DOWN SYNDROME

What is Down syndrome, what are the features and the dental implementation?

What is Down syndrome, what are the features and the dental implementation?

Introduction

Down syndrome, also known as Trisomy 21, is a commonly seen genetic disorder that affects one in every 800 live born babies. The affected individual presents with a variety of diseases and disabilities, foremost being the cognitive impairment. Furthermore, learning disabilities, delayed developmental milestones, typical facial features, and low muscle tone during infancy, cardiac anomalies, leukemia, gastro-intestinal problems, and Alzheimer's diseases, are commonly associated with Down syndrome. These symptoms can range from mild to severe.

During past few decades, the life expectancy of individuals suffering from Down syndrome has drastically improved mainly due to advanced medical care, as well as, improved social inclusion. On average an affected individual with good health can now live up to the age of 55 years and above.

Discussion

Down syndrome is a genetic disorder caused by an extra duplication of chromosome 21, which is responsible for the typical features associated with it. In a normal human cell, there are 23 pairs of chromosomes carrying genes necessary for normal development and maintenance of the human body. An individual inherit 23 chromosomes from each parent at the time of conception. However, in some instances, an extra chromosome is inherited, such as in Down syndrome two copies of chromosome 21 are from the mother. Since the inheritance of three chromosomes 21 is in the disease process, it is to as Trisomy 21.

In approximately 95% cases, entire extra chromosome 21 is inherited. Whereas, in about 3-4% of cases, only some part of an extra chromosome 21 genes is to another chromosome. This phenomenon is translocation. (Heyn, 2010)

History of Down syndrome

All over history, there are various illustrations of art and literature showcasing people with typical features of Down syndrome. In ancient art, angels were continually painted carrying these facial features. Moreover, other features like stubby fingers, low set ears, space between toes, and other features are also clearly evident. A painting named The Adoration of the Christ Child, placed in New York's Metropolitan Museum of Art, depicts an angel with features of Down syndrome next to Mary. This painting dates as far as 1515. (Down syndrome History, 2006)

Father of Down syndrome

An English physician, John Langdon Down was the first one to publish the findings of the typical physical characteristics associated with Down syndrome, in 1866. He often referred to the individuals suffering from the condition as mongoloid since the facial features of these individuals were comparable to people of Mongolia. (Ward, 2002)

Genetic Breakthrough behind Down syndrome

Dr. Jerome Lejeune, a French physician established the cause of Down syndrome to be linked with abnormality of chromosomes. This breakthrough in the history of the condition was achieved in 1959 when Dr. Lejeune found the number of chromosomes of the affected individuals to be 47, instead of 46 chromosomes. Within a few years, chromosome 21 was discovered to contain the extra partial or complete chromosome; hence, the ...