarding is common among youth with obsessive compulsive disorder (OCD), with up to 26% of OCD youth exhibiting hoarding symptoms. Recent evidence from adult hoarding and OCD cohorts suggests that hoarding symptoms are associated with executive functioning deficits similar to those observed in subjects with attention deficit hyperactivity disorder (ADHD). However, while hoarding behavior often onsets during childhood, there is little information about executive function deficits and ADHD in affected children and adolescents. The study sample included 431 youths (ages 6–17 years) diagnosed with OCD who participated in the OCD Collaborative Genetics Study and the OCD Collaborative Genetics Association Study and completed a series of clinician-administered and parent report assessments, including diagnostic interviews and measures of executive functioning (Behavior Rating Inventory of Executive Functioning; BRIEF) and hoarding severity (Hoarding Rating Scale-Interview; HRS-I). 113 youths (26%) had clinically significant levels of hoarding compulsions. Youths with and without hoarding differed significantly on most executive functioning subdomains and composite indices as measured by the parent-rated BRIEF. Groups did not differ in the frequency of full DSM-IV ADHD diagnoses; however, the hoarding group had significantly greater number of inattention and hyperactivity symptoms compared to the non-hoarding group. In multivariate models, we found that overall BRIEF scores were related to hoarding severity, adjusting for age, gender and ADHD symptoms. These findings suggest an association between hoarding and executive functioning deficits in youths with OCD, and assessing executive functioning may be important for investigating the etiology and treatment of children and adolescents with hoarding and OCD. [ABSTRACT FROM AUTHOR]
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- 2016
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23. The validity of DSM-IV-TR criteria B and C of hair-pulling disorder (trichotillomania): Evidence from a clinical study
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Lochner, Christine, Stein, Dan J., Woods, Douglas, Pauls, David L., Franklin, Martin E., Loerke, Elizabeth H., and Keuthen, Nancy J.
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COMPULSIVE hair pulling , *PSYCHOLOGICAL stress , *DELAY of gratification , *COMORBIDITY , *DIAGNOSIS , *RELIEF (Psychology) - Abstract
Abstract: In both DSM-IV-TR and the ICD-10, hair-pulling disorder (trichotillomania, or TTM) is described as hair-pulling, with a rising urge or tension prior to pulling or when attempting to resist, and pleasure, relief or gratification during or after pulling. However, it has been questioned whether all patients with hair-pulling experience these other phenomena, and whether they occur with all pulling episodes. The objective of this study was to examine the DSM-IV-TR requirement of criteria B and C for a diagnosis of TTM in a sample of people with hair-pulling. A multi-site sample of adults with hair-pulling who met both DSM-IV-TR diagnostic criteria B and C (n =82, 89.13%) were compared to those who failed to satisfy both B and C (n =10, 10.87%) on a number of clinical variables. There were no differences in hair-pulling severity, levels of comorbid depressive and anxiety symptoms, number of comorbid body-focused repetitive behaviors, or impairment between those patients who did and did not meet criteria B and C. Our study does not provide convincing support for the inclusion of the current diagnostic criteria B and C for TTM in DSM-5. [Copyright &y& Elsevier]
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- 2011
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24. Cognitive Inflexibilily and Frontal-Cortical Activation in Pediatric Obsessive- Compulsive Disorder.
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Britton, Jennifer C., Rouch, Scott L., Rosso, Isabelle M., Killgore, William D. S., Price, Lauren M., Ragan, Jennifer, Chosak, Anne, Hezel, Dianne M., Pine, Daniel S., Leibenluft, Ellen, Pauls, David L., Jenike, Michael A., and Stewart, S. Evelyn
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COGNITION disorders , *OBSESSIVE-compulsive disorder in children , *RESPONSE inhibition , *MAGNETIC resonance imaging , *CHILD psychiatry - Abstract
The article discusses a study on deficits in cognitive flexibility and frontal-cortical activation in obsessive-compulsive disoder (OCD) in children. It states that cognitive flexibility and response inhibition are linked to perturbations in cortico-striatal-thalamic circuitry. The study uses a functional magnetic resonance imaging (fMRI) in subjects aged 10-17 years under OCD and healthy comparison groups. The study reveals that those in the OCD group are slower to respond than the HC group.
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- 2010
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25. The genetics of Tourette syndrome: A review
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O'Rourke, Julia A., Scharf, Jeremiah M., Yu, Dongmei, and Pauls, David L.
