All the Down Syndrome information you need to live well with the condition.

If you care for someone with Down syndrome and are in need of some valuable Down syndrome information, this guide may provide some answers for you. Here, we explore what causes Down syndrome, what Down's syndrome symptoms may be experienced, and about living with Down syndrome.

Remember, you are not alone, and there are many sources of support available to you, your child and your family. If you are concerned about any of the symptoms or information you read here, please consult your GP.

What is Down Syndrome?

Down Syndrome, also called Trisomy 21, was first described by Doctor John Langdon Down. Occurring during conception, Down syndrome is a genetic condition caused by having an extra chromosome and occurs during conception.

Some Down's syndrome symptoms, or characteristics, can be present when a baby is born, and a person with Down syndrome may have some distinctive physical features. As they grow up, a child with Down syndrome will have some sort of learning disability.

Some people with the condition may develop other healthcare conditions throughout their lives. Down syndrome affects everyone differently yet most people with the condition can live long, full lives, capable of doing many things that people without Down syndrome can do.

In the UK, around 40,000 people have Down's syndrome and around 1 in 1000 babies are born with Down syndrome per year.

What Causes Down Syndrome?

Our bodies operate and look the way they do as a result of our genes.

Genes are inherited from our parents, and are passed on to us in groups called ‘chromosomes’ with 23 chromosomes coming from each parent. A person living with Down syndrome has two copies of chromosome 21, meaning that they have 47 in total. The extra gene causes Down syndrome.

Down syndrome is caused by a one-off, spontaneous genetic change in the egg or sperm. Despite the extra chromosome being inherited from one parent, it doesn’t mean that the parent has Down syndrome or is a carrier of a particular gene which causes Down syndrome.

For more information about chromosomes, genes and DNA, visit the Genetic Alliance website.

Main Types of Down Syndrome

There are three types of Down syndrome:

Trisomy 21

94% of people with Down syndrome have this type. Every single cell in the body has an extra copy of chromosome 21.

Translocation

4% of people with Down syndrome have this particular type. Part of chromosome 21 attaches to another chromosome.

Mosaicism

2% of people with Down's syndrome have this type. Chromosome 21 is copied to just a selection of cells, and people tend to have fewer or less prominent delays in their development.

Did you know?

Down's syndrome is a genetic condition that leads to a person having an extra copy of one chromosome.

Symptoms of Down Syndrome

Down syndrome is neither a disease nor an illness. People living with Down syndrome do not have a definitive list of physical or mental ailments which are directly caused by Down syndrome.

Down syndrome does, however,  usually bring with it some level of learning disability, developmental delays, and some common physical features, which we will soon cover here in more detail. 

We must remember though, that no two people with the condition are the same. People with Down syndrome are individuals, each with different abilities, feelings, personalities and experiences. If you have a child with Down syndrome, they are certain to be unique in their own way.

During their development, a young child with Down syndrome could take longer to learn certain skills like talking, sitting, standing and walking. Many will, however, learn these skills eventually - at their own pace, in their own time.

Most children with Down syndrome have some level of learning disability. This means they may take longer to learn skills or to understand and process information, often finding interaction and communication difficult. A small number of children with Down syndrome may develop other conditions such as autism or ADHD.

Some people with Down syndrome may have other physical healthcare conditions that affect their heart, stomach, sight or hearing, for example:

• Glue ear
• Congenital heart defect
• Mild digestive problems (constipation, diarrhoea, etc)
• Cataracts, glaucoma or nystagmus
• Coeliac disease

Each of these may be present as early as birth or could develop as the person grows older into an adult. For more information about healthcare conditions that may affect a person with Down syndrome, visit the NHS website.

Overall, a person with Down syndrome is likely to live a long life into old age. Many are able to live independently. Read more about living with Down syndrome later.

​​Diagnosis of Down Syndrome Before Birth

Women of various age groups have a slight possibility of their baby being born with Down's syndrome. As a woman's age advances, the likelihood of her having a baby with Down's increases, primarily due to the age of her eggs. Nevertheless, it's essential to note that the majority of women who have babies at a later age do not give birth to babies with Down's syndrome - the risk is just slightly higher.

During pregnancy, a woman has the option to undergo tests to determine the likelihood of her child having Down's syndrome. The decision to have this screening test varies among women or couples, with some opting for it while others choose not to. Typically, around the 10th to 14th week of pregnancy, when a scan is performed to confirm the baby's due date, you will be offered the Down's syndrome screening test.

The first screening poses no harm to the baby and consists of a blood test for the mother and an ultrasound examination to analyse the nuchal translucency. This data is then evaluated along with factors like the mother's age and the age of the baby to produce a result. It's crucial to understand that this outcome does not offer a definitive diagnosis but represents a percentage chance of Down's syndrome. For a confirmed diagnosis, additional procedures are necessary, such as chorionic villus sampling or amniocentesis, which carry a small chance of miscarriage.

For more information about Down syndrome testing in pregnancy, visit the NCT website.

In cases where parents opt not to have screening or a confirmed diagnosis before birth, the condition is often identified shortly after the baby's delivery. Newborns with Down's syndrome typically share certain physical characteristics or symptoms, such as a flat head at the back, a smaller-than-usual mouth, a protruding tongue, or slightly slanted or almond-shaped eyes. However, these features may not always be immediately noticeable to parents, and the baby will still resemble other members of the family.

Healthcare professionals, including midwives and consultants, are trained to observe these features during post-birth examinations. If they suspect that the baby may have Down's syndrome, they will recommend blood tests to confirm the diagnosis.

Parents report mixed feelings when their unborn, or newborn, baby is diagnosed with Down, and combined with the emotion of giving birth, it can feel overwhelming. It is important to remember that your baby is just like any other child, but that they may have some additional needs throughout the course of their lives. If you have been informed that your baby has Down syndrome, either before he or she is born, or shortly after, the Down Syndrome Association provide a leaflet about looking forward to your baby. The NHS provides more down syndrome information about the causes of Down syndrome and diagnosis of Down syndrome.

Did you know?

Down syndrome can be diagnosed before a baby is born, or shortly after birth.

Treatments for Down Syndrome

Down's syndrome does not have a "cure", and no medications can alter or eliminate the characteristics associated with the condition. However, there are available treatments to assist a child with Down's syndrome in developing language, motor skills, and other abilities. These treatments may include speech therapy, physiotherapy, and participation in special educational programs.

Additionally, various healthcare support options are accessible to address any other medical conditions that may arise due to Down's syndrome. To discuss treatments for Down's syndrome or related conditions, your GP is the best person to reach out to for guidance and support.

A physiotherapist can provide valuable assistance in fostering the development of sitting, rolling, and walking skills in babies or young children with Down's syndrome. As a person grows older, an occupational therapist can play a role in helping them. They can identify ways to promote independence within the home environment for both children and adults with Down's syndrome.

Apart from developmental support, individuals with Down's syndrome may also require medical treatments for conditions associated with the syndrome. For instance, some might experience hearing issues and seek audiology treatment, while others may need support from a dietitian to address weight gain and obesity concerns. Additionally, there could be cases of heart defects that require cardiology treatment. 

There are ‘early intervention’ and therapeutic programmes available to help children with Down to develop skills and independence. Brainwave is a charity that provides such therapy to help children with various conditions, including Down syndrome. They are able to tailor therapy to each individual child, assessing what areas they need support in, and finding solutions to their specific needs. For more information about Brainwave, visit their website.

Not all children with the condition need these Down syndrome treatments though, and many develop such skills on their own, in a supportive family environment. Everyone with Down syndrome is an individual with different needs.

Research continues to explore what causes Down syndrome and you can find out more about research projects from the Down Syndrome Research website.

Did you know?

Most people with Down syndrome will have some level of learning disability which may mean they take longer to develop certain skills or to process information.

