Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemia

Abstract

Sub-optimal language development is associated with the metabolic disorder galactosaemia (GAL). Some children with GAL are identified with language impairment from the initial stages of language learning, but a subset of children may exhibit disrupted developmental gains in speech and language skill after a period of age-appropriate skill development. The developmental trajectory of communicative skills in a female with GAL who at 18 months of age presented with age-appropriate skills is presented. Monitoring over an 18-month period indicated appropriate developmental pace on all measures, but receptive vocabulary development is developing at a lower level of functioning. Her below-average vocabulary skills coupled with the risk of emerging skill deficits concomitant with ongoing disruptions to central nervous system maturation associated with GAL suggests an increased risk of emergent skill deficits. Maturation of language capabilities is ongoing; therefore age at assessment may be critical to the timely documentation of lack of skill progression.

Keywords:

• galactosaemia
• GALT
• myelin development
• neurodevelopmental outcomes
• language development
• vocabulary
• identification and intervention

Acknowledgements

The authors wish to thank Michèle and her family 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).

Shannon DeJonge (Master of Science, University of Wisconsin-Whitewater) contributed to this paper during time spent in 2013 with the School of Health and Rehabilitation Sciences, The University of Queensland as an Occupational Trainee under the guidance of Dr Fiona Lewis.

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.

Shannon M. DeJonge has a master of science in communication sciences and disorders. She has a clinical interest in working with young children and their families to optimise language development.

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.