Medical/Health Issues
It is known that children with Down syndrome are more at risk than the general population of experiencing a wide range of medical and/or health problems and that these problems may persist throughout their lives. However it should be noted that not every baby with Down syndrome develops problems and for those that do, most problems are now treatable. Very few babies and/or children will be affected by all of the problems presented here.
The information provided here is meant as a guide only. If you have any questions or concerns about your baby’s health and/or development the Society recommends you speak to your GP, paediatrician or other relevant professional.
Dr Len Leshin is a Paediatrician in the USA and is also the father of a teenage son with Down syndrome. His website Down Syndrome: Health Issues is a good reference point.
Hearing Problems
Hearing will be an ongoing issue for more than half of all children with Down syndrome so it is very important to have your child’s hearing tested and their ears physically assessed by an ENT on a regular basis. Poor hearing will have a detrimental affect on your child’s speech development.
Smaller nasal passages and ear canals are thought to be contributing factors in repeated episodes of otitis media (middle ear infection), which can be treated with antibiotics. Fluid in the inner ear can accumulate and whilst it may not be infected it can cause hearing loss. Commonly referred to as ‘glue ear’, treatment involves surgically inserting tubes (‘grommets’) to help the fluid drain.
Vision Problems
Vision will also be an ongoing issue for children with Down syndrome with a significantly higher proportion needing glasses before they start school as compared with the general population. As well as sight problems other diseases of the eye can be present including blepharitis (inflammation of the eyelids) and conjunctivitis. It is important to have your child’s eyes checked as early as 3 months of age and establish regular patterns for the rest of their life.
Respiratory Problems
Poor muscle tone, heart problems, aspiration of stomach contents and a weakened immune system can all contribute to respiratory problems and/or infections in people with Down syndrome. It is important to monitor your child closely when they have a cold as the factors mentioned above may contribute to the development of pneumonia.
Sleep apnoea refers to a temporary disruption to breathing whilst asleep. In very severe cases sleep apnoea may compromise the amount of oxygen reaching the brain, which is potentially very serious. Fortunately for many people with Down syndrome the cause of the sleep apnoea is likely to be due to large and/or enlarged adenoids and/or tonsils which can be corrected through surgery. This type of sleep apnoea is referred to as ‘obstructive’ and symptoms include restless and/or broken sleep and snoring. Your Doctor will refer you to an ENT if you are concerned.
Thyroid Problems
The thyroid gland is the largest endocrine gland in the body and can be found in the lower part of the neck. The hormones secreted by the thyroid gland are responsible for regulating growth, metabolism and heart rate hence it is very important that the thyroid functions properly.
In Australia it is common practice for all babies to undergo a thyroid screen in their first week of life to check for abnormalities in thyroid function. Whilst a negative result can rule out any congenital (i.e. present at birth) thyroid problems, a baby with Down syndrome is at an increased risk of developing problems (usually hypothyroidism – underactive thyroid) in the future and regular thyroid function tests are recommended. Hypothyroidism is treated with medication.
Congenital Heart Defects
A congenital heart defect refers to a heart problem that is present at birth and it is estimated that approximately 30-50% of babies born with Down syndrome will have a heart defect. At the time of birth (or very soon after) a paediatrician will listen to your baby’s heart and if at all concerned he/she will refer your baby to a cardiologist. Defects can be detected through an echocardiogram.
There are many different heart defects and all vary in severity but the most common ones associated with Down syndrome are:
- Atrio-Ventricular Septal Defect (AVSD)
- Atrial Septal Defect (ASD)
- Ventricular Septal Defect (VSD)
- Tetralogy of Fallot (TOF)
- Patent Ductus Arteriosus (PDA)
Explanations of these (and other) defects – including diagrams – can be found on the Royal Children's Hospital's (RCH) website.
RCH is located in Melbourne and the majority of children with heart defects in South Australia are sent here to undergo surgery. All details relating to a trip to Melbourne will be explained by a Social worker attached to the Cardiology department of the WCH.
Some defects can be corrected through catheter surgery which is generally conducted in Adelaide at the Women’s and Children’s Hospital (WCH).
Thanks to advances in medical technology the majority of babies born with heart defects can have them successfully corrected through surgery or the problem controlled with medication. Children with heart defects will usually have to be reviewed by a Cardiologist on a regular basis.
Gastrointestinal Problems (including Coeliac Disease)
The Gastrointestinal (GI) tract includes the mouth, oesophagus, stomach, small intestines (or bowel), large intestines and the anus. Problems with the GI tract can either be due to structural or functional abnormalities.
Structural abnormalities result from imperfect development and/or blockages and are generally identified shortly after birth. If your baby suffers from excess vomiting, lack of faeces and swelling of the abdomen doctors may suspect a structural abnormality. Examples include Hirschsprung’s disease, duodenal atresia, pyloric stenosis and imperforate anus. These problems can usually be corrected through surgery in the first few days of life.
Functional abnormalities occur because some part of the GI tract is having trouble doing its job properly. A very common functional abnormality is gastroesophageal reflux (GER), which occurs because either the oesophagus is unable to propel food into the stomach correctly or the stomach is emptying too slowly. GER is a common problem in all children but is more prevalent amongst those with Down syndrome and is more than likely exacerbated by poor muscle tone. GER is generally treated with medication and in many cases the child will grow out of the problem.
Malabsorption disorders are also functional abnormalities and occur because the bowels are unable to absorb particular nutrients from food as it passes through. One specific malabsorption condition, Coeliac Disease (CD), is more prevalent amongst children with Down syndrome than the general population. Individuals with CD are unable to tolerate gluten and the treatment requires a gluten free diet. CD can be indicated via a special blood test but a biopsy is generally necessary to confirm the diagnosis.
Hypotonia and Musculoskeletal problems
Most babies with Down syndrome will be described as hypotonic which means that they have poor or decreased muscle tone. This can easily be seen when your baby is picked up as they feel ‘floppy’ and need a lot of support. Hypotonia contributes to delays in developing gross motor skills and varies from mild for some to more pronounced for others.
Accessing the physiotherapy service through Disability SA will help your child strengthen the muscles needed to learn to sit, crawl and walk properly.
Problems involving the bones and joints are referred to as musculoskeletal or orthopaedic problems. Children with Down syndrome are more likely to have very loose ligaments (ligament laxity), which in turn leads to excessive joint flexibility. Although relatively uncommon, problems can arise in the following areas:
- Spine
- In early childhood most children with Down syndrome will be tested for Atlantoaxial instability (AAI), which is a condition whereby loose muscles and ligaments in the upper part of the spine can result in vertebrae pressing on the spinal cord. Cervical spine X-rays are used to determine AAI and if instability is found to be present your child will have to abstain from certain strenuous physical activities. In very sever cases surgery may be required. (Note that to participate in the Special Olympics an individual must undergo AAI screening and receive clearance).
- Scoliosis, or curvature of the spine, is another spinal problem that may arise.
- Hip – dislocation (subluxation)
- Knee – instability of the kneecap
- Foot – flat feet
Your medical practitioner will check for these during regular physical examinations.
Skin Problems
More information will be available shortly.
Leukaemia
More information will be available shortly.
Epilepsy
More information will be available shortly
Alzheimer’s
More information will be available shortly
