People with Down syndrome are now living longer, and this is due in part to much better health care and a healthier, more active lifestyle.  Specialist Health Services for people with Down syndrome are not available in WA, so families usually seek out a local GP they are comfortable with and can talk to.  Considering that the average Doctor may only see one or two patients with Down syndrome in the course of his working life, it is understandable that he will be building up knowledge and understanding as time goes on.  

Treating someone with Down syndrome is largely the same as treating anyone else.  The difference is that there are a number of conditions that are more prevalent in people with Down syndrome.  Being aware of these conditions is very important for fully understanding a person's general health and well being.  

First Four Weeks of Life

Heart Problems

Your newborn baby should be thoroughly examined for any heart conditions as this is quite a common problem in Down syndrome.  The examination should check for anything that can cause heart murmurs, unusual heart rate and cyanosis (a bluish colouring to the skin which indicates there is not enough oxygen in the blood and points to a heart problem).  Not all heart conditions are detected at birth however, some are not discovered until the baby is several months old.

Hip Displacement

Babies with Down syndrome tend to have poor muscle tone, a condition that can cause dislocation of the hips before birth.  This happens to other babies too, but is more common in babies with Down syndrome so it is important your baby's hips are checked.

Thyroid Screen

Every baby has a thyroid screen heel prick or Guthrie Test at five days to check for any abnormalities in thyroid function.  This test is particularly important for people with Down syndrome because as they become older they are prone to thyroid problems, especially hypothyroidism (an under-active thyroid gland).  This gland is located in the lower part of the neck and it is very important that it functions properly because it makes the hormones that regulate normal growth and metabolism

Gastrointestinal Problems

One problem that can arise with babies with Down syndrome is a blockage or some abnormality of the intestines.  The symptoms become apparent in the first few days of life and include a great deal of vomiting and/or lack of faeces.  Should these symptoms occur then a check should be made for any gastrointestinal problems.

Complete Blood Count

A test is done for babies with Down syndrome to check for some abnormalities that may occur in the blood.  A sample is taken and all the blood cells are counted in order to diagnose any infections and some abnormal conditions of the body.  The test is mainly for leukaemia, a condition that may occur in Down syndrome.  However, the chances of a child with Down syndrome having leukaemia are low although higher than the population average.

Chromosome Studies

It is the usual procedure after the birth of a baby with Down syndrome for a chromosome study to be done.  Chromosomes contained in the egg and sperm determine the physical characteristics or sex of the child.  An individual's chromosomal characteristics are called his or her karyotype, so that their number and arrangement can be examined.  This determines which type of Down syndrome a child has i.e. whether it is likely to occur again within the family and it also confirms the diagnosis of Down syndrome.

Hearing Check

It is very important for newborn babies with Down syndrome to have their hearing tested by three months of age.  This is just a case of seeing if the child responds normally to sound.  A check should also be made for neo-natal otitis media or middle ear infection, a common problem in Down syndrome from birth.

Constipation

This is not uncommon in babies with Down syndrome and can be treated effectively by your doctor.

First Year of Life

All babies have medical checkups during their first year of life.  These examinations check for the usual things and also the special problems they can be prone to, for example, thyroid deficiency.

Hearing Test

A hearing test called a baseline auditory evaluation should be carried out as soon as possible after birth and at least before 3 months of age.  This is a test of hearing function which determines the site and cause of impairment, if any is present.  Impedance testing is also carried out to see whether there are any blockages which may prevent normal hearing, such as middle ear infections where there is a build-up of fluid behind the eardrum. 

Eye Examination

These problems usually take the form either of nystagmus (a rapid, rhythmic movement of the eyeball) or strabismsus.  Strabismus is the medical term for crossed eyes, which do occur normally in the first three to six months of any baby's life.  If this condition continues, however, it can cause poor sight but can usually be corrected if caught in time.

One Year to Puberty

A general pediatric examination and hearing test should be carried out every year and a number of other tests should be done periodically.

Thyroid Screen

This deficiency is indicated by a general slowing down, dry skin, sleepiness, irritability, obesity etc.

Eye Test

Poor eyesight is a fairly common problem for children.  Your child should be regularly assessed to determine if he or she needs glasses.  You should also ask your child's teacher if there are any signs of short-sightedness, as this will only really become a problem when school begins, unless it is severe.

Orthopedic Screen

A foot examination should be carried out by a podiatrist from time to time to check for any problems.  Down syndrome tends to cause poor muscle tone which may result in flat feet or other troubles.  If these problems are diagnosed early then treatment can be undertaken.  Your child should also be checked for curvature of the spine, also caused by poor muscle tone.

Vitamin and Mineral Deficiencies

Vitamin and mineral deficiencies can be a problem if there is difficulty in absorbing some of the nutrients.  It is a good idea to keep an eye out for the symptoms which can accompany such deficiencies and consult your doctor.  The doctor may prescribe vitamin and mineral supplements and it is just as important to watch for signs of vitamin overdose.

Neck X-ray

Children with Down syndrome tend to be more at risk for atlanto-axial dislocation than other children.  This is a dislocation of the vertebrae in the neck.  Injuries to this part of the spine can cause muscle weakness, difficulties in walking, numbness and even quadriplegia.  A cervical or neck x-ray in the past was regarded as necessary before your child becomes involved in any vigorous sport such as trampolining or somersaulting.  However current studies suggest routine screening is no longer necessary.  Be aware of neck stiffness or other related symptoms your child may have and see a doctor immediately.

Organisations such as 'Riding For The Disabled' still require a neck x-ray before participation.

Diabetes

Diabetes can occur in children with Down syndrome.  Unlike the under functioning thyroid, diabetes tends to occur in younger children and is usually noticeable.  The child is unwell with symptoms such as increased drinking, increased urine, increased eating in the presence of weight loss and lethargy.

Further Information

Links

Dr Len Leshin's medical website - Down Syndrome:Health Issues  http://www.ds-health.com/ 

Download a Down Syndrome Health Management Tip Sheet from DSC

Health Watch for Individuals with Down Syndrome  www.downsyn.com/guidelines/healthwatch.php

Down Syndrome Health Care Guidelines (1999 Revision) Record Sheet  www.downsyn.com/guidelines/recordsheet.html

Resources

Selikowitz, Mark  Down Syndrome : the facts

Down Syndrome : the first 18 months [DVD]

Medical Guidelines for Children with Down Syndrome : a guide for parents and carers

Medlen, Joan Guthrie  The Down Syndrome Nutrition Handbook : A Guide to Promoting Healthy Lifestyles