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

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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

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

Cancer Screening in Adults with Down Syndrome: A Proposal

Author: Rethore et al. - European Journal of Medical Genetics (2019)

Abstract Background : The specific distribution of cancers in Down syndrome (DS) calls into question the validity of screening policies for cancer surveillance as implemented for the general populatio

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-

Benefits and Harms of Mammography Screening for Women with Down Syndrome

Author: Alagoz et al. - Journal of General Internal Medicine (2019)

Abstract Background:  Women with Down syndrome have a lower breast cancer risk and significantly lower life expectancies than women without Down syndrome. Therefore, it is not clear whether m

Decline in Skills - Webinar (2019)

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

ARCHIVED:  This resource has been archived. Please see the Decline in Skills and Regression section of our Resource Library for updated resources.  The link below takes you to a reco

The Pattern of Malignancies in Down Syndrome and Its Potential Context with the Immune System

Author: Satge & Seidel - Frontiers in Immunology (2018)

Abstract The immune surveillance theory of cancer posits that the body's immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the i

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

Colon Cancer Screening for People with Down Syndrome

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

Is colon cancer screening recommended for people with Down syndrome? Please note that this handout discusses screening colonoscopies (i.e. colonoscopies performed to identify pre-symptomatic or unreco

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

Diabetes in Adults with Down Syndrome

Author: Chuan-Li Fan, DO - Family Medicine Resident, Advocate Lutheran General Hospital

Diabetes mellitus (DM) is a disease marked by the inability of the body to regulate sugars through insulin. Either the body does not produce enough insulin in the pancreas to help the body absorb suga

Mammograms

Author: Sravanthi Paritala, MD - Family Medicine Resident, Advocate Lutheran General Hospital

What is a mammogram? A mammogram is a special type of x-ray that looks for breast cancer, which is the most common cancer among women. The United States Preventive Services Task Force (USPSTF) recomme

Hypothyroidism

Author: Ima V. Jonkheer, DO - Family Medicine Resident, Advocate Lutheran General Hospital

Hypothyroidism is a common issue that affects many people with Down syndrome. The thyroid hormones play many important roles in our bodies including influencing our metabolism, production of necessary

Thyroid, Weight, and Metabolism

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

We were sent a question about thyroid, weight, and metabolism in people with Down syndrome. People with Down syndrome more commonly have hypothyroidism (underactive thyroid), one symptom of which is w

Low Risk of Solid Tumors in Persons with Down Syndrome

Author: Hasle et al. - Genetics in Medicine (2016)

Abstract Purpose:  The aim of this study was to investigate cancer incidence in a large cohort of persons with Down syndrome.  Methods:  Down syndrome was identified from th

Breast Cancer Screening for Women with Down Syndrome

Author: Chicoine et al. - Intellectual and Developmental Disabilities (2015)

Abstract This study examined mammogram reports of women with Down syndrome (DS) treated in the largest medical facility specifically serving adults with DS in the United States. Records of 684 women a

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

Ask the Doctor: Thyroid Testing

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

Question: Recently, my daughter’s annual thyroid blood work came back as follows: TSH 9.74 (normal: 0.3-5.0), T3 27.8 (normal: 25.0-35.0), Free T4 1.7 (normal: 1.0-4.3), and T4 6.2 (normal:

Hypothyroidism Presenting as Severe Psychological and Mental Dysfunction

Author: Chicoine

This is an article written by Brian Chicoine in Success Stories in Developmental Disabilities. Vol II. edited by Dale Antanitus and published in 1993.

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