Early markers of vulnerable language skill development in galactosaemia

Abstract

There are no known biomedical or genetic markers to identify which infants with galactosaemia (GAL) are most at risk of poor language skill development, yet pre-linguistic communicative ‘red flag’ behaviours are recognised as early identifiers of heightened vulnerability to impaired language development. We report on pre-linguistic development in two 18-month-old infants with GAL (one of each gender). Results identified the male as displaying significantly poorer pre-linguistic skills than both his matched peers and relative to the female infant with GAL, whose pre-linguistic skills were commensurate with or better than her matched peers. The results suggest that by 18 months of age, differential developmental language skills can be identified in infants with GAL when the focus is on pre-linguistic communication behaviours.

Keywords:

• galactosaemia
• infancy
• pre-linguistic communication
• early markers of vulnerability
• early identification and intervention

Acknowledgements

The authors wish to thank the families of the infants involved in the study as well as staff at the Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Australia for their support of the research. The research team's GAL research project is supported financially by The University of Queensland (Early Career Researcher Grant #2010002174) and Apex Foundation for Research into Intellectual Disability (Australia).

Notes on contributors

Fiona M. Lewis is a post-doctoral researcher with a background in speech pathology. She is engaged in research within the School of Health and Rehabilitation Sciences at The University of Queensland, Australia. She has an interest in developmental disorders of communication such as in autism spectrum disorder and in acquired disorders of communication, including following childhood cancer treatments, traumatic brain injury and metabolic disorders.

David J. Coman is a Metabolic Physician, Clinical Geneticist and a General Paediatrician. He is employed by Queensland Health and is actively involved in research and teaching via the School of Medicine at The University of Queensland.

Maryanne Syrmis has a first class honours degree in speech pathology and currently holds the position as Speech Pathologist Advanced – Complex Medical at the Royal Children's Hospital, Brisbane, Australia. She has a clinical interest in working memory, oral language and literacy difficulties.