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

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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

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

DSMIG-USA Speaker Series for Health Care Professionals

Author: Down Syndrome Medical Interest Group - USA - Continuing Education for Professionals

Click here to access the Speaker Series   Overview (from the DSMIG-USA website) The Down Syndrome Medical Interest Group-USA (DSMIG-USA) Speaker Series consists of webinars and enduring mater

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

Author: Down Syndrome Center - 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

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

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

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

Publisher's Book Description Awards for the First Edition:  2007 Independent Publisher Award: Bronze Medalist in Psychology/Mental Health Category 2006 Best Book Awards, Psychology/Me

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

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

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

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 Resear

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

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.  M

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

Author: Miles, Takahashi, Muckerman, Nowell, Ithman - 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-

Health Care Resources for Adults with Down Syndrome

Author: Down Syndrome Medical Interest Group - DSMIG

The DSMIG Health Care Resources for Adults with Down Syndrome page linked below contains practice guidelines, reviews, and research articles on adult health, health utilization, morbidity, and mortali

Tips for Communicating with a Patient with Intellectual Disabilities

Author: Center for Inclusive Health - Special Olympics

The resource linked below shares tips for communicating with patients with intellectual disabilities. As the tips indicate, the most important thing to remember is to communicate with the patient firs

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

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.

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

Estimation of the Number of People with Down Syndrome in the United States

Author: de Graaf, Buckley, & Skotko - Genetics in Medicine (2016)

Abstract: Purpose:  An accurate accounting of persons with Down syndrome (DS) has remained elusive because no population-based registries exist in the United States. The purpose of this study

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

Author: Alexander, Petri, Ding, Wandel, Khwaja, & Foskett - 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

Catatonia in Down Syndrome: A Treatable Cause of Regression

Author: Ghaziuddin, Nassiri, & Miles (2015) - Neuropsychiatric Disease and Treatment

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

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

Health Watch Table - Down Syndrome

Author: Developmental Disabilities Health Care Toolkit Advisory Committee - Toolkit for Primary Care Providers

The health watch table linked below contains recommendations for a number of areas of health for people with Down syndrome including otolaryngology, dental, cardiovascular, sleep, respiratory, gastroi

The Guide to Good Health for Teens & Adults with Down Syndrome

Author: Brian Chicoine, MD & Dennis McGuire, PhD - Book (2010)

Publisher's Book Description: The authors of the bestselling  Mental Wellness in Adults with Down Syndrome  turn their attention to the physical health of teens and adults wi

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