Downsyndrome.com

Around one in every 1,000 babies born in the UK has Down’s syndrome.

There are 60,000people in Britain with the condition.

Although there is a greater risk of older mothers having a baby with Down’s syndrome, more babies with Down’s are born to younger women, because the birth rate is higher in this group.

Down’s syndrome is caused by the presence of an extra chromosome in a baby’s cells. It occurs by chance at conception and is irreversible.

Down’s syndrome is not a disease. People with Down’s syndrome are not ill and do not “suffer” from the condition.

People with the syndrome will have a degree of learning difficulty. However, most people with Down’s syndrome will walk and talk, and many will read and write, go to ordinary schools and lead fulfilling, semi-independent lives.

People with Down’s syndrome can expect to live on average to between 40 and 60 years of age.

Copyright 2006 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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ABSTRACT. Models of human gait are based on adult locomotion. C. E. Bauby and A. D. Kuo (2000) proposed that adults rely on passive mechanisms at the spinal level to control motion in the anteroposterior direction and rely on direct monitoring of postural control in the lateral direction. The authors’ purpose in this study was to determine if that model applies to control at the onset of walking in typically developing toddlers (n = 9) and in toddlers with Down syndrome (n = 6).

Their longitudinal data suggested that toddlers control gait in a distinctly different manner than …

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The FDA has approved Elaprase (idursulfase), the first product for the treatment of Hunter syndrome (Mucopolysaccharidosis II, or MPS II), a rare inherited disease that can lead to premature death. Elaprase is a new molecular entity, which is an active ingredient never before marketed in the United States.

Hunter syndrome, which usually becomes apparent in children ages I to 3 years, is a disease in which the person’s body is defective in producing a chemical called iduronate-2-sulfatase. This chemical is needed to adequately break down complex sugars produced in the body. Symptoms include growth delay, joint stiffness, and coarsening of facial features. In severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, neurological deficits, and death.

Approved in July 2006, Elaprase was designated as an orphan product by the FDA. Orphan products are generally developed to treat rare diseases or conditions that affect fewer than 200,000 people in the United States. The Orphan Drug Act provides a seven-year period of exclusive marketing to the first sponsor who obtains marketing approval for a designated orphan product. Hunter syndrome is diagnosed in about 1 out of every 65,000 to 132,000 births.

Elaprase was approved after a randomized, double-blind, placebo-controlled study of 96 patients with Hunter syndrome showed that the treated participants had an improved capacity to walk.

Because of the potential for severe hypersensitivity reactions, appropriate medical support should be readily available when Elaprase is administered. Patients and their physicians are encouraged to participate in a voluntary Hunter Outcome Survey that has been established to monitor and evaluate the safety and effects of long-term treatment with Elaprase.

Elaprase is manufactured by Shire Human Genetic Therapies Inc., Cambridge, Mass.

COPYRIGHT 2006 U.S. Government Printing Office
COPYRIGHT 2008 Gale, Cengage Learning

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