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Pipis et al . describe the characteristics and longitudinal follow-up of 225 patients with Charcot-Marie-Tooth disease type 2A, caused by mutations in MFN2 . They describe how different mutations affect disease onset and rate of progression and identify sensitive clinical assessments that can be used for disease monitoring.

AIM To develop and validate the Visual Function Classification System (VFCS), which was created to classify how children with cerebral palsy (CP) use visual abilities in daily life.METHOD The process of development and validation of the VFCS involved four phases: (1) drafting of the five levels from the analysis of literature and clinical experience; (2) validation of constructs and revision of the levels for concept meaningfulness, using nominal group process; (3) refinement by international Delphi survey; and (4) assessment of interrater reliability among professionals and with caregivers, and of test-retest reliability.RESULTS Five nominal groups involved 29 participants; 65 people completed the first round and 51 the second round of the Delphi survey. Construct validity was demonstrated within an expert group and external validation through several stakeholders, with the involvement of patients and families to ensure meaningfulness of the concept. Discussions continued until consensus was reached about the construct and content of the five levels. Participants in the reliability study included 29 professionals, 39 parents, and a total sample of 160 children with CP (mean age [SD] 6y 6mo [3y 4mo]; median 5y 7mo, range 1-19y). Absolute interrater agreement among professionals was 86% (weighted j=0.88; 95% confidence interval [CI] 0.83-0.93). Test-retest reliability was high (weighted j=0.97; 95% CI 0.95-0.99). Parent-professional interrater reliability on 39 children was moderate (weighted j=0.51; 95% CI 0.39-0.63).INTERPRETATION The VFCS has been appropriately constructed and provides a reliable system to classify visual abilities of children with CP both in clinical and in research settings.

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