Living With Down Syndrome

Families and individuals have access to a wide range of support for Down's syndrome. People with Down's syndrome can engage in many activities similar to those without the condition, such as attending school, college, living independently, pursuing work opportunities, and getting married. Thankfully, attitudes towards conditions like Down's syndrome are evolving, and the associated stigmas are gradually changing, enabling individuals to lead fulfilling lives without being burdened by outdated prejudices.

Read on to find out about living with Down syndrome, including help for Down syndrome in terms of living independently and products that may help a child’s development.

Impact on Daily Living

Most children or adults with Down syndrome live healthy, happy lives, but may need extra support in certain aspects of daily life. Read more about the experiences of some people who have Down syndrome here.

Being a parent or carer for a child or an adult with Down syndrome is likely to have an impact upon your life, in many positive ways. It may also present different challenges to having a child who does not have Down syndrome. You may have to consider lots of different aspects of raising your child or supporting them as they grow up, which other parents do not have to think about. For example, you may need to consider whether your child is able to live independently when they become young adults or older. There are many ways that an adult with Down syndrome is able to live away from home, with support from carers or within a housing association.

This blog gives one mother’s view of raising a son who has Down syndrome.

Mencap offer lots of advice and information on all aspects of daily living, including housing, social care, benefits etc.

Caring for a Child With Down Syndrome

​​If you are a new parent of a child with Down syndrome, there is no reason to treat them any differently to any other baby. Some babies with Down syndrome have additional needs, for example, they may take longer to learn to breastfeed, but your community midwife or health visitor may be able to offer support to you.

Some babies with Down syndrome may have additional health needs, and you may spend some time having these diagnosed or treated.

In terms of their development, you should help them to learn language, motor skills and independence by giving them the opportunities to play with toys and other children, talking to them, naming objects and actions, and encouraging their independence.

If you are a new parent and feel that you require some support but are unsure what is available to you, the NHS provides information about services you may find useful.

If you are particularly concerned about any specific areas of your child’s development, speak to your GP or paediatrician, who may be able to refer your child to other healthcare professionals or services that can help provide Down syndrome treatments. For example, some children will benefit from speech and language therapy, physiotherapy, and occupational therapy.

Many children with Down syndrome are able to go to mainstream schools whilst others feel that their needs are better met at special educational schools. If you need help finding out what educational support your child is entitled to, visit the Government website.

Down Syndrome Products

Some children and adults with Down syndrome find that daily living aids and sensory aids can help them with some aspects of daily life.

Complete Care Shop provides an abundance of daily living aids and has a team of Occupational Therapists (OTs) to advise what products might be suitable. Here, we provide some suggestions on products that might help with sensory needs, as well as equipment that may help young adults or older people with Down syndrome to live independently. These are only some ideas – there are many other products available to suit a person’s specific needs.

If you would like to speak to a member of our team to find if there are any daily living aids that may help you or someone you care for, don’t hesitate to contact us or get in touch with our Occupational Therapists.

​​PLEASE NOTE: our advice services can only give advice about equipment and products which may help you to live more independently. They cannot give any advice on medications or treatments for symptoms of this condition.

Down Syndrome and Employment

Many people with Down syndrome are able to and choose to work. However, statistics suggest that many people with learning disabilities are unemployed. Attitudes of employers are gradually changing, and services such as WorkFit may be able to help match employers and prospective employees with Down syndrome.

Down Syndrome Diet & Exercise

It is important for everyone to eat healthy and exercise regularly if we want to ensure that our bodies are functioning at their best. People with Down syndrome, however,  tend to have slower metabolisms, which means it is easy for them to put weight on, which in turn can lead to a higher risk of developing health conditions as they get older.

The Downs Syndrome Association provide further helpful information on healthy eating.

Did you know?

People with Down syndrome are more likely to have certain other physical healthcare conditions.

Support

​​We hope this guide has helped you understand more about living with Down syndrome. If you are a parent or carer for a person with Down syndrome, or if you have Down syndrome yourself, you may find it useful to talk to other people who are having similar experiences to you. There is a lot of help for Down syndrome available, and here we provide some sources of support, such as online forums and charities that provide advice. We also provide a list of other online resources that provide information about various aspects of living with Down syndrome that may be relevant to you.

