No abstract

Few studies have examined the cognitive profile of young children with NF1. In this study, 26 children with NF1 (M(age) = 5 years 3 months) were compared with 21 peer comparisons (M(age) = 4 years 8 months) and available normative data on neuropsychological measures. Children with NF1 demonstrated the characteristic downward shift in IQ, poor visuospatial constructional skills, and inattention. Working memory deficits were common in parental ratings. These findings suggest that at least some of the cognitive deficits associated with NF1 can be identified in the preschool-age group, highlighting the need for early assessment and intervention.

Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with a high frequency of cognitive and learning difficulties. Based on discrepancies between IQ and academic achievement, approximately 17% of children with NF1 have been classified as having reading impairments. In this study, the lexical and sublexical reading skills of children with NF1 (n = 30) were examined using the Castles' Word/Non-Word Test (modified version), together with measures of neuropsychological functioning and academic achievement. Twenty children (67%) demonstrated deficits in one or more reading subskills, with 75% of these meeting criteria for phonological dyslexia and 20% classified with mixed dyslexia. These findings indicate that a large proportion of children with NF1 may be characterized by a specific difficulty with the sublexical procedure, suggesting a difficulty employing spelling-to-sound rules to assemble a pronunciation when reading. In line with previous studies, the present findings also suggest that discrepancy-based methods may not be sufficiently sensitive to identify children who experience reading difficulties.