Abstract

Variable language outcomes have been reported in children with the metabolic disorder galactosaemia (GAL), but these outcomes do not appear to be related to the severity of symptoms in the neonatal period, compliance with the non-dairy diet, or IQ. Currently, there is no means by which at-risk children with GAL can be identified early to initiate proactive language support. This case–control study aimed to provide preliminary data on pre-linguistic communication skills and current language skill performance in a male school-aged child with the disorder. Although the child's cognitive skills were in the average range, he presented with significantly reduced auditory comprehension skills and reduced skills across a number of pre-linguistic behaviours known to predict subsequent language skill development. The findings suggest that further investigation of early-developing pre-linguistic communication skills in children with GAL is warranted, in particular, prospective monitoring of emergent pre-linguistic communication skills in infants with the disorder.

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