title: Speech and language in Wolf-Hirschhorn syndrome: a case-study.
abstract: Wolf-Hirschhorn syndrome (WHS), a condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with a severe phenotypic expression including multiple malformations, delayed psychomotor development, and profound learning disabilities. As far as communicative development is concerned, speech is usually absent and comprehension is limited to simple orders or to a specific context. There is some suggestion, however, that the developmental outcome in WHS depends on deletion size. This paper reports on an individual with WHS illustrating that a smaller deletion may result in a milder phenotype with respect to communicative abilities. This 10-year-old girl developed speech and language to a considerable degree. Although most children with this syndrome are severely limited in communicative abilities, the school-based speech-language pathologist working with a special education caseload may encounter WHS children with smaller deletions (and thus less severe phenotypes) who may profit from speech language pathology services.
  
  
  OBJECTIVE
  The reader will learn about the genetics, incidence, and clinical characteristics of Wolf-Hirschhorn syndrome, and about the communicative abilities and genotype/phenotype correlations in children with this syndrome.
authors.affiliation: ENT Department, Ghent University Hospital, Ghent, Belgium. john.vanborsel@rug.ac.be
authors.forename: John
authors.initials: J
authors.lastname: Van Borsel
authors.forename: Sigrid
authors.initials: S
authors.lastname: De Grande
authors.forename: Griet
authors.initials: G
authors.lastname: Van Buggenhout
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007806:Language Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011596:Psychomotor Disorders / Q000150:complications / Q000235:genetics; D012720:Severity of Illness Index; D013064:Speech Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; D011495:Histone-Lysine N-Methyltransferase; C432968:NSD3 protein, human