COGNITIVE-FUNCTIONING, NEUROLOGIC STATUS AND BRAIN IMAGING IN CLASSICAL GALACTOSEMIA

A historical group of 45 children (4-18 years) and adults (18-39 years ) with classical galactosemia had deficits of cognitive function that were variable and not related to the age at diagnosis or to severity o f illness at presentation. There was a trend for patients to score hig hest on visual processing tasks. The standardized tests of speech and memory skills fell within the same range as the Broad Cognitive Abilit y score, indicating that the speech and language deficits may be part of a more global set of cognitive impairments. Scores on the Beery Vis ual Motor Integration and Block Design Tests fell in approximately the same range as other cognitive abilities. In addition, there was a hig h incidence of abnormality detected on MRI and 12 patients had neurolo gic symptoms that included ataxia, tremor and dysmetria. These abnorma lities did not correlate with the age at diagnosis, severity of illnes s at presentation or scores on cognitive testing. The pathophysiology of neurologic and neuropsychologic impairments remains unknown. Since these appear to be unrelated to the duration of galactose exposure, ot her factors impacting on outcome need to be understood so that strateg ies can be developed to improve what appears to be a global impairment of cognitive function.