Down syndrome

Down syndrome (DS or DNS), also known as Trisomy 21, is a genetic condition in which the person has an extra copy of chromosome 21. This additional chromosome results in a number of physical and developmental characteristics and some level of intellectual disability. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with down syndrome is 50, equivalent to the mental ability of an 8 or 9-year-old child, but this can vary widely.

The parents of the affected individual are typically genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% of those age 45. The extra chromosome is believed to occur by chance, with no known behavioural activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated. Regular screening for health problems common in down syndrome is recommended throughout the person's life.

There is no cure for down syndrome. Education and proper care have been shown to improve quality of life. Some children with down syndrome are educated in typical school classes, while others require more specialised education. Some individuals with down syndrome graduate from high school, and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 in the developed world with proper health care.

Down syndrome is one of the most common chromosome abnormalities in humans. It occurs in about one per 1,000 babies born each year. In 2015, down syndrome was present in 5.4 million individuals and resulted in 27,000 deaths, down from 43,000 deaths in 1990.


About the disability[edit | edit source]

Down syndrome is a genetic condition in which the person has an extra copy of chromosome 21. This additional chromosome results in a number of physical and developmental characteristics and some level of intellectual disability.

These days, the majority of people growing up with down syndrome have the ability to achieve and participate as valued members of their communities, with varying degrees of support. Support is available for individuals with down syndrome and their families, and for expectant parents who have received a diagnosis of down syndrome.

Chromosomes are the blueprint for the body's development. They are found in every cell in our body and determine our physical and mental characteristics. The usual number of chromosomes is 46 (arranged in 23 matched pairs). People with down syndrome have an extra chromosome 21 in their genetic make-up.

Down syndrome is the most common chromosome disorder and occurs in all races and cultures at around the same rate. Some level of intellectual disability is the only feature common to all people who have down syndrome, although a range of other features are also associated with the condition. These include characteristic physical features and a number of health and development indications.

Types[edit | edit source]

Although we know how down syndrome occurs, we do not yet know why. There are thBulleted list item Trisomy 21 - every cell in the body has an extra chromosome 21. The majority of people (about 95 per cent) with down syndrome have trisomy 21. It is an accident of birth and is not a hereditary not a hereditary condition.

  • Mosaic down syndrome - there is an extra chromosome 21 in some but not all of the cells. While the rest of the cells have the standard genetic composition. Mosaic down syndrome occurs in one to two per cent of people with down syndrome. It can result in milder level of intellectual disability and less obvious physical characteristics than the other forms of down syndrome.
  • Translocation down syndrome - part of chromosome 21 is broken off and is then attached (translocated) onto another chromosome. This can occur before or at conception. This form of down syndrome is also uncommon, occuring in about three to four per cent of classes. In about one third of these cases, one of the child's parents has the same translocation. For this reason, referral to a genetic counselling service is usually recommended.

Genetic tests can show what type of Down syndrome a baby has.

Signs and symptoms[edit | edit source]

There are a number of physical and neurological characteristics associated with down syndrome, although each person with down syndrome may display only a few of these.

The most common physical characteristics include:

  • Eyes - nearly all people with down syndrome have slight upward slant of the eyes. There can also be a small fold of skin on the inside of the eye (epicanthic fold) and small white patches on the ede of the iris of the eye (Brushfield spots).
  • Face - this is often rounded and tends to have a flat profile.
  • Stature - babies with Down syndrome are usually smaller and weigh less at birth than others. Children tend to grow more slowly and are commonly smaller than other children their age. Adults with down syndrome are commonly smaller than in the general population.

Babies with down syndrome reach the same development milestones (such as smiling, sitting up, crawling, walking, talking and toileting) as all babies, but with some degree of delay. Speech and language development is often the area of greatest delay.

Everyone with down syndrome will experience some delay in their development and some level of learning disability, but the extent and specific areas of delay vary from one individual to another. People with down syndrome generally need some support than most other people in order to achieve their potential -- some will need very little support, while others may require a high level of suport. However, most people growing up with down syndrome today will be able to achieve and participate as valued members of their communities.

Causes[edit | edit source]

Down syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual two. The parents of the affected individual are typically genetically normal. Those who have one child with down syndrome have about a 1% risk of having a second child with the syndrome, if both parents are found to have normal karyotypes.

The extra chromosome content can arise through several different ways. The most common cause (about 92-95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. In 1.0 to 2.5% of cases, some of the cells in the body are normal and others have trisomy 21, known as mosaic down syndrome. The other common mechanisms that can give rise to down syndrome include: a Robertsonian translocation, isochromosome, or ring chromosome. These contain additional material from chromosome 21 and occur in about 2.5% of cases. An isochromosome results when the two long arms of a chromosome separate together rather than the long and short arm separating together during egg or sperm development.

