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Nursing (250) Case 60 - Case Study Document About Down Syndrome

John Marsh
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Davenport University

Nursing (250)

Case 60 – Case Study document about down syndrome.

Down syndrome (DS), also commonly known as trisomy 21, is a chromosome disorder characterized
by low intelligence quotient (IQ), dysmorphic facial features, delays in physical
development, and a broad array of other multisystem anomalies. All abnormalities are
apparently caused by overexpression of specific genes from chromosome 21. The condition
may vary in severity from mild to severe.
Down syndrome was named after the 19th century English physician John Langdon
Down, who described the condition in 1866. However, Down was not the first person to
report the aberration. It was clearly recognized 20 years earlier by the French physician
E. Seguin, who described the syndrome in a book that he published in Paris. Such historical
inaccuracies in naming diseases are common. Down attributed the condition to a “reversion
to the mongoloid race.” He erroneously held that evolution had been reversed from a superior
Caucasian to an inferior Asian race. The disorder was also once known as mongolism,
now considered demeaning, and the term should be avoided.
Down syndrome is the most common genetic cause of severe learning disabilities in children.
In the United States, the estimated frequency of DS is approximately 1 in every 600–800 live
births. Approximately 6,000 children are born with DS annually. No known racial predilection
exists. The male-to-female ratio is 1.15:1.0. The risk for DS is not related to nationality,
religion, or socioeconomic status. Currently, there are approximately 350,000 people in the
United States with Down syndrome.
Trisomy 21 is the most common chromosomal abnormality that affects autosomes (i.e.,
chromosomes that are not sex chromosomes; chromosomes 1–22). The chromosomal aberration
also represents the single most common cause of birth defects and is a major cause
of mental retardation today. Down syndrome accounts for approximately one third of all
moderate and severe mental handicaps in school-aged children. A significant number of
adults with DS cannot lead totally independent lives due to a low IQ. IQ typically spans a
range of 20–85 with a mean value of approximately 50.



Nursing (250) Case 60 - Case Study Document About Down Syndrome

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