Guide Down Syndrome: Where do I start?

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However, people with Down syndrome can live healthy and fulfilling lives. Recent medical . Available programs start with interventions in infancy. Federal law.
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Some expectant parents choose to undergo prenatal testing to find out in advance if their child will have Down syndrome. They can also detect conditions such as Down syndrome, congenital heart defects, genetic conditions and other birth defects. After Mae was born with Down syndrome, her parents moved to Boston for her care and were inspired to give back by raising funds for other families. People with mild intellectual disability are usually able to learn how to do everyday things like read, hold a job, and take public transportation on their own.

People with moderate intellectual disability usually need more support. Many children with Down syndrome can participate in regular classrooms, though they may need extra help or modifications. Thanks to widespread special education and community programs, more and more people with Down syndrome graduate from high school, attend college and work in their communities. To help children with Down syndrome reach their highest potential, parents can seek out assistance programs as early as possible. By law, every state must provide developmental and special education services for children with Down syndrome, starting at birth with early Intervention and then continuing with public education until age Children with Down syndrome can have a variety of health issues.

Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome usually develop this condition in their fifties or sixties. Down syndrome occurs in about 1 in newborns.

About 5, babies with Down syndrome are born in the United States each year, and approximately , people in this country have the condition. Although women of any age can have a child with Down syndrome , the chance of having a child with this condition increases as a woman gets older. Most cases of Down syndrome result from trisomy 21 , which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached translocated to another chromosome during the formation of reproductive cells eggs and sperm in a parent or very early in fetal development.

Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome Affected individuals with this genetic change are said to have translocation Down syndrome.

A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in only some of the body's cells. In these people, the condition is called mosaic Down syndrome.


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Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent.

The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.

People with translocation Down syndrome can inherit the condition from an unaffected parent. The parent carries a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems.

However, as this translocation is passed to the next generation, it can become unbalanced. You may feel you need to give up work or decrease your hours so you can spend more time caring for your child. If this is the case, it's worth finding out about any benefits you may be entitled to. Read about financial help for parent carers. These check-ups will usually be with a paediatrician a doctor who specialises in treating children at first, although a GP may carry them out as your child gets older.

Down Syndrome: Management and Treatment

If your doctor spots a potential problem, they can refer you to an appropriate specialist to talk about any treatment or support that may benefit your child. Until the age of 18, the care of children with long-term health conditions is the responsibility of child health and social care services. From 18, they are usually the responsibility of adult services.

For more information, read about transition planning for disabled young people.


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Many young adults with Down's syndrome pursue further education. Some also gain employment, usually on a part-time basis, but this will depend on the individual. With help and support, many adults with Down's syndrome are able to lead an active and fairly independent life. Adults with Down's syndrome often move into property owned and staffed by a housing association, where staff can provide different levels of support depending on the individual's particular needs.

If necessary, a social worker may be able to help with difficulties finding accommodation. An occupational therapist can offer practical advice to help make independent living easier. Many people with Down's syndrome enter loving relationships, although they may need guidance and support when it comes to things like contraception.

Caring and Advocating for Children and Youth

Men and women with Down's syndrome tend to have a reduced fertility rate. This does not mean they cannot conceive children, but it does make it more difficult. Those who decide to have children will usually need specialist guidance and support to help them cope with the physical and mental demands of a newborn baby. If one partner in a couple has Down's syndrome, there is around a one in two chance of each of their children having Down's syndrome, too. The risk of miscarriage and premature birth is also greater in women with Down's syndrome.

Where someone is judged not to have the capacity to make a specific decision after a capacity assessment , that decision can be taken for them, but it must be in their best interests. Some children with Down's syndrome have very few health problems as a result of their condition. Others will experience several of the more common health conditions and will need extra medical care and attention. Your child will usually need to be checked by a paediatrician more often than other children to pick up developing problems as early as possible. Around half of children with Down's syndrome are born with a congenital heart defect.

The most common defect to affect children with Down's syndrome is a septal defect. This is a hole inside one of the walls that separate the four chambers of the heart, often referred to as a "hole in the heart".

Down Syndrome Management and Treatment | Cleveland Clinic

It can cause a build-up of blood in one or more of the heart's chambers, which causes the heart to work harder to pump blood through the four chambers. If your baby is diagnosed with Down's syndrome, their heart will be carefully assessed to detect any problems as soon as possible.

If a problem is found, surgery will often be needed to repair the heart. Many people with Down's syndrome have some sort of problem with their digestive system. Constipation , diarrhoea and indigestion are all common, as are more serious problems such as small bowel obstruction, which stops food passing from the stomach into the large bowel.


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Conditions such as imperforate anus where a baby is born without an anal opening or Hirschsprung's disease where the large bowel is unable to push faeces towards the anus are rare, but slightly more common in children with Down's syndrome. Most people with Down's syndrome have problems with their hearing. This is often temporary, but it can sometimes be permanent. Glue ear a build-up of fluid in the middle ear is a common cause of temporary hearing problems in people with Down's syndrome. If your child has glue ear, they will usually be referred to an ear, nose and throat ENT specialist for further assessment.

For some children, glue ear can be treated with minor surgery, which involves placing small tubes called grommets in the ear to help drain away the fluid. Many people with Down's syndrome also have problems with their eyesight and often need to wear glasses. Around one in 10 people with Down's syndrome have problems with their thyroid gland.