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Down Syndrome

In 1866, J. Langdon Down was the first to formally describe what is now called Down Syndrome (DS). He described people who had flat and broad faces; roundish and laterally extended cheeks; large, thick lips; and long, thick tongues. These people also had mental deficits and were called idiots (Down, 1866). Brousseau (1928) gives a more thorough description of the physical as well as the mental characteristics of people with DS. Her list of physical features includes: small, rounded head; short, flat nose; small, slanted eyes; short stature; muscular weakness; small, round and frequently open mouth; and large abdomens. She noted that children with DS often displayed delays in gross motor activities, such as walking, and production and recognition of language as well as other cognitive processes.

Beginning early, parents, and especially mothers, were blamed for their child's condition. Brousseau has a long list of causes for Mongolism; they are parental alcoholism, syphilis, tuberculosis, neuropathic heredity, consanguinity, age of parents, birth order, physical and mental state of mother during pregnancy, and injury to the fetus (1928). In 1907, Seguin listed four circumstances, which favor the conception of idiocy:


endemic, hereditary, parental, and accidental. He believed "the share of the mother in the circumstances favoring the production of idiocy is the larger" (p. 31) Finally in 1959, geneticist Jerome Lejeune identified the chromosomal abnormality associated with DS and alleviated some pressure off parents who blamed themselves for their children's disorder. This abnormality, called Trisomy 21, arises when a child is born with three 21st chromosomes instead of the normal two (Patterson, Graw, Gusella, & Watkins, 1987). More recently it has been found that 95% of the extra chromosomes come from the mother and older women are more likely to carry a fetus with DS to term (Ezzell, 1991). Because DS accounts for 1 in every 600 births, many pregnant women today have a blood test and ultrasound done in the first trimester of pregnancy that can identify about 90% of the cases of DS (Cody and Kamphaus, 1999). They may also have an amniocentesis, which can definitely determine if the fetus will be born with DS (Henderson, 2000).

Miller et al (1995) conducted two experiments to test the reliability and validity of the CDI to assess language production. In both experiments parents of children with DS were asked to fill out the CDI prior to coming to the lab. Parents were able to write in words their children said but were not on the list in this experiment. This is different from the standard way the CDI is administered. Subjects were then audio and videotaped during a 30-minute free play session (15 minutes with experimenter, 15 minutes with parent) to measure observed vocabulary. Ten items from the Bayley Scales of Infant Development (BSID) were also used to measure expressive language. Miller et al found that there were significant correlations between the CDI, the observed vocabulary and the BSID. They concluded that the CDI is a valid measure to use in assessing the language development of children DS.

Russell et al (1998) tested 123 children with DS who were 6 years or younger. Each child was assessed by an intervener, "a service provider who saw the child on an ongoing basis and who was knowledgeable about the child's current motor abilities, but who did not necessarily have specialized training in motor development" (p. 695). The GMFM requires that only behaviors demonstrated by the child at the time of the assessment be scored. In this experiment, the interveners were told to ask the primary caregiver about behaviors the child regularly demonstrates but failed to during the assessment. This additional information was marked 'R' and used to calculate the 'reported' score of the child, a combination of the observed and reported behaviors. The children were also assessed using the established Bayley Scales of Infant Development - second edition. Children were assessed using both measures again after 6 months. At the second meeting, Russell et al administered an additional questionnaire to parents to get more information about the change in the child's gross motor abilities. This questionnaire used a 15-point Likert scale, ranging from -7 (a great deal less) to +7 (a great deal more). Russell et al found good correlations between the GMFM, BSID-II, and parent reports both on current abilities and prediction of change of gross motor function. Russell et al highly suggests using a parent report measure along with the GMFM to get reliable and valid results.

Mark Leddy (1999) believes there is a biological basis of speech problems in people with DS. This biological problem with speech stems from abnormalities of the mouth and throat. Children with DS often have a much smaller mouth and throat, a narrower palate, and a larger, more muscular tongue. These physical characteristics can control how well a child can pronounce syllables and words, influencing whether or not others will understand these children. A child may then simplify their language and only use a few words, which they can clearly pronounce and have a lot of meaning atta

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Approximate Word count = 2888
Approximate Pages = 12 (250 words per page double spaced)


  

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