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Genetic analysis of activity, brain and behavioral associations in extended families with heavy genetic loading for bipolar disorder
- Annabel Vreeker, Scott C. Fears, Susan K. Service, Lucia Pagani, Joseph S. Takahashi, Carmen Araya, Xinia Araya, Julio Bejarano, Maria C. Lopez, Gabriel Montoya, Claudia Patricia Montoya, Terri M. Teshiba, Javier Escobar, Rita M. Cantor, Carlos López-Jaramillo, Gabriel Macaya, Julio Molina, Victor I. Reus, Chiara Sabatti, Roel A. Ophoff, Nelson B. Freimer, Carrie E. Bearden
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- Journal:
- Psychological Medicine / Volume 51 / Issue 3 / February 2021
- Published online by Cambridge University Press:
- 09 December 2019, pp. 494-502
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- Article
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Background
Disturbed sleep and activity are prominent features of bipolar disorder type I (BP-I). However, the relationship of sleep and activity characteristics to brain structure and behavior in euthymic BP-I patients and their non-BP-I relatives is unknown. Additionally, underlying genetic relationships between these traits have not been investigated.
MethodsRelationships between sleep and activity phenotypes, assessed using actigraphy, with structural neuroimaging (brain) and cognitive and temperament (behavior) phenotypes were investigated in 558 euthymic individuals from multi-generational pedigrees including at least one member with BP-I. Genetic correlations between actigraphy-brain and actigraphy-behavior associations were assessed, and bivariate linkage analysis was conducted for trait pairs with evidence of shared genetic influences.
ResultsMore physical activity and longer awake time were significantly associated with increased brain volumes and cortical thickness, better performance on neurocognitive measures of long-term memory and executive function, and less extreme scores on measures of temperament (impulsivity, cyclothymia). These associations did not differ between BP-I patients and their non-BP-I relatives. For nine activity-brain or activity-behavior pairs there was evidence for shared genetic influence (genetic correlations); of these pairs, a suggestive bivariate quantitative trait locus on chromosome 7 for wake duration and verbal working memory was identified.
ConclusionsOur findings indicate that increased physical activity and more adequate sleep are associated with increased brain size, better cognitive function and more stable temperament in BP-I patients and their non-BP-I relatives. Additionally, we found evidence for pleiotropy of several actigraphy-behavior and actigraphy-brain phenotypes, suggesting a shared genetic basis for these traits.
Contributors
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- By Phillip L. Ackerman, Soon Ang, Susan M. Barnett, G. David Batty, Anna S. Beninger, Jillian Brass, Meghan M. Burke, Nancy Cantor, Priyanka B. Carr, David R. Caruso, Stephen J. Ceci, Lillia Cherkasskiy, Joanna Christodoulou, Andrew R. A. Conway, Christine E. Daley, Janet E. Davidson, Jim Davies, Katie Davis, Ian J. Deary, Colin G. DeYoung, Ron Dumont, Carol S. Dweck, Linn Van Dyne, Pascale M. J. Engel de Abreu, Joseph F. Fagan, David Henry Feldman, Kurt W. Fischer, Marisa H. Fisher, James R. Flynn, Liane Gabora, Howard Gardner, Glenn Geher, Sarah J. Getz, Judith Glück, Ashok K. Goel, Megan M. Griffin, Elena L. Grigorenko, Richard J. Haier, Diane F. Halpern, Christopher Hertzog, Robert M. Hodapp, Earl Hunt, Alan S. Kaufman, James C. Kaufman, Scott Barry Kaufman, Iris A. Kemp, John F. Kihlstrom, Joni M. Lakin, Christina S. Lee, David F. Lohman, N. J. Mackintosh, Brooke Macnamara, Samuel D. Mandelman, John D. Mayer, Richard E. Mayer, Martha J. Morelock, Ted Nettelbeck, Raymond S. Nickerson, Weihua Niu, Anthony J. Onwuegbuzie, Jonathan A. Plucker, Sally M. Reis, Joseph S. Renzulli, Heiner Rindermann, L. Todd Rose, Anne Russon, Peter Salovey, Scott Seider, Ellen L. Short, Keith E. Stanovich, Ursula M. Staudinger, Robert J. Sternberg, Carli A. Straight, Lisa A. Suzuki, Mei Ling Tan, Maggie E. Toplak, Susana Urbina, Richard K. Wagner, Richard F. West, Wendy M. Williams, John O. Willis, Thomas R. Zentall
- Edited by Robert J. Sternberg, Oklahoma State University, Scott Barry Kaufman, New York University
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- Book:
- The Cambridge Handbook of Intelligence
- Published online:
- 05 June 2012
- Print publication:
- 30 May 2011, pp xi-xiv
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Patient assessment of tests to detect cervical cancer
- Karen Basen-Engquist, Rachel T. Fouladi, Scott B. Cantor, Eileen Shinn, Dawen Sui, Mathilde Sharman, Michele Follen
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- Journal:
- International Journal of Technology Assessment in Health Care / Volume 23 / Issue 2 / April 2007
- Published online by Cambridge University Press:
- 01 April 2007, pp. 240-247
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- Article
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Objectives: This study was undertaken to understand how women view characteristics of tests for cervical dysplasia, because these characteristics can affect patient decision-making about screening and follow-up.
Methods: We recruited women who participated in a clinical trial of optical spectroscopy for the diagnosis of cervical dysplasia and used conjoint analysis to assess the women's preferences concerning test attributes. One group of women had a history of an abnormal Papanicolaou smear (diagnostic sample), while the other group did not (screening sample). Participants rated pairs of test scenarios that varied on characteristics such as test sensitivity and painfulness. Based on their responses, the relative importance of test sensitivity, specificity, timing of results feedback and treatment, and pain were calculated, and a cluster analysis was done to identify subgroups of participants with different preference patterns.
Results: In the overall sample, sensitivity was the most important attribute, followed by timing, specificity, and pain. Cluster analysis revealed four distinct groups who placed varying importance on each characteristic. The participants in the cluster for which pain was the most important attribute were more likely to be diagnostic patients, non-white, and have low education levels. They also reported more anxiety and pain during the examination than participants in other clusters.
Conclusions: To continue to reduce morbidity and mortality from cervical cancer, developers of new testing procedures should take into account test attributes such as these, which may affect adherence to screening and diagnostic follow-up to further minimize morbidity and mortality from cervical cancer.