DOWN SYNDROME

Down Syndrome, or trisomy 21, is a common genetic variation characterized by the presence of one or part of an extra chromosome 21 in an individual's genetic identify or karyotipe.

This chromosomal rearrangement usually causes variation in mental abilities and delays in behavioural and physical development and is one of the leading clinical causes of cognitive delay. the women's age appears to be the most important risk factor responsible for this genetic disorder.

Symptoms And Development
Though being a chromosomal disorder, a set of physical characteristics are usually identified on babies with down syndrome at birth: overly quiet, less responsive, with weak and floppy muscles.

Main Symptoms of Down Syndrome
While develoving, some physical features may be observed on children with trisomy 21:

• flat appearing face and small head
• slanting eyelids
• depressed nasal bridge
• small ears
• small skin folds at the inner corner or the eyes
• small mouth
• decreased muscle tone
• loose ligaments
• short wide hands with small fingers and a line across the palm (50%), often with a gap between the first and second toes
• small feed

The physical features observe in children with Down Syndrome (and there are many more than described above) generally do not couse ani disability. nevertheless, children with down syndrome ususally present severe mental retardation and their motor development is slow instead of walking by 12 to 14 months as other children do, they might learn to walk between 15 to 36 months and language development is also maredly delayed

Health Conserns usually oberserved in individuals with Down Syndrome
Children with Down Syndrome need the same medical care as any other children. The paediatrician or family physician should provide general health mainenance, immunizations; attend to medical emergencies, and offer support and couselling to the family. but as other types of defects often accompany Down Syndrome, there are nevertherless situations when special attention and appropriate tratment is necessary.

1. A significant propotion of children with Down Syndrome have Hearing Deficits. therefore, audiologic assessments at an early age and follow-up hearing tests are indicated. if there is a significant hearing loss, the child should be seen by an otorhinolaryngologist (nose, ear and throat specialist).
2. Children with Down Syndrome may have congenital heart disease. Many of these children will have to undergo cardiac surgery and often will need long term care by a paediatric cardiologist.
3. Intestinal abnomalities also occur at a higher frequency in children with Down Syndrome. For example, a blockage of the esophagus (food pipe), duodenum (small bowel), and at the anus are not uncommon. these may need to be surgically corectd at once in order to have a normal functioning intestinal tract.
4. Children with Down Syndrome often have more eye problems then other children who do not have this chromosome disorder. For example, some infants with trisomy 21 have cataracts. They need to be removed surgically. Other eye proglems such as trabismus (cross eye), near-sightedness, far-sightedness and other eye conditions are also frequently observed
5. Another concern related to nutritional aspects. Some children with Down syndrome, in particular those with severe heart disease often fail to thrive in infancy. on the other hand, obesity is often noted during adolescence and early adulthood. these conditions can be prevented by providing appropriate nutritional counseling and anticipatory dietary guidance.
6. Thyroid dysfunctions are more common in children with Down syndrome. Hypothyroidism for example is important to identify early since it may comprpmise normal central nervous system functioning.
7. Skeletal problems have also been noted at a higher frequency in children with Down syndrome, including kneecap subluxation (incomplete or partial dislocation), hip dislocation, and atlantoaxial instability. the latter condition occurs when the first two bones are not well aligned because of the presence of loose ligaments.
8. Other important medical aspects in Down syndrome, including immunlogic concerns, leukemia, Alzheimer disease, seizure disorders, sleep apnea and skin disorders, may require the attention of specialists in their respective fields.

Stimulation services and vocational opportunities
Researched have shown that early intervention, environmental enrichment, and assistance to teh families will result in progress that is usually not archieved by those infants who have not by such educational and stimulating experiences.

Children with Down syndrome, like all children, can benefit from sensory stimulation, specific exercises involving gross and fine motor activities, and instruction in cognitive development. Also, preschool plys and important role in the young child's life since exploring the environment beyond the home enables the child to participate in a broader world.

Experiences provided in school assist the child in obtaining a feeling of self-respect and enjoyment and give an opporunity to engage him in sharing relationships with others.
Health and educational services have an important role in stimulating development and preventing secondary effects. Doctors, physioterapists, occupational therapist, speech therapists, psychologists, nurses and educators should work alongside with the family and the child in order tob able to maximize the capacities of the child.


Sources : Dr. Andrew Carroll, University of Alabama at Birmingham, Health Messenger.