Down's Syndrome

Topics: Pregnancy, Prenatal diagnosis, Down syndrome Pages: 10 (2779 words) Published: October 8, 1999
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...

References: Cooley, W. and Graham, J. (1991). Down syndrome - an update and review for the
primary paediatrician
Graves, P. (1990). The intellectually disabled child in Robinson MJ practical
paediatrics 2nd ed
Kingsley, J. and Levitz, M. (1994). Count us in: Growing up with down syndrome.
Newton, R.(1992). Down 's syndrome. London: Optima.
Platt, L. and Carlson, D.(1992). Prenatal diagnosis - when and how? NEJM 327
Pueschel, S.(1990). Clinical aspects of down syndrome from infancy to
Pueschel, S. and Pueschel, J. (Eds) (1992). Biomedical concerns in persons with
down syndrome
Pueschel, S. (1992). A longitudinal study of atlanto-dens relationships in
asymptomatic individuals with Down syndrome
Selikowitz, M.(1990). Down Syndrome - the facts. Oxford:Oxford University Press.
Stray-Gundersen, K. (Ed.) (1995). Babies with down syndrome: A new parents '
guide (2nd edition)
Tingey, C. (Ed.) (1988). Down syndrome: A resource handbook. Boston, MA:
College- Hill Press.
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