Early neuropsychological signs of childhood adrenoleukodystrophy (ALD).

OBJECTIVE: To identify the very early signs of childhood cerebral adrenoleukodystrophy (CALD) in asymptomatic boys.

METHODS: Subjects were 8 neurologically and radiologically asymptomatic CALD patients. They were chosen from 22 ALD patients before hematopoietic stem cell transplantation (HSCT) treatment. Wechsler Intelligence Scale tests and other neuropsychological tests were performed. Their IQ data were compared with those of symptomatic ALD children with apparent brain lesions.

RESULTS: All asymptomatic CALD showed normal FIQ. PIQ was significantly lower than VIQ in 2 patients. Occipital lesioned patients often showed normal VIQ with low PIQ. Gestalt Closure in The Kaufman Assessment Battery for Children and Constancy of Shape in the Frostig Developmental Test of Visual Perception seemed to be effective for detecting visual cognitive dysfunction in asymptomatic CALD whose difference of VIQ and PIQ was within the normal range.

CONCLUSIONS: Follow-up of asymptomatic ALD boys with neuropsychological tests along with previously reported neurophysiological tests may help in determining the timing of therapeutic intervention. Neuropsychological abnormalities seemed to precede the appearance of clinical and MRI alterations.