Browsing by Subject "Down Syndrome"
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Item Adapted dance- connecting mind, body and soul(2014-01-29) Swinford, Rachel R.; Ellett, Marsha L.; Sloan, Rebecca S.; Crabtree, Jeffrey L.; Horton-Deutsch, Sara L.; Stanton-Nichols, Kathleen A.Using Heideggerian interpretive phenomenology, this study illuminates the lived experience of an adapted dance program for individuals with Down syndrome and their family members. The overall pattern from both dancers and family members was adapted dance: connecting mind, body and soul. The primary theme from dancer interpretations was expressing a mosaic of positive experiences, and the primary theme from family member interpretations was experiencing pride in their loved ones. The dance program provided dancers an opportunity to express their authentic self while experiencing moments of full embodiment in the connection of their mind, body and soul. While dancers experienced the connection of mind-body-soul, family members recognized the importance of this connection in their loved one. This research is instrumental in advocating for opportunities for individuals with Down syndrome to experience dance as a social, physical and intellectual activity that results in learning and increasing social interactions. The research findings from this study can support future initiatives for dance programs that may influence a population that has limited access to physical activity and dance. The study’s teaching strategies, dance activities, class procedures and sequences, and feedback techniques can be used by other professionals who teach individuals with intellectual disabilities.Item A cephalometric comparison of children with Down's Syndrome and their normal siblings(1966) Landau, Macy J. (Macy Jack), 1937-The mongoloid face and craniofacial skeleton has been characterized by many investigators using clinical impressions and soft tissue measurements on living and autopsy material. Few studies have included data derived from cephalometric radiographs. The present study was designed to describe the mongoloid face and cranial base and to analyze the data. Twenty mongoloid children ranging in age from three years to 12 years, and their siblings were selected for study. A control group of children were selected on the basis of their essentially normal occlusion and facial skeleton. The data obtained from the cephalometric radiographs were analyzed in three ways. Each of the three groups of children, normal, mongoloid and their siblings were divided into four age groups, approximately three, five, seven and 11 years of age and means for the individual measurements were calculated. The sibling measurements were "corrected” to the age of the mongoloid child using the growth progression data from the normal children. The mean measurements of the “corrected” siblings and mongoloids were then compared using “t” tests for statistical significance. All children were then divided into three comparison pairs, normal-sibling, normal-mongoloid, and mongoloid-sibling, and the cephalometric measurements subjected to a multivariate, step-wise regression analysis. The growth of the maxillae and mandible were retarded in the Mongoloid children. The maxilla and mandible were positioned anteriorly under the cranial base.Item Correction to: Specific Susceptibility to COVID-19 in Adults with Down Syndrome(Springer, 2021-05-04) Illouz, Tomer; Biragyn, Arya; Frenkel-Morgenstern, Milana; Weissberg, Orly; Gorohovski, Alessandro; Merzon, Eugene; Green, Ilan; Iulita, Florencia; Flores-Aguilar, Lisi; Dierssen, Mara; De Toma, Ilario; Lifshitz, Hefziba; Antonarakis, Stylianos E.; Yu, Eugene; Herault, Yann; Potier, Marie-Claude; Botté, Alexandra; Roper, Randall; Sredni, Benjamin; Sarid, Ronit; London, Jacqueline; Mobley, William; Strydom, Andre; Okun, Eitan; Biology, School of ScienceThe current SARS-CoV-2 outbreak, which causes COVID-19, is particularly devastating for individuals with chronic medical conditions, in particular those with Down Syndrome (DS) who often exhibit a higher prevalence of respiratory tract infections, immune dysregulation and potential complications. The incidence of Alzheimer’s disease (AD) is much higher in DS than in the general population, possibly increasing further the risk of COVID-19 infection and its complications. Here we provide a biological overview with regard to specific susceptibility of individuals with DS to SARS-CoV-2 infection as well as data from a recent survey on the prevalence of COVID-19 among them. We see an urgent need to protect people with DS, especially those with AD, from COVID-19 and future pandemics and focus on developing protective measures, which also include interventions by health systems worldwide for reducing the negative social effects of long-term isolation and increased periods of hospitalization.Item Differential effects of Epigallocatechin-3-gallate containing supplements on correcting skeletal defects in a Down syndrome mouse