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Lesch-Nyhan Syndrome
November 2012
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a condition characterized by the overproduction and accumulation of uric acid, a waste product of normal chemical processes that is found in blood and urine. The overproduction of uric acid can cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints), kidney stones, and bladder stones. Problems with the nervous system and behavioral disturbances are also characteristic of this disorder.
Characteristics
Irritability Nervous System Impairment o Lack of muscle tone o Spasms of limbs and facial muscles Kidney Stones Blood in the urine Pain and swelling of joints Difficulty swallowing Impaired kidney function Self-injury The severity of effects on intelligence vary
Prevalence
The occurrence of Lesch-Nyhan is very rare, about 1 in 380,000 live births. It is not more prevalent in any ethnicity but is much more common in males than females.
Lesch-Nyhan Syndrome is named after Doctors Michael Lesch and William Nyhan who diagnosed the first case in 1964.
Desiree Torres
Lesch-Nyhan Syndrome
November 2012
Teaching/Intervention Tips
Traditional classroom settings are not suggested. Use real-life settings and activities as learning opportunities. Use comfortable protective devices to prevent self injury. Use hand over hand method to guide fine motor skill activities. Selectively ignore negative behavior. Use self-esteem building activities.
Desiree Torres
Lesch-Nyhan Syndrome
November 2012
Professional Organizations
National Organization for Rare Disorders http://www.rarediseases.org/ The National Organization for Rare Disorders (NORD) is a non-profit organization that supports the research of rare disorders such as Lesch-Nyhan Disease. The organization provides families and patients with information and mentors.
Parent Organizations
International Lesch-Nyhan Disease Association http://www.lesch-nyhan.org/ This organization was created to help families with children who have LeschNyhan Disease. It provides them with information in understanding how LeschNyhan disease works, treatment options and care providers. Purine Research Society http://www.purineresearchsociety.org/ The Purine Research Society is an organization created by parents of children who are hyperuricemic.
Lesch-Nyhan Syndrome Support Group http://www.mdjunction.com/lesch-nyhansyndrome The Lesch-Nyhan Syndrome Support Group was created so that parents of children with Lesch-Nyhan Syndrome could reach out to each other and share
Lesch-Nyhan Syndrome
Desiree Torres
Resources Lesch-nyhan syndrome. (2012, November 12). Retrieved from http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome http://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome This website gives information about the related genes and inheritance of Lesch-Nyhan Syndrome. Badash, M. (2012). Lesch-nyhan syndrome. Retrieved from http://www.med.nyu.edu/content?ChunkIID=22829 http://www.med.nyu.edu/content?ChunkIID=22829 This website provides a break down of the basics of Lesch-Nyhan Syndrome such as definition, prevalence and characteristics. Official website of the lesch nyhan disease international study group . (2006). Retrieved from http://www.lesch-nyhan.org/en/ http://www.lesch-nyhan.org/en/ This website provides international research information for people around the world. Ishmael, Holly; Frey, Rebecca. "Lesch-Nyhan Syndrome." Gale Encyclopedia of Medicine, 3rd ed.. 2006. Retrieved November 19, 2012 from Encyclopedia.com: http://www.encyclopedia.com/doc/1G2-3451600961.html http://www.encyclopedia.com/topic/Lesch-Nyhan_syndrome.aspx#1 This website gives detailed explanations of what Lesch-Nyhan disease is and explains key terms for better comprehension. Institute for research in developmental disabilities . (n.d.). Retrieved from http://www.matheny.org/institute_for_research.htm http://www.matheny.org/institute_for_research.htm
November 2012
Place Logo Or Company Name Here This website provides suggestions for appropriate educational settings for children with Lesch-Nyhan Syndrome and appropriate
responses and actions for teachers of children with Lesch-Nyhan Syndrome.
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