The emergence and development of language in infants and children with a diagnosis of galactosaemia

A number of previous studies have identified reduced language outcomes across the lifespan in individuals with galactosaemia [GAL]. The language difficulties and interfamilial sibling outcome variations that have been observed in GAL do not appear to be related to age at diagnosis and restriction of galactose intake, severity of symptoms at diagnosis, compliance with diet or necessarily IQ , suggesting other factors may be influencing outcomes. The inability to predict which children with GAL will experience compromised language outcomes is a major issue for parents as language impairment can present barriers to successful psychosocial, behavioural, and academic outcomes in children and lead to unfulfilled potential in adulthood. The research described through this platform presentation has the potential to lead to the development of assessment tools that will identify early which children are at risk of language deficits, which in turn will have an ongoing impact as the findings will provide a guide to optimising long-term quality of life outcomes in individuals with GAL through the minimisation of the impact of the metabolic disorder on functions such as communication abilities and development in childhood, adolescence, and ultimately adulthood