Down syndrome

The battle against disease and ailments is usually fought on two fronts, one of them being their prevention and the other concerned with the curing, or sometimes combining the two whenever feasible.

However, genetic disorders have proven to be more difficult to alleviate compared to other diseases because of the very nature of the disease, the disease represents deformities in the drivers of primary building mechanisms of the body- the genes, and these deformities are transferrable to off springs. Rigorous research has been carried out from the time of first gene description at the start of the 20th century, and this has opened up the possibility of treatments beyond the traditional medical practices as we have known them.

One of such conditions that falls under the category of gene disorders is Down syndrome.

Down syndrome is associated with delays in physical growth, delays in intellectual development and distinct facial features and is caused by the presence of all or part of a third copy of chromosome 21 instead of the usual two copies. The disease is named after the British doctor John Langdon Down who fully described the condition in 1866 and the genetic cause was discovered in 1959. In Down syndrome, the average mental ability of a patient who is a young adult is similar to that of an 8 or 9 year old child but this can vary widely.

Epidemiology

The condition is the most common chromosome abnormality known in humans and found to occur in 1 per 1000 babies born each year. The parents of the patients are usually genetically normal and the likelihood of the disease increases from less than 0.1% in 20 year old mothers to 3% in those of age 45. Children born with the condition face a higher risk of other health problems some of which include mental disorders, epilepsy and congenital heart problems.

The presence of the extra chromosome has been known to exist by chance and is not attributed to any environmental factor, or behavior that may affect probability of acquiring the condition.

Screening

The condition can be identified during pregnancy through screening followed by diagnostic testing or by direct observation and genetic testing after birth.

Management

There is no cure for Down syndrome but there are interventions that have been proposed to improve the general quality of the life of those that are affected by the condition, mostly through proper care and continuous education. Care procedures during childhood may include screening to identify common problems, medical treatment where it is indicated, good family environment and work-related training for young adults.

 

References

  1. “Molecular genetic analysis of Down syndrome” Human genetics Patterson, D July 2009
  2. “Weijerman, ME; deWinter, JP Dec 2010. “Clinical practice. The care of children with downs syndrome” European Journal of Pediatrics.
  3. Hickey, F; Hickey, E; Summar 2012 “Medical update for children with down syndrome for the pediatrician and family practitioner” Advances in paediatrics.


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