Ears and hearing Expand The majority of individuals with Down syndrome will have had otitis media with effusion (glue ear) in childhoodwhich may have required treatment with ventilation tubes (grommets). In many the glue ear issues resolves in their adolescent years however in a small proportion of individuals resultant perforations of the ear drums may persist. The ears of individuals with Down syndrome should be examined at the yearly health check for the evidence of perforations. As a result of narrow external auditory canals which are associated with Down syndrome, wax accumulation can obstruct the ear canal. Regular dewaxing in the GP practice can keep the canal open. Increased sensitivity to sounds Hyperacusis is an increased sensitivity to sounds. It means that individuals may feel pain or discomfort when they hear sounds that most people are able to tolerate. Hyperacusis is more prevalent in individuals with Down syndrome. It may affect individuals in different ways, for example refusal to go to large indoor areas e.g. shopping centres, or hyperacusis to certain sounds, for instance rattle of cutlery. If suspected, a referral to a specialist in audiological medicine or local audiology department is recommended. Early onset hearing loss Early onset age-related hearing loss (early onset presbycusis) is common in individuals with Down syndrome and easily overlooked. The hearing loss may start in early adulthood. A yearly hearing assessment will detect the onset of the hearing loss. Consideration should be given to provision of hearing aids when the hearing thresholds are significant enough to disrupt daily activity, for example repeated requests to turn up the volume on the TV, radio or personal audio devices or difficulty to hear in the presence of background noise.
Epilepsy Expand In Down syndrome epilepsy has two peaks of onset, the first is the development of epilepsy in infancy and the second is associated with the onset of dementia. Epilepsy in Infancy Epileptic spasms (sometimes called infantile spasms, West Syndrome or Salaam Attacks) are uncommon epileptic seizures which can occur in infants with Down syndrome. They also occur in infants without Down syndrome, occurring in less than one in every 2000 infants. They are more likely to occur in children who have some difficulties with their development. Epileptic spasms occur in around 5% of children with Down syndrome, making them much more likely to occur than in other children. Epileptic spasms usually occur in children aged less than 12 months. They most often start between 3 and 6 months old. Families may notice that their child’s head will suddenly nod forwards. Sometimes the arms or legs will also quickly move and their child may become upset. The movements are very brief (lasting less than a second), but may occur in “clusters” where several of these movements occur close together. These clusters may happen after the child wakes from sleep. Epilepsy in Adulthood Over 80% of people with Down syndrome and dementia develop seizures and this may be the presenting symptom of the dementia. There may be a change in seizure frequency, pattern or severity associated with the dementia compared with their previous epilepsy characteristics.
Thyroid disorder Expand Thyroid problems are more common in children and adults with Down syndrome than in the general population. The thyroid gland can be underactive (hypothyroidism) or overactive (hyperthyroidism). People with Down syndrome usually tend to develop hypothyroidism but sometimes they can have hyperthyroidism although this is much less common. Hypothyroidism can be present from birth but this does not happen very often. It is more likely that people with Down syndrome will develop hypothyroidism as they get older. This usually happens as a result of autoimmunity (the body’s defence system attacks itself, this is sometimes also called Hashimoto’s hypothyroidism) although there can be other causes. People with Down syndrome need regular screening blood tests throughout their lives. Babies born with Down syndrome should have a routine blood spot test in the first six weeks of life followed by a screening blood test when they reach their first birthday. Children with Down syndrome should have a screening blood test at least every two years.
Sleep problems Expand Sleep problems are common in children with Down syndrome and are often overlooked. These can be behavioural or physical in nature (related to sleep disordered breathing) or a combination. Bed time routines, consistent bedtime and waking times, going to bed when tired, falling asleep without parents, avoiding excitement near bedtime are some of the things that help to lessen the likelihood of behavioural sleep problems. Sleep disordered breathing, also experienced by adults with Down syndrome, is characterised by repeated pauses in breathing during sleep (sometimes referred to as sleep apnoea). Poor sleep can lead to daytime sleepiness, impaired daytime function, mood disturbances and irritability. Behavioural problems may also develop. Sleep problems should be investigated by a specialist to exclude underlying causes.
