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The study aims to describe the developmental profile of