Browsing by Author "Hughes, Susan"

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    BAILA: A Randomized Controlled Trial of Latin Dancing to Increase Physical Activity in Spanish-Speaking Older Latinos
    (Oxford Academic, 2022-12) Marquez, David X.; Wilbur, JoEllen; Hughes, Susan; Wilson, Robert; Buchner, David M.; Berbaum, Michael L.; McAuley, Edward; Aguiñaga, Susan; Balbim, Guilherme M.; Vásquez, Priscilla M.; Marques, Isabela G.; Wang, Tianxiu; Kaushal, Navin; Health Sciences, School of Health and Human Sciences
    BACKGROUND: Latinos are the fastest growing minority group of the older adult population. Although physical activity (PA) has documented health benefits, older Latinos are less likely to engage in leisure time PA than older non-Latino whites. Dance, popular among Latinos, holds promise as a culturally relevant form of PA. PURPOSE: To describe self-reported and device-assessed changes in PA as a result of a randomized controlled trial of BAILAMOS, a 4-month Latin dance program with a 4-month maintenance program, versus a health education control group. METHODS: Adults, aged 55+, Latino/Hispanic, Spanish speaking, with low PA levels at baseline, and risk for disability were randomized to the dance program (n = 167) or health education condition (n = 166). Data were analyzed using multilevel modeling with full information maximum likelihood. RESULTS: A series of multilevel models revealed significant time × group interaction effects for moderate-to-vigorous physical activity (MVPA), dance PA, leisure PA, and total PA. Exploring the interaction revealed the dance group to significantly increase their MVPA, dance PA, leisure PA, and total PA at months 4 and 8. Household PA and activity counts from accelerometry data did not demonstrate significant interaction effects. CONCLUSIONS: The study supports organized Latin dance programs to be efficacious in promoting self-reported PA among older Latinos. Efforts are needed to make dancing programs available and accessible, and to find ways for older Latinos to add more PA to their daily lives. CLINICAL TRIAL INFORMATION: NCT01988233.
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    Latin Dance and Working Memory: The Mediating Effects of Physical Activity Among Middle-Aged and Older Latinos
    (Frontiers, 2022-04-15) Aguiñaga, Susan; Kaushal, Navin; Balbim, Guilherme M.; Wilson, Robert S.; Wilbur, JoEllen E.; Hughes, Susan; Buchner, David M.; Berbaum, Michael; McAuley, Edward; Vásquez, Priscilla M.; Marques, Isabela G.; Wang, Tianxiu; Marquez, David X.; Health Sciences, School of Health and Human Sciences
    Background Physical activity (PA) is a promising method to improve cognition among middle-aged and older adults. Latinos are at high risk for cognitive decline and engaging in low levels of PA. Culturally relevant PA interventions for middle-aged and older Latinos are critically needed to reduce risk of cognitive decline. We examined changes in cognitive performance among middle-aged and older Latinos participating in the BAILAMOS™ dance program or a health education group and compared the mediating effects of PA between group assignment and change in cognitive domains. Methods Our 8-month randomized controlled trial tested BAILAMOS™, a 4-month Latin dance program followed by a 4-month maintenance phase. A total of 333 older Latinos aged 55+ were randomized to either BAILAMOS™, or to a health education control group. Neuropsychological tests were administered, scores were converted to z-scores, and specific domains (i.e., executive function, episodic memory, and working memory) were derived. Self-reported PA was assessed, and we reported categories of total PA, total leisure PA, and moderate-to-vigorous PA as minutes/week. A series of ANCOVAs tested changes in cognitive domains at 4 and 8 months. A mediation analysis tested the mediating effects of each PA category between group assignment and a significant change in cognition score. Results The ANCOVAs found significant improvement in working memory scores among participants in the dance group at month 8 [F(1,328) = 5.79, p = 0.017, d = 0.20], but not in executive functioning [F(2,328) = 0.229, p = 0.80, Cohen’s d = 0.07] or episodic memory [F(2,328) = 0.241, p = 0.78, Cohen’s d = 0.05]. Follow-up mediation models found that total PA mediated the relationship between group assignment and working memory, in favor of the dance group (β = 0.027, 95% CI [0.0000, 0.0705]). Similarly, total leisure PA was found to mediate this relationship [β = 0.035, 95% CI (0.0041, 0.0807)]. Conclusion A 4-month Latin dance program followed by a 4-month maintenance phase improved working memory among middle-aged and older Latinos. Improvements in working memory were mediated by participation in leisure PA. Our results support the current literature that leisure time PA influences cognition and highlight the importance of culturally relevant PA modalities for Latinos. Clinical Trial Registration [www.ClinicalTrials.gov], identifier [NCT01988233].
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    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
    (BMC, 2021-04-19) Gillentine, Madelyn A.; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N.; De Vries, Bert B.A.; Vissers, Lisenka E.L.M.; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A.; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M.; Friedman, Jennifer; Wright, Meredith S.; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K.; White, Kerry M.; Elpeleg, Orly; Berger, Itai; Espineli, Edward J.; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Range, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L. Manace; Mckee, Shane; Mirzaa, Ghayda M.; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E.H.; Van Gassen, Koen L.I.; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K.; Nowakowski, Tomasz; Bernier, Raphael A.; Eichler, Evan E.; Pediatrics, School of Medicine
    Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. Methods: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. Results: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs. Conclusions: Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.