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

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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

Hypoglycemia (Low Blood Sugar)

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

What is hypoglycemia? Hypoglycemia is the medical term for low blood sugar or low glucose. Blood sugar or glucose levels can be measured with a blood test. Healthcare providers make the diagnosis of h

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

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

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

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

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

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

Vitamin B12 Deficiency

Author: Brian Chicoine, MD - Adult Down Syndrome Center

Vitamin B12 deficiency is an issue that we often check for in individuals who receive medical care at the Adult Down Syndrome Center. We usually get enough vitamin B12 from the foods we eat. Vitamin B

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.

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

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

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

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

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-

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

Normal Abnormal Lab Values

Author: Hannah Graham, MD - Advocate Lutheran General Hospital

When running routine blood tests, sometimes abnormal values are flagged by the lab or computer system. Some of these values, while outside of the normal range, are still typical and/or acceptable for

Cerumen Impaction (Ear Wax)

Author: Shaza Khan, DO - Family Medicine Resident, Advocate Lutheran General Hospital

What is cerumen? Cerumen impaction? Cerumen is ear wax. Cerumen impaction is the buildup of ear wax causing a blockage in your ear canal. What are the signs and symptoms of cerumen impaction? Ear full

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

Low White Blood Cell Count

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

What is the significance of a low white blood cell count (neutropenia)? We commonly find that our adult patients with Down syndrome have a mildly reduced white blood cell count. What does it mean? Wha

Elevated Globulin

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

Globulins are antibodies (found and measured in the blood) that are elevated in inflammatory conditions, infections, and some cancers. We often find the globulin level to be elevated in people with Do

MCH and MCV

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

We received a question about MCH and MCV. The question concerned an individual with Down syndrome who had a high MCH and MCV. MCH is mean corpuscular hemoglobin (the average amount of hemoglobin in th

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