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Down syndrome

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Leaflet downsyndrome. Down syndrome. Disability; intellectual; chromosomal; disorder; Down; syndrome; Trisomy; 21; genetic; chromosome; gene; Down's; Downs; handicap; mental; retardation; global; developmental; delay; speech; pathology; therapy; intellectual ; Down syndrome is caused by an extra copy of chromosome 21 inside each of the body's cells. Down syndrome is a genetic condition. This means that medical specialists can tell that children have Down syndrome by checking their chromosomes (gene clusters). Contents Down syndrome is named after Dr John Langdon Down who first identified the syndrome in 1866. Down syndrome is caused by an extra copy of chromosome 21 inside each of the body's cells. Down syndrome occurs in all races and cultures. From birth, children with Down syndrome will need special services such as physiotherapy and speech pathology, to help their development and learning.

Children with Down syndrome are slower with learning, but they go on learning for the whole of their life. South Australia. Kids with Down Syndrome | Cancer Stories | Burn Victim Stories | Just Like You. How we can help you. Local Support Groups - Downs Syndrome Association. National Down Syndrome Society - The National Advocate for People with Down Syndrome Since 1979. Down's syndrome - Treatment.

There is no "cure" for Down's syndrome, but there is much that can be done to help someone with the condition lead a healthy, active and more independent life. This includes: good parenting skills and an ordinary family life education and support groups to provide information and help to parents, friends and families early intervention programmes to provide support for children and parents access to good healthcare, including a range of different specialists These are described in more detail below.

Emotional impact In some cases, it may not be apparent a baby has Down's syndrome until after they are born. Some families accept their baby's diagnosis of Down's syndrome quickly, while others need time to adjust. If you have recently found out your child has Down's syndrome, you may feel a range of emotions, such as fear, sadness or confusion. There is no right or wrong way to react. Many parents find it reassuring to learn more about Down's syndrome and talk to other parents. Family life. What are common treatments for Down syndrome? There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations.1 People with Down syndrome can receive proper care while living at home and in the community.

A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers. All professionals who interact with children with Down syndrome should provide stimulation and encouragement. People with Down syndrome are at a greater risk for a number of health problems and conditions than are those who do not have Down syndrome.

Many of these associated conditions may require immediate care right after birth, occasional treatment throughout childhood and adolescence, or long-term treatments throughout life. Early Intervention and Educational Therapy. Diagnosis of Down Syndrome During Pregnancy. Prenatal Diagnosis While Down syndrome is often diagnosed shortly after birth, it is also increasingly being diagnosed during pregnancy (prenatally) due to abnormal ultrasound (sonogram) findings, an abnormal result on a blood test done mom (maternal serum screening test), or by amniocentesis or chorionic villi sampling (CVS) testing.

Chorionic villi sampling or CVS is a test done on the placenta between 10 and 12 weeks of pregnancy Screening versus Diagnostic Testing Both ultrasound and maternal serum tests are screening tests. In contrast, amniocentesis and CVS are considered diagnostic tests. Ultrasound findings An ultrasound, also know as a sonogram, is a test done during pregnancy which uses sound waves to generate a picture or image of the fetus. Some of these subtle signs include a decrease in femur length (a bone in the leg), an increase in the skin behind the neck (called nuchal translucency), or choroid plexus cysts (cysts in a section of the brain that produces spinal fluid).

Down's syndrome - Characteristics. Down's syndrome can affect a person in many different ways and each individual will experience different social and healthcare needs. Physical appearance People with Down's syndrome share a number of physical characteristics. Not everyone will have all of them, but they may include: reduced muscle tone which results in floppiness (hypotonia) a small nose and flat nasal bridge a small mouth eyes that slant upwards and outwards a big space between the first and second toe (sandal gap) broad hands with short fingers their palm may have only one crease across it (palmar crease) a below average weight and length at birth However, it is important to note that people with Down's syndrome do not all look the same and will share physical features with their parents and family.

Delayed development All children with Down's syndrome have some degree of learning disability and delayed development, but this varies widely between individual children. What are common symptoms of Down syndrome? Skip sharing on social media links The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. Physical Symptoms Common physical signs of Down syndrome include1,2: Decreased or poor muscle tone Short neck, with excess skin at the back of the neck 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) Wide, short hands with short fingers A single, deep, crease across the palm of the hand A deep groove between the first and second toes In addition, physical development in children with Down syndrome is often slower than development of children without Down syndrome.

For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. Bull, M. Down's syndrome - Causes. Down's syndrome is a genetic condition that occurs as a result of an extra chromosome (chromosome 21). Chromosomes The human body is made up of cells that contain genes. Genes are grouped in thread-like structures called chromosomes. Chromosomes are blocks of deoxyribonucleic acid (DNA) and contain detailed genetic instructions responsible for a wide range of factors, including: how the body's cells develop the colour of the eyes the sex of a baby Usually, cells contain 46 chromosomes.

In people with Down's syndrome, all or some of the cells in their bodies contain 47 chromosomes, as there is an extra copy of chromosome 21. Types of Down's syndrome There are three forms of Down's syndrome, although the effects of each type are usually the same. Trisomy 21 is the most common type and affects around 94% of people with Down's syndrome. Male carriers have around a 1 in 35 chance of passing on the condition female carriers have around a one in eight chance of passing on the condition.

Down's syndrome. Down's syndrome, also known as Down syndrome, is a genetic condition that typically causes some level of learning disability and a characteristic range of physical features. Most babies born with Down's syndrome are diagnosed with the condition after birth and are likely to have: reduced muscle tone leading to floppiness (hypotonia) eyes that slant upwards and outwards their palm may have only one crease across it (palmar crease) a below average weight and length at birth Although children with Down's syndrome share some common physical characteristics, they do not all look the same. A child with Down's syndrome will look more like their mother, father or other family members than other children with the syndrome.

People with Down's syndrome also vary in personality and ability. Everyone born with Down's syndrome will have a degree of learning disability. The level of learning disability will be different for each individual. Read more about the characteristics of Down's syndrome. Down Syndrome. Listen How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.

Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially "floppy. " Though this can and often does improve over time, most children with DS typically reach developmental milestones — like sitting up, crawling, and walking — later than other kids. At birth, kids with DS are usually of average size, but they tend to grow at a slower rate and remain smaller than their peers. For infants, low muscle tone may contribute to sucking and feeding problems, as well as constipation and other digestive issues.

Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet teaching. Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment.