Introduction

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 775 babies are born with the condition each year in England and Wales.

Many 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
  • a small mouth with a protruding tongue
  • a flat back of the head
  • 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, but the level of disability will be different for each individual.

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.

Screening tests can't tell you for definite if your baby has Down's syndrome, but they can tell you how likely it is. If screening suggests there is a chance your baby does have Down's syndrome, further tests can be carried out during pregnancy to confirm it.

If testing indicates your child will be born with Down's syndrome, you should be offered genetic counselling to allow you and your partner to discuss the impact of the diagnosis.

You may also be offered an appointment to meet a doctor or other health professional who works with children with Down's syndrome, who can also tell you more about the condition and answer any questions you may have.

Read more about diagnosing Down's syndrome

What causes Down's syndrome?

Down's syndrome is caused by the presence of an extra copy of chromosome 21 in a baby's cells.

In the vast majority of cases, this isn't inherited and is simply the result of a one-off genetic mistake in the sperm or egg.

There is a small chance of having a child with Down's syndrome with every pregnancy, but the likelihood increases with the age of the mother. For example, a woman who is 20 has about a 1 in 1,500 chance of having a baby with the condition, while a woman who is 40 has a 1 in 100 chance.

There is no evidence that anything done before or during pregnancy increases or decreases the chance of having a child with 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. This includes:

  • access to good healthcare, including a range of different specialists
  • early intervention programmes to provide support for children and parents
  • good parenting skills and an ordinary family life
  • education and support groups to provide information and help for parents, friends and families

Improved education and support has led to more opportunities for people with Down's syndrome. These include being able to leave home, form new relationships, gain employment and lead largely independent lives.

However, it is important to remember each child is different and it is not possible to predict how individuals will develop.

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. This site is for people with care and support needs, as well as their carers and relatives.

 

Associated health conditions

There are a number of disorders that are more common in people with Down's syndrome. These include:

Your child may be checked by a paediatrician more often than other children to pick up developing problems as early as possible. If you have any concerns about your child's health, discuss them with your GP, health visitor or paediatrician.

Read more about the complications of Down's syndrome

Characteristics

Each person with Down's syndrome is affected differently, but most share a number of physical characteristics and developmental problems.

Physical appearance

People with Down's syndrome often have certain physical characteristics. Not everyone will have all of them, but they may include:

  • reduced muscle tone that results in floppiness (hypotonia)
  • a small nose and flat nasal bridge
  • a small mouth with a protruding tongue
  • eyes that slant upwards and outwards
  • a flat back of the head
  • 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 (single transverse palmar crease)
  • 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.

They will also 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.

Children with the condition may be slower to learn skills such as:

  • reaching
  • sitting
  • standing
  • walking
  • talking

A child with Down's syndrome will gain these skills eventually – it simply takes more time.

Around 1 in every 10 children also experience additional difficulties such as autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD).

Because of these problems, children with Down's syndrome often require extra support as they grow up and additional help at school.

Read more about living with Down's syndrome

Health problems

While many children and adults with Down's syndrome have few other health problems, there are a number of conditions that occur more frequently in people with Down's syndrome.

These include problems with the heart and bowel, difficulties with hearing and vision, and an increased risk of infections.

Read more about the possible complications of 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 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. A child inherits 23 from the mother and 23 from the father.

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. The additional genetic material causes physical and developmental characteristics associated with Down's syndrome.

Types of Down's syndrome

There are three forms of Down's syndrome, although the effects of each type are usually very similar.

  • Trisomy 21 is the most common type, affecting around 94% of people with Down's syndrome. It's where every cell in the body has an extra copy of chromosome 21.
  • Translocation is where an extra piece of chromosome 21 attaches itself to another chromosome. It affects around 4% of people with Down's syndrome. In this situation, there are only 46 chromosomes in each cell but one of them has extra material attached, so the total amount of genetic material in the cell is similar to that seen in a trisomy.
  • Mosaicism is the least common type, affecting around 2% of people with Down's syndrome. Only some of the cells have an extra copy of chromosome 21, which can mean people with mosaic Down's syndrome experience less delay with some aspects of their development.