Eyesight Expand Issues with eyesight may affect children and adults with Down syndrome. As for everyone of all ages it is important to have regular sight tests. Eyesight in children with Down syndrome The eye problems which may affect children with Down syndrome are commonly those which occur in any group of children – they just tend to occur more frequently and sometimes to a more marked degree, therefore it is especially important to have their eyes checked. The treatment of children with Down syndrome usually differs very little from that of other children. Because of their learning difficulties children with Down syndrome sometimes need vision tests designed for younger children. They may find it easier to sign rather than name pictures verbally. Children with a heart condition do not usually have a problem if they need eye surgery, but advice from the cardiologist should be sought. Eyesight in adults with Down syndrome The eye conditions that occur in adults with Down syndrome are not unique to the syndrome – all occur in the general population. However, some conditions are more common in Down syndrome, or occur at a younger age in Down syndrome.
Neck instability Expand Some people with Down syndrome have neck instability (or craniovertebral instability) and it is a subject that sometimes causes worry for parents and professionals alike. The joints at the top of the spine and at the base of the skull allow us to shake and nod our heads. In people with Down syndrome, the ligaments, tissue that connects one bone to another bone thus holding a joint together, are stretchier. So joints may be looser and more flexible which can lead to slippage of the vertebrae; these are the bones that surround and protect the spinal cord. Problems can develop if a vertebra slips too far and puts pressure on the nerves in the spinal cord. This can be a gradual process or it can happen if a person is jolted suddenly such as when a whiplash injury occurs. In people with Down syndrome, the most common place for this slippage to happen is at the first and second vertebrae of the neck (known as ‘atlanto-axial instability’). Similar problems can also occur between the base of the skull and the atlas vertebrae (known as ‘atlanto-occipital instability’) although this isn’t as common as atlanto-axial instability. These two conditions are collectively known as craniovertebral instability. Sudden dislocation of the neck (such as with whip-lash injury) probably occurs more commonly in people with Down syndrome than in the rest of the population although it must be stressed that it is still very rare. A doctor suspecting that craniovertebral instability may be present and causing problems in a person with Down syndrome will probably refer that person to either an orthopaedic surgeon or a spinal neurosurgeon.
Heart problems Expand Heart problems are very common in people with Down syndrome and may affect children and adults. Roughly half of babies born with the condition will have a heart defect but less than one in five have a serious problem. Where children have a heart problem, it may be a relatively mild condition or it may be a more serious complication that means the child will need surgery. It is important to identify any serious problems in the first two months of life because early treatment may be needed. The UK Down’s Syndrome Medical Interest Group (DSMIG) recommend that by 6 weeks of age a formal heart assessment including echocardiogram has been carried out which should identify nearly all serious problems. Regular medical reviews should be carried out throughout life. This will allow prompt diagnosis and management of previously undiagnosed cardiac disorders or new problems having developed.
Coeliac disease Expand Coeliac disease is a type of malabsorption where the bowels are unable to absorb particular nutrients from food. Coeliac disease is more common in people with Down syndrome. In coeliac disease, the body develops an allergy to part of a protein called gluten, which is found in wheat and some other cereal grains. Eating gluten–containing foods in those with coeliac disease causes damage to the wall of the small intestine, and as a result it is not able to work effectively, and food is not properly absorbed. Symptoms include abnormal stools (diarrhoea, frothy, foul smelling or bulky stools are typical), swollen stomach, tiredness and irritability, and poor growth. Anaemia may also result. If coeliac disease is suspected blood tests are usually done to look for antibodies that the body makes in response to gluten. These are sometimes positive in those who do not have coeliac disease so the diagnosis needs to be confirmed with a biopsy. Treatment of coeliac disease is by special diet excluding gluten. This should be supervised by a dietitian.
Oral health Expand Establishing good dental habits and having regular dental checks can reduce the likelihood of dental problems in the future. There are some dental issues that are more common in people with Down syndrome but these also occur in the general population. Dental issues may occur in people with Down syndrome because of their smaller jaws and palate (the roof of the mouth) and because of the way in which their primary teeth (milk teeth) and permanent teeth develop. As there is no dental condition that is unique only to people with Down syndrome, a general dental practitioner can offer advice and any necessary treatment.