Downs syndrome or Trisomy 21 is a genetic condition affecting 1 in every 800 live births. The sole most common cause of human birth defects, it occurs when a child has 47 chromosomes instead of the general 46 that is required from maintaining a healthy mind and body (23 from each parent). This extra chromosome is generally found to an additional copy of chromosome 21, which prompts the term Trisomy 21. The extra genetic material causes developmental delays (physical and mental) and cognitive impairment in individuals who suffer from it. It leads to mild-moderate learning disabilities.
The severity of Downs syndrome (mild-severe), its symptoms and the health conditions associated with it vary across persons. Even so, some parallels in term of physical characteristics can be drawn.
- A flat face and nose, short neck, small mouth, a protruding tongue, small ears, upward slanting eyes with small skin folds at the inner corner, excess skin at nape of the neck, separated joints between the bones of the skull
- Presence of white spots on the iris (Brushfield spots)
- Hands are short and broad with short fingers, and a single crease in the palm
- Low muscle tone and loose ligaments are also observed
- Development and growth is usually delayed and often average height and developmental milestones (crawling, walking, talking) are not reached at the same time as their peers
Psychological and social developmental impediments that occur in children suffering from Downs syndrome include:
- Learning disabilities (slow learning)
- Short attention span
- Impulsive behaviour
- Poor judgment
Individuals afflicted with Downs syndrome are also prone to have certain medical problems. These also vary across children
- Congenital heart defects (atrial septal defect, ventricular septal defect, endocardial cushion defects)
- Early onset of Alzheimer’s
- Gastro-intestinal problems (esophageal atresia, duodenal atresia, chronic constipation problems)
- Eye problems (poor eye sight, tendency to develop cataract)
- Hearing problems and tendency to contract ear infections
- High risk of dislocation
- Sleep apnea (due to airway being narrow)
- Dental problems
Downs syndrome can be diagnosed prior to the birth of the child on the basis of heart murmur, appearance of the fetus, and a blood test, which can confirm the presence, or absence of an additional chromosome.
The probability of having a child who suffers from this disorder is directly related to the age of the mother; the odds stand at 1 in 100 live births for women over 40 years of age.
Although it can be detected, Trisomy 21 cannot be cured. There is no specific treatment that is available. However, special education, family counseling have been found to be effective in helping to cope with the disorder. Moreover, since people suffering from this condition are susceptible to the outlined medical problems, they will require treatment for those conditions that they suffer from. Today people with Downs syndrome are living longer and healthier lives, despite their limitations.
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