Speech and language in Simpson-Golabi-Behmel syndrome: a case report

Genet Couns. 2008;19(2):241-9.

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder caused by a mutation of the glypican-3 gene. The physical characteristics associated with SGBS have been documented in several papers, but information on the behavioral phenotype is scarce. We report on the speech and language characteristics in an 8 year-old-boy with SGBS. The boy performed very well on formal language tests but he also demonstrated poor pragmatic skills. Speech was characterized by a distorted articulation, distorted resonance, fluency failures, and a stereotype prosody. Many more case descriptions are necessary to delineate the full range of the behavioral phenotype of SGBS.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Genetic Diseases, X-Linked*
  • Genetics, Behavioral
  • Glypicans / genetics
  • Humans
  • Language Development Disorders*
  • Male
  • Speech Disorders*
  • Syndrome

Substances

  • Glypicans