Document Detail


A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.
MedLine Citation:
PMID:  21093184     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
A connection between LEOPARD syndrome (a rare autosomal dominant disorder) and autism spectrum disorders (ASDs) may exist. Of four related individuals (father and three sons) with LEOPARD syndrome, all patients exhibited clinical symptoms consistent with ASDs. Findings included aggressive behavior and impairment of social interaction, communication, and range of interests. The coexistence of LEOPARD syndrome and ASDs in the related individuals may be an incidental familial event or indicative that ASDs is associated with LEOPARD syndrome. There have been no other independent reports of the association of LEOPARD syndrome and ASDs. Molecular and biochemical mechanisms that may suggest a connection between LEOPARD syndrome and ASDs are discussed.
Authors:
Yoriko Watanabe; Shoji Yano; Tetsuya Niihori; Yoko Aoki; Yoichi Matsubara; Makoto Yoshino; Toyojiro Matsuishi
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Publication Detail:
Type:  Journal Article     Date:  2010-11-18
Journal Detail:
Title:  Brain & development     Volume:  33     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-07-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  576-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Affiliation:
Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Japan.
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