IEC 522 Disability Presentation

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Presentation Description

This presentation on Tay Sachs Disease was developed for Lee Ann Jung's IEC 522 class on Working with Families at the University of Kentucky.

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Tay Sachs Disease : 

Tay Sachs Disease

Distinguishing Characteristics : 

Distinguishing Characteristics Deafness Decreased eye contact Loss of muscle strength or function Increased startle reaction Irritability Loss of motor skills Seizures Slow growth Delayed mental and social skills

Incidence & Prevalence: 

Incidence & Prevalence Anyone can be a carrier – The carrier rate of the general population is 1/250. Certain groups of people may have an increased risk over the general population. Children whose parents both carry the gene, have a 25% chance of developing Tay Sachs Disease. Males and females are effected equally.

Diagnosis: 

Diagnosis Classically, symptoms first appear when a child is 3 to 10 months old. In the juvenile form, symptoms may appear between ages 2 and 5. Symptoms may appear in adolescence or early adulthood in late onset. Symptoms get worse over time and progress to seizures and loss of all voluntary movements. There is no treatment for Tay Sachs Disease. Supportive treatment can make patients more comfortable, but children usually die by age 4 or 5.

Etiology: 

Etiology Tay Sachs is caused by the absence of a vital enzyme (Hex-A). Due to this absence, a fatty substance accumulates in the nerve cells of the brain, causing progressive damage.

Resources for Families & Teachers: 

Resources for Families & Teachers National Tay -Sachs and Allied Diseases Association, Inc. 2001 Beacon Street 204 Brookline, MA 02146-4227 USA Phone #: 617-277-4463 800 #: 800-906-8723 e-mail: info@ntsad.org Home page: http://www.NTSAD.org

Resources for Families & Teachers: 

Resources for Families & Teachers NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Phone #: 301-496-5751 800 #: 800-352-9424 e-mail: me20t@nih.gov Home page: http://www.ninds.nih.gov/

References: 

References National Organization for Rare Disorders. Retrieved January 28, 2012, from http://rarediseases.org National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved January 28, 2012, from http://www.ncbi.nlm.nih.gov/pubmedhealth/ National Tay -Sachs and Allied Diseases. Retrieved January 28, 2012, from http://www.NTSAD.org National Institute of Neurological Disorders and Stroke. Retrieved January 28, 2012, from http://www.ninds.nih.gov/