[{"@context":"https:\/\/schema.org\/","@type":"Article","@id":"https:\/\/share-dev.upmc.com\/2021\/01\/10-facts-about-down-syndrome\/#Article","mainEntityOfPage":"https:\/\/share-dev.upmc.com\/2021\/01\/10-facts-about-down-syndrome\/","headline":"10 Facts You Should Know About Down Syndrome","name":"10 Facts You Should Know About Down Syndrome","description":"Down syndrome (DS) affects about 6,000 newborns each year. Find out some interesting facts that might surprise you about this chromosomal condition.","datePublished":"2021-01-26","dateModified":"2023-06-08","author":{"@type":"Organization","@id":"https:\/\/www.upmc.com\/","name":"UPMC","url":"https:\/\/www.upmc.com\/","sameAs":"https:\/\/share-dev.upmc.com\/upmc\/","parentOrganization":"UPMC"},"publisher":{"@type":"Organization","name":"UPMC HealthBeat","logo":{"@type":"ImageObject","@id":"https:\/\/share-dev.upmc.com\/wp-content\/uploads\/2019\/04\/UPMC-HealthBeat-Logo.png","url":"https:\/\/share-dev.upmc.com\/wp-content\/uploads\/2019\/04\/UPMC-HealthBeat-Logo.png","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/share-dev.upmc.com\/wp-content\/uploads\/2021\/01\/iStock-1163992018.jpg","url":"https:\/\/share-dev.upmc.com\/wp-content\/uploads\/2021\/01\/iStock-1163992018.jpg","height":325,"width":754},"url":"https:\/\/share-dev.upmc.com\/2021\/01\/10-facts-about-down-syndrome\/","about":["Living and Wellness","Pediatrics"],"wordCount":1179,"articleBody":"Down syndrome (DS) is a condition in which the person has an extra chromosome. Check out this list of 10 facts to learn more about Down syndrome.\u00a0What is Down Syndrome?\u00a0DS is the most common chromosomal condition diagnosed in the United States.\u00a0People with DS are born with an extra copy of chromosome 21, which gives them a total of 47 chromosomes. Nobody knows for sure why it happens, but we know that the extra chromosome is usually present in every one of the trillions of cells in their bodies. For that reason, DS is often referred to as \u201ctrisomy 21,\u201d meaning three copies of chromosome 21.\u00a0Down syndrome is an autosomal recessive condition, meaning it is passed down by the mother and\/or father but is not shown in the parents.\u00a0Facts About Down Syndrome\u00a0 Down syndrome occurs in approximately one in 700 births.DS is the most common chromosomal condition diagnosed in the United States. Around 6,000 babies \u2014 or one in 700 \u2014 are born with DS every year.\u00a0 There are three types of Down syndrome.Trisomy 21: In 95% of cases, babies born with DS have one extra copy of chromosome 21, giving them three total.\u00a0Translocation: In 3% of cases, a partial or whole chromosome is attached (translocated) to a different chromosome rather than being a separate chromosome 21.\u00a0Mosaic: In about 2% of cases, some of the person\u2019s cells have three copies of chromosome 21, but other cells have two copies. Children with mosaic Down syndrome have fewer characteristics of Down syndrome.\u00a0 Down syndrome has been depicted in historical paintings as far back as the 15th and 16th centuries.Down syndrome is not new \u2014 in fact, the first evidence of its existence dates back 2,500 years. The facial features of DS are found in some ancient pottery and paintings. The syndrome is named after John Langdon Down, an English doctor who published a clinical description in 1866.\u00a0 Prenatal screening for Down syndrome is available.Doctors use maternal blood samples and ultrasounds to detect DS in the early stages of pregnancy. Since the condition is more likely in pregnant women age 35 and older, screening tests are commonly recommended for that age group. If a screening test shows signs of possible Down syndrome, more invasive prenatal diagnostic tools \u2014 such as amniocentesis and chorionic villus sampling \u2014 can diagnose or confirm DS.\u00a0Babies also can be diagnosed with DS after birth. A health care provider performs a physical exam that looks for common physical characteristics of the condition. To confirm diagnosis, a sample of the baby\u2019s blood will be sent to a lab for testing.\u00a0 Other health problems can occur with Down syndrome.While Down syndrome affects every person differently, people with DS are at a higher risk for certain health issues, such as:\u00a0Hearing problems: Conductive hearing loss is the most common, which can be caused by an inner ear infection and be treated with ear tubes. Sensorineural Hearing Loss is less common and usually permanent.\u00a0Eye issues: Such as cataracts and other vision problems.\u00a0Ear infections: Upper repertory tract infections, which predisposes chronic ear infections are more likely in children with DS. The facial anatomy of DS also predisposes chronic ear disease.\u00a0Congenital heart defects: Three of the most common heart conditions seen in children with DS are atrioventricular septal defect, patent ductus arteriosus, and tetralogy of Fallot.