title: Speech and language in Simpson-Golabi-Behmel syndrome: a case report.
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.
authors.affiliation: Department of Ear, Nose, & Throat, Ghent University Hospital, Ghent University, Ghent, Belgium. john.vanborsel@ugent.be
authors.forename: J
authors.initials: J
authors.lastname: Van Borsel
authors.forename: N
authors.initials: N
authors.lastname: Baudonck
authors.forename: H
authors.initials: H
authors.lastname: Verhaaren
authors.forename: K
authors.initials: K
authors.lastname: Van Lierde
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D040181:Genetic Diseases, X-Linked; D005824:Genetics, Behavioral; D053673:Glypicans / Q000235:genetics; D006801:Humans; D007805:Language Development Disorders; D008297:Male; D013064:Speech Disorders; D013577:Syndrome
chemical_list: D053673:Glypicans