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

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Attention-Deficit/Hyperactivity Disorder in Individuals with Down Syndrome Video

Author: Joseph Pereira - Harvard Medical School, MassGeneral Hospital for Children

The video below was narrated and presented by Joseph Pereira, a 4th year medical student at Harvard Medical School, as part of his work with the MGH Down Syndrome Program . He shares information about

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

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

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

Sport Preparticipation Screening for Asymptomatic Atlantoaxial Instability in Patients with Down Syndrome

Author: Tomlinson et al. - Clinical Journal of Sport Medicine (2018)

Abstract: Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in ev

Ligamentous Laxity

Author: Peter Waller, DO - Family Medicine Resident, Advocate Lutheran General Hospital

Ligaments are bands of fibrous connective tissue in our body that connect one bone to another bone and provide support to our joints. In people with Down syndrome, these ligaments tend to be loose lea

Atlantoaxial Instability Screening

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

Atlantoaxial instability (AAI) is subluxation or slippage of the first neck vertebrae in relation to the second. It is more common in people with Down syndrome (DS) and there are unique screening cons

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

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

Low Risk of Solid Tumors in Persons with Down Syndrome

Author: Hasle, Friedman, Olsen, & Rasmussen - 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, 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

Recurrent Pneumonia

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

Definition of Pneumonia  (by the Mayo Clinic ) Pneumonia is an infection that inflames the air sacs in one or both lungs. The air sacs may fill with fluid or pus, causing cough with phlegm or

Knee Pain from Patellofemoral Syndrome

Author: Julia Howell, MD - Family Medicine Resident, Advocate Lutheran General Hospital

People with Down syndrome can often have laxity, or looseness, of the ligaments that support joints. The knee is no exception. The patella, or knee cap, attaches to the muscles of the upper and lower

Neurobehavioral Disorders in Children, Adolescents, and Young Adults with Down Syndrome

Author: Capone et al. - American Journal of Medical Genetics Part C (2006)

Abstract: The term dual-diagnosis refers to a person with mental retardation and psychiatric disorder. Most children with Down syndrome (DS) do not have a psychiatric or neurobehavioral disorder. Curr

Spondylolisthesis and Cervical Subluxation

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

We received a question regarding spondylolisthesis. Spondylolisthesis is a slippage of one vertebrae over another. Most commonly this refers to slippage in the lumbar (lower) part of the back. Slippag

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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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