title: Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome.
abstract: OBJECTIVE
  Recognition of the phenotypic spectrum and prognosis of a genetic disorder is critical to proper patient care. A 7-year-old boy with Sphrintzen-Goldberg syndrome (SGS) was studied to investigate speech, language and voice patterns associated with this syndrome.
  
  
  METHODS
  The child's language (expressive and receptive) and speech was characterized with regard to overall intelligibility, articulation (phonetic and phonological errors), voice (flexible videolaryngostroboscopy, quality, pitch and loudness) and resonance (type of disorders).
  
  
  RESULTS
  Based on this detailed study the most striking communication characteristics in this child with SGS appear to be a delayed speech and language onset, an expressive and receptive language disorder, a moderately impaired speech intelligbility, relatively good phonetic but poorer phonological abilities, an oral hypotonia, a high-pitched soft voice and a slight hypernasality.
  
  
  CONCLUSIONS
  The explanation for this communication disorder is not completely straightforward. It is not clear either to what extent the present case can be considered as typical for SGS. Only more data will allow to determine whether or not SGS is associated with a typical syndrome specific pattern of communication disorders. Not only detailed speech and language analyses of additional cases of SGS are necessary, but also studies that compare the speech and language of individuals with SGS with that of individuals with other genetic syndrome.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery and Speech Language Pathology, University Hospital Gent, 2P1, De Pintelaan 185, 9000 Gent Belgium. kristiane.vanlierde@ugent.be
authors.forename: Kristiane M
authors.initials: KM
authors.lastname: Van Lierde
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Nele
authors.initials: N
authors.lastname: Baudonck
authors.forename: Sofia
authors.initials: S
authors.lastname: De Ley
authors.forename: Luc A
authors.initials: LA
authors.lastname: Marks
authors.forename: John
authors.initials: J
authors.lastname: Van Borsel
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics; D001184:Articulation Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D003398:Craniosynostoses / Q000150:complications* / Q000235:genetics; D006311:Hearing Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D007806:Language Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008947:Mixed Connective Tissue Disease / Q000150:complications* / Q000235:genetics; D009123:Muscle Hypotonia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D009140:Musculoskeletal Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D012720:Severity of Illness Index; D013065:Speech Intelligibility; D013577:Syndrome; D014832:Voice Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014833:Voice Quality
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D030201:Activin Receptors, Type I; D000077293:Receptor, Transforming Growth Factor-beta Type I