\u00a0In adulthood, potential health problems include:\u00a0Sleep apnea: People with DS are more likely to have sleep apnea due to their facial structure, narrow airways to the nose and throat, and low muscle tone.\u00a0Thyroid disease: Between 39-61% of all adults with DS are thought to have thyroid disease, the most common being hypothyroidism which can lead to slow thinking, irritability, changing weight, and tiredness.\u00a0Earlier onset of Alzheimer’s disease: According to the National Down Syndrome Society, around 30% of adults with DS 50+ have Alzheimer’s disease.\u00a0 While every person with Down syndrome is different, some characteristics are common.\u00a0People with Down syndrome have similar physical features and characteristics because of the extra genetic material that affects growth of the skull, bone, cartilage, and connective tissue in the head and face. Some of these characteristics include:\u00a0\u00a0Delays in development.\u00a0Hypotonia (low muscle tone).\u00a0Almond-shaped eyes.\u00a0A flat nasal bridge.A short neck.\u00a0Small ears.\u00a0A small chin.\u00a0Small feet and hands with short fingers.\u00a0Shorter height.\u00a0 There are health care guidelines in place to guide primary care providers to effectively care for people with DS.The American Academy of Pediatrics has developed health care guidelines to help health care professionals and families provide proper preventive care. By following these guidelines, many medical conditions can be treated early or even prevented. Health care guidelines for adults with Down syndrome will be available soon.\u00a0 The family and personal impact of having a child with Down syndrome is overwhelmingly positive.Studies on the impact of DS on families show that 96% of parents did not regret having a child with Down syndrome, while 96% of siblings wouldn\u2019t trade their sibling with Down syndrome for a sibling without it. And 99% of people with Down syndrome say that they are happy with their lives.\u00a0 The life expectancy for people living with Down syndrome continues to increase.In the 1960s, the average down syndrome life expectancy for children was age 10. Today, that number is age 60 and higher, thanks to new therapies and medical care that improve quality of life for people with DS.\u00a0 People with DS are living higher quality lives than ever before, thanks to appropriate medical care, supportive therapies, and educational options.People with DS benefit from medical care options that were not available years ago. From speech therapy, physical therapy, and occupational therapy to inclusive educational environments, people with DS have more opportunities than ever before.\u00a0\u00a0Thanks to proper medical support and care, teenagers with Down syndrome are now more likely to:\u00a0Have their own bedroom.\u00a0Dress and undress independently.\u00a0Bathe and dry themselves.\u00a0Eat and drink independently, including some meal preparation.\u00a0Adults with Down syndrome have also been able to:\u00a0Live independently.\u00a0Get married.\u00a0Maintain a job.\u00a0Drive a car.\u00a0Some adults with DS have broken barriers and achieved many milestones never thought possible before, such as:\u00a0Owning and operating their own restaurant.\u00a0Modeling professionally.\u00a0Acting in movies.\u00a0Receiving a university degree.\u00a0Playing an instrument at Carnegie Hall.\u00a0Designing a line for London Fashion Week.\u00a0 Editor's Note: This article was originally published on January 26, 2021, and was last reviewed on June 8, 2023.Sourceshttps:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5125364\/https:\/\/jbiomedsci.biomedcentral.com\/articles\/10.1186\/s12929-015-0138-yhttps:\/\/www.cdc.gov\/ncbddd\/birthdefects\/downsyndrome.html1Having a son or daughter with Down Syndrome: Perspectives from mothers and fathers. Skotko BG, Levine SP, Goldstein R.Am J Med Genet A. 2011 Oct;155A(10):2335-47. doi: 10.1002\/ajmg.a.34293. Epub 2011 Sep 13.PMID: 219159892Having a brother or sister with Down syndrome: Perspectives from siblings. Skotko BG, Levine SP, Goldstein R.Am J Med Genet A. 2011 Oct;155A(10):2348-59. doi: 10.1002\/ajmg.a.34228. Epub 2011 Sep 9.PMID: 219102443Self-perceptions from people with Down syndrome. Skotko BG, Levine SP, Goldstein R.Am J Med Genet A. 2011 Oct;155A(10):2360-9. doi: 10.1002\/ajmg.a.34235. Epub 2011 Sep 9.PMID: 21910246 "},{"@context":"https:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"name":"2021","item":"https:\/\/share-dev.upmc.com\/2021\/#breadcrumbitem"},{"@type":"ListItem","position":2,"name":"01","item":"https:\/\/share-dev.upmc.com\/2021\/\/01\/#breadcrumbitem"},{"@type":"ListItem","position":3,"name":"10 Facts You Should Know About Down Syndrome","item":"https:\/\/share-dev.upmc.com\/2021\/01\/10-facts-about-down-syndrome\/#breadcrumbitem"}]}]