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Down Syndrome (唐氏綜合症)

Introduction
     Down Syndrome (唐氏綜合症) is a well-known chromosomal abnormality (染色體異常). About 95% of cases occurs when an extra chromosome is added in the 21st position, known as *Trisomy 21*

High Risk Population
     The risk of occurring is correlate to the maternal age (妊娠年齡) of the baby's mother.
At age of 30, the risk is 1:800 ; However, the risk rises to 1:50 at the age of 44.

Characteristics
Body features:
Children with Down Syndrome are often have small head, short neck, especially flatter at the back. Their limbs are relatively short. Moreover, their fingers were short and poorly coordinated.

Muscles Tones:
They always have poor muscle tones. Sometimes, they are called as *floppy babies*. They starts walking late than normal ones.

Facial features:
Their eyes are upward slanted with marked epoicanthic folds. Most of them have white flecks on the iris-Brushfield*s spots. Usually, abnormality liked, cataracts(白內瘴), squint (斜視) and nystagmus (眼球震顫) are common to Down Syndrome children.

Hearing:
They have small ears and easily get hearing impairment.

Personality:
Children with Down Syndrome are affectionate, responsive and happy children. They are easy to manage.

Mental Retardation:
Most of those children suffers from mental retardation (弱智) for various degrees. However, although they are mentally deficient in many aspects, most of them function much better in certain area, for example, music.

Effects on Daily life
     Most of the Down Syndrome children are suffering from mental retardation which means they will not learn language and adaptive skills well as normal. Their hearing impairment, eye defects and physical abnormalities also forbid them to explore outside environment. Thus, special and additional care have to be given to those child.

Reference :

Gilbert, P. (1996) The A-Z Reference Book of Syndromes & Inherited Disorders. San Diego: Singular
Selikowitz, M. (1997) Down Syndrome: the facts. New York: Oxford University Press

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