Document Detail

Rett's syndrome: a case study.
MedLine Citation:
PMID:  2146334     Owner:  NLM     Status:  MEDLINE    
Rett's syndrome, first described in Austria in 1966 by Dr. Andreas Rett, became known as such in 1983 when Dr. Bengt Hagberg in Sweden realized that he and his colleagues from France and Portugal were not the first to recognize this disorder. In Sweden the syndrome was found to occur in at least 1 per 15,000 female births by 1985, about twice that of phenylketonuria (PKU) in the same area. The syndrome is limited to girls and involves atrophy of the brain with loss of previously learned cognitive and motor skills after eighteen months of age. Although there are variations in the numerous clinical features, most girls develop seizures, muscle wasting, contractures, severe weight loss and bizarre behaviors. All races are affected and four clinical stages have been established. Nurses are more likely to become involved during the final stage of this disorder when families can no longer cope without professional intervention. A case study of a 9 year-old girl is presented.
J Morris
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses     Volume:  22     ISSN:  0888-0395     ISO Abbreviation:  J Neurosci Nurs     Publication Date:  1990 Oct 
Date Detail:
Created Date:  1990-12-19     Completed Date:  1990-12-19     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8603596     Medline TA:  J Neurosci Nurs     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  285-93     Citation Subset:  IM; N    
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MeSH Terms
Rett Syndrome* / diagnosis,  genetics,  nursing,  therapy

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