Health issues associated with Down’s syndrome

What is Down’s syndrome?

Down’s syndrome is often characterised as having a full or partial extra copy of chromosome 21 and is sometimes referred to as Trisomy 21. It is one of the most common chromosomal conditions at birth and affects approximately 1 in 1,000 births worldwide. This means that each year in the UK, around 700 babies are born with Down’s syndrome.

(Source:  National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention)

The presentations of Down’s syndrome can vary drastically. Individuals with Down’s syndrome have mild to moderate intellectual disability, characteristic facial features, and may have treatable medical conditions, such as congenital heart defects, low muscle tone, and low thyroid levels.

Nevertheless, many individuals with Down’s syndrome lead healthy and active lives. As our understanding of Down’s syndrome continues to grow, the clinical and social management of the condition improves – allowing many individuals to have jobs, relationships and even live independently.

What are the health issues associated with Down’s syndrome for children?

The severity of Down’s syndrome can vary drastically, but all people with Down’s syndrome have some degree of learning disability.

There are also several medical conditions that are more common in people with Down’s syndrome, including problems with their heart, hearing, vision, bowel problems and an increased likelihood of infections. Some of these problems can be life-threatening and may require surgery.

Medical complications of Down’s syndrome in children can include:

• Heart problems – around half of children born with Down’s syndrome are affected by a heart condition
• Vision problems – more than half of children born with Down’s syndrome have impaired vision
• Hearing problems – up to three quarters of children with Down’s syndrome have some degree of hearing loss
• Gastrointestinal (GI) problems – GI defects are more common in children with Down’s syndrome and often present as digestive problems or coeliac disease
• Sleep disorders – children with Down’s syndrome are at an increased risk of sleep disorders such as obstructive sleep apnea
• Autism – children born with Down’s syndrome are more susceptible to Autism
• Immune disorders – children with Down’s syndrome may have an impaired immune system, making them more likely to catch infections and more prone to autoimmune disorders and some cancers
• Obesity – when compared to the general population, children with Down’s syndrome are more likely to be obese
• Spinal problems – due to differences in bone structure, some children with Down’s syndrome are at an increased risk of injury to the spinal cord
• Hypothyroidism – children with Down’s syndrome are more likely to have an underactive thyroid. This may present as weight changes, lethargy, and irritability
• Other problems – Down’s syndrome has also been associated with other disorders such as hypotonia (low muscle tone), dental problems, seizures, and disorders of the blood

What are the health issues associated with Down’s syndrome for adults?

Adults with Down’s syndrome are also at an increased risk of all of the health complications that are common in childhood. In addition, adults with Down’s syndrome are susceptible to other adult-onset health issues. These include:

• Dementia and memory loss – adults with Down’s syndrome may develop dementia at a younger age
• Premature aging – adults with Down’s syndrome tend to show signs of aging much earlier than expected. This includes premature difficulties with vision, hearing, as well as physical and cognitive signs of aging
• Mental health disorders – individuals with Down’s syndrome have an increased prevalence of mental health conditions such as ADHD, depression, anxiety, and obsessive-compulsive disorder
• High cholesterol, metabolic syndrome, and obesity – insulin resistance, issues with metabolism and obesity are common amongst individuals with Down’s syndrome
• Diabetes – people with Down’s syndrome are at an increased risk of type 1 diabetes mellitus

What is the life expectancy for people with Down’s syndrome?

The life expectancy for people with Down’s syndrome has increased dramatically as our knowledge and understanding of the condition has grown.

In 1960 the life expectancy of a person with Down’s syndrome was only 10.

Today, the life average expectancy of an individual with Down’s syndrome is almost 60 years, and this figure is continuing to climb.

Source: Down Syndrome Life Expectancy Is Higher, But Not For Everyone (nationwidechildrens.org)

How can I get Down’s syndrome screening during pregnancy?

A traditional screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome is available at 11-13 weeks of pregnancy. Known as a ‘combined’ test, it comprises a blood test and an ultrasound scan.

The blood test looks at markers found in the blood that can indicate an increased chance of carrying a baby with a chromosomal disorder, while the ultrasound scan is used to determine something known as the ‘nuchal translucency’.

The results of both these tests, along with the age of the pregnant woman, determine the risk of carrying a foetus with Down’s, Edwards’ or Patau’s syndrome.

In the case of a high-risk result, the pregnant woman will be offered the chance to receive non-invasive prenatal genetic testing (NIPT), another screening test, or diagnostic testing.

Diagnostic testing typically involves amniocentesis or chorionic villus sampling (CVS). For amniocentesis, a long, thin needle is inserted into the abdomen to obtain a sample of amniotic fluid for testing. For CVS, a needle is inserted into the womb to obtain a sample of cells from the placenta.

These tests will provide a definite answer as to whether or not the baby has Down’s, Edwards’ or Patau’s syndrome. However, both tests are invasive and carry a small risk of miscarriage.

For this reason, many pregnant women are choosing private NIPT screening, as it is non-invasive, and available to all expectant mothers irrespective of whether they were classified as high risk by the combined test.

For an AlphaBiolabs NIPT, all that’s required is a blood sample, which is collected from the mother’s arm. This makes the test 100% safe for mum and baby, with no risk of miscarriage.

The test uses next-generation sequencing to analyse cell-free foetal DNA (cffDNA) – fragments of the baby’s DNA that naturally circulate in mum’s bloodstream during pregnancy – and detect chromosomal abnormalities, including Down’s syndrome.

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