Down SyndromeSymptoms, Doctors, Treatments, Advances & More
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. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Down Syndrome, Alzheimer's Disease, Hypothyroidism, and Cellulitis. Dr. Chicoine is board certified in American Board Of Family Medicine. Dr. Chicoine is currently accepting new patients.
Alberto Lleo practices practicing medicine in Madrid, Spain. Mr. Lleo is rated as an Elite expert by MediFind in the treatment of Down Syndrome. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Dementia, Alzheimer's Disease, Down Syndrome, and Movement Disorders.
Mary Stephens is a primary care provider, practicing in Family Medicine and Pediatrics in Philadelphia, Pennsylvania. Dr. Stephens is rated as a Distinguished provider by MediFind in the treatment of Down Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Down Syndrome, Autism Spectrum Disorder, Cerebral Palsy, and Moebius Syndrome. Dr. Stephens is board certified in Family Practice. Dr. Stephens is currently accepting new patients.
Summary: This protocol describes a phase 2, double-blind, randomized, placebo-controlled clinical trial for Janus kinase (JAK) inhibition in Down syndrome (DS). This trial will evaluate the safety and efficacy of a 6-month treatment with the JAK1/3 inhibitor tofacitinib in individuals ages 6-22 (inclusive) with DS. There will be two main arms for this study: a treatment arm and a placebo control arm. Parti...
Summary: Down syndrome is the most common genetic cause of intellectual disability. People with Down syndrome often have obstructive sleep apnea (OSA), a condition where people have difficulties with breathing while asleep. OSA can lead to poor sleep, worse quality of life, behavior problems and more difficulties with thinking (cognitive impairment). Current treatments for OSA in people with Down syndrome ...
Published Date: June 01, 2020
Published By: National Institutes of Health