Document Detail


Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication.
MedLine Citation:
PMID:  3324795     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recent progress from pooled clinical experience is reviewed. The approximate number of documented cases of Rett syndrome (RS) as of October 1986 was 1,100. Three sister pairs, 3 monozygotic twin pairs (both twin girls affected), 3 dizygotic twin pairs (one twin girl affected) are known. Genetics are discussed based on these and other known occurrences. Early seizure-onset variants have been reported in a dozen cases representing various countries. Approximately 20 incomplete RS related cases, also termed "formes frustes," are documented as of October 1986. An actual Swedish series of 66 classical RS, 4 "formes frustes," 2 early seizure-onset variants and 9 other clinically near related atypical cases is summarized. A suggested late stage IV spinal cord impairment is discussed, as well as the whole adult multifacetted complex neurological pattern. Gastrointestinal pathology is discussed with reference to possible generalized neuropeptide disturbances.
Authors:
B Hagberg; I Witt-Engerström
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Brain & development     Volume:  9     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  1987  
Date Detail:
Created Date:  1988-03-21     Completed Date:  1988-03-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  451-7     Citation Subset:  IM    
Affiliation:
Department of Pediatrics II, University of Gothenburg, Sweden.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Brain Diseases / complications,  epidemiology,  genetics*
Child
Child, Preschool
Diseases in Twins
Female
Humans
Infant
Intestinal Diseases / complications,  physiopathology
Male
Mental Retardation / complications,  epidemiology,  genetics*
Sex Factors
Spinal Cord Diseases / complications,  physiopathology
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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