model(Wiley Blackwell (John Wiley & Sons), 2016-04) Abeysekera, Irushi; Thomas, Jared; Georgiadis, Taxiarchis M.; Berman, Alycia G.; Hammond, Max A.; Dria, Karl J.; Wallace, Joseph M.; Roper, Randall J.; Department of Biology, School of ScienceSCOPE: Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is characterized by a spectrum of phenotypes including skeletal abnormalities. The Ts65Dn DS mouse model exhibits similar skeletal phenotypes as humans with DS. DYRK1A, a kinase encoded on Hsa21, has been linked to deficiencies in bone homeostasis in DS mice and individuals with DS. Treatment with Epigallocatechin-3-gallate (EGCG), a known inhibitor of Dyrk1a, improves some skeletal abnormalities associated with DS in mice. EGCG supplements are widely available but the effectiveness of different EGCG-containing supplements has not been well studied. METHODS AND RESULTS: Six commercially available supplements containing EGCG were analyzed, and two of these supplements were compared with pure EGCG for their impact on skeletal deficits in a DS mouse model. The results demonstrate differential effects of commercial supplements on correcting skeletal abnormalities in Ts65Dn mice. Different EGCG-containing supplements display differences in degradation, polyphenol content, and effects on trisomic bone. CONCLUSION: This work suggests that the dose of EGCG and composition of EGCG-containing supplements may be important in correcting skeletal deficits associated with DS. Careful analyses of these parameters may lead to a better understanding of how to improve skeletal and other deficits that impair individuals with DS.Item Epigallocatechin-3-gallate (EGCG) consumption in the Ts65Dn model of Down syndrome fails to improve behavioral deficits and is detrimental to skeletal phenotypes(Elsevier, 2017-08) Stringer, Megan; Abeysekera, Irushi; Thomas, Jared; LaCombe, Jonathan; Stancombe, Kailey; Stewart, Robert J.; Dria, Karl J.; Wallace, Joseph M.; Goodlett, Charles R.; Roper, Randall J.; Department of Biology, School of ScienceDown syndrome (DS) is caused by three copies of human chromosome 21 (Hsa21) and results in phenotypes including intellectual disability and skeletal deficits. Ts65Dn mice have three copies of ~ 50% of the genes homologous to Hsa21 and display phenotypes associated with DS, including cognitive deficits and skeletal abnormalities. DYRK1A is found in three copies in humans with Trisomy 21 and in Ts65Dn mice, and is involved in a number of critical pathways including neurological development and osteoclastogenesis. Epigallocatechin-3-gallate (EGCG), the main polyphenol in green tea, inhibits Dyrk1a activity. We have previously shown that EGCG treatment (~ 10 mg/kg/day) improves skeletal abnormalities in Ts65Dn mice, yet the same dose, as well as ~ 20 mg/kg/day did not rescue deficits in the Morris water maze spatial learning task (MWM), novel object recognition (NOR) or balance beam task (BB). In contrast, a recent study reported that an EGCG-containing supplement with a dose of 2–3 mg per day (~ 40–60 mg/kg/day) improved hippocampal-dependent task deficits in Ts65Dn mice. The current study investigated if an EGCG dosage similar to that study would yield similar improvements in either cognitive or skeletal deficits. Ts65Dn mice and euploid littermates were given EGCG [0.4 mg/mL] or a water control, with treatments yielding average daily intakes of ~ 50 mg/kg/day EGCG, and tested on the multivariate concentric square field (MCSF)—which assesses activity, exploratory behavior, risk assessment, risk taking, and shelter seeking—and NOR, BB, and MWM. EGCG treatment failed to improve cognitive deficits; EGCG also produced several detrimental effects on skeleton in both genotypes. In a refined HPLC-based assay, its first application in Ts65Dn mice, EGCG treatment significantly reduced kinase activity in femora but not in the cerebral cortex, cerebellum, or hippocampus. Counter to expectation, 9-week-old Ts65Dn mice exhibited a decrease in Dyrk1a protein levels in Western blot analysis in the cerebellum. The lack of beneficial therapeutic behavioral effects and potentially detrimental skeletal effects of EGCG found in Ts65Dn mice emphasize the importance of identifying dosages of EGCG that reliably improve DS phenotypes and linking those effects to actions of EGCG (or EGCG-containing supplements) in specific targets in brain and bone.Item Evaluation of the Effects of Green Tea Extracts on Bone Homeostasis in the Ts65Dn Down Syndrome Mouse Model(Office of the Vice Chancellor for Research, 2013-04-05) Abeysekera, Irushi S.; Thomas, Jared R.; Blazek, Joshua D.; Roper, Randall J.Down Syndrome (DS) is a genetic disorder that affects ~1 in 700 live births, caused by trisomy of human chromosome 21 (Hsa21), and results in cognitive impairment, craniofacial abnormalities, low muscle tone, and skeletal deficiencies. To study these phenotypes, we utilized the Ts65Dn mouse model, which contains three copies of approximately half the orthologous found on