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For people with Down syndrome, family members, caregivers and professionals.

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Common Mental Health Disorders and Cognitive Decline in a Longitudinal Down Syndrome Cohort

Author: Idris et al. - BJPsych Open (2023)

Abstract Background:  Down syndrome is the most common genetic cause of intellectual disability and Alzheimer's disease. In the general population, common mental disorders (CMDs), inc

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Down Syndrome Medical Interest Group-USA (DSMIG-USA) Resources

Author: Down Syndrome Medical Interest Group-USA - Resource List

Are you a health professional looking for information on providing care for individuals with Down syndrome? The Down Syndrome Medical Interest Group-USA  offers several options to support you

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Down Syndrome Podcast Series for Parents, Educators, and Medical Professionals

Author: Down Syndrome Center of Western Pennsylvania - UPMC Children's Hospital of Pittsburgh

The link below goes to a list of podcasts hosted by Kishore Vellody, MD, medical director of the Children's Down Syndrome Center in Pittsburgh. Medical issues of children, teens, and adults wi

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Perspectives on Pain in Down Syndrome

Author: Shaikh et al. - Medicinal Research Reviews (2023)

Abstract Down syndrome (DS) or trisomy 21 is a genetic condition often accompanied by chronic pain caused by congenital abnormalities and/or conditions, such as osteoarthritis, recurrent infections, a

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Down Syndrome for the Otolaryngologist: A Review

Author: Zalzal & Lawlor - JAMA Otolaryngology - Head & Neck Surgery (2023)

Abstract Importance:  There are many features of Down syndrome that prompt referral to an otolaryngologist. As the lifetime prevalence and life expectancy of individuals with Down syndrome in

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Weight Loss and Alzheimer's Disease in Down Syndrome

Author: Fleming et al. - Journal of Alzheimer's Disease (2023)

Abstract Background:  Virtually all adults with Down syndrome (DS) develop Alzheimer's disease (AD) pathology, but research gaps remain in understanding early signs of AD in DS. Objec

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Global Medical Care Guidelines for Adults with Down Syndrome

Author: Medical Care Guidelines for Adults with Down Syndrome Workgroup - Global Down Syndrome Foundation

On October 20, 2020, the Global Medical Care Guidelines for Adults with Down Syndrome were published in the Journal of the American Medical Association (JAMA)  in an article called "

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Obstructive Sleep Apnea, Cerebrovascular Disease, and Amyloid in Older Adults with Down Syndrome Across the Alzheimer's Continuum

Author: Lao et al. - Sleep Advances: A Journal of the Sleep Research Society (2022)

Abstract We determined the extent to which obstructive sleep apnea (OSA) is associated with increased cerebrovascular disease and amyloid burden, and the relation of the two processes across clinical

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Association of Alzheimer Disease with Life Expectancy in People with Down Syndrome

Author: Iulita et al. - JAMA Network Open (2022)

Abstract Importance:  People with Down syndrome have a high risk of developing Alzheimer disease dementia. However, penetrance and age at onset are considered variable, and the association of

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Evaluation of Upper Airway Stimulation for Adolescents with Down Syndrome and Obstructive Sleep Apnea

Author: Yu et al. (2022) - JAMA Otolaryngology-Head & Neck Surgery

Abstract Importance :  Patients with Down syndrome have a high incidence of persistent obstructive sleep apnea (OSA) and limited treatment options. Upper airway hypoglossal stimulation has be

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Health Supervision for Children and Adolescents with Down Syndrome

Author: Bull et al. (2022) - Pediatrics (American Academy of Pediatrics Publication)

In April 2022, a clinical report was published in  Pediatrics , a publication of the American Academy of Pediatrics. These pediatric guidelines are "designed to assist the p

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Mechanistic Analysis of Age-Related Clinical Manifestations in Down Syndrome

Author: Chen et al. - Frontiers in Aging Neuroscience (2021)

Abstract Down syndrome (DS) is the most common genetic cause of Alzheimer's disease (AD) due to trisomy for all or part of human chromosome 21 (Hsa21). It is also associated with other phenoty

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Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the LIFE-DSR Study

Author: Hendrix et al. - Journal of Clinical Medicine (2021)

Abstract With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR

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Prevalence of Common Disease Conditions in a Large Cohort of Individuals with Down Syndrome in the United States

Author: Chicoine et al. - Journal of Patient-Centered Research and Reviews (2021)

Abstract Purpose:  Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the dev

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Medical Care of Adults with Down Syndrome: A Clinical Guideline

Author: Tsou et al. - JAMA (2020)

Abstract Importance:  Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the u

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Down Syndrome: Review Article

Author: Marilyn Bull, MD - The New England Journal of Medicine (2020)

Abstract Down syndrome, also called Down’s syndrome (DS), is the most common chromosomal condition associated with intellectual disability and is characterized by a variety of additional cli

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Challenges of Pediatric Disease in Adulthood

Author: Baumgardner & Chicoine - Journal of Patient-Centered Research and Reviews (2020)

Abstract Some chronic diseases - such as the rare bone disease X-linked hypophosphatemia, the impetus for a study reported within Volume 7, Issue 2 of the  Journal of Patient-Centered Researc

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Co-Occurring Medical Conditions in Adults with Down Syndrome. Part II.

Author: Capone et al. - American Journal of Medical Genetics Part A (2020)

Abstract Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance wit

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Down Syndrome and Dementia: Advances in the Field

Author: McGlinchey et al. - Current Opinion in Psychiatry (2020)

Abstract Purpose of Review:  People with Down syndrome represent the world's largest population with a genetic risk for Alzheimer's disease. This review will provide a short s

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Down Syndrome

Author: Antonarakis et al. - Nature Reviews: Disease Primers (2020)

Abstract Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the c

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Cancer Screening in Adults with Down Syndrome: A Proposal

Author: Rethore et al. - European Journal of Medical Genetics (2019)

Abstract Background : The specific distribution of cancers in Down syndrome (DS) calls into question the validity of screening policies for cancer surveillance as implemented for the general populatio

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Benefits and Harms of Mammography Screening for Women with Down Syndrome

Author: Alagoz et al. - Journal of General Internal Medicine (2019)

Abstract Background:  Women with Down syndrome have a lower breast cancer risk and significantly lower life expectancies than women without Down syndrome. Therefore, it is not clear whether m

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Course of Alzheimer Disease in People with Down Syndrome

Author: Chicoine, Dominiak, McGuire, Bilodeau

This is a poster that describes a small chart review study on Alzheimer's disease and Down syndrome done at the Adult Down Syndrome Center.

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The Pattern of Malignancies in Down Syndrome and Its Potential Context with the Immune System

Author: Satge & Seidel - Frontiers in Immunology (2018)

Abstract The immune surveillance theory of cancer posits that the body's immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the i

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Please note: The information on this site is for educational purposes only and is not intended to serve as a substitute for a medical, psychiatric, mental health, or behavioral evaluation, diagnosis, or treatment plan by a qualified professional. We recommend you review the educational material with your health providers regarding the specifics of your health care needs.

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