Down syndrome is known to increase the chances of a person having certain medical issues, however it is important to highlight that not all people with Down syndrome will face all (or in many cases any) of the related issues.

What are the more common medical issues associated with Down syndrome?

Approximately 40-50% of babies with Down syndrome are born with congenital heart defects and for this reason all babies born with Down syndrome will be screened for heart problems at birth. Not all babies found to have heart defects will require surgery and for those that do the prognosis is generally quite good.

Newborns also undergo blood testing to check thyroid function. Both hyperthyroidism (overactive thyroid) and hypothyroidism (underactive thyroid) occur at a greater frequency in people with Down syndrome than the general population. Many of the symptoms of thyroid dysfunction overlap with some of the more common characteristics of Down syndrome so an annual blood test is recommended as clinical diagnosis is not always accurate.

Hypotonia, or low tone, is one of the most common characteristics of Down syndrome and is usually recognised in babies as a floppy feeling.  Essentially, low tone can be defined as muscles lacking stamina. In a child with Down syndrome this will usually mean that they may seem able to do everything the same as other children, but if they are using the same muscles for an extended amount of time they will tire faster than a child without Down syndrome.

 If you think about the way our bodies are structured, you will see that our muscles act as supports for our bones and joints. By weakening this support, hypotonia can also result in loose ligaments and hypermobility. Many children and adults with Down syndrome are able to easily hyper-extend their joints, however this should be discouraged as it can increase the likelihood of developing arthritic conditions later in life.

Hearing and vision difficulties are also quite common in people with Down syndrome, with approximately 78% experiencing hearing loss of some degree and almost all demonstrating difficulty with visual acuity (clarity). These difficulties can occur for a number of reasons and as such, regular vision and hearing tests are recommended.

The Down Syndrome Preventative Medical Checklist provides guidance to medical professionals as to which tests and checks should be done over the lifetime. You can find the schedule here.

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