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

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Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

Author: Altuna, Gimenez, & Fortea - Journal of Clinical Medicine (2021)

Abstract Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living

Stroke and Vascular Disease in Down Syndrome Webinar Recording

Author: Jonathan Santoro, MD - Director of Neuroimmunology and Demyelinating Disorders Program at Children's Hospital Los Angeles, Assistant Professor of Neurology at the Keck School of Medicine at the University of Southern California

The webinar below was hosted by the Down Syndrome Association of Los Angeles. The topic was "Stroke and Vascular Disease in Down Syndrome: How to Identify and Prevent." The presenter

Addressing Common Health Conditions in Adults with Down Syndrome Webinar Slides (2/10/2021)

Author: Brian Chicoine, MD

This document contains the slides from a webinar on Common Health Conditions in Adults with Down Syndrome presented by Brian, Chicoine, MD on February 10, 2021.

Addressing Common Health Conditions in Adults with Down Syndrome Webinar Recording (2/10/2021)

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

The video below is a recording of a webinar presented by Brian Chicoine, MD on February 10, 2021. Dr. Chicoine is the co-founder and medical director of the Adult Down Syndrome Center. In this present

Tourette Syndrome and Down Syndrome

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

Tourette syndrome (TS) is a hereditary, chronic neuromuscular condition consisting of motor and vocal tics. Tics are sudden, involuntary, brief, repetitive movements and vocalizations.  Motor

Medical Care of Adults with Down Syndrome: A Clinical Guideline

Author: Tsou et al. - JAMA (2020)

Abstract Importance:  Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the u

Global Medical Care Guidelines for Adults with Down Syndrome

Author: Medical Care Guidelines for Adults with Down Syndrome Workgroup - Global Down Syndrome Foundation

On October 20, 2020, the Global Medical Care Guidelines for Adults with Down Syndrome were published in the Journal of the American Medical Association (JAMA)  in an article called "

Co-Occurring Medical Conditions in Adults with Down Syndrome. Part II.

Author: Capone et al. - American Journal of Medical Genetics Part A (2020)

Abstract: Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance wi

Testicular Cancer

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

While many solid tumor cancers are  less  common in people with Down syndrome compared to people without Down syndrome, testicular cancer is one type of solid tumor cancer that is&am

Cancer Screening in Adults with Down Syndrome: A Proposal

Author: Rethore, Rousse, Satge - 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, 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-

Breast Cancer and Breast Cancer Screening for Women with Down Syndrome

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

Recommendations for breast cancer screening have varied over time and continue to vary. Organizations have different recommendations for when women should start being screened for breast cancer and ho

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

Seizures in People with Down Syndrome and Alzheimer's Disease

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

We were sent a question about seizures in a person with Down syndrome who developed Alzheimer’s disease. The individual continued to experience seizures despite being treated with l

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

Seizures

Author: Aashima Ghai, DO - Family Medicine Resident, Adult Down Syndrome Center

Definition: Seizures are waves of abnormal electrical activity in the brain. The brain has multiple nerve cells that create and receive electrical impulses which help the cells communicate with each o

Prostate Cancer Screening in Men with Down Syndrome

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

Should men with Down syndrome (DS) undergo prostate specific antigen (PSA) blood testing for prostate cancer screening? The United States Preventive Services Task Force (USPSTF) recommends the followi

Psychogenic Non-Epileptic Seizures or Fake Seizures

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

We periodically get asked questions about “fake seizures.” They have also been called “pseudo-seizures” but are now more accurately called non-epileptic seizure

Strokes and Down Syndrome

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

Strokes occur when the blood supply to the brain is compromised, which deprives the brain of needed oxygen and glucose. Strokes can be caused by atherosclerotic disease (a disease in which the inside

Startle Reflex and Myoclonus

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

We were asked a question about increased “startle reflex” in a 30-year-old. Please note: The information below is for educational purposes only and is not intended to serve as a su

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

Co-Occurring Medical Conditions in Adults with Down Syndrome

Author: Capone et al. - American Journal of Medical Genetics Part A (2017)

Abstract: Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) ha

Breast Cancer Screening for Women with Down Syndrome

Author: Chicoine, Roth, Chicoine, & Sulo - 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

Health Care Information for Families of Children with Down Syndrome

Author: American Academy of Pediatrics - Pediatric Health Care Guidelines

The document linked below contains information and guidance about medical issues of children with Down syndrome at various stages of their lives. It was created in July 2013 by the American Academy of

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Please note: The information on this site is for educational purposes only and is not intended to serve as a substitute for a medical, psychiatric, mental health, or behavioral evaluation, diagnosis, or treatment plan by a qualified professional. We recommend you review the educational material with your health providers regarding the specifics of your health care needs.

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