Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases

Educational achievement, which for individuals with the metabolic disorder classic galactosemia (GAL) is significantly lower than in the wider population, correlates with self-reported quality of life. Phonological awareness skills underpin the development of literacy, and although literacy is a key contributor to successful academic outcomes, no study to date has investigated phonological awareness skills in children with GAL. This study investigated phonological awareness (PA) in four school-aged children with the disorder, two of whom were siblings. Age range for the children was 7 years 7 months to 9 years 2 months. Each child was assessed with the Phonological Awareness criterion-referenced subtest from the Clinical Evaluation of Language Fundamentals-Fourth Edition. Included in the data for analysis was each child's performance measures obtained from their most recent assessment of cognitive and lexical development. A number of descriptive analyses were undertaken on the data. One child, who met her age criterion for PA, had cognitive and lexical development skills in the average range. The remaining three children failed to meet their age criteria. Although these three children presented with clinically similar cognitive and lexical development skills, disparate PA skills were identified. The PA skills of one of the sibling pair were notably more advanced than his older sibling. The limitations of relying on behavioural test results in children with GAL to predict those most at risk of reduced skill development are discussed in terms future research directions.