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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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Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder

Author: Santoro et al. - Translational Psychiatry (2023)

Abstract Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness

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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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Incidence and Clinical Outcomes of Pneumonia in Persons with Down Syndrome in the United States

Author: Janoff et al. - Vaccine (2023)

Abstract Background:  Persons with Down syndrome (DS) experience an increased risk of pneumonia. We determined the incidence and outcomes of pneumonia and relationship to underlying comorbidi

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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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Common Dermatologic Disorders in Down Syndrome: Systematic Review

Author: Lam et al. - JMIR Dermatology (2022)

Abstract Background:  Down syndrome (DS) has been associated with cardiovascular, gastrointestinal, and immune-related abnormalities. Several dermatologic conditions, including hidradenitis s

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Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus

Author: Santoro et al. (2022) - Frontiers in Neurology

Abstract Objective:  To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background:  The

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Evidence of Neuroinflammation and Immunotherapy Responsiveness in Individuals with Down Syndrome Regression Disorder

Author: Santoro et al. (2022) - Journal of Neurodevelopmental Disorders

Abstract Background:  Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abn

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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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Comorbidity Screening in Hidradenitis Suppurativa: Evidence-Based Recommendations from the US and Canadian Hidradenitis Suppurativa Foundations

Author: Garg et al. (2022) - Journal of the American Academy of Dermatology

Abstract Background:  Hidradenitis suppurativa (HS) is associated with comorbidities that contribute to poor health, impaired life quality, and mortality risk. Objective:  T

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Dermatologic Conditions in Down Syndrome

Author: Ryan et al. - Pediatric Dermatology (2021)

Abstract Down syndrome (DS) is the most common chromosomal condition and affects many organs including the skin. Dermatologists are an integral part of the DS care team. This is a review of both commo

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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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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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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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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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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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Catatonia in Down Syndrome: Systematic Approach to Diagnosis, Treatment and Outcome Assessment Based on a Case Series of Seven Patients

Author: Miles et al. - Neuropsychiatric Disease and Treatment (2019)

Abstract Objective:  The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-

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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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