Document Detail


Rett syndrome: model of neurodevelopmental disorders.
MedLine Citation:
PMID:  16225824     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene MECP2. However, mutations in MECP2 also have been identified in normal carrier female individuals, female individuals with mild learning disabilities and features of Angelman syndrome, and male individuals with Klinefelter syndrome or Rett syndrome-like features, fatal neonatal encephalopathy, and familial X-linked mental retardation with or without motor abnormalities. Therefore, molecular testing should be considered for a wide spectrum of individuals. As such, Rett syndrome remains a clinical diagnosis. In this article, we also discuss three recent developments: (1) the recognition of significant gallbladder dysfunction, especially in those 20 years of age or younger; (2) a clinical trial of folate and betaine, which produced no objective improvement but did yield a subjective increase in attention and interaction; and (3) measurement of cerebrospinal fluid folate levels in a large cohort, which yielded normal values, indicating no need for supplementation.
Authors:
Alan K Percy; Jane B Lane
Related Documents :
11453454 - High mitochondrial dna t8993g mutation (<90%) without typical features of leigh's and n...
8640224 - Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations ...
12189494 - Sox10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathol...
20681224 - A turkish patient of typical loeys-dietz syndrome with a tgfbr2 mutation.
17194594 - Tremor/ataxia syndrome and fragile x premutation: diagnostic caveats.
18209444 - The superior vena cava syndrome: late presentation after hemodialysis catheter removal.
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; 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:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  718-21     Citation Subset:  IM    
Affiliation:
Civitan International Research Center, University of Alabama, Birmingham, AL 35294, USA. apercy@uab.edu
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Betaine / therapeutic use
Female
Folic Acid / therapeutic use
Gallbladder Diseases / etiology
Gastrointestinal Agents / therapeutic use
Hematinics / therapeutic use
Humans
Infant
Methyl-CpG-Binding Protein 2 / genetics
Rett Syndrome / diagnosis*,  drug therapy,  genetics
Grant Support
ID/Acronym/Agency:
HD38985/HD/NICHD NIH HHS; HD40301/HD/NICHD NIH HHS; M01RR00032/RR/NCRR NIH HHS; RR019478/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Gastrointestinal Agents; 0/Hematinics; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 107-43-7/Betaine; 59-30-3/Folic Acid

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


Previous Document:  The human secretin gene in children with autistic spectrum disorder: screening for polymorphisms and...
Next Document:  Rett syndrome: long-term clinical follow-up experiences over four decades.