Down Syndrome Research Paper
Essay by people • March 8, 2012 • Research Paper • 2,528 Words (11 Pages) • 1,751 Views
Keema Robertson
Mrs.Matthews
Down's Syndrome
Down's syndrome is a genetic condition involving an extra chromosome,
this change occurs around the time of conception. A person with Down's syndrome
has forty-seven chromosomes instead of the usual forty-six. A relatively common
genetic disorder, Down's strikes 1 out of 600 babies. In 95 percent of all
cases, the disorder originates with the egg, not the sperm, and the only known
risk factor is advanced maternal age-at age 35, a woman has 1 chance in 117 of
having a baby with Down's; at 40, her odds are 1 in 34. (Graves, 1990) People
with Down's syndrome all have a certain degree of learning disability . This
means that they develop and learn more slowly than other children. However, most
children with Down's syndrome today will walk and talk, many will read and
write, go to ordinary school, and look forward to a semi-independent adult life.
(Platt and Carlson, 1992) Facts on Down Syndrome *Down syndrome is not a lethal
anomaly. One to two percent of persons born with this disorder have
uncorrectable heart defects at birth. The average life expectancy for all others
is now beyond age 55 years. *Today less than 5% of persons with Down syndrome
have severe-to-profound mental retardation. The majority are on the border of
mild-to-moderate mental retardation, and some are exhibiting normal IQ scores
today. *The average reading level for persons with Down syndrome is 3rd grade,
with many reading at 6th-12th grade levels today. *The vast majority of adults
with Down syndrome today can be expected to live semi- or totally independently
and many enter the work force with today's supported employment programs and
some are competitively employed. Some medical conditions that demand special
attention for people with Down syndrome include: *Congenital Heart Disease:
usually in the form of endocardial cushion defects, affects 40% of babies and
should be screened for by echocardiography soon after birth as it may well be
difficult to detect. * Gastrointestinal disorders: the most common congenital
abnormality of the gastrointestinal tract associated with Down syndrome is
duodenal atresia, although pyloric stenosis, Hirschsprung's disease and
tracheo-oesophageal fistulae have all been reported. * Vision: Three percent of
newborns with Down syndrome will have dense congenital cataracts which should be
removed early. Glaucoma is also common. * Congenital Hypothyroidism: This
condition is slightly more prevalent in babies with Down syndrome. It should be
detected by the routine heelprick screen performed on all babies. *Congenital
dislocation of the hips: Joint laxity and hypotonia can combine to increase the
incidence of hip dislocation, although true congenital dislocation is quite
rare. * Sensory deficits: Significant hearing impairments occur in the majority
of children with Down syndrome. Annual audiometry and specialist consultation is
recommended. * Atlantoaxial instability: Up to 15% of children with Down
syndrome will have evidence of instability of the atlantoaxial joint but in only
a handful of cases will this instability result in an impingement on the spinal
cord with resultant neurological signs. * Physical growth: Physical development
is invariably delayed in children with Down syndrome. A tendency towards obesity
requires special attention to healthy diet and exercise habits in this group. *
Dental care: The teeth of children with Down syndrome tend to be small,
irregularly spaced and misshapen. Early and frequent dental care is required to
ensure adequate dentition for adult life. * Psychiatric disorders: Psychiatric
illnesses occur in people with Down syndrome with much the same frequency as in
the rest of the population. *Dementia: Much recent attention has been focused on
the association between Down syndrome and Alzheimer's disease. There appears to
be a gene-dose effect where having an extra chromosome 21 gives an individual a
higher chance of developing Alzheimer's disease. (Newton, 1992) A significant
amount of research has been conducted on Down syndrome, in particular many
methods to detect Down syndrome in fetuses have been developed. This is a
controversial issue for researchers and for families who have Down syndrome
children and adults. The following is a discussion of some of the detection
methods for Down syndrome, and the facilities in which they were developed.
Jones Institute Scientists at Norfolk's Jones Institute for Reproductive
Medicine say they have overcome most technical hurdles to screening embryos for
Down syndrome and many other chromosomal defects before the embryos are
implanted
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