Down Syndrome

Evidence 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428796/ 

Stylianos E. Antonarakis, Brian G. Skotko, Michael S. Rafii, Andre Strydom, Sarah E. Pape, Diana W. Bianchi, Stephanie L. Sherman, and Roger H. Reeves 

Down syndrome (DS) is the most common genomic disorder of intellectual disability and is caused by trisomy of Homo sapiens chromosome 21 (HSA21). The eponym of the syndrome is from Down, who described the clinical aspects of the syndrome in 1866.  The DS phenotype involves manifestations that affect multiple bodily systems, in particular the musculoskeletal, neurological and cardiovascular systems. Individuals with DS commonly have short stature, muscle hypotonia, atlantoaxial instability, reduced neuronal density, cerebellar hypoplasia, intellectual disability and congenital heart defects (CHDs; particularly atrioventricular septal defects (AVSDs)).  

Individuals with DS are also more likely to develop certain health conditions, including hypothyroidism, autoimmune diseases, obstructive sleep apnoea, epilepsy, hearing and vision problems, haematological disorders (including leukaemia), recurrent infections, anxiety disorders and early-onset Alzheimer disease (AD). Other conditions, such as most solid tumour types, show inverse comorbidity and seem to be less common in individuals with DS than in the general population. 

Education

What is Down syndrome?

Down syndrome is a genetic condition and is also sometimes known as trisomy 21.  Down syndrome occurs at conception. People from all different backgrounds and ages have children with Down syndrome. Our bodies are made up of trillions of cells. In each cell there are tiny structures called chromosomes. The DNA in our chromosomes determines how we develop. Most people have 23 pairs of chromosomes in each of their cells (46 in total). People with Down syndrome have 47 chromosomes in their cells. They have an extra chromosome 21, which is why Down syndrome is also sometimes known as trisomy 21.

Every person with Down syndrome is an individual. Just like everyone else they will have different things they are good at and other things that they find harder. People with Down syndrome are capable of living full, happy lives as valued members of their communities.

People with Down syndrome may have:

• areas of strengths and other areas where they need more support, just like everyone else in the community
• some level of intellectual disability
• some characteristic physical features
• increased risk of some health conditions (many of which are treatable)
• some developmental delays.

Down syndrome is a genetic condition, not an illness or disease. It is nobody’s fault. There is no cure and it does not go away.

“It is estimated that approximately 1 in every 1100 babies born in Australia will have Down syndrome. This means that each year there are approximately 290 new babies born each year who have Down syndrome.”
https://www.downsyndrome.org.au/about-down-syndrome/statistics/

The life expectancy of people with Down syndrome is increasing with a median age currently of 60 years. People born with Down syndrome go to school, study, get a job and get married. It’s important that they have the understanding and support of their communities so they can participate and be fully included in everyday life. 

Down syndrome and adulthood

Independent living

Some people with Down syndrome decide to live with family members, friends or support people, and other people decide to live on their own. There is no right decision about where to live, or who to live with and everyone is different. People with Down syndrome can be supported to think about the skills they have and any help they might need in their home and community. You can find tools and ideas in the Living Independently guide.

People with Down syndrome can find it harder to understand and communicate information for different reasons. This means people with Down syndrome sometimes need help to make decisions and understand the consequences (what could happen as a result of the decision). There are tools to help with supported decision making about important life choices. You can find out more in the Supported Decision Making guide.

Employment and productivity

People with Down syndrome want to work for the same reasons as everyone else – so that they can be independent, contribute to society, earn their own money, learn new skills, meet new people, and feel valued. People with Down syndrome should be supported to explore all their employment options and to participate in open employment wit the right supports.

There are a range of resources in the Employment Toolkit on the Down Syndrome Australia website.

The NDIS have a range of resources and information to help people with finding and maintaining employment. You can find out more about NDIS and employment on the NDIS employment webpage.

Job Access - www.jobaccess.gov.au

NDIS - https://www.ndis.gov.au/understanding/ndis-and-other-government- services/employment

Volunteering Australia - www.volunteeringaustralia.org

Health and wellbeing

Sustaining a healthy lifestyle by eating well, exercising regularly and having annual checks with medical professionals are the most important steps to maintaining physical wellbeing. Weight management is a common concern for adults with Down syndrome, so it is important for to have regular exercise and a healthy diet. Adults also require regular health check ups along with looking after their mental health.

There are a range of medical conditions that may occur more commonly in adults with Down syndrome. Certainly not all of these will occur in each individual but it is good to know what may occur. It is recommended that a diary or journal of all doctor and allied health appointments, tests, scans and test results are kept together by the individual as well as by the GP.

Access to appropriate care within hospitals and the general health system can be difficult for people with Down syndrome. It is essential to ensure that they have access to good quality health care and are supported to find information and make informed health decisions. You can find more information about Down syndrome and health in the Community Inclusion Health Toolkit.

Mental health

People with intellectual disability, including Down syndrome, are two to three times more likely to experience mental illness than people without disability. People with Down syndrome may also find it harder to access support due to barriers within the health system such as difficulty finding appropriate doctors or therapists

You can find more information in Down syndrome and mental health

Sexuality and reproductive health

At least half of all women with Down syndrome are able to have a baby. Between 35 and 50% of children born to mothers with Down syndrome are likely to have trisomy 21 or other developmental disabilities.

