Follow-up of language and cognitive development in patients with mannosidosis
R. B. Noll, R. Kulkarni and M. L. Netzloff
Three brothers with mannosidosis were assessed both biochemically by levels
of enzyme activities and developmentally by serial testing of language and
cognitive development. The findings indicated that while the leukocyte
enzyme activity of alpha-mannosidase was exceptionally low, only mild
intellectual deficits were present that did not progress during a two-year
follow-up. These results do not substantiate the expected relationship
between the severities of enzyme deficiency and developmental delays.
Language and cognitive deficits appeared uniform with no areas of strengths
or weaknesses. Deficits in development did not progress during a two-year
follow-up.
