title: Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.
abstract: BACKGROUND
  Neonatal screening for galactosaemia (GAL) identifies the condition early, but subsequent biomedical and genetic testing fails to identify which subgroup of infants with GAL are at most risk of the language disorders associated with the condition. This study aims to present preliminary data on an infant with GAL based on assessment of pre-linguistic communication behaviours known to underpin language development.
  
  
  METHODS
  This single case-control study profiles the pre-linguistic skills of a 13-month-old infant with GAL. The Index Infant's performance was descriptively compared to that of a typically developing, suitably matched control infant.
  
  
  RESULTS
  The Index Infant was identified as presenting with clinically significant delays on 9 of the 11 pre-linguistic skills assessed.
  
  
  CONCLUSIONS
  The early identification of risk of developmental language difficulties in the Index Infant allows for the implementation of early intervention using the infant's parents as facilitators of language stimulation. Monitoring of the infant's progress is warranted.
authors.affiliation: Centre for Neurogenic Communication Disorders Research, School of Health and Rehabilitation Sciences, The University of Queensland , Brisbane , Australia.
authors.forename: Fiona M
authors.initials: FM
authors.lastname: Lewis
authors.forename: David J
authors.initials: DJ
authors.lastname: Coman
authors.forename: Sarah
authors.initials: S
authors.lastname: Kilcoyne
authors.forename: Bruce E
authors.initials: BE
authors.lastname: Murdoch
authors.forename: Maryanne
authors.initials: M
authors.lastname: Syrmis
mesh_terms: D016022:Case-Control Studies; D003142:Communication; D018479:Early Intervention, Educational; D005693:Galactosemias / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007804:Language Development; D007805:Language Development Disorders / Q000150:complications / Q000503:physiopathology*; D008297:Male; D010290:Parents
keywords: Galactosaemia; deficient language skill development; infancy; pre-linguistic communication skills