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. Discussion and Conclusion: 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.