What is Downs Syndrome
Downs syndrome is a genetic conditions that typically cause a level of disability and characteristic physical features. In England and Wales around 775 babies are born with this condition each year. Some of these characteristics include...
- Eyes that slant upwards and outwards.
- The back of the head ma be flat.
- Hypertonia - reduced muscle tone.
- At birth a smaller than average weight and length.
- A small mouth that may have a protruding tongue.
Children with this condition are more likely to look like their mother or father or perhaps another family member rather than other children with downs syndrome. They may share some physical characters but they will not all look the same, they will also vary in the level of learning difficulty and personality.
Screening for Downs syndrome
In some cases the condition can be identified by a screening test for downs syndrome, however these tests do not give a definite answer as to whether the baby will have the condition. If the screening test states that there will be a chance that the baby will have the condition then there are further test during the pregnancy to confirm it..
What causes Down Syndrome
This condition is caused by an extra copy of the chromosome 21 in a baby's cells. This is inherited In most cases however it could be the result of a one off genetic mistake Even though there is a small chance of the child having Downs syndrome in every pregnancy but the risk increases if the mother is older. There is no evidence that anything can be done to reduce the risk of Downs syndrome before or during the pregnancy.
What is life like with Downs syndrome?
There is no cure for downs syndrome but there are different ways that can help the child can develop a healthy lifestyle and will be able to gain an appropriate level of independence that is right for them. These include...
- Having access to good healthcare from a range of specialists.
- Early intervention programmes that supply support for those with downs syndrome and the families of those people.
- An ordinary family life.
- Education and support groups that provide appropriate information and advice.
Because education and support has improved people with downs syndrome have been able to gain more independence and do things like being able to leave home. gain employment, form relationships and lead independent life's. However because each case is different it is not possible to predict how the child's life will develop.
Associated health conditions
There are a number of different disorders that are commonly associated with downs syndrome, these include...
- Hearing and vision problems
- Heart conditions such as congenital heart disease
- Thyroid problems such as an underactive thyroid
- Infections such as Pneumonia
These children will be checked over by a paediatrician more often than other children to ensure that any problems can be picked u as early as possible to prevent them form developing more.
Reference
Accessed 20/10/15
http://www.nhs.uk/Conditions/Downs-syndrome/Pages/Introduction.aspx
Musculoskeletal conditions
Hip instabilities - Eight percent of children with downs syndrome will develop abnormalities of the hip, the most common conditions in dislocation of the hip, this is also called subluxation. This is where the femur moves out of the socket which is formed by the pelvis. This dislocation occurs when there is a lack of the connective tissue that keeps the hip together in a normal hip and a low muscle tone which is commonly found in children with downs syndrome. This instability is usually found in children between the ages of 3 and 13 rather than at birth, the common sign is a limp and the child may or may not feel pain. One way to prevent this dislocation form happening is to build the muscle around the hip, so that there isn't a low muscle tone which can cause this. Building the muscle can be done by aerobic exercises such as dance. When doing this it is important the right technique is used to avoid injury, when the right technique is used the muscles can be strengthened making it less likely for the hip to dislocate.
Knee instabilities - Twenty percent of people with down syndrome will develop knee abnormalities, most of these are when the kneecap moves further then a normal kneecap, this is known as subluxation, this will not cause pain. However the kneecap can also dislocate where it completely moves out of its position, if this happens then the individual will suffer sever pain. Those will knee instabilities will be able to walk however there will be a decreased range in motion. If no treatment is used for this the condition will get worse, for mild cases braces may be useful, however in severe cases surgical correction will be required.
Foot conditions - The majority of people with downs syndrome will have flat foot, this is also know as pes planus. In mild cases the heel of the foot is in a neutral position however in more severe cases the heel of the foot rotates and therefore the person affected walks on the inside of the feet. This condition could result in the pointing of the front part of the feet away from each other, many cases of this can be helped by orthotic however some cases may need surgical correction.
Arthritis - This is the inflammation of a joint that will cause pain and swelling of the joint, there is a higher incidence of joint problems in people with downs syndrome. If the joint pains are not inflammatory then the most likely cause is hypermobility of the joints. The treatment of arthritis is the same for people with and without downs syndrome, there is no cure for this condition however there are treatments that ca reduce inflammation in joints, relieve pain, prevent or slow any damage to the joints and reduce disability. Medication is used in most cases but surgery may be needed in most cases.