Down syndrome

Down syndrome

Introduction

Down syndrome also known as Trisomy 21 is the condition in which extra genetic material causes delays in the way a child develops mentally and physically. This condition affects 1 in every 800 babies. The physical and mental problems associated with Down syndrome can vary among children. While some children with Down syndrome need medical attention, others lead very healthy lives. Down syndrome is not preventable but it can be detected before birth. Health problems in Down syndrome cases can be treated and there are community resources to help children and families with this condition.

A person with Down syndrome presents at birth of the minor anomalies of the skull, face, ears and hands, sometimes associated with a modest reduction in muscle tone. These anomalies are associated with a modest deficit of growth, delayed motor development and language and a moderate or severe mental retardation.

It is now known that most of the phenotypic characteristics, except for mental retardation and hypotonia, are variable and may not even be present. Between 30% and 60% of people with Down syndrome, is suffering from congenital heart defects, especially defects of the endocardial bearings. A characteristic feature is the neurological degeneration of the nervous system, which configures a clinical picture similar to Alzheimer's disease. This disease affects a part of people with Down syndrome after age 35.

The analysis of disability determined by the Down's Syndrome has been realized through the definition of some fundamental steps that identify the path of life: the prevalence at birth and hospital morbidity. These are the basic steps that allow you to grasp the differences between people with the disease or not. The optical analysis is mainly demo-health, rather than social in this latter case, there would need to refer to other milestones: the entrance to the school, the transition from school to work, the transition from world of work to retirement. Adopting this approach of analysis would be extremely interesting for other types of disabilities caused by congenital malformations, but is almost never possible because of the lack of data.

Body: Discussion and Analysis

A syndrome means the existence of a set of symptoms that define or characterize a particular pathological condition. This condition is named as Down syndrome because it was initially identified in the last century by the English physician John Langdon Down. However, it was discovered in 1957 by Dr. Jerome Lejeune that the main reason for the emergence of this syndrome is due to the nuclei of cells had 47 chromosomes instead of the usual 46. (Geliebter, Allan, 2008)

It is important to know that the man's sperm and woman's egg are embryonic or germ cells which have only half the chromosomes of other cells, i.e. 23. Therefore, when conception occurs and the egg and sperm fuse to cause the first cell of the new human organism, it has 46 chromosomes characteristic of the human species. From the first cell and successive cell divisions, it will be forming the millions of cells that form the various organs ...