Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder

Cognitive deficits are the most common complication in children with neurofibromatosis type 1 (NF1), and academic achievement is broadly affected. There is a lack of consensus in the literature regarding the frequency of general and specific learning disabilities, which seems to be related to the lack of a consensus on diagnostic criteria. The present study examined the frequency of specific learning disabilities (SLDs) in NF1, using an intellect-achievement discrepancy for diagnosis, as well as general learning difficulty associated with a lowering of general intellectual ability. The cohort consisted of 81 children with NF1 (43 males, 38 females; mean age 11y 6mo, [SD 2y 4mo]; range 8y-16y 9mo) and 49 comparison children (20 males, 29 females; mean age 12y [SD 2y 6mo]; range 8y 2mo-16y 8mo). Problems with academic achievement were present in 52% of children with NF1; however, only 20% of the children with NF1 were diagnosed with an SLD (32% had more general learning problems). Only males with NF1 were at significant risk for SLD, and Verbal IQ < Performance IQ discrepancies were predictive of the presence of an SLD. There was a significant comorbidity of literacy-based learning disabilities and attention-deficit-hyperactivity disorder. We were able to define three subtypes of children with NF1 having distinct cognitive profiles, each with important implications for assessment and remediation.