Learn About Down Syndrome
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.
Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.
Down syndrome occurs in about 1 in 700 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and approximately 200,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
Advocate Medical Group Adult Down Syndrome
Brian Chicoine is a primary care provider, practicing in Family Medicine in Park Ridge, Illinois. Dr. Chicoine is rated as an Elite provider by MediFind in the treatment of Down Syndrome. His top areas of expertise are Down Syndrome, Alzheimer's Disease, Hypothyroidism, and Cellulitis.
Alberto Lleo practices in Barcelona, Spain. Mr. Lleo is rated as an Elite expert by MediFind in the treatment of Down Syndrome. His top areas of expertise are Dementia, Alzheimer's Disease, Down Syndrome, and Movement Disorders.
Advocate Medical Group Adult Down Syndrome
Hannah Graham is a primary care provider, practicing in Family Medicine in Park Ridge, Illinois. Dr. Graham is rated as a Distinguished provider by MediFind in the treatment of Down Syndrome. Her top area of expertise is Down Syndrome.
Summary: Purpose: This study will test whether 8 weeks of creatine and HMB supplementation can improve muscle strength, body composition, balance, and overall health in people with Down syndrome. Participants will also receive nutrition tips during the study. Who can participate: People with Down syndrome who can perform basic physical tasks. Must provide consent from the participant and legal guardian. Wh...
Summary: Down Syndrome (DS) is characterized by an additional copy of chromosome 21, which also increases risk of Alzheimer's Disease (AD). The investigators' lab found a non-invasive way to remove toxic proteins from the brain in AD mouse models. Remarkably, treated mice also have improved memory on behavioral testing. The investigators then translated this non-invasive method, which uses light and sound ...
Published Date: June 01, 2020
Published By: National Institutes of Health