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

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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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Financial Impact of a Specialized Down Syndrome Clinic: Implications and Support for Institutional Support of Specialty Care Clinics

Author: VanZant & Vellody - American Journal of Medical Genetics, Part A

Abstract Individuals with Down syndrome (DS) have specific health care needs and require additional screening and surveillance for commonly associated conditions. The American Academy of Pediatrics (A

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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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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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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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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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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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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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Regression in Adolescents and Adults with Down Syndrome

Author: Chicoine & Capone - Chapter in Physical Health of Adults with Intellectual and Developmental Disabilities

Abstract There has been a growing number of clinical case reports of regression in adolescents and adults with Down syndrome who have shown unexpected and severe regression in cognitive and adaptive f

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Sport Preparticipation Screening for Asymptomatic Atlantoaxial Instability in Patients with Down Syndrome

Author: Tomlinson et al. - Clinical Journal of Sport Medicine (2018)

Abstract Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in eve

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Catatonia in Down Syndrome: A Treatable Cause of Regression

Author: Ghaziuddin et al. (2015) - Neuropsychiatric Disease and Treatment (2015)

Abstract Objective:  The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression

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A Center for Adults and Adolescents with Down Syndrome

Author: Chicoine, McGuire, Dominiak, Bilodeau, & Chicoine

An article written to celebrate the 20th anniversary of the opening of the Adult Down Syndrome Center of Advocate Lutheran General Hospital and Advocate Medical Group

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Longevity of a Woman With Down Syndrome

Author: Chicoine & McGuire - Mental Retardation (1997)

Abstract A case of a woman who is among the longest surviving people with Down syndrome was described. The life expectancy of persons with Down syndrome has increased more than six-fold to 56 years si

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Development of a Clinic for Adults With Down Syndrome

Author: Chicoine, McGuire, Hebein, Gilly

This is an article published in the journal Mental Retardation in 1994.

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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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