In the vast majority of cases, Down's syndrome isn't inherited, and is simply the result of a one-off genetic mistake in the sperm or egg.

However, in some cases caused by the translocation of chromosome 21, the genetic mistake is passed on from one of the child's parents, even if they have no signs of Down's syndrome themselves.

What are the chances of having an affected pregnancy?

With every pregnancy, there is a small chance of having a child with Down's syndrome.

There's currently no clear evidence to suggest that anything done before or during pregnancy increases or decreases this chance, although some people are more likely to have a child with Down's syndrome than others.

The main factor that increases the chance of having a baby with Down's syndrome is the age of the woman when she becomes pregnant. For example, a woman who is:

  • 20 years of age has a chance of one in 1,500
  • 30 years of age has a chance of one in 800
  • 35 years of age has a chance of one in 270
  • 40 years of age has a chance of one in 100
  • 45 years of age has a chance of one in 50 or greater

However, babies with Down's syndrome are born to mothers of all ages.

The chance of having a child with Down's syndrome is also increased if you have previously had an affected pregnancy. For most people this chance is still small (around one in 100), although this may be as high as one in 10 if you or your partner have the altered genes that can lead to the translocation of chromosome 21.

There is around a one in two chance of a child having Down's syndrome if one of his or her parents has the condition.

Diagnosis

Screening during pregnancy can determine the likelihood of a baby being born with Down's syndrome, but in many cases the condition is only diagnosed after birth.

Screening during pregnancy

All pregnant women are offered screening for Down's syndrome.

Screening cannot definitively diagnose Down's syndrome, but it can help determine the chances of your baby having Down's syndrome.

The screening tests are:

  • a blood test plus nuchal translucency ultrasound scan (nuchal translucency is a collection of fluid at the back of the baby's neck) – this is called the combined test, and is offered between 11 and 14 weeks of pregnancy

or

  • a blood test that can be offered between 14 and 20 weeks of pregnancy if you are too far along to have the combined test – this blood test is less accurate than the combined test

Read more about screening for Down’s syndrome in pregnancy, including when it’s carried out and the different tests used.

If the screening test results show that you have a higher chance of having a baby with Down's, you will be offered diagnostic tests to find out for certain if your baby has the condition.

Diagnosis during pregnancy

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

  • chorionic villus sampling (CVS) – a small sample of the placenta (an organ attached to the lining of your womb during pregnancy) is removed with a needle or tube for examination; this is usually done from week 11 of pregnancy
  • amniocentesis – a small sample of amniotic fluid (the fluid that surrounds the foetus in the womb) is removed with a needle for examination; this is usually carried out from week 15 of pregnancy

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 100 chance of causing a miscarriage.

Getting the results

The results of CVS or amniocentesis are normally available within a few days.

If the test shows that your baby is unlikely to have Down's syndrome, your pregnancy should continue as normal.

If you are told that it's likely your baby does have Down's syndrome, you should be offered genetic counselling to allow you and your partner to discuss the impact of the diagnosis on you, and talk about the available options.

You may also be offered an appointment to meet a doctor or other health professional who works with children with Down’s syndrome, who can also tell you more about the condition and answer any questions you may have.

This will help you make an informed choice about how to proceed with the pregnancy.

Diagnosis after birth

Once your baby is born, an initial diagnosis of Down's syndrome is usually based on your baby's appearance, as there are often clear physical characteristics of Down's syndrome.

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.

Living with

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.

Emotional impact

In some cases, it may not be apparent a baby has Down's syndrome until after they are born. 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.

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. 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. Finding out more about the condition will give you a better understanding of how it may affect your child's life, as well as your own.

