“Down Syndrome”

Introduction

Down syndrome, also referred to as Trisomy 21, is primarily caused by a chromosomal condition in which all, or part, of chromosome 21 is overly expressed. The syndrome was first described by John Langdon Down in 1866 and thus the name. It has come to be known as the most common chromosome abnormality in the modern age. Patients present irregularities in cognitive ability, in physical growth and have distinct facial features. As compared to children without the disorder, a child with Down syndrome has a considerably less IQ; 50 on average (Carr, 1995). Intellectual disability is fairly common in patients of Down syndrome yet exceptions exist none the less. Andrea Fay Friedman and Stephane Ginnsz are two notable Down syndrome patients who have gone on to led professional acting careers. Tommy Jesso is one such individual who not only acquired great fame for starring in BAFTA nominated drama, but also displayed great expertise in tackling the role of Hamlet in theatre.

The purpose of this paper is to take a closer look at the functioning of the syndrome, the symptoms and the physical and clinical features. Since at the moment, there is no method of prevention or treating and ridding the patient of the syndrome, before concluding, the paper will take a look at methods to improve in the raising of a child with Down syndrome (Cohen et al, 2003).

Function

While there is no specific function of the disorder, patients often grow up to lead full lives. With the methods of treatment discussed later, patients and parents can go about improving the quality of life for individuals with Down syndrome. From a medical perspective, Down syndrome occurs based on excessive copies of genes on chromosome 21. The most apparent affect is distinct facial features in the patient. With time, a better understanding of genes and chromosome might allow to isolate the chromosome and develop a method for ridding the excess copies, giving the child a chance at a better life. Through the research done so far, scientists have understood that the chromosomal material can come in several distinct ways. Typically, a human karyotype is 46, XX or 46, XY; females and males respectively (Cohen et al, 2003). The genetic makeup of an individual with the syndrome does not introduce any form of a mutation but rather over expression of certain characteristics (Brill, 2006).

Symptoms

The signs and symptoms of Down syndrome have become fairly common; at least the facial features. The syndrome is characterized by the neotenization of the body and the brain to a fetal state. Decelerate maturation; atavism and incomplete morphogenesis are common characteristics. As far as physical features are concerned, most patients have similar physical characteristics that include microgenia, slightly oblique eye fissures along with epicanthic skin folds, hypotonia of the muscles, flat nasal bridge, broad and flat skull, protruding tongue, short neck and white spots on the iris. Additionally, patients display excessive spacing between the big and second toe and short fingers. As stated earlier, patients are capable ...