An individual with Down syndrome inherits all or part of an extra copy of Chromosome 21. Symptoms associated with the syndrome include mental retardation, distinctive facial characteristics, and increased risk for heart defects and digestive problems, which can range from mild to severe.
Potentially serious complications — The most serious complications of Down syndrome include heart defects, blood disorders that can include leukemia (cancer of the blood), and immune system problems. Heart defects — Approximately half of all babies with Down syndrome are born with (often repairable) heart defects.
Physical Symptoms
Flattened facial profile and nose. Small head, ears, and mouth. Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye. White spots on the colored part of the eye (called Brushfield spots)
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The most common musculoskeletal effects of Down syndrome include weak muscle tone (hypotonia) and ligaments that are too loose (ligament laxity). This leads to excessive joint flexibility.
Down syndrome patients have a higher incidence of endocrine problems (associated with thyroid, adrenal and pituitary glands) than the general population. Around 1 in 10 people with Down syndrome have problems with their thyroid gland.
The most common heart defect in children with Down syndrome is an atrioventricular septal defect (AVSD), a large hole in the center of the heart. But other heart defects are possible and can occur, including: Atrial septal defect. Ventricular septal defect.
They often have mild to moderate intellectual disability and may have specific challenges with attention span, verbal memory, and expressive communication. Behavioral problems such as stubbornness, impulsivity, and temper tantrums may be more common in children with Down syndrome.
Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS.
Adults with Down syndrome are also prone to a wide range of gastrointestinal problems including reflux, obesity, constipation and diarrhoea.
The upper airway in individuals with Down's syndrome is narrower and there are also some structural differences in the lower respiratory tract and within the lung tissues. These differences combined with low muscle tone and a higher prevalence of obesity may predispose them to developing infections.
Most individuals with Down syndrome have mild (IQ: 50–69) or moderate (IQ: 35–50) intellectual disability with some cases having severe (IQ: 20–35) difficulties. Those with mosaic Down syndrome typically have IQ scores 10–30 points higher than that.
Down syndrome is also associated with autonomic nervous system dysfunction, a comorbidity that is overlooked in discussions of perioperative care and is described thus far in adults. Autonomic nervous system function or dysfunction may explain the phenotypical features of the perioperative challenges listed above.
Although most of the research into nervous system abnormalities in Down syndrome has focused on the central nervous system (CNS), those with Down syndrome are known to have dysfunction of the peripheral nervous system (PNS) as well.
Children with Down syndrome typically learn to walk with their feet wide apart, their knees stiff and their feet turned out. They do so because hypotonia, ligamentous laxity and weakness make their legs less stable.
People with Down syndrome can expect to live to 60
In the 1940s, a child with Down syndrome had a life expectancy of 12 years. These days, their life expectancy is 60 years and a baby born with Down syndrome could live into their 80s — in line with the general population.
Many babies and young children with Down syndrome are late to reach the early motor milestones such as grasping, rolling, sitting, standing and walking. There is wide variability in progress, with some reaching these milestones as early as typically developing infants and some being particularly slow in achieving them.
Misconception: People who have Down syndrome cannot have children. Reality: It's true that a person with Down syndrome may have significant challenges in rearing a child. But women who have Down syndrome are fertile and can give birth to children.
Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.
Children with Down syndrome tend to have relatively narrow nasal passages. As a result, some children may be more prone to coughs and colds than other children, especially in early childhood and at times when there is an increase in mixing with other children, such as starting playgroup, pre-school or primary school.
Although women older than 35 years of age make up a small portion of all births6 in the United States each year, about nearly one-half of babies with Down syndrome are born to women in this age group.
Nose. Children with Down syndrome are predisposed to chronic nasal congestion, nasal drainage and more frequent sinus infections, partly due to a smaller nose and nasal sinuses. The adenoids are found in the back of the nose and as they naturally grow can block the smaller nasal passage, increasing nasal congestion.