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

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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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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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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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Down Syndrome EyeWiki

Author: American Academy of Ophthalmology - Eye Encyclopedia

EyeWiki is an Eye Encyclopedia developed by the American Academy of Ophthalmology with content contributed by ophthalmologists (eye physicians and surgeons). There is a Down syndrome page wit

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Prevalence of Infectious Diseases Among 6078 Individuals with Down Syndrome in the United States

Author: Fitzpatrick et al. - Journal of Patient-Centered Research and Reviews

Abstract A recent disease prevalence study of the largest documented Down syndrome (DS) cohort in the United States strongly suggested significant disparity in general infectious disease conditions am

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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

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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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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Co-Occurring Medical Conditions in Adults with Down Syndrome

Author: Capone et al. - American Journal of Medical Genetics Part A (2017)

Abstract Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has

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Low Risk of Solid Tumors in Persons with Down Syndrome

Author: Hasle et al. - Genetics in Medicine (2016)

Abstract Purpose:  The aim of this study was to investigate cancer incidence in a large cohort of persons with Down syndrome.  Methods:  Down syndrome was identified from th

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Morbidity and Medication in a Large Population of Individuals with Down Syndrome Compared to the General Population

Author: Alexander et al. - Developmental Medicine and Child Neurology (2015)

Abstract Aim: The aim of this study was to describe the incidence of morbidities and the prevalence of medical prescriptions in a large Down syndrome population. Me

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Pain Perception in People with Down Syndrome: A Synthesis of Clinical and Experimental Research

Author: McGuire & Defrin - Frontiers in Behavioral Neuroscience (2015)

Abstract People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain pe

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Breast Cancer Screening for Women with Down Syndrome

Author: Chicoine et al. - Intellectual and Developmental Disabilities (2015)

Abstract This study examined mammogram reports of women with Down syndrome (DS) treated in the largest medical facility specifically serving adults with DS in the United States. Records of 684 women a

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Supporting a Happy, Healthy Adolescence for Young People with Down Syndrome and Other Intellectual Disabilities: Recommendations for Clinicians

Author: Baumer & Davidson - Current Opinion in Pediatrics (2014)

Abstract Purpose of Review:  To review clinical updates and current healthcare issues for adolescents with Down syndrome and intellectual disabilities, including behavioral, social, and emoti

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The Utility of Anti-Tissue Transglutaminase Antibody-IgA (tTG-IgA) Testing for Celiac Disease in Adults with Down Syndrome

Author: Chicoine, Parikh, Sulo, & Chicoine - American Journal of Clinical Medicine

Abstract Objectives:  We assessed the diagnostic accuracy of the anti-tissue transglutaminase IgA antibody (tTG-IgA) test compared to esophagogastroduodenoscopy (EGD) in adults with Down&

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Pandemic (H1N1) 2009 Virus and Down Syndrome Patients

Author: Perez-Padilla et al. - Emerging Infectious Diseases (2010)

Abstract We compared prevalence of hospitalization, endotracheal intubation, and death among case-patients with and without Down syndrome during pandemic (H1N1) 2009 in Mexico. Likelihoods of hospital

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