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

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Duration: 27 ms, Number of Results: 31

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Keratoconus in People with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We received a question about treatment of keratoconus in people with Down syndrome.  What is keratoconus? Keratoconus is an eye condition in which the cornea (the clear part in the front of t

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Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus

Author: Dimopoulos et al. - Circulation (2023)

Abstract Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, pre

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Regression in Persons with Down Syndrome

Author: Down Syndrome Medical Interest Group - USA - Current Consensus Update for Families

Regression in Persons with Down Syndrome: Current Consensus Update for Families   In January 2023, the Down Syndrome Medical Interest Group - USA (DSMIG-USA) shared a consensus update for fam

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Acrocyanosis

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is acrocyanosis? Acrocyanosis is the bluish discoloration of the extremities (usually the hands and/or feet) due to decreased oxygen being delivered to those areas. The small blood vessels in the

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Decline in Skills and Regression in Adolescents and Adults with Down Syndrome Webinar Recording (8/31/2022)

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

The video below is a recording of a webinar presented by Brian Chicoine, MD of the Adult Down Syndrome Center. Individuals with Down syndrome may experience decline in skills for many reasons

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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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Electroconvulsive Therapy, Catatonia, and Regression in People with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Electroconvulsive therapy (ECT) is a treatment that involves sedating an individual with anesthesia and then inducing a seizure with a short electrical stimulation of the brain (more information can b

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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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Hearing Loss in Adults with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Hearing loss is more common in people with Down syndrome (DS) of all ages. Hearing loss  is typically divided into three categories:  Conductive . This involves the outer and middle

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Evaluation of Upper Airway Stimulation for Adolescents with Down Syndrome and Obstructive Sleep Apnea

Author: Yu et al. (2022) - JAMA Otolaryngology-Head & Neck Surgery

Abstract Importance :  Patients with Down syndrome have a high incidence of persistent obstructive sleep apnea (OSA) and limited treatment options. Upper airway hypoglossal stimulation has be

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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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Low Heart Rate and Blood Pressure

Author: Brian Chicoine, MD - "Ask Dr. Chicoine" LuMind IDSC Foundation

Blood pressure and heart rates/pulses that are on the lower end of normal or even a little lower than normal are common findings in people with Down syndrome (see this article on hypertension

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My ECG/EKG

Author: Adult Down Syndrome Center

This visual explains what happens when you get an ECG or EKG.

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When Veins Don't Work

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is the vascular system? Our vascular system includes blood vessels (including veins, arteries, and smaller blood vessels) as well as the heart. Arteries carry blood away from the heart towards th

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Surgery to Correct Eye Crossing (Strabismus)

Author: Brian Chicoine, MD - "Ask Dr. Chicoine" LuMind IDSC Foundation

We were asked about recurrence of strabismus that had been corrected by surgery in childhood. Strabismus is crossing of the eyes. The eyes of an individual with strabismus are not lined up properly an

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Possible Causes of Regression in People with Down Syndrome during the COVID-19 Pandemic

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We received a question about a man with Down syndrome in his late 30s. His family shared that he developed catatonia, was hearing people speaking in his head, and lost a significant amount of weight.

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Regression in Down Syndrome Support Group

Author: Eileen Quinn, MD - Moderator

The link below takes you to a closed Facebook page for families, caregivers, and professionals who support individuals with Down syndrome who have experienced or are experiencing regression. If you cl

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Heart Disease in Adults with Down Syndrome Between 1996 and 2016

Author: Fitzpatrick et al. - Journal of the American Board of Family Medicine (2020)

Abstract Purpose:  To describe demographic factors and calculate prevalence of heart disease-related conditions among the adult Down syndrome (DS) sample population and to compare demographic

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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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Refusal to Eat Solid Foods

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We received a question about a person with Down syndrome who was refusing to eat solids. He was found to have dental disease. He needed several fillings and had a couple baby teeth removed. The dentis

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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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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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Vasovagal Syncope (Fainting)

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is vasovagal syncope?  Vasovagal syncope is what we commonly think of as fainting in response to emotional upset or pain. Chen-Scarabelli and Scarabelli (2004) define it as “a

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Vision in Adults with Down Syndrome

Author: Lalithasree Chintam, MD - Family Medicine Resident, Advocate Lutheran General Hospital

People with Down syndrome (DS) experience many of the common eye problems that people without DS experience. Some people with DS experience these common eye problems more frequently and/or at an earli

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