Diagnosis[edit | edit source]

Down syndrome is usually recognisable at birth and confirmed by a blood test. A doctor can usually tell if a baby has down syndrome from their physical appearance. Prenatal tests that can help to detect down syndrome in a fetus include:

  • ultrasound scans
  • maternal serum screening
  • amniocentesis
  • chorionic villi sampling

Impact[edit | edit source]

Down syndrome affects, but does not determine, development and achievement in a person. People with down syndrome demonstrate a wide range of capabilities. What happens after birth will be far more important in shaping the outlook for a person with down syndrome than the occurence of the extra chromosome at conception.

These days, children with down syndrome attend childcare settings, pre-schools and primary and high schools alongside other children of their age. Adults with down syndrome attend post-school training, participate in the workforce and lead full lives as productive and valued members of their communities. An increasing number are achieving independent living, with some level of support, within the community.

People with down syndrome often have their abilities and potential underestimated. A person with this condition will achieve in many areas when offered the opportunity and encouraged to do so.

Treatment[edit | edit source]

Management[edit | edit source]

Efforts such as early childhood intervention, screening for common problems, a good family environment and work-related training can improve the development of children with down sydnrome. Education and proper care can improve quality of life. Raising a child with down syndrome is more work for parents than raising an unaffected child. Typical childhood vaccinations are recommended.

Early childhood intervention[edit | edit source]

Health screening[edit | edit source]

Recommended screening
Testing Children Adults
Hearing 6 months, 12 months, then yearly 3–5 years
T4 and TSH 6 months, then yearly
Eyes 6 months, then yearly 3–5 years
Teeth 2 years, then every 6 months
Coeliac disease Between 2 and 3 years of age,
or earlier if symptoms occur
Sleep study 3 to 4 years, or earlier if symptoms
of obstructive sleep apnea occur
Neck X-rays Between 3 and 5 years of age

A number of health organisations have issued recommendations for screening those with down syndrome for particular diseases. This is recommended to be done systematically.

At birth, all children should get an electrocardiogram and ultrasound of the heart. Surgical repair of heart problems may be required as early as three months of age. Heart valve problems may occur in young adults, and further ultrasound evaluation may be needed in adolescents and in early adulthood. Due to the elevated risk of testicular cancer, some recommended checking the person's testicles yearly.

Cognitive development[edit | edit source]

Hearing aids or other amplification devices can be useful for language learning in those with hearing loss. Speech therapy may be useful and is recommended to be started around 9 months of age. As those with down syndrome typically have good hand-eye coordination, learning sign language may be possible. Augmentative and alternative communication methods, such as pointing, body language, objects or pictures are often used to help with communication. Behavioural issues and mental illness are typically managed with counselling or medications.

Education programs before reaching school age may be useful. School-age children with down syndrome may benefit from inclusive education (whereby students of differing abilities are placed in classes with their peers of the same age), provided some adjustments are made to the curriculum. Evidence to support this, however, is not very strong.

Individuals with down syndrome may learn better visually. Drawing may help with language, speech, and reading skills. Children with down synrdome still often have difficulty with sentence structure and grammar, as well as developing the ability to speak clearly. Several types of early intervention can help with cognitive development. Efforts to develop motor skills include physical therapy, speech and language therapy and occuptional therapy. Physical therapy focuses specifically on motor development and teaching children to interact with their environment. Speech and language therapy and help prepare for later language. lastly, occupational therapy can help with skills needed for later independence.

Other[edit | edit source]

Tympanostomy tubes are often needed and often more than one set during the person's childhood. Tonsillectomy is also often done to help with sleep apnea and throat infections. Surgery, however, does not always address the sleep apnea and a continuous positive airway pressure (CPAP) machine may be useful. Physical therapy and participation in physical education may improve motor skills. Evidence to support this in adults, however, is not very good.

Efforts to prevent respiratory syncytial virus (RSV) infection with human monoclonal antibodies should be considered, especially in those with heart problems. In those who develop dementia, there is no evidence for memantine, donepezil, rivastigmine, or galantamine.

Plastic surgery has been suggested as a method of improving the appearance and thus the acceptance of people with down syndrome. It has been proposed as a way to improve speech. Evidence, however, does not support a meaningful difference in either of these outcomes. Plastic surgery on children with down syndrome is uncommon, and continues to be controversial.

Many alternative medical techniques are used in down syndrome; however, they are poorly supported by evidence. These include dietary changes, massage, animal therapy, chiropractic and naturopathy, among others.

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