Article
Medicine, General & Internal
Sandro Covain, Sebastien Baillieul, Thai Duy Nguyen, Michel Guinot, Stephane Doutreleau, Veronique-Aurelie Bricout
Summary: This study evaluated physical fitness in adults with Down's syndrome (DS) and identified specific physical fitness profiles depending on gender and physical activity levels. The results showed that adults with DS have lower physical fitness and exhibit heterogeneity in terms of physical activity and sedentary levels, with a significant gender effect.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Genetics & Heredity
Erik Boot, Solveig Oskarsdottir, Joanne C. Y. Loo, Terrence Blaine Crowley, Ani Orchanian-Cheff, Danielle M. Andrade, Jill M. Arganbright, Rene M. Castelein, Christine Cserti-Gazdewich, Steven de Reuver, Ania M. Fiksinski, Gunilla Klingberg, Anthony E. Lang, Maria R. Mascarenhas, Edward M. Moss, Beata Anna Nowakowska, Erwin Oechslin, Lisa Palmer, Gabriela M. Repetto, Nikolai Gil D. Reyes, Maude Schneider, Candice Silversides, Kathleen E. Sullivan, Ann Swillen, Therese A. M. J. van Amelsvoort, Jason P. Van Batavia, Claudia Vingerhoets, Donna M. McDonald-McGinn, Anne S. Bassett
Summary: The clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS) were updated through a stepwise process involving expert clinicians worldwide. The recommendations were formulated based on systematic literature review, clinical expert synthesis, and patient advocate survey results. The limited evidence base necessitates multidisciplinary recommendations as the current best practice in this evolving field.
GENETICS IN MEDICINE
(2023)
Article
Ophthalmology
Asma A. A. Zahidi, Lee McIlreavy, Jonathan T. Erichsen, J. Margaret Woodhouse
Summary: Children with Down's syndrome have poorer visual acuity compared to neurotypical children, and nystagmus leads to further visual impairment and a higher prevalence of myopia. However, nystagmus does not seem to affect the prevalence and axis direction of astigmatism.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Geriatrics & Gerontology
Stephanie S. G. Brown, Elijah Mak, Isabel Clare, Monika Grigorova, Jessica Beresford-Webb, Madeline Walpert, Elizabeth Jones, Young T. Hong, Tim D. Fryer, Jonathan P. Coles, Franklin I. Aigbirhio, Dana Tudorascu, Annie Cohen, Bradley T. Christian, Benjamin L. Handen, William E. Klunk, David K. Menon, Peter J. Nestor, Anthony J. Holland, Shahid H. Zaman
Summary: This study used diffusion-weighted imaging and connectomic modeling to assess the predictive ability of brain amyloid plaque burden, baseline cognition, and longitudinal cognitive change in individuals with Down's syndrome. The findings suggest that graph theory metrics based on the structural connectome are effective predictors of global amyloid deposition, and the connection density of the structural network at baseline is a promising predictor of current cognitive performance.
NEUROBIOLOGY OF AGING
(2022)
Article
Education, Special
Claire Borthwick, Joanna Inchley, Jill Jones
Summary: This study conducted interviews with caregivers to understand facilitators and barriers they face when implementing health promotion advice for individuals with Down's syndrome. The findings revealed the importance of caregivers actively promoting weight management, utilizing beneficial working practices like record keeping and communication channels, and having access to social care services and recreational activities. These insights are crucial for professionals in specialized healthcare settings to better meet the needs of individuals with Down's syndrome and their caregivers.
JOURNAL OF INTELLECTUAL DISABILITIES
(2021)
Article
Gerontology
Heather Fritz, Sage Chase, Lauren Morgan, Malcolm P. Cutchin
Summary: This study aimed to explore the experiences of Black older adults with multimorbidity and found that managing complexity is the core concept, which includes social context, daily logistics, care time, and care roles.
Article
Rehabilitation
Kelly McDonagh, Brian E. McGuire, Hannah Durand
Summary: The study interviewed ten mothers of children with Down's arthritis to explore the challenges they face. The mothers highlighted issues such as child pain, communication barriers, and difficulties in accessing healthcare services. They depicted a reality characterized by ongoing struggles, especially for parents of nonverbal children and those living far from pediatric rheumatology services.
DISABILITY AND REHABILITATION
(2022)
Article
Psychology, Developmental
Shimeng Ren, Xinjuan Wang, Jiong Qin, Qing Mu, Shuai Ye, Yang Zhang, Weidong Yu, Jingzhu Guo
Summary: The study found differences in gut microbiota composition between individuals with Down's syndrome and healthy controls, with a decrease in abundance of Acidaminococcaceae in DS patients. Additionally, Kyoto Encyclopedia of Genes and Genomes analysis revealed increased modules related to peptidases and pyrimidine metabolism. Overall, it confirmed that gut microbiota alterations occurred in Chinese patients with DS, and that the fecal microbiota was closely related to DS cognitive impairment.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Review
Cardiac & Cardiovascular Systems
Christopher C. Cheung, Thomas M. Roston, Brianna Davies, Jasmine Grewal, Zachary W. Laksman, Andrew D. Krahn
Summary: Patients with inherited arrhythmia syndromes and inherited cardiomyopathies require specialized care and monitoring during pregnancy, with consideration of physiological changes affecting heart conditions, risk assessment for maternal and fetal health, genetic testing, and collaboration between various specialists for optimal management.