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TOURETTE syndrome , *MEDICAL literature , *ETIOLOGY of diseases , *ATTENTION-deficit hyperactivity disorder , *OBSESSIVE-compulsive disorder , *GENOMES , *GENETICS - Abstract
Abstract: Objectives: This article summarizes and evaluates recent advances in the genetics of Gilles de la Tourette syndrome (GTS). Methods: This is a review of recent literature focusing on (1) the genetic etiology of GTS; (2) common genetic components of GTS, attention deficit hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD); (3) recent linkage studies of GTS; (4) chromosomal translocations in GTS; and (5) candidate gene studies. Results: Family, twin, and segregation studies provide strong evidence for the genetic nature of GTS. GTS is a heterogeneous disorder with complex inheritance patterns and phenotypic manifestations. Family studies of GTS and OCD indicate that an early-onset form of OCD is likely to share common genetic factors with GTS. While there apparently is an etiological relationship between GTS and ADHD, it appears that the common form of ADHD does not share genetic factors with GTS. The largest genome wide linkage study to date observed evidence for linkage on chromosome 2p23.2 (P=3.8×10−5). No causative candidate genes have been identified, and recent studies suggest that the newly identified candidate gene SLITRK1 is not a significant risk gene for the majority of individuals with GTS. Conclusion: The genetics of GTS are complex and not well understood. The Genome Wide Association Study (GWAS) design can hopefully overcome the limitations of linkage and candidate gene studies. However, large-scale collaborations are needed to provide enough power to utilize the GWAS design for discovery of causative mutations. Knowledge of susceptibility mutations and biological pathways involved should eventually lead to new treatment paradigms for GTS. [Copyright &y& Elsevier]
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- 2009
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26. TNF-alpha polymorphisms are associated with obsessive-compulsive disorder
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Hounie, Ana Gabriela, Cappi, Carolina, Cordeiro, Quirino, Sampaio, Aline Santos, Moraes, Ivanil, Rosário, Maria Conceição do, Palácios, Selma A., Goldberg, Anna Carla, Vallada, Homero Pinto, Machado-Lima, Ariane, Nakano, Eduardo, Kalil, Jorge, Pauls, David, Pereira, Carlos Alberto B., Guilherme, Luiza, and Miguel, Eurípedes Constantino
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GENETIC polymorphisms , *OBSESSIVE-compulsive disorder , *MOLECULAR genetics , *CYTOKINES - Abstract
Abstract: Introduction: Several lines of evidence support an immunologic involvement in obsessive-compulsive disorder (OCD): the increased prevalence of OCD in patients with rheumatic fever (RF), and the aggregation of obsessive-compulsive spectrum disorders among relatives of RF probands. Tumor necrosis factor alpha is a proinflammatory cytokine involved in RF and other autoimmune diseases. Polymorphisms in the promoter region of the TNFA gene have been associated with RF. Given the association between OCD and RF, the goal of the present study was to investigate a possible association between polymorphisms within the promoter region of TNFA and OCD. Materials and methods: Two polymorphisms were investigated: −308 G/A and −238 G/A. The allelic and genotypic frequencies of these polymorphisms were examined in 111 patients who fulfilled DSM-IV criteria for OCD and compared with the frequencies in 250 controls. Results: Significant associations were observed between both polymorphisms and OCD. For −238 G/A, an association between the A allele and OCD was observed (χ 2 =12.05, p =0.0005). A significant association was also observed between the A allele of the −308 G/A polymorphism and OCD (χ 2 =7.09, p =0.007). Finally, a haplotype consisting of genotypes of these two markers was also examined. Significant association was observed for the A–A haplotype (p =0.0099 after correcting for multiple testing). Discussion: There is association between the −308 G/A and −238 G/A TNFA polymorphisms and OCD in our Brazilian sample. However, these results need to be replicated in larger samples collected from different populations. [Copyright &y& Elsevier]
- Published
- 2008
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27. Sex-specific clinical correlates of hoarding in obsessive-compulsive disorder
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Samuels, Jack F., Bienvenu, O. Joseph, Pinto, Anthony, Murphy, Dennis L., Piacentini, John, Rauch, Scott L., Fyer, Abby J., Grados, Marco A., Greenberg, Benjamin D., Knowles, James A., McCracken, James T., Cullen, Bernadette, Riddle, Mark A., Rasmussen, Steven A., Pauls, David L., Liang, Kung-Yee, Hoehn-Saric, Rudolf, Pulver, Ann E., and Nestadt, Gerald
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OBSESSIVE-compulsive disorder , *COMPULSIVE hoarding , *PERSONALITY disorders , *HUMAN behavior , *ANXIETY disorders ,SEX differences (Biology) - Abstract
