Cognitive functioning in pre-school children with classical galactosemia

Background: Classical galactosemia (CG) is an inborn error of galactose metabolism. A life-saving treatment consists of a severe restriction of dietary galactose. However, even early introduction of galactose-restricted diet fails to prevent long-term complications, including hypergonadotropic hypogonadism, cognitive and motor impairment, speech disturbances and finally neurological as well as psychiatric disorders. The study focused on the analysis of the selected cognitive variables that have not been thoughtfully researched so far.

Methods: The study included 27 children with CG (15 boys and 12 girls, aged between 3 to 5 years) and 27 gender and age-matched controls free of any metabolic disorders. Intelligence and Development Scales-Preschool have been used to assess cognitive variables. Statistical analysis has been performed with IBM SPSS Statistics.

Results: In comparison with control group, children with CG obtained significantly lower results in the domains that assessed auditory perception, phonological and visuospatial memory (p<0.001), conceptual reasoning (p=0.004), spatial reasoning (p=0.014), and selective attention (p=0.074) on the verge of statistical significance. As far as visual perception is concerned, no differences between the groups have been found (p=0.131). The IQ of CG children (M=83.89, SD=22.04) has been significantly lower (p<0.001) than IQ in control group (M=106.44, SD=15.95).

Conclusions: It is advised to monitor the cognitive development of pre-school children with CG and to introduce early therapeutic interventions in patients at risk of developmental disturbances.