Down Syndrome

What Exactly is Down Syndrome?
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There are two main tests used to diagnose a baby with Down's syndrome while it's still in the womb. These are:.

Make sure you discuss the benefits and risks of having either of these procedures with your doctor or midwife beforehand though, as both tests are thought to have around a one in chance of causing a miscarriage. If your doctor needs to confirm the diagnosis, a sample of your child's blood can be taken and analysed to look for the extra copy of chromosome 21 that causes Down's syndrome. Having Down's syndrome, or having a child with the condition, can be challenging at times. But with help and support, most people are able to have healthy, active and more independent lives.

Giving birth can be exciting, scary and tiring, and finding out your baby has Down's syndrome can be unexpected and alarming. Some families accept their baby's diagnosis of Down's syndrome quickly, while others need time to adjust. It is quite common for parents to feel overwhelmed or have negative thoughts after the birth of their new baby. There is no right or wrong way to react. It's important to remember you're not alone in your situation.

About Down's syndrome

Many parents find it reassuring to talk to other parents. They can also provide information about aspects of living with Down's syndrome. There are a number of things you can do on a daily basis to help your child with their learning and development. What helps will depend on the skills your baby has trouble with, but things that may be useful include:. However, it's important to find a balance between "special" activities and normal things families do to ensure your child grows up within a happy, loving and active family environment.

As with all new babies, at times they will need to fit in with what is going on around them and the needs of other family members. Not everything you do with your baby needs to be educational or meaningful. Any fun activity with family can be beneficial. For many people this will involve an early intervention programme, which is a special programme that aims to help a child with learning disabilities develop, as well as provide support to the family. You'll also be advised about things you can do at home to help your child learn and develop, and you'll have the opportunity to find out about your child's condition and meet other families in similar situations.

Down's syndrome

However, individual needs vary and some parents feel a special school will be most suitable for their child. It might help to visit some mainstream and special schools in your local area and talk to the staff about how they might meet your child's special educational needs. 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.

Down Syndrome Facts | National Down Syndrome Society

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. 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. 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.

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Many people with Down's syndrome enter loving relationships, although they may need guidance and support when it comes to things like contraception. 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".

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.

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Skip directly to site content Skip directly to page options Skip directly to A-Z link. They also tend to have many colds, as well as bronchitis and pneumonia. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells leukemia. Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. Extra fluid in this region could indicate a genetic problem.

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. 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. The thyroid gland is located in the neck and is responsible for controlling your metabolism the rate at which your body uses up energy. It does this by releasing thyroid hormones into the body. Most people with Down's syndrome who have a problem with their thyroid have hypothyroidism , which means their thyroid gland is underactive.

Symptoms of an underactive thyroid gland can include:. Thyroid problems will usually be picked up during blood tests and can often be treated with medication to replace the lack of thyroid hormone in the body. People with Down's syndrome are more likely to develop infections, such as the lung infection pneumonia , because their immune system the body's natural defence against infection has not developed properly.

To reduce the risk of infections, routine childhood vaccinations will be recommended, as may the annual flu jab. If your child develops a bacterial infection, a course of antibiotics will usually be prescribed to treat it. Possible signs of dementia include problems with short-term memory and understanding, confusion, and disorientation.

Home Illnesses and conditions Brain, nerves and spinal cord Down's syndrome. About Down's syndrome Down's syndrome, also known as Down syndrome, is a genetic condition that typically causes some level of learning disability and characteristic physical features. Around babies are born with the condition each year in England and Wales. Read more about the characteristics of Down's syndrome Screening for Down's syndrome In some cases, babies with the condition are identified before birth as a result of screening for Down's syndrome.

Read more about diagnosing Down's syndrome What causes Down's syndrome? Read more about the causes of Down's syndrome Life with Down's syndrome Although there is no "cure" for Down's syndrome, there are ways to help children with the condition develop into healthy and fulfilled individuals who are able to achieve the level of independence right for them. Read more about living with Down's syndrome Care and support If you have Down's syndrome or care for someone who has Down's syndrome, it may be useful to visit Care Information Scotland. Characteristics of Down's syndrome Each person with Down's syndrome is affected differently, but most share a number of physical characteristics and developmental problems.

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 occurrence of Down Syndrome

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.