Abstract: Little is known about whether the clinical correlates of hoarding behavior are different in men and women with obsessive-compulsive disorder (OCD). In the current study, we evaluated the association of hoarding with categories of obsessions and compulsions, psychiatric disorders, personality dimensions, and other clinical characteristics separately in 151 men and 358 women with OCD who were examined during the OCD Collaborative Genetics Study. We found that, among men but not women, hoarding was associated with aggressive, sexual, and religious obsessions and checking compulsions. In men, hoarding was associated with generalized anxiety disorder and tics whereas, among women, hoarding was associated with social phobia, post-traumatic stress disorder, body dysmorphic disorder, nail biting, and skin picking. In women but not men, hoarding was associated with schizotypal and dependent personality disorder dimensions, and with low conscientiousness. These findings indicate that specific clinical correlates of hoarding in OCD are different in men and women and may reflect sex-specific differences in the course, expression, and/or etiology of hoarding behavior in OCD. [Copyright &y& Elsevier]
- Published
- 2008
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28. Further development of YBOCS dimensions in the OCD Collaborative Genetics Study: Symptoms vs. categories
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Pinto, Anthony, Greenberg, Benjamin D., Grados, Marco A., Bienvenu, O. Joseph, Samuels, Jack F., Murphy, Dennis L., Hasler, Gregor, Stout, Robert L., Rauch, Scott L., Shugart, Yin Y., Pauls, David L., Knowles, James A., Fyer, Abby J., McCracken, James T., Piacentini, John, Wang, Ying, Willour, Virginia L., Cullen, Bernadette, Liang, Kung-Yee, and Hoehn-Saric, Rudolf
- Subjects
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OBSESSIVE-compulsive disorder , *FACTOR analysis , *SELF-injurious behavior , *COMPULSIVE behavior - Abstract
Abstract: Despite progress in identifying homogeneous subphenotypes of obsessive-compulsive disorder (OCD) through factor analysis of the Yale Brown Obsessive-Compulsive Scale Symptom Checklist (YBOCS-SC), prior solutions have been limited by a reliance on presupposed symptom categories rather than discrete symptoms. Furthermore, there have been few attempts to evaluate the familiality of OCD symptom dimensions. The purpose of this study was to extend prior work by this collaborative group in category-based dimensions by conducting the first-ever exploratory dichotomous factor analysis using individual OCD symptoms, comparing these results to a refined category-level solution, and testing the familiality of derived factors. Participants were 485 adults in the six-site OCD Collaborative Genetics Study, diagnosed with lifetime OCD using semi-structured interviews. YBOCS-SC data were factor analyzed at both the individual item and symptom category levels. Factor score intraclass correlations were calculated using a subsample of 145 independent affected sib pairs. The item- and category-level factor analyses yielded nearly identical 5-factor solutions. While significant sib–sib associations were found for four of the five factors, Hoarding and Taboo Thoughts were the most robustly familial (r ICC ≥0.2). This report presents considerable converging evidence for a five-factor structural model of OCD symptoms, including separate factor analyses employing individual symptoms and symptom categories, as well as sibling concordance. The results support investigation of this multidimensional model in OCD genetic linkage studies. [Copyright &y& Elsevier]
- Published
- 2008
- Full Text
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29. Four-Factor Structure of Obsessive-Compulsive Disorder Symptoms in Children, Adolescents, and Adults.
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Stewart, S. Evelyn, Rosario, Maria C., Baer, Lee, Carter, Alice S., Brown, Timothy A., Scharf, Jeremiah M., Illmann, Cornelia, Leckman, James F., Sukhodolsky, Denis, Katsovich, Lilya, Rasmussen, Steven, Goodman, Wayne, Delorme, Richard, Leboyer, Marion, Chabane, Nadia, Jenike, Michael A., Geller, Daniel A., and Pauls, David L.
- Subjects
- *
OBSESSIVE-compulsive disorder , *OBSESSIVE-compulsive disorder in adolescence , *OBSESSIVE-compulsive disorder in children , *PSYCHOLOGICAL distress , *ANXIETY , *CHILD research , *COMPULSIVE behavior , *NEUROSES , *ADOLESCENT psychiatry - Abstract
The article presents a study focusing on the validity of the four-factor model of obsessive-compulsive disorder (OCD) symptom structure in children, adolescents and adult groups. It states that OCD is characterized by the presence of repetitive thoughts, images, impulses, behaviors, or mental acts that are performed to relieve anxiety or distress. It cites that the study has significant clinical and research implications and have several limitations that must be recognized which include the reliance on the symptom checklists of the Y-BOCS and CYBOCS and the categories that was used.