Hsa21 and exhibits similar phenotypes as found in humans with DS. Individuals with DS and Ts65Dn mice have deficits in bone mineral density (BMD), architecture, and bone strength. Over-expression of DYRK1A, a serine-threonine kinase encoded on Hsa21, has been linked to deficiencies in DS bone homeostasis. Epigallocatechin-3- gallate (EGCG), an aromatic polyphenol found in high concentrations in green tea, is a known inhibitor of Dyrk1a activity. Normalization of Dyrk1a activity by EGCG may have the potential to regulate bone homeostasis and increase BMD and bone strength in individuals with DS. In this study, we hypothesized that EGCG obtained from different sources would have differential effects in correcting bone deficits associated with DS. To test our hypothesis, we performed Liquid chromatography–mass spectrometry (LC-MS) on EGCG and related compounds from different sources. The LC-MS analysis determined the amount of EGCG and the degradation in our stock solution. Next, we treated three-weekold Ts65Dn and control male mice with EGCG for three weeks. At six weeks of age, mice were sacrificed. DXA and micro CT analysis were performed on the femurs and skulls of the mice to assess trabecular and cortical bone structure and BMD. Our results indicate the ability of EGCG to ameliorate skeletal deficiencies and compared pure EGCG with EGCG purchased from commercial vendors in correcting skeletal deficits associated with DS.Item Factors influencing nondisjunction in mammals(1971) Luthardt, Frederick WilliamItem Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome(Sage, 2021-01) Illouz, Tomer; Biragyn, Arya; Iulita, Maria Florencia; Flores-Aguilar, Lisi; Dierssen, Mara; De Toma, Ilario; Antonarakis, Stylianos E.; Yu, Eugene; Herault, Yann; Potier, Marie-Claude; Botté, Alexandra; Roper, Randall; Sredni, Benjamin; London, Jacqueline; Mobley, William; Strydom, Andre; Okun, Eitan; Medicine, School of MedicineThe risk of severe outcomes following respiratory tract infections is significantly increased in individuals over 60 years, especially in those with chronic medical conditions, i.e., hypertension, diabetes, cardiovascular disease, dementia, chronic respiratory disease, and cancer. Down Syndrome (DS), the most prevalent intellectual disability, is caused by trisomy-21 in ~1:750 live births worldwide. Over the past few decades, a substantial body of evidence has accumulated, pointing at the occurrence of alterations, impairments, and subsequently dysfunction of the various components of the immune system in individuals with DS. This associates with increased vulnerability to respiratory tract infections in this population, such as the influenza virus, respiratory syncytial virus, SARS-CoV-2 (COVID-19), and bacterial pneumonias. To emphasize this link, here we comprehensively review the immunobiology of DS and its contribution to higher susceptibility to severe illness and mortality from respiratory tract infections.Item Increased dosage and treatment time of Epigallocatechin-3-gallate (EGCG) negatively affects skeletal parameters in normal mice and Down syndrome mouse models(Public Library of Science, 2022-02-23) Jamal, Raza; LaCombe, Jonathan; Patel, Roshni; Blackwell, Matthew; Thomas, Jared R.; Sloan, Kourtney; Wallace, Joseph M.; Roper, Randall J.; Biology, School of ScienceBone abnormalities affect all individuals with Down syndrome (DS) and are linked to abnormal expression of DYRK1A, a gene found in three copies in people with DS and Ts65Dn DS model mice. Previous work in Ts65Dn male mice demonstrated that both genetic normalization of Dyrk1a and treatment with ~9 mg/kg/day Epigallocatechin-3-gallate (EGCG), the main polyphenol found in green tea and putative DYRK1A inhibitor, improved some skeletal deficits. Because EGCG treatment improved mostly trabecular skeletal deficits, we hypothesized that increasing EGCG treatment dosage and length of administration would positively affect both trabecular and cortical bone in Ts65Dn mice. Treatment of individuals with DS with green tea extract (GTE) containing EGCG also showed some weight loss in individuals with DS, and we hypothesized that weights would be affected in Ts65Dn mice after EGCG treatment. Treatment with ~20 mg/kg/day EGCG for seven weeks showed no improvements in male Ts65Dn trabecular bone and only limited improvements in cortical measures. Comparing skeletal analyses after ~20mg/kg/day EGCG treatment with previously published treatments with ~9, 50, and 200 mg/kg/day EGCG showed that increased dosage and treatment time increased cortical structural deficits leading to weaker appendicular bones in male mice. Weight was not affected by treatment in mice, except for those given a high dose of EGCG by oral gavage. These data indicate that high doses of EGCG, similar to those reported in some treatment studies of DS and other disorders, may impair long bone structure and strength. Skeletal phenotypes should be monitored when high doses of EGCG are administered therapeutically.