Support groups

It's important to remember you're not alone in your situation. Thousands of people in the UK have Down's syndrome, and there are many people who have experience of supporting and caring for people with the condition.

Many parents find it reassuring to talk to other parents. Down's Syndrome Scotland can offer you advice, and talk through any fears or concerns you may have. They can also provide information about aspects of living with Down's syndrome.

Helping your child

Most children with Down's syndrome have difficulty learning new things and take a bit longer to reach developmental milestones, such as walking and talking.

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:

  • using play to help your child learn – for example, show them how to play with their toys and use toys to encourage them to reach, grasp and move
  • naming and talking about the things your child is looking at and is interested in
  • giving your child the opportunity to mix with other children
  • encouraging your child to be as independent as possible from an early age with activities such as feeding and dressing, getting ready for bed, brushing teeth, and going to the toilet
  • playing games to teach vocabulary and word recognition – a home visiting teacher or speech and language therapist can give you some ideas

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.

Professional support

A number of different professionals experienced in caring for children with Down's syndrome will be able to help you with any difficulties you or your child are having.

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.

An early intervention programme can include:

  • speech and language therapy – to help with any problems communicating or feeding
  • physiotherapy – to help with any muscle weakness or movement difficulties
  • individual home teaching programmes

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.

For more information and advice read about assessing your care needs

Education

Increasing numbers of children with Down's syndrome are educated in mainstream nurseries or mainstream schools with support. 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.

Financial support

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

Regular health check-ups

Children and adults with Down's syndrome need regular check-ups to monitor their health because certain health problems are more common in people with the condition.

Read more about the complications of Down's syndrome

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.

The health check-ups may involve:

  • hearing and vision tests
  • measuring height and weight
  • blood tests to check for thyroid problems
  • checking for signs of heart problems

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.

Teens with Down's syndrome

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.

Between the ages of 16 and 18, the child will start a "transition" of services.

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

Adults with Down's syndrome

Further education and employment

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.

Read more about work and disability

Living independently

With help and support, many adults with Down's syndrome are able to lead an active and fairly independent life. Although it may not be possible to live completely independently, increasing numbers of adults with Down's syndrome are leaving home and living in their communities with support.

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.

Read more about disability and independent living and supported living services

Relationships, sex and fertility

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.

Making decisions

Someone with Down's syndrome may have the capacity to make some decisions (for example, to decide what items to buy at the local shop), but lack capacity to make other decisions (for example, making decisions about complex financial issues).

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.

For more information, read What is the Mental Capacity Act?.

Complications

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. If you have any concerns about your child's health, discuss them with your GP, health visitor or paediatrician.

Some of the main complications associated with Down's syndrome are outlined below.

Heart problems

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. If a problem is found, surgery will often be needed to repair the heart.

Gut problems

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.

Some children also develop coeliac disease (a condition where a person has an adverse reaction to gluten) and reflux (bringing up milk during or shortly after feeding).

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.

Hearing problems

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.

Vision problems

Many people with Down's syndrome also have problems with their eyesight and often need to wear glasses.

Common eye problems include:

  • short-sightedness – where distant objects appear blurred
  • long-sightedness – where nearby objects appear blurred
  • squint
  • eye infections, such as conjunctivitis, uveitis or blepharitis
  • cataracts – where the lens (the transparent structure that sits just behind your pupil) clouds over
  • nystagmus – where the eyes move uncontrollably, usually from side to side
  • keratoconus – where the cornea (clear outer layer at the front of the eyeball) becomes thin and bulges out
  • glaucoma - increased pressure in the eye

Thyroid problems

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:

  • lethargy (lack of energy)
  • weight gain
  • slow physical and mental reactions

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.

Increased risk of infections

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.

Dementia

There is a tendency for people with Down's syndrome to develop dementia at a younger age than in the general population, usually from about 40 years of age onwards, although it's not inevitable that everyone with Down’s syndrome will develop it.

Possible signs of dementia include problems with short-term memory and understanding, confusion, and disorientation.