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

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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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Mental Wellness in Adults with Down Syndrome (2nd Edition)

Author: Dennis McGuire, PhD and Brian Chicoine, MD - Book (2021)

The PDF linked below is a copy of the second edition of Dr. McGuire and Dr. Chicoine's book originally published by Woodbine House Publishing in 2021. After Woodbine closed in 2022, the publis

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Specialty Clinics for Adults with Down Syndrome: A Clinic Survey

Author: Santoro et al. - American Journal of Medical Genetics: Part A (2021)

Abstract Specialty centers improve care for patients with Down syndrome. The cohort of adults with Down syndrome is increasing, but the capacity for specialty centers to meet their medical care needs

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The Devastating Impact of COVID-19 on Individuals with Intellectual Disabilities in the United States

Author: Gleason et al. - NEJM Catalyst, Commentary (2021)

Summary A cross-sectional study of 64,858,460 patients across 547 health care organizations reveals that having an intellectual disability was the strongest independent risk factor for presenting with

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Medical Vulnerability of Individuals with Down Syndrome to Severe COVID-19 - Data from the Trisomy 21 Research Society and the UK ISARIC4C Survey

Author: Huls et al. - EClinicalMedicine (2021)

Abstract Background:  Health conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19.  Methods:&

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An International Survey on the Impact of COVID-19 in Individuals with Down Syndrome

Author: Huls et al. - EClinicalMedicine (2020)

Abstract Background:  Health conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19. Methods:  

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Heart Disease in Adults with Down Syndrome Between 1996 and 2016

Author: Fitzpatrick et al. - Journal of the American Board of Family Medicine (2020)

Abstract Purpose:  To describe demographic factors and calculate prevalence of heart disease-related conditions among the adult Down syndrome (DS) sample population and to compare demographic

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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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Pneumonia and Respiratory Infections in Down Syndrome: A Scoping Review of the Literature

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

Abstract Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature

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Clinical Characteristics of Individuals with Down Syndrome Deceased with COVID-19 in Italy - A Case Series

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

Abstract Background:  Persons with Down syndrome (DS) are presumed to be at high risk of severe CoVID-19 due to immune dysregulation and often compromised cardiopulmonary function. Aim of the

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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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Dermatologic Conditions in Down Syndrome: A Single-Center Retrospective Chart Review

Author: Rork et al. - Pediatric Dermatology (2020)

Abstract Background:  Current literature addressing dermatologic conditions associated with Down syndrome is limited, with emphasis on rare skin conditions and lack of consensus on the incide

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Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance

Author: Rosso et al. - Pediatrics (2020)

Abstract Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adapt

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Helping an Individual with Down Syndrome Tolerate COVID-19 Testing

Author: Adult Down Syndrome Center - Resource List

*Please note: this article discusses viral testing used to diagnose if an individual currently has COVID-19. This article does not discuss antibody testing used to determine if an individual was expos

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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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Non-Discrimination in Medical Treatment for COVID-19

Author: Adult Down Syndrome Center - Resource List

Reports of potential discrimination in medical treatment for individuals with intellectual and developmental disabilities have caused fear, anxiety, and anger within the Down syndrome community. Depar

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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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Self-Injurious Behavior

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is self-injurious behavior? Self-injurious behavior (SIB) is behavior that an individual does that results in harm to their own body. These behaviors may include hitting oneself, striking a body

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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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Unexplained Regression in Down Syndrome: 35 Cases from an International Down Syndrome Database

Author: Santoro et al. - Genetics in Medicine (2019)

Abstract Purpose:  An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease.  Me

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Health Care Transition Resources

Author: Ann Garcia and Grace O'Connor - Patient Advocates, Adult Down Syndrome Center

The resources below can be used by individuals with Down syndrome, their families and caregivers, and their health care providers during the transition from pediatric to adult health care.  G

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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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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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