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Children with neurofibromatosis type 1 (NF1) are at considerable risk for cognitive difficulties, including visuospatial deficits and executive dysfunction. This study aimed to (1) assess the overall performance of children with NF1 on the Rey-Osterrieth Complex Figure Test (RCFT) compared to unaffected siblings and (2) examine neuropsychological predictors of RCFT performance in children with NF1. A retrospective clinical audit was performed on neuropsychological records from a multidisciplinary NF1 Clinic in Australia. We searched for children that had completed an assessment between 2000 and 2015 which included the RCFT and other neuropsychological outcomes in this study. These included the Wechsler Intelligence Scale for Children, Judgment of Line Orientation (JLO), Tower of London test, Conners ADHD Scales, and the Behavioral Rating Inventory of Executive Function (BRIEF). The study population consisted of 191 children with NF1 aged 6–16 years, and 55 unaffected siblings recruited from a separate study. Results revealed that 62% of children with NF1 performed at or below the first percentile on the RCFT copy, which was significantly worse than their unaffected siblings. Visuospatial skills, parent-rated executive abilities, ADHD symptoms, and intellectual skills all predicted poorer performance on the RCFT copy, however the best fitting multiple regression model only contained the JLO, BRIEF Metacognition Index, and chronological age. The JLO emerged as the strongest predictor of RCFT performance. This study provides evidence that visuospatial deficits are a key driver of reduced RCFT performance in NF1 and that executive skills as well as a younger age are also independent predictors of RCFT performance. [ABSTRACT FROM AUTHOR]

Aim: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Responsiveness Scale, Second Edition (SRS-2) and the Social Skills Improvement System - Rating Scales (SSIS-RS), in children with neurofibromatosis type 1 (NF1). The aim of the study was to provide objective evidence as to which behavioural endpoint should be used in clinical trials.Method: Cross-sectional behavioural and demographic data were pooled from four paediatric NF1 tertiary referral centres in Australia and the United States (N=122; 65 males, 57 females; mean age [SD] 9y 2mo [3y], range 3-15y).Results: Distributions of SRS-2 and SSIS-RS scores were unimodal and both yielded deficits, with a higher proportion of severely impaired scores on the SRS-2 (16.4%) compared to the SSIS-RS (8.2%). Pearson's product-moment correlations revealed that both questionnaires were highly related to each other (r=-0.72, p<0.001) and to measures of adaptive social functioning (both p<0.001). Both questionnaires were significantly related to attention-deficit/hyperactivity disorder symptoms, but only very weakly associated with intelligence.Interpretation: The SRS-2 and SSIS-RS capture social dysfunction associated with NF1, suggesting both may be suitable choices for assessing social outcomes in this population in a clinical trial. However, careful thought needs to be given to the nature of the intervention when selecting either as a primary endpoint.What This Paper Adds: The Social Responsiveness Scale, Second Edition yielded a large deficit relative to population norms. The Social Skills Improvement System - Rating Scales yielded a moderate deficit relative to population norms. Both scales were highly correlated, suggesting that they are measuring a unitary construct. [ABSTRACT FROM AUTHOR]