CANADIAN JOURNAL OF CARDIOLOGY
(2021)
Article
Medicine, General & Internal
Maria Pedersen, Charlotte Hoybye
Summary: Transition of care for young adults with PWS can be optimized in smaller settings by incorporating a proper introduction and presentation of the adult team and clinic, providing detailed information about comorbidities and special needs, and using a checklist.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Neurosciences
Chiara Avancini, Sally Jennings, Srivas Chennu, Valdas Noreika, April Le, Tristan A. Bekinschtein, Madeleine J. Walpert, Isabel C. H. Clare, Anthony J. Holland, Shahid H. Zaman, Howard Ring
Summary: This study characterized the electrophysiological markers of local and global predictive processes in individuals with Down's syndrome. The results showed that the predictive processes of auditory violation detection are preserved in individuals with Down's syndrome, but the sensitivity to local deviancies decreases with age. However, these electrophysiological markers did not predict subsequent cognitive decline in Down's syndrome patients.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2022)
Article
Cell Biology
Yunjie Wang, Zexu Li, Guanheng Yang, Linlin Cai, Fan Yang, Yaqiong Zhang, Yitao Zeng, Qingwen Ma, Fanyi Zeng
Summary: Down's syndrome is a disorder with multiple congenital disabilities, which can be associated with severe cognitive impairment, intellectual disability, and other comorbid conditions. Studies have found a significant number of up-regulated and down-regulated genes in individuals with DS, which are enriched in biological processes such as cell adhesion, cardiac muscle contraction, and immune response. This research provides insights into the potential role of alternative splicing in DS.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Critical Care Medicine
Craig Steven Jabaley
Summary: This article is one of the selected ten reviews from the Annual Update in Intensive Care and Emergency Medicine 2023. Other selected articles can be found at https://www.biomedcentral.com/collections/annualupdate2023. More information about the Annual Update in Intensive Care and Emergency Medicine is available at https://link.springer.com/bookseries/8901.
Article
Nursing
Lisa Whitehead, Peter Palamara, Olutoyin Oluwakemi Babatunde-Sowole, Jennifer Boak, Natasha Franklin, Robyn Quinn, Cobie George, Jacqueline Allen
Summary: This study explored Australian nurses' experience in caring for adults with multiple chronic conditions and their education needs in the management of multimorbidity. The nurses recognized the complexity of care needed for adults living with multimorbidity, and believed that a person-centred approach is important. They also highlighted the evolving nature of their role and the value of education and training in multimorbidity care.
JOURNAL OF ADVANCED NURSING
(2023)
Article
Medicine, Research & Experimental
Alaa Ghali, Valentin Lacombe, Camille Ravaiau, Estelle Delattre, Maria Ghali, Geoffrey Urbanski, Christian Lavigne
Summary: This study assessed the effectiveness of pacing in managing patients with post-COVID-19 syndrome (PCS). The results showed that patients with high adherence to pacing had better recovery and improvement rates.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Critical Care Medicine
Kristin M. Jensen, Carter J. Sevick, Laura A. S. Seewald, Ann C. Halbower, Matthew M. Davis, Edward R. B. McCabe, Allison Kempe, Steven H. Abman
Article
Health Care Sciences & Services
Michelle L. Stransky, Kristin M. Jensen, Megan A. Morris
JOURNAL OF GENERAL INTERNAL MEDICINE
(2018)
Article
Pediatrics
Angela P. Presson, Ginger Partyka, Kristin M. Jensen, Owen J. Devine, Sonja A. Rasmussen, Linda L. McCabe, Edward R. B. McCabe
JOURNAL OF PEDIATRICS
(2013)
Article
Health Care Sciences & Services
Kristin M. Jensen, Colin R. Cooke, Matthew M. Davis
Article
Public, Environmental & Occupational Health
Kristin M. Jensen, Elizabeth J. Campagna, Elizabeth Juarez-Colunga, Allan Prochazka, Desmond K. Runyan
Summary: The study revealed that rates of preventive healthcare activities among adolescents and adults with Down syndrome were low, regardless of the age focus consistency of their primary care provider. This indicates a significant opportunity to improve primary care in this vulnerable population.
AMERICAN JOURNAL OF PREVENTIVE MEDICINE
(2021)
Article
Health Care Sciences & Services
Kristin M. Jensen, Elizabeth J. Campagna, Elizabeth Juarez-Colunga, Desmond K. Runyan, Allan V. Prochazka
Summary: This study focused on identifying factors that predict receipt of preventive healthcare among DS patients, finding that past receipt of healthcare activities was the best predictor of future receipt of these activities.
DISABILITY AND HEALTH JOURNAL
(2021)
Meeting Abstract
Health Care Sciences & Services
Kristin M. Jensen, Laura A. Seewald, Molly Levitt, Edward R. McCabe, Francis J. Hickey, Jeremy R. Nicolarsen, Joseph Kay, Amber Khanna
JOURNAL OF GENERAL INTERNAL MEDICINE
(2015)
Article
Education, Special
K. M. Jensen, M. M. Davis
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2013)
Article
Education, Special
K. M. Jensen, L. C. Taylor, M. M. Davis
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2013)
Meeting Abstract
Health Care Sciences & Services
Kristin M. Jensen, Laura C. Taylor, Matthew M. Davis
JOURNAL OF GENERAL INTERNAL MEDICINE
(2012)
Article
Allergy
Megan K. Lynch, Carolyn H. Jones, Annick Gaye, Kristin K. D. Manteuffel
ALLERGY AND ASTHMA PROCEEDINGS
(2006)
