Purpose Practitioners must have confidence in the capacity of their language measures to discriminate developmental language disorders from typical development and from other common disorders. In this study, psycholinguistic profiles were collected from 3 groups: children with specific language impairment (SLI), children with attention-deficit/hyperactivity disorder (ADHD), and children with typical development (TD). The capacity of different language indices to successfully discriminate SLI cases from TD and ADHD cases was examined through response operating characteristics curves, likelihood ratios, and binary logistic regression. Method The Test of Early Grammatical Impairment (Rice & Wexler, 2001a), Dollaghan and Campbell’s (1998) nonword repetition task, Redmond’s (2005) sentence recall task, and the Test of Narrative Language (Gillam & Pearson, 2004) were administered to 60 children (7–8 years of age). Results Diagnostic accuracy was high for all 4 psycholinguistic measures, although modest reductions were observed with the SLI versus ADHD discriminations. Classification accuracy associated with using the Test of Early Grammatical Impairment and the Sentence Recall task was equivalent to using all 4 measures. Implications Outcomes confirmed and extended previous investigations, documenting high levels of diagnostic integrity for these particular indices and supporting their incorporation into eligibility decisions, differential diagnosis, and the identification of comorbidity.

Objective: Tumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs) assessing pain and physical functioning should be included as study endpoints. Currently, there is no consensus on the selection and use of such measures in the NF population. This article presents the recommendations of the PRO group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration for assessing the domains of pain and physical functioning for NF clinical trials.Methods: The REiNS PRO group reviewed and rated existing PRO measures assessing pain intensity, pain interference, and physical functioning using their systematic method. Final recommendations are based primarily on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility for clinical trials.Results: The REiNS PRO group chose the Numeric Rating Scale-11 ($8 years) to assess pain intensity, the Pain Interference Index (6-24 years) and the Patient-Reported Outcome Measurement Information System (PROMIS) Pain Interference Scale ($18 years) to evaluate pain interference, and the PROMIS Physical Functioning Scale to measure upper extremity function and mobility ($5 years) for NF clinical trials. Conclusions:The REiNS Collaboration currently recommends these PRO measures to assess the domains of pain and physical functioning for NF clinical trials; however, further research is needed to evaluate their use in individuals with NF. A final consensus recommendation for the pain interference measure will be disseminated in a future publication based on findings from additional published research. Neurology ® 2016;87 (Suppl 1):S4-S12

Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitive endpoints in clinical trials. This article describes the work of the Neurocognitive Committee of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. The goal of this committee is to identify standardized and specific cognitive assessment tools for use in NF clinical trials. The committee first identified cognitive domains relevant to NF1 and prioritized attention as the first domain of focus given prior and current trends in NF1 cognitive clinical trials. Performance measures and behavioral rating questionnaires of attention were reviewed by the group using established criteria to assess patient characteristics, psychometric properties, and feasibility. The highest rated tests underwent side-by-side comparison. The Digit Span subtest from the Wechsler scales was given the highest ratings of the performance measures due to its good psychometrics, feasibility, utility across a wide age range, and extensive use in previous research. The Conners scales achieved the highest ratings of the behavioral questionnaires for similar reasons. Future articles will focus on other cognitive domains, with the ultimate goal of achieving agreement for cognitive endpoints that can be used across NF clinical trials. Neurocognitive sequelae in neurofibromatosis type 1 (NF1) have been well-documented and result in significant morbidity and dysfunction in children, adolescents, and adults with the disease. [1][2][3][4][5][6][7] Research has documented phenotypic patterns of cognitive dysfunction in NF1, as well as the functional impact these deficits have on individuals in naturalistic settings such as school and work. [8][9][10][11] Despite the high prevalence and significant morbidity of cognitive impairments, few intervention trials have targeted cognitive dysfunction as a primary endpoint. It is vital to establish standards to evaluate therapies for the treatment of cognitive deficits, and to work towards acceptance of cognition as a therapeutic target. Behavioral interventions to prevent or remediate cognitive deficits would benefit from consensus on cognitive endpoints as well. With these goals in mind, the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Neurocognitive Subcommittee was formed to identify standardized, specific cognitive endpoints for clinical trials.While human clinical trials targeting cognition in NF1 have been relatively slow to emerge, murine models of cognitive dysfunction have been ongoing since the original work of Silva †Deceased.

Delays in speech and articulation development have been found in school-aged children and adolescents with neurofibromatosis type 1 (NF1). This report examines speech and language skills of preschool children with NF1. Nineteen 3- to 5-year-old children diagnosed with NF1 were assessed using measures of articulation (GFTA-2), and receptive and expressive language (CELF-P2). Significant differences were observed between mean scores obtained by the group of children with NF1 compared to the validated controls from the speech and language instruments (P < or = 0.009). Sixty-eight percent of the children exhibited delays in speech and/or language. Thirty-two percent demonstrated delays in articulation, 37% percent demonstrated delays in receptive language, and 37% exhibited delays in expressive language. Sixteen percent of the children exhibited a voice disorder and 42% were judged to have a resonance problem. No significant differences were observed on any of the measures of speech and language for children with non-familial versus familial NF1. Results of this study support the need for early assessment of speech and language problems for children diagnosed with NF1 and implementation of appropriate timely intervention as needed.