- Published
- 2008
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30. Further Evidence for Co-Segregation between Pediatric Obsessive Compulsive Disorder and Attention Deficit Hyperactivity Disorder: A Familial Risk Analysis
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Geller, Daniel, Petty, Carter, Vivas, Fe, Johnson, Jessica, Pauls, David, and Biederman, Joseph
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OBSESSIVE-compulsive disorder in children , *ADOLESCENT psychopathology , *ATTENTION-deficit hyperactivity disorder , *RESEARCH , *NEUROSES in children , *ADOLESCENT psychology - Abstract
Background: To examine the relationship between obsessive compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) in children and adolescents using familial risk analysis. Methods: We assessed for ADHD and OCD in the 1057 first-degree relatives of three groups of index children: those with OCD and ADHD, those with OCD but no ADHD and matched controls with neither disorder. Results: The age-corrected risk for OCD was similarly elevated in families of OCD youth with (14.8%) and without ADHD (17.5%) (p = .78), and both groups had significantly higher rates of OCD compared with controls (.5%) (p < .001). In contrast, the risk for ADHD was significantly elevated only among relatives of youth who had ADHD (15.3%) compared with controls (4.6%) (p < .001). Relatives affected with ADHD also had a significantly elevated risk for OCD compared to relatives unaffected by ADHD (20% vs. 4.9%, hazard ratio 4.8) (p < .001) and the two disorders occurred together with higher than expected frequency in affected relatives of OCD+ADHD probands (p < . 001) suggesting co-segregation between these two disorders. There was no evidence of nonrandom mating between OCD- and ADHD-affected spouses. Conclusions: These results extend previous findings regarding the familiality of both OCD and ADHD and provide further evidence of a familial relationship between ADHD and pediatric OCD which best fit the hypothesis of a unique familial subtype. [Copyright &y& Elsevier]
- Published
- 2007
- Full Text
- View/download PDF
31. Hoarding in obsessive–compulsive disorder: Results from the OCD Collaborative Genetics Study
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Samuels, Jack F., Bienvenu, O. Joseph, Pinto, Anthony, Fyer, Abby J., McCracken, James T., Rauch, Scott L., Murphy, Dennis L., Grados, Marco A., Greenberg, Benjamin D., Knowles, James A., Piacentini, John, Cannistraro, Paul A., Cullen, Bernadette, Riddle, Mark A., Rasmussen, Steven A., Pauls, David L., Willour, Virginia L., Shugart, Yin Y., Liang, Kung-yee, and Hoehn-Saric, Rudolf
- Subjects
- *
OBSESSIVE-compulsive disorder , *COMORBIDITY , *ANXIETY disorders , *PERSONALITY disorders - Abstract
Abstract: Hoarding behavior occurs frequently in obsessive–compulsive disorder (OCD). Results from previous studies suggest that individuals with OCD who have hoarding symptoms are clinically different than non-hoarders and may represent a distinct clinical group. In the present study, we compared 235 hoarding to 389 non-hoarding participants, all of whom had OCD, collected in the course of the OCD Collaborative Genetics Study. We found that, compared to non-hoarding individuals, hoarders were more likely to have symmetry obsessions and repeating, counting, and ordering compulsions; poorer insight; more severe illness; difficulty initiating or completing tasks; and indecision. Hoarders had a greater prevalence of social phobia and generalized anxiety disorder. Hoarders also had a greater prevalence of obsessive–compulsive and dependent personality disorders. Five personality traits were independently associated with hoarding: miserliness, preoccupation with details, difficulty making decisions, odd behavior or appearance, and magical thinking. Hoarding and indecision were more prevalent in the relatives of hoarding than of non-hoarding probands. Hoarding in relatives was associated with indecision in probands, independently of proband hoarding status. The findings suggest that hoarding behavior may help differentiate a distinct clinical subgroup of people with OCD and may aggregate in some OCD families. Indecision may be a risk factor for hoarding in these families. [Copyright &y& Elsevier]
- Published
- 2007
- Full Text
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32. Familiality of Factor Analysis-Derived YBOCS Dimensions in OCD-Affected Sibling Pairs from the OCD Collaborative Genetics Study
