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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

Obstructive Sleep Apnea, Cerebrovascular Disease, and Amyloid in Older Adults with Down Syndrome Across the Alzheimer's Continuum

Author: Lao et al. (2022) - Sleep Advances: A Journal of the Sleep Research Society

Abstract We determined the extent to which obstructive sleep apnea (OSA) is associated with increased cerebrovascular disease and amyloid burden, and the relation of the two processes across clinical

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 pheno

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

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

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

Down Syndrome and Dementia: Advances in the Field

Author: McGlinchey, McCallion, & McCarron - 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

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-

My Health Passport

Author: Florida Center for Inclusive Communities

This health passport can be filled out by individuals with Down syndrome and their families to share information with health care professionals about how they can best support the individual.

Course of Alzheimer Disease in People with Down Syndrome

Author: Chicoine, Dominiak, McGuire, Bilodeau

This is a poster that describes a small chart review study on Alzheimer's disease and Down syndrome done at the Adult Down Syndrome Center.

Down Syndrome and Alzheimer's for Medical Professionals

Author: Brian Chicoine, MD and Dennis McGuire, PhD - Webinar

The link below takes users to a registration page to view a webinar called "Down Syndrome and Alzheimer's for Medical Professionals" that was presented by Brian Chic

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

Clinical Aspects and Biomarkers of Alzheimer's Disease in Down Syndrome

Author: Zis & Strydom - Free Radical Biology & Medicine (September 2017)

Abstract Alzheimer's disease (AD) may affect in excess of 90% of individuals with Down syndrome (DS) after age 60, due to duplication of the APP gene in trisomy of chromosome 21, with neuropat

Dying Well with an Intellectual Disability and Dementia

Author: Service et al. - Journal of Dementia Care (2017)

Abstract:  Collaboration between palliative care, dementia care, hospice provision, and intellectual disability services is required rather than any one of these systems working in isolation.

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

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