A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder

Yoriko Watanabe, Shoji Yano, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Makoto Yoshino, Toyojiro Matsuishi

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)576-579
Number of pages4
JournalBrain and Development
Volume33
Issue number7
DOIs
Publication statusPublished - 2011 Aug 1

Keywords

  • LEOPARD syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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