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)
The characteristics of Down syndrome include low muscle tone, short stature, a flat nasal bridge, and a protruding tongue. People with Down syndrome have a higher risk of some conditions, including Alzheimer's disease and epilepsy.
Kids with Down syndrome often have similar physical features, such as a flat facial profile, an upward slant to the eyes, small ears, and a tongue that tends to stick out. Low muscle tone (called hypotonia) is also common in kids with Down syndrome but is less obvious as they get older.
Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.
Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate.
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 symptoms vary from person to person and can range from mild to severe. No matter how severe the condition is, people with Down syndrome have a widely-recognized appearance.
For example, children with Down syndrome show higher rates (than typically developing children) of attention problems, social withdrawal, noncompliance, and compulsions (such as arranging objects and repeating certain actions) [2, 3] , as well as high rates of self-talk .
Mosaicism, or mosaic Down syndrome, is diagnosed when there is a mixture of two types of cells. Some have the usual 46 chromosomes, and some have 47. Those cells with 47 chromosomes have an extra chromosome 21. Mosaicism is usually described as a percentage.
Heart defects — Approximately half of all babies with Down syndrome are born with (often repairable) heart defects. Usually, these defects affect the walls separating the four chambers of the heart.
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)
Today the average lifespan of a person with Down syndrome is approximately 60 years. As recently as 1983, the average lifespan of a person with Down syndrome was 25 years. The dramatic increase to 60 years is largely due to the end of the inhumane practice of institutionalizing people with Down syndrome.
Abstract. Down syndrome is the most common autosomal chromosome anomaly with several medical abnormalities and intellectual disability, occurring in about of 1:1,000 to 1:1,100 infants. Many pregnancies in women with Down syndrome produce children both with normal and with trisomy 21, whereas males are infertile.
Some of the children with Mosaic Down syndrome that we know do not actually look as if they have Down syndrome - the usual physical features are not obvious. This raises some important and difficult social issues and identity issues for both parents and children, which parents have discussed with us.
Typically, these children have a much harder time learning to talk (expressive language) than with understanding what they hear (receptive language). On average, children with Down syndrome start using words around 16 months of age—about 6 months later than other children.
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.
Adults with Down syndrome are at increased risk of depression, hypothyroidism, and Alzheimer dementia (AD) as they age, all of which can cause behaviour changes.
As adults with Down syndrome grow older, there is increased risk of experiencing certain common mental health disorders like depression, anxiety, obsessive compulsive disorder and behavioral disturbances. A sudden or abrupt change in mood or behavior patterns warrants further investigation.
An important study in the journal of mental health research in intellectual disabilities shows that children with Down syndrome demonstrate increased behavioral issues compared with their typical peers. Early intervention and a development strategy can help.
In the majority of cases, the extra copy of chromosome 21 comes from the mother in the egg. In a small percentage (less than 5%) of cases, the extra copy of chromosome 21 comes from the father through the sperm.
About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
In almost all cases, Down's syndrome does not run in families. Your chance of having a baby with Down's syndrome increases as you get older, but anyone can have a baby with Down's syndrome. Speak to a GP if you want to find out more.