Exploring Down Syndrome

Down Syndrome involves a genetic mishap where the affected person has 47 chromosomes instead of the usual 46. Usually there is an extra chromosome 21. This type of Down syndrome with the extra chromosone 21 is called Trisomy 21. The extra chromosome can have an affect on the developing body and brain.

Down Syndrome has a variety of symptoms and a person with the syndrome can have a wide variety of symtoms in varying degrees from mild to severe.

There are a few physical characteristics that are typical of the Down Syndrome person. The typical symptoms are:

A smaller head with a possibly abnormal shape. Sometimes there is a flat area on the back of the head.

The inner corners of each eye may be rounded instead of pointed.

There is usually a decrease in muscle tone noted at birth

There can be excessive skin at the nape of the neck

A separation between joints of the skull

There is a single crease on the palm of one or both hands instead of the usual two creases

Small ears and mouth

The eyes slant upward

The hands are short and the fingers are also short

Brushfield spots (white spots) are seen in the colored parts of the eyes.

A child born with Down Syndrome will not reach full adult height potential.

Children with Down Syndrome often have physical, mental and social development delays. They usually have mild to moderate mental retardation.

Physical traits can include:

An atrial septal defect or a ventricular septal defect

Vision problems especially cataracts

Gastrointestinal blockages, and other abdomenal issues such as esophageal atresia and duodenal atresia

Auditory problems are common

There may be sleep apnea, hip dislocation and an underative thyroid which is also known as hypothyroidism

At birth the attending physician will examine the baby, making note of any physical signs that Down Syndrome may be present. A stethoscope will be used to listen to the baby's heart to determine if there is a heart murmur. A blood test will be done to determine the chromosome makeup as a means to confirm the diagnosis of Down Syndrome. Some other tests may also be conducted such as an echocardiogram, x-rays of the chest and the G.I. tract and also a ECG.

If the baby shows signs of frequent vomiting it may be a sign of a gastrointestinal blockage.

Immediate surgery may be required if there is a gastrointestinal blockage or cardiac involvement.

Other medical conditions that need to be watched for are vision problems, auditory problems, thyroid issues.

Babies with Down Syndrome may encounter complications such as airway blockage while sleeping, compression spinal cord injury, ear infections, auditory problems, cardiac problems, and a weakness at the top of the neck and also of the back bones.

Recommended Reading

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