Neurocognitive profiles of learning disabled children with neurofibromatosis type 1

Abstract

Neurofibromatosis 1 (NF1) is a genetic condition generally associated with intellectual deficiency and learning disabilities. Although there have been groundbreaking advances in the understanding of the molecular, cellular, and neural systems underlying learning deficits associated to NF1 in animal models, much remains to be learned about the spectrum of neurocognitive phenotype associated with the NF1 clinical syndrome. In the present study, 32 children with NF1 ranging from 7 to 14 years were evaluated with neurocognitive tests dedicated to assess basic capacities which are involved in reading and mathematical achievement. Deficits in lexical and phonological strategies and poor number facts retrieval were found underlying reading and arithmetic disorders, respectively. Additionally, efficiencies in lexical/phonological strategies and mental arithmetic were significant predictors of individual differences in reading attainment and math. However, deficits in core numeric capacities were not found in the sample, suggesting that it is not responsible for calculation dysfluency. The estimated prevalence of Developmental Dyscalculia was 18.8%, and the male:female ratio was 5:1. On the other hand, the prevalence of Developmental Dyslexia was almost 3 times as high (50%), and no gender differences were found (male: female ratio = 1:1). This study offers new evidence to the neurocognitive phenotype of NF1 contributing to an in depth understanding of this condition, but also to possible treatments for the cognitive deficits associated with NF1.

Teaching reading to children with neurofibromatosis type 1: a clinical trial with random assignment to different approaches

“…2,3 Related to academic achievement, attention-deficit-hyperactivity disorder (ADHD) is a common comorbid diagnosis occurring in about 60% of children with NF1, and an estimated 30% to 75% have poor academic achievement in specific subjects like spelling, math, and reading. 11,[13][14][15][16][17][18] This is much higher than the estimated 5% incidence of ADHD and 5% to 17% incidence of specific learning disabilities in the general population. 19,20 Indeed, compared to those without NF1, children with NF1 are four times more likely to qualify for special education services and six times more likely to receive remedial teaching.…”

“…Of specific interest for this study, reading deficits are the most common form of specific learning disability in the general population, and this is also true among children with NF1 . However, thus far only a handful of studies have investigated children with NF1 and reading deficits (NF+RD) in any great depth .…”

Preliteracy impairments in children with neurofibromatosis type 1

“…2 Academic underachievement is also common in NF1, 3 with reading disabilities highly prevalent. 4 Up to 67% of school-aged children with NF1 demonstrate single-word reading impairments 5 and there are high rates of reading comprehension difficulties. 6 Despite the high incidence of reading impairment in school-aged children with NF1, little is known about the development of literacy precursor skills, such as phonological processing in younger children.…”

Evaluation of phonological processing skills of young children with neurofibromatosis type 1

“…In the preschool years, children with the neurocutaneous genetic disorder neurofibromatosis type 1 (NF1) may exhibit delays in speech and/or language. Approximately 30% to 65% of school‐aged children with NF1 exhibit SLD . Currently, the nature of SLD in NF1 is unclear.…”

“…Approximately 30% to 65% of school-aged children with NF1 exhibit SLD. 2 Currently, the nature of SLD in NF1 is unclear. Learning disability subtypes have varied across studies, depending on the populations included or the models or profiles utilized in the investigations.…”