Phonics Training Improves Reading in Children with Neurofibromatosis Type 1: A Prospective Intervention Trial.

OBJECTIVE: To examine the efficacy of a phonics-training program in children with neurofibromatosis type 1 (NF1) and reading difficulties. STUDY DESIGN: Thirty children (7-12 years of age) with NF1 completed a double-baseline, 24-week intervention trial. Literacy outcome measures were assessed at 4 time points: (1) at baseline; (2) after an 8-week no-treatment period; (3) immediately post-treatment; and (4) at follow-up 8 weeks post-treatment. Repeated-measures ANOVA were conducted to examine change over time for all outcome measures, and significant main effects were explored with planned comparisons. Predictors of treatment effects were examined by linear regressions. RESULTS: Ninety percent of participants completed the intervention. Intervention-specific improvements were observed across a range of literacy outcomes, including reading accuracy (nonword reading, Cohen d = 1.10; regular-word reading, Cohen d = 0.32), letter-sound knowledge (Cohen d = 0.80), blending (Cohen d = 0.88), repetition of nonsense words (Cohen d = 0.94), phonemic decoding fluency (Cohen d = 0.55), and reading comprehension (Cohen d = 0.31). Improvements were maintained 8 weeks post-treatment. Age (P = .03) and working memory (P = .02) significantly influenced efficacy, with greatest improvements observed in older children with stronger verbal working memory capacity. CONCLUSIONS: Home-based, computerized reading intervention was effective in improving the reading and reading-related abilities of children with NF1 and reading difficulty. TRIAL REGISTRATION: Australian and New Zealand Clinical Trials Registry: ACTRN12611000779976.

Developmental trajectories of young children with neurofibromatosis type 1: a longitudinal study from 21 to 40 months of age.

OBJECTIVE: To establish the developmental trajectory of young children with neurofibromatosis type 1 (NF1) during the first 4 years of life. STUDY DESIGN: In this longitudinal study, 39 children with NF1 and 39 controls were assessed with the Bayley Scales of Infant Development, Second Edition at 21 (time point 1, or T1) and 30 months (T2) of age, and the Wechsler Preschool and Primary Scale of Intelligence, Third Edition at 40 months (T3). Language was also assessed at T2 and T3. Parents rated their child's productive vocabulary at T1 and T2, and behavior at each time point. Linear mixed models were performed to examine cognitive development and behavior over time. Linear regressions were conducted to determine whether mental development and productive vocabulary at T1 or T2 predicted intellectual and language outcomes at T3. RESULTS: Over time, the NF1 group had significantly lower cognitive scores than controls. Parent ratings indicated no group differences in behavior at each time point. Earlier mental function significantly predicted later general intelligence. Earlier productive vocabulary was a significant predictor of later language skills. CONCLUSIONS: There are consistent differences over time in cognitive performance between children with NF1 and unaffected peers during the early childhood period. Earlier mental function and productive vocabulary are significant predictors of subsequent general intelligence and performance on language measures in NF1. This provides an opportunity for early identification and treatment for young children with NF1 who may show signs of impairments in these developmental domains.

Cognitive features that distinguish preschool-age children with neurofibromatosis type 1 from their peers: a matched case-control study.

OBJECTIVE: To examine the cognitive functioning of 40-month-old children with neurofibromatosis type 1 (NF1). STUDY DESIGN: In this case-control study, 43 children with NF1 and 43 comparison children (matched by age, sex, and maternal years of education) were assessed using the Wechsler Preschool and Primary Scale of Intelligence, Third Edition. Language, visual perception, preliteracy, and executive functioning were also examined. Parents completed questionnaires about their child's behavior. Group differences were examined using the paired-samples t test or the related Wilcoxon signed rank test. Conditional logistic regression was conducted to identify which cognitive variables predicted group membership (ie, NF1 or control). RESULTS: The NF1 group had significantly poorer general intelligence than matched comparisons. Preschool-age children with NF1 had significantly poorer language, visual perception, response inhibition, and preliteracy skills than comparison children. The Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Object Assembly and Information subtests were significant predictors of group membership. Parent ratings indicated no group differences in behavior. CONCLUSIONS: After accounting for potentially confounding variables of age, sex, and maternal years of education, young children with NF1 have significantly poorer intellectual functioning, expressive language, and visual perception. These cognitive features that distinguish young children with NF1 from healthy peers can be detected in the preschool age group and are likely to impact on learning and performance during early school years. These areas should be targeted for intervention to maximize the developmental outcomes of young children with NF1.