Sunday, 22 September 2013 04:57

Down's syndrome

Written by 
Rate this item
(2 votes)

Down’s syndrome

 

 

 

 

 

Down’ Syndrome is a chromosomal abnormality which affects one in every 800 live births (Gilbert, 1996). Down’s syndrome is very dependent on the mother and the age of the mother when she has the child. The risk of Down’s syndrome rises sharply when the age of the mother is over 35 years of age. Both boys and girls can be affected.

 

What causes Down’s syndrome?

 

Down’s syndrome occurs when there is a presence of an extra chromosome 21. This means that the total count of chromosomes would be 47 instead of the usual 46 (Gilbert, 1996). Gilbert (1996, p89) notes that 47 chromosomes occur when chromosome pairs fail to separate during the production of the egg or sperm known as non-dysjuntion. Hartley, (1986) notes that the risk of giving birth to a Down’s syndrome baby, due to nondysjunction, rises with maternal age. At 30 the risk is estmated to be 1 in 800, while at 44 years this risk can be as high as 1 in 50 (Gilbert, 1996).

 

What are the symptoms of Down’s syndrome?

 

People with Down's syndrome have many characteristics in common but also have individual features and personalities. Height tends to be small for age; limbs are a little short and hands are broad. The little fingers are usually curved and short and a single crease in the palm commonly occurs. Feet tend to be flat and broad with a wide space between first and second toes. Eyes are obliquely set slanting up and outward and the upper lid has an extra fold at the inner angle of the eye (Lindsey, 1989).

 

Lindsey (1989) notes that there is also a white speckling of the iris of the eye known as Brushfield spots. The nose has a broad bridge which is rather flat, as is the face. The roof of the mouth is high, arched and short and the tongue furrowed and relatively large. Gilbert (1996) also outlines that Downs’ Syndrome has teeth that usually develop late and may be abnormal in size, shape and alignment. She continues by stating that the ears tend to be small and are usually low set. The head is wide in relation to length (brachycephaly) and hair is straight. Many other abnormalities may occur including cataracts and squints (strabismus) of eyes, hearing impairment, webbing of fingers or toes and malformations of the heart and bowel (Gilbert, 1996).

 

Management of Down’s Syndrome

 

 

Children with Down’s syndrome tend to mature along the same lines as his/her peers, although at a slower rate. Physiotherapy is recommended at an early stage in life to help with movement (Gilbert, 1996). Children with Down’s syndrome feel the affects around the age of 7 or 8 when they begin noticing that they are different with their small stature, poor co-ordination and relatively weak muscles (Lindsey, 1989). It is important that a comprehensive assessment is conducted at this age to work on a plan for the future. Gilbert (1996) notes that some type of special schooling or extra resources may be needed.

 

Hartley (1986) notes that eye abnormalities like squints need to be assessed and corrected to avoid amblyopia (also known as lazy eye, is an eye disorder characterized by an impaired vision in an eye that otherwise appears normal). Thyroid disease must also be monitored and checked. Gilbert (1996) notes that hair loss and hoarsening of the voice should alert carers to the possibility of hypothyroidism. Treatment with thyroxine will help in managing this issue.

 

Lastly weight control is imperative with children with Down’s syndrome. Excess weight is often gained due to the relative immobility of these children. It is recommended that a dietician or nutritionist be involved to provide guidance and advice.

 

Down’s syndrome is not a defect, illness or disease. Down syndrome children should live as part of a normal family if possible. Their affectionate, happy personalities will flower within the love and security of the family unit.

 

 

References

 

Gilbert, P. (1996). The A-Z Reference Book of Syndromes and Inherited Disorders 2nd Ed. London: Chapman and Hall Publishing.

 

Hartley,X.Y. (1986) A summary of recent research into the development of children with Down's syndrome. Journal. Ment. Defic. Res., 30:1–14.

Lindsey, M.P. (1989). Dictionary of Mental Handicap. Routledge: London.

Read 2938 times Last modified on Friday, 07 March 2014 04:45

Leave a comment