Communities

Contact a family – a charity that aims to bring families who are experiencing similar things, together to provide mutual support

Down's Syndrome Association Helpline – call 0345 121 8111

Mencap FamilyHub – is a safe, online forum for sharing experiences, asking questions and talking about learning disability

Resources

British Institute of Learning Disabilities (BILD) – a charity supporting the rights of people with learning disability

Downs Heart Group (DHG) – a charity supporting people who have Down syndrome and associated heart conditions

Downs Syndrome Association – the leading UK charity for people with Down syndrome and their families, which provides a wealth of information and support services such as local groups and a helpline

Downs Syndrome Scotland – the only charity in Scotland supporting people with Down syndrome, led by parents

Genetic Alliance – a charity for people with all types of genetic conditions

GOV.uk – official information from the UK Government regarding rights, benefits and laws related to disability, education, healthcare, childcare, housing and employment

Mencap – a UK charity supporting people with learning disability, their families and carers

NHS – provides medical and healthcare information about Down syndrome, learning disability and other related conditions

Scope – a charity dedicated to improving the lives of people with all types of disability

Did you know?

Around 40,000 people in the UK have Down's syndrome and around 1 in 1000 babies are born with Down syndrome each year.

Glossary

Whilst we do our best to explain things as simply and clearly as possible, it is often necessary to use specific medical terminology. Medical terms are often known for being tricky to pronounce and if you’re not an expert in the subject, they can also be a little difficult to understand. Below, we’ve put together a list of terms used on this page along with a brief explanation of what they mean to help make your understanding of Down syndrome as straightforward as possible.

ADHD

Stands for Attention Deficit Hyperactivity Disorder, which is a behavioural condition causing hyperactivity and impulsive behaviour, usually noticed from a young age.

Amniocentesis

A medical procedure that takes fluid from within the amniotic sac (in which an unborn baby is growing within the uterus) in order to test for chromosomal abnormalities of the baby.

Autism

An umbrella term for a developmental disability, also known as Autism Spectrum Disorder (ASD), which means a person has different ways of processing information, which may cause learning disability, communication or interaction difficulties, repetitive behaviours, and difficulty understanding feelings and sensory input.

Cataracts

A visual impairment that causes cloudiness in the eye’s lens, which often requires surgery to correct

Chronic Villus Sampling

A test that a woman can opt to have during pregnancy to test cells removed from the placenta, to test if the baby has a genetic condition

Chromosome

A piece of DNA that stores genetic information.

Coeliac Disease

An autoimmune disease that means the body’s immune system reacts to gluten when consumed (e.g. in foods containing flour, wheat, etc) and damages the intestine causing multiple digestive issues as well as other ill health symptoms

Conception

When the egg and sperm meet and fertilise to create the beginnings of a foetus.

Congenital Heart Defect

A problem with the heart that is present from birth, and may include for example, a hole in the heart or narrowed valves.

Genes

Part of a chromosome, made of DNA, which contains the code for how our body looks and functions and is inherited from our parents.

Glaucoma

A condition of the eye that involves pressure building up and damaging the optic nerve, but which can be treated with medication drops if diagnosed early enough.

Glue Ear

​​A condition of the ear that is caused by fluid or mucus build up in part of the tubes in the ear, which can cause temporary hearing loss but is treatable.

Nuchal Translucency

A test done in pregnancy to measure the thickness of the fluid that sits at the back of a baby’s neck, with a thicker than average result suggesting the baby may have Down syndrome or other chromosomal or heart abnormalities – requiring further testing.

Nystagmus

Uncontrolled or involuntary eye movements.

Contact Us

We hope this guide has served you well, providing as much Down syndrome information as you need. However, if there is anything else you would like to know, you can head to our useful help and advice section for more guidance.

If you’d like to speak to a member of our team to discuss our living aids, don’t hesitate to contact us.