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Hasler, Gregor, Pinto, Anthony, Greenberg, Benjamin D., Samuels, Jack, Fyer, Abby J., Pauls, David, Knowles, James A., McCracken, James T., Piacentini, John, Riddle, Mark A., Rauch, Scott L., Rasmussen, Steven A., Willour, Virginia L., Grados, Marco A., Cullen, Bernadette, Bienvenu, O. Joseph, Shugart, Yin-Yao, Liang, Kung-yee, Hoehn-Saric, Rudolf, and Wang, Ying
- Subjects
- *
OBSESSIVE-compulsive disorder , *GENETIC research , *FACTOR analysis , *HERITABILITY , *MEDICAL research - Abstract
Background: Identification of familial, more homogenous characteristics of obsessive–compulsive disorder (OCD) may help to define relevant subtypes and increase the power of genetic and neurobiological studies of OCD. While factor-analytic studies have found consistent, clinically meaningful OCD symptom dimensions, there have been only limited attempts to evaluate the familiality and potential genetic basis of such dimensions. Methods: Four hundred eighteen sibling pairs with OCD were evaluated using the Structured Clinical Interview for DSM-IV and the Yale–Brown Obsessive Compulsive Scale (YBOCS) Symptom Checklist and Severity scales. Results: After controlling for sex, age, and age of onset, robust sib–sib intraclass correlations were found for two of the four YBOCS factors: Factor IV (hoarding obsessions and compulsions (p = .001) and Factor I (aggressive, sexual, and religious obsessions, and checking compulsions; p = .002). Smaller, but still significant, familiality was found for Factor III (contamination/cleaning; p = .02) and Factor II (symmetry/ordering/arranging; p = .04). Limiting the sample to female subjects more than doubled the familiality estimates for Factor II (p = .003). Among potentially relevant comorbid conditions for genetic studies, bipolar I/II and major depressive disorder were strongly associated with Factor I (p < .001), whereas ADHD, alcohol dependence, and bulimia were associated with Factor II (p < .01). Conclusions: Factor-analyzed OCD symptom dimensions in sibling pairs with OCD are familial with some gender-dependence, exhibit relatively specific relationships to comorbid psychiatric disorders and thus may be useful as refined phenotypes for molecular genetic studies of OCD. [Copyright &y& Elsevier]
- Published
- 2007
- Full Text
- View/download PDF
33. Examining the Relationship Between Obsessive-Compulsive Disorder and Attention-Deficit/Hyperactivity Disorder in Children and Adolescents: A Familial Risk Analysis
- Author
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Geller, Daniel, Petty, Carter, Vivas, Fe, Johnson, Jessica, Pauls, David, and Biederman, Joseph
- Subjects
- *
OBSESSIVE-compulsive disorder in children , *ATTENTION-deficit hyperactivity disorder , *PSYCHOMOTOR disorders , *COMORBIDITY , *BEHAVIOR disorders in children - Abstract
Background: To use family study methodology to examine the relationship between obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in children and adolescents. Methods: We assessed for ADHD and OCD in the 1533 first-degree relatives of three groups of index children: those with ADHD and OCD, those with ADHD but no OCD, and matched controls with neither disorder. Results: The risk for ADHD was similarly elevated in families of ADHD youth with (18.9%) and without OCD (20.1%; p = .91), and both groups had significantly higher rates of ADHD compared with controls (4.6%; p ≤ .001), which was consistent with previous research showing a strong familial risk for ADHD. The risk for OCD was significantly elevated only among relatives of youth with ADHD plus comorbid OCD (13.0%) compared with controls (.5%; p ≤ .001) and was consistent with previous research showing a strong familial risk for OCD. Relatives affected with ADHD had a significantly elevated risk for OCD compared with relatives unaffected by ADHD (7.4% vs. 1.3%; p < .001), suggestive of co-segregation between these disorders. There was no evidence of nonrandom mating between ADHD- and OCD-affected spouses. Conclusions: These results extend previously reported findings regarding the heritability of both ADHD and OCD and provide new evidence of a familial relationship between ADHD and pediatric OCD that best fits the hypothesis of a unique familial subtype. [Copyright &y& Elsevier]
- Published
- 2007
- Full Text
- View/download PDF
34. Principal Components Analysis of Obsessive–Compulsive Disorder Symptoms in Children and Adolescents
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Stewart, S. Evelyn, Rosario, Maria C., Brown, Timothy A., Carter, Alice S., Leckman, James F., Sukhodolsky, Denis, Katsovitch, Liliya, King, Robert, Geller, Daniel, and Pauls, David L.