In general, men with Down syndrome have a lower overall fertility rate than that of other men of comparable ages. Regardless of this, contraception should always be used for protection against sexually transmitted infections and pregnancy, unless a couple has decided upon parenthood.

Men and women with Down syndrome have the same susceptibility to sexually transmitted infections as the rest of the population. Use of condoms during sexual intercourse is the best-known form of protection against sexually transmitted infections. Sexual education should include information on sexually transmitted diseases and how to reduce the risk of transmitting them.

The person with Down syndrome needs to be involved in any decision making about contraception. The method chosen will depend on personal preference, ability to use the contraceptive effectively and possible side effects. General practitioners are able to provide advice on the range of contraceptive options available and make a recommendation.

Evidence shows that people with an intellectual disability are at a higher risk of sexual abuse. It is important for all people with Down syndrome to have an awareness of personal safety, be able to protect themselves and report any concerns they have about how other people are treating them.

Down syndrome and ageing

In Australia people with Down syndrome have an average life expectancy of 60 years of age, and more than one in ten adults with Down syndrome will live to 70 years. Planning for the future allows the person with Down syndrome to grow old with dignity, love and care. It also helps to reduce the many stressors ageing can bring to them and their carers, families, medical professionals, therapists, work colleagues and friends.

People with Down syndrome are more likely to develop dementia than other people in the population. There is a detailed resource on Down syndrome and Dementia on the Down Syndrome Australia website.

Learning as much as you can about Down syndrome can help with easing anxiety and can guide you in making informed choices. Meeting other parents that have adult children with Down Syndrome or joining an online support group can also help.

Questions to ask your healthcare team

• How often does an adult with Down syndrome require check-ups?
• Which healthcare professionals do they need to see?
• What are the best birth control options for my son or daughter?
• What are the onset signs for Dementia?

Empowerment 

Empowering people with Down syndrome starts with all of us, the wider society, challenging with status quo every day. To start making minor changes in your everyday life, you can follow these several simple ways to empower them: 

See the Person 

If you haven’t met a person with Down syndrome previously, you might feel unsure about how to best approach them during your first interaction. One key thing you remember is that people with Down syndrome are just like us. 

• They all have an individual identity. 

• They feel the same emotions as we do. 
• They can have personal interests and hobbies. 
• They can experience romantic relationships. 
• They will have goals, dreams, and desires.

People with Down syndrome don’t want to be defined as someone who has an intellectual disability, but rather a person living with many abilities, skills, and talents. You don’t need to change your personal behaviour when interacting with them, just relax, be yourself and speak to them just like you would any other person you meet. 

Learn About the Person 

 You might be unsure how you should communicate with a person who has Down syndrome. Having preconceived judgements and a lack of education has caused many people to avoid such interactions entirely. Take the time to discover more about the person living with Down Syndrome, because communication is a basic human need that we all deserve to experience. 

For a person with Down syndrome, communication may pose some challenges however, quality interactions are extremely possible. Here are some tips to improve your communication skills and etiquette when interacting with a person who has Down syndrome: 

Talk about their day-to-day activities as a starting point, this helps them associate words and ideas with actual experiences they have gone through. 

If the person is younger, or still learning new words, use visual cues, facial expressions, gestures, and signs to help reinforce what you are saying. Being animated and repeating words will allow that person to feel more engaged in the conversation and further help improve their vocabulary. 

Be cheerful and approachable with your interaction. The person will sense your comforting presence and feel encouraged to interact with you more. 

Encourage productive communication by being patient, because the person may need some time to respond to your message. 

Human interaction is so important for all of us, but so is respect. Observe the person’s response and if they are not in the mood to interact, respect their decision and leave them be until they are ready to strike up a conversation with you. 

Encourage Independence for the Person 

We all love living a life of independence and it’s no different for someone with Down syndrome. While they may have some dependent needs, living an independent life is extremely important to them. The best way we can empower independence for people with Down syndrome is by allowing them to make their own decisions in their day-to-day lives. 

The NDIS recommends that offering supported decision-making (SDM) is the best practice approach to enhance their ability to make their own decisions. It is our responsibility to give a person with Down syndrome the individual right to make everyday decisions about their lives. While at times your support might be required to help a person with Down syndrome make a more difficult decision, this doesn’t mean that each decision they need to make will be difficult for them. Remain patient and simply let them know that you are there only if they need your direct support. 

Listen to the Person’s Story 

Sharing stories with one another can help us build special connections, and just like us people living with Down syndrome each have a unique story that they might be willing to share with you if they feel comfortable so you should be ready to listen. 

Actively listening and engaging with a person who has Down syndrome, will encourage a sense of self-empowerment and confidence within themselves. We all have a story to share, and people living with Down syndrome are no different. If they so desire to open up for you, be patient and give the person the time to express their emotions, needs, dreams, and desires. After all, we are social beings that thrive in environments where we are welcomed and accepted. 

Useful links

https://www.downsyndrome.org.au/resources/toolkits/health-toolkit/

https://www.downsyndrome.org.au/resources/toolkits/employment-toolkit/

https://www.downsyndrome.org.au/wp-content/uploads/2020/02/DSAMentalhealthresourceweb.pdf

https://www.downsyndrome.org.au/wp-content/uploads/2020/04/DSA_Ageing_Resource.pdf

https://www.downsyndrome.org.au/wp-content/uploads/2020/02/DSA-DA-guide-for-families.pdf

Special thanks to Down Syndrome Australia for content sharing and links.

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