Health Checks for People with Down's Syndrome
There are many medical problems that are commonly found in people with Down's Syndrome as well as cardiac conditions. These are usually not major problems in themselves, but they can affect health and development and should be screened for so that early diagnosis and treatment can be made. Sometimes doctors are not fully aware of these issues in relation to Down's Syndrome and they may put them down to being part of the syndrome itself or even related to the heart condition.
It is important for everyone with Down's Syndrome that these medical problems are recognised and treated, but particularly for those with cardiac issues as developmental delays may be attributed to poor health and hospitalisation due to the heart and thus other problems may be overlooked. So be persistent in asking that the relevant tests are carried out according to the guidelines issued by the Down's Syndrome Medical Interest Group (www.dsmig.org.uk).
About 47% of babies born with Down's Syndrome have congenital heart defects and not all of these will exhibit symptoms in the first few months of life. Accordingly all babies diagnosed as having Down's Syndrome should be screened for cardiac problems and this should be done within the first six weeks after birth to ensure that serious abnormalities can be treated at the optimum time.
Clinical examination alone is not sufficient and should be carried out together with either an echocardiogram (performed by someone with appropriate paediatric experience) or with an electrocardiogram (ECG) and chest x-ray (again these should be examined by someone with appropriate paediatric experience). Where problems are suspected as a result of these tests, there should be immediate referral to a paediatric cardiologist so that if surgery is necessary it can be performed before pulmonary vascular disease develops.
It is also known that there is an increased incidence of mitral valve prolapse (where the mitral valve balloons back into the left atrium when the left ventricle pumps, sometimes allowing blood to leak backward) and aortic regurgitation (where the aortic valve allows backflow from the aorta to the left ventricle) in adults with Down's Syndrome. This puts them at risk of endocarditis and antibiotic cover will be required when any dental procedure is carried out.
The Down's Syndrome Medical Interest Group recommends echocardiogram screening early in adult life for everyone with Down's Syndrome, and prophylactic cover (medication to guard against endocarditis) for anyone in a risk situation who has not had an echo as an adult.
Cervical spine (atlanto-axial instability)
A small number of people with Down's Syndrome are at risk of spinal injury due to a weakness in the joint at the top of the spine. There is currently no way of screening for this weakness and there is no reason to exclude sporting activities as the risk is small, although care needs to be taken when giving anaesthetic to people with Down's Syndrome and caution is advised should they be involved in a road traffic accident.
Should a person with Down's Syndrome develop unexplained neck pain, pain behind the ear, weakness in the arms and legs or problems with bladder or bowel functions, immediate referral should be made to the GP with a view to urgent investigation of the upper neck.
Annual dental check ups are very important for anyone with a heart condition as oral hygiene plays an important part in the prevention of bacteria entering the blood stream where they can cause endocarditis. (see Dental Care Topic Note).
Although it is recognised that people with Down's Syndrome tend to be shorter than their peers, there are occasionally medical problems which can affect growth which need to be identified and treated. Regular weight and height checks should be made during the first two years of life and then annually throughout childhood and on a regular basis in adulthood. These should be recorded on the specific growth charts that are available for Down's Syndrome.
Failure to gain weight as a baby or sudden weight loss or gain later in life needs to be taken in consideration with general health and nutrition as it may indicate an underlying medical problem that needs investigation.
A large percentage of people with Down's Syndrome have significant hearing loss, most frequently due to glue ear (otitis media with effusion). First assessments can be carried out a few months after birth, but there should be provision for continued assessment and treatment of any hearing loss as hearing plays such a huge part in speech and language development.
There is a higher incidence of thyroid problems in people with Down's Syndrome than in the population as a whole - Hypothyroidism (underactive thyroid) is more common although Hyperthyroidism (overactive thyroid) is also found. Either condition needs to be treated as the thyroid gland is responsible for controlling the body's metabolism and incorrect levels of thyroxin (the hormone secreted by the thyroid gland) can affect growth and development as well having some uncomfortable side effects such as lethargy, weight gain or weight loss and palpitations.
Clinical examination alone is not sufficient to identify thyroid problems in those with Down's Syndrome. Regular blood tests of thyroid function need to be carried out.
All newborn babies in the UK are routinely given the Guthrie test which screens for many disorders including hypothyroidism. For those with Down's Syndrome regular testing at least every two years should be carried out from age one. Currently this usually requires blood to be taken with a syringe, but annual testing using fingerprick blood, which is far less traumatic, is being evaluated and is likely to become the method of choice in many areas. Annual testing is preferable in early childhood and introduction of the fingerprick test means that this can be achieved with little upset to the child.
You can download the booklet 'Thyroid disorder- Notes for parents and carers' from the DSA website at http://www.downs-syndrome.org.uk/download-package/11-thyroid-disorder/.
There is a high incidence of vision problems in people with Down's Syndrome, these include not only long and short sight but also poor focusing at near, squints, congenital cataracts, nystagmus and keratoconus. Vision should be checked and monitored regularly throughout life. Eye examinations are possible even in very young children unable to read a letter chart.
The Down's Syndrome Vision Research Unit is studying eye defects and visual development in individuals with Down's syndrome and their effect on learning. You can read the latest research findings at http://www.cardiff.ac.uk/optom/eyeclinic/downssyndromegroup/contact/contactdetails.html.
Having trouble finding spectacle frames to fit your child? Try Specs4US http://www.specs4us.com.
One of our members who was an optician and has worked at various opticians in the past gave this advice with regard to charges for special adaptations to glasses to fit our children -
"It depends on where you go for glasses as to whether you will be charged for extra's or not. Bigger companies may not charge, whereas small more local opticians may as they usually have to pay more to
the wholesaler as they buy in smaller quantities (this is the retail side of things that a lot of people dont realise)which explains why different opticians charge different prices.
It's the same with lenses, the bigger optical companies can buy in bulk so they get cheaper wholesale prices and that can be passed onto the customer.
PLEASE PLEASE SHOP AROUND - You do not have to buy your glasses from where you had your test, just ask for the prescription and "voucher". The voucher is a yellow form from the opticians or a white form from the hospital and
ask before you purchase anything. Some opticians supply all kiddies frames free and if they can claim the small glasses supplement on the voucher they may not charge for something like curl sides.
One thing I would say is I HATED CURL SIDES as they are a pain for children to put their glasses on independantly, if you want to teach a child how to put their glasses on and off AVOID them.
Correctly fitted glasses should not fall down or come off your face, it is all down to proper fitting, so curl sides may not be needed. Make sure you ask for a dispensing optician to fit your glasses as they
have the experience and knowledge (or should do) to make sure you get the best fit. Also try getting metal frames with " flexi sides" the nose pads can be adjusted on there to make a better fitting and also the flexi sides makes
it easier if the child pulls the glasses off (which they usually do) and they are stronger and more robust. Metal frames are also easier to repair"
Additional sources of information