- Subjects
- *
OBSESSIVE-compulsive disorder , *HETEROGENEITY , *NEUROSES , *PHENOTYPES - Abstract
Background: Obsessive–compulsive disorder (OCD) has a broadly diverse clinical expression that may reflect etiologic heterogeneity. Several adult studies have identified consistent symptom dimensions of OCD. The purpose of this study was to conduct an exploratory principal components analysis of obsessive–compulsive (OC) symptoms in children and adolescents with OCD to identify improved phenotypes for future studies. Methods: This study examined lifetime occurrence of OC symptoms included in the 13 symptom categories of the Yale–Brown Obsessive Compulsive Scale (Y-BOCS) and the Children’s Yale-Brown Obsessive–Compulsive Scale (CY-BOCS). Principal components analysis with promax rotation was performed on 231 children and adolescents with OCD and compared with results of similar adult studies. Results: A four-factor solution emerged explaining 59.8% of symptom variance characterized by 1) symmetry/ordering/repeating/checking; 2) contamination/cleaning/aggressive/somatic; 3) hoarding; and 4) sexual/religious symptoms. All factors included core symptoms that have been consistently observed in adult studies of OCD. Conclusions: In children and adolescents, OCD is a multidimensional disorder. Symptom dimensions are predominantly congruent with those described in similar studies of adults with OCD, suggesting fairly consistent covariation of OCD symptoms through the developmental course. Future work is required to understand changes in specific symptom dimensions observed across the life span. [Copyright &y& Elsevier]
- Published
- 2007
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35. A controlled family study of attention-deficit/hyperactivity disorder and Tourette's disorder.
- Author
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Stewart, S. Evelyn, Illmann, Cornelia, Geller, Daniel A., Leckman, James F., King, Robert, and Pauls, David L.
- Subjects
- *
ATTENTION-deficit hyperactivity disorder , *TOURETTE syndrome , *BEHAVIOR disorders in children , *TIC disorders , *MEDICAL genetics , *PATHOLOGICAL psychology , *GENETICS , *COMPARATIVE studies , *FAMILIES , *RESEARCH methodology , *MEDICAL cooperation , *MENTAL status examination , *RESEARCH , *PHENOTYPES , *COMORBIDITY , *EVALUATION research , *CASE-control method , *ODDS ratio - Abstract
Objective: Although attention-deficit/hyperactivity disorder (ADHD) is frequently comorbid with Tourette's disorder (TD), it is unclear whether they have a common genetic etiology. Familial relationships between DSM-IV ADHD and TD are studied in TD+ADHD, TD-only (TD-ADHD), ADHD-only (ADHD-TD), and control groups.Method: Case-control, direct-interview family study of 692 relatives of 75 TD+ADHD, 74 TD-only, 41 ADHD-only, and 49 control probands collected between 1999 and 2004. Age-corrected prevalence rates, odds ratios, and predictors of TD, ADHD, and OCD among relatives are estimated from blinded best-estimate diagnoses using survival Kaplan-Meier and generalized estimating equation regression analyses.Results: In relatives of the TD-only group, although ADHD exceeded control rates (p=.03), ADHD-TD (p=.51) rates were not increased. In the ADHD-only group, TD was increased (p=.004) but TD-ADHD rates were not increased (p=.18). Comorbid ADHD+TD diagnoses in relatives were elevated in all case groups (pConclusions: TD and ADHD are not alternate phenotypes of a single underlying genetic cause. There is an increased risk of comorbid ADHD and TD in affected families, possibly reflecting some overlapping neurobiology or pathophysiology. [ABSTRACT FROM AUTHOR] - Published
- 2006
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36. Effectiveness of intensive residential treatment (IRT) for severe, refractory obsessive-compulsive disorder
- Author
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Stewart, S. Evelyn, Stack, Denise Egan, Farrell, Colleen, Pauls, David L., and Jenike, Michael A.
- Subjects
- *
OBSESSIVE-compulsive disorder , *COMPULSIVE behavior , *NEUROSES , *PSYCHIATRY - Abstract
Abstract: Objective: The aim of this study was to determine the effectiveness of an innovative Intensive Residential Treatment (IRT) program for severe refractory Obsessive-Compulsive Disorder (OCD). No formalized OCD IRT outcome studies have been completed to date in North America. Method: Subjects admitted to the Massachusetts General Hospital/McLean OCD Institute (OCDI) between February 1997 and June 2003 comprised the intent-to-treat sample. Measures of OCD severity, depression severity and psychosocial well-being were determined at admission, interim and discharge points, and were subsequently compared via t-tests using a last-observation-carried-forward approach. Initial OCD severity subgroups and treatment length subgroups were created and analyzed. Correlations and stepwise linear regressions were conducted to determine treatment length predictors. Results: The sample of 403 individuals (58.7% male) had an average 66 day treatment length. Mean YBOCS scores decreased by 30.1%, from 26.6 (SD 6.1) at admission to 18.6 (SD 7.2) at discharge, reflecting a clinically meaningful improvement (p <0.001). Psychosocial functioning, depression severity scores and self-report global functioning ratings also indicated significant improvement. Subgroups with longer treatment lengths tended to have earlier ages of OCD onset and increased OCD severity scores at admission. Conclusion: IRT deserves recognition as a therapeutic approach for severe, refractory OCD. In the largest study to date for IRT significant improvements of OCD severity, depression severity and quality of life were determined. IRT should be considered prior to more invasive approaches for severe refractory OCD. [Copyright &y& Elsevier]
- Published
- 2005
- Full Text
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37. Prospective Study of Prodromal Features for Bipolarity in Well Amish Children.
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Egeland, Janice A., Shaw, Jon A., Endicott, Jea, Pauls, David L., Allen, Cleona R., Hostetter, Abram M., and Sussex, James N.
- Subjects
- *
BIPOLAR disorder , *AMISH children - Abstract
Objective: A prospective study of psychiatrically well Amish children to determine differences in the frequency and pattern of clinical features that may be prodromal for bipolar I disorder. Method: Children with a bipolar I parent (n = 100) and children of well parents in a matched control sample (n = 110) were assessed annually for 7 years with semistructured interviews covering medical/developmental features and symptoms/behaviors that are possibly prodromal for bipolarity. Randomized histories of these 210 children were evaluated blindly by 4 clinicians for independent ratings of risk for bipolarity. Results: Thirty-eight percent of the children of bipolar parents were rated as at risk compared with 17% of children in the control sample. Most control sample children with risk ratings had well parents with a bipolar sibling (i.e., family history positive). Children with family histories negative for mental illness rarely received even a low risk rating. Clinical features significantly (p ≤ .05) more frequent among children of a bipolar parent included mood lability, low energy, anxious/worried, hyper-alert, attention problems/distractible and school role impairment, easily excited, sensitivity, somatic complaints, and stubborn/determined. Conclusion: Mini-clusters of early possible predictors suggest a natural history of episodic prodromal features rather than the chronic symptom pattern sometimes described for children at risk for bipolar disorder. [ABSTRACT FROM AUTHOR]
- Published
- 2003
- Full Text
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38. Psychiatric genetics: Search for phenotypes.
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Leboyer, Marion, Bellivier, Frank, Nosten-Bertrand, Marika, Jouvent, Roland, Pauls, David, and Mallet, Jacques
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PHENOTYPES , *GENETIC psychology - Abstract
Focuses on the implications of development in phenotypic description on psychiatric genetics. Pace of progress in molecular biology and genetic epidemiology; Candidate symptom approach; Endophenotype approach that identifies sub-clinical traits.
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- 1998
- Full Text
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39. Autism Spectrum Symptoms in a Tourette's Disorder Sample.
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Darrow, Sabrina M., Grados, Marco, Sandor, Paul, Hirschtritt, Matthew E., Illmann, Cornelia, Osiecki, Lisa, Dion, Yves, King, Robert, Pauls, David, Budman, Cathy L., Cath, Danielle C., Greenberg, Erica, Lyon, Gholson J., McMahon, William M., Lee, Paul C., Delucchi, Kevin L., Scharf, Jeremiah M., and Mathews, Carol A.
- Subjects
- *
TOURETTE syndrome , *AUTISM spectrum disorders , *ATTENTION-deficit hyperactivity disorder , *HERITABILITY , *OBSESSIVE-compulsive disorder , *RESEARCH funding , *COMORBIDITY - Abstract
Objective: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD, obsessive-compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD).Method: Participants with TD (n = 535) and their family members (n =234) recruited for genetic studies reported TD, OCD, and ADHD symptoms and completed the Social Responsiveness Scale Second Edition (SRS), which was used to characterize ASD symptoms.Results: SRS scores in participants with TD were similar to those observed in other clinical samples but lower than in ASD samples (mean SRS total raw score = 51; SD = 32.4). More children with TD met cut-off criteria for ASD (22.8%) than adults with TD (8.7%). The elevated rate in children was primarily due to high scores on the SRS Repetitive and Restricted Behaviors (RRB) subscale. Total SRS scores were correlated with TD (r = 0.27), OCD (r = 0.37), and ADHD (r = 0.44) and were higher among individuals with OCD symptom-based phenotypes than for those with tics alone.Conclusion: Higher observed rates of ASD among children affected by TD may in part be due to difficulty in discriminating complex tics and OCD symptoms from ASD symptoms. Careful examination of ASD-specific symptom patterns (social communication vs. repetitive behaviors) is essential. Independent of ASD, the SRS may be a useful tool for identifying patients with TD with impairments in social communication that potentially place them at risk for bullying and other negative sequelae. [ABSTRACT FROM AUTHOR]- Published
- 2017
- Full Text
- View/download PDF
40. 896 - Genetic and Phenotypic Overlap of Specific Obsessive-Compulsive Subtypes with Tourette Syndrome.
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Hirschtritt, Matthew, Darrow, Sabrina M., Illmann, Cornelia, Osiecki, Lisa, Grados, Marco, Sandor, Paul, Dion, Yves, King, Robert A., Pauls, David, Budman, Cathy L., Cath, Danielle C., Greenberg, Erica, Lyon, Gholson J., Yu, Dongmei, McGrath, Lauren M., McMahon, William M., Lee, Paul C., Delucchi, Kevin L., Scharf, Jeremiah M., and Mathews, Carol A.
- Subjects
- *
OBSESSIVE-compulsive disorder , *TOURETTE syndrome , *NEURAL development , *BIOLOGICAL psychiatry , *HUMAN genetics - Published
- 2017
- Full Text
- View/download PDF
41. A Multisite Study of Family Functioning Impairment in Pediatric Obsessive-Compulsive Disorder.
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Stewart, S. Evelyn, Hu, Yu-Pei, Leung, Aldrich, Chan, Elaine, Hezel, Dianne M., Lin, Sarah Yao, Belschner, Laura, Walsh, Casey, Geller, Daniel A., and Pauls, David L.
- Subjects
- *
OBSESSIVE-compulsive disorder in children , *FAMILIALISM , *BURDEN of care , *PARENTING , *REGRESSION analysis , *COMPULSIVE behavior , *THERAPEUTICS , *FAMILIES & psychology , *COMPARATIVE studies , *ECONOMIC aspects of diseases , *RESEARCH methodology , *MEDICAL cooperation , *OBSESSIVE-compulsive disorder , *PSYCHOLOGY of parents , *RESEARCH , *RESEARCH funding , *EVALUATION research , *PSYCHOLOGICAL factors - Abstract
Objective: Familial aspects of pediatric obsessive-compulsive disorder (OCD), including accommodation and treatment, have received notable and warranted attention. However, individual perspectives of its repercussions on family functioning, including emotional and occupational parental burden, have not been closely examined. The present study details this topic using a large multicenter sample.Method: Participants included 354 youth affected with OCD and their mothers and fathers ascertained through OCD programs in Boston, Massachusetts (n = 180) and Vancouver, British Columbia (n = 174). The validated OCD Family Functioning Scale and standard OCD measurements were completed. Descriptive, between-site, and cross-perspective comparative analyses were followed by regression model testing to predict family impairment.Results: Family functioning was negatively affected from youth, mother, and father perspectives. Impairment was reportedly more extensive at the time of worst OCD severity and was greater from maternal versus paternal viewpoints. Most frequently affected family tasks and implicated OCD symptoms included morning and bedtime routines and intrusive thoughts. Emotional repercussions in all members included stress and anxiety, followed by frustration or anger in youth and sadness in parents. Nearly half of mothers and one third of fathers reported daily occupational impairment. Compared with youth self-report, parents perceived fewer social and academic effects on their child. Family accommodation most consistently predicted family impairment, especially from parent perspectives. OCD and compulsion severity, contamination and religious obsessions, and comorbidities also predicted various perspectives of family subdomain impairment.Conclusion: This study quantitatively details the pervasive burden that pediatric OCD places on families, as reported from complementary relative perspectives. Further attention to this topic is warranted in clinical and research realms. [ABSTRACT FROM AUTHOR]- Published
- 2017
- Full Text
- View/download PDF
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