Document Detail


Natural history of Rett syndrome.
MedLine Citation:
PMID:  16225833     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rett syndrome is a unique neurodevelopmental disorder, with onset of hypotonia, autistic tendency, and abnormalities of fine finger movements and gross movements of the arms in early infancy. Clinical features include specific age-dependent symptoms. Studies of early and late signs correlated locomotive dysfunction to language disability and stereotypy to regression of higher cortical functions. Studies of sleep parameters revealed early hypofunction of brainstem aminergic neurons and late occurrence of hypofunction of dopaminergic neurons, followed by receptor supersensitivity. The syndrome's pathophysiology suggests that early hypofunction of aminergic neurons interferes with the development of higher neuronal systems. Particular symptoms surface at different ages throughout the natural course of Rett syndrome, with regressional and static periods.
Authors:
Yoshiko Nomura; Masaya Segawa
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  20     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-10-17     Completed Date:  2005-12-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  764-8     Citation Subset:  IM    
Affiliation:
Segawa Clinic for Children, Tokyo, Japan. nomura-y@segawa-clinic.jp
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MeSH Terms
Descriptor/Qualifier:
Age Factors
Humans
Rett Syndrome / classification,  etiology*,  physiopathology*
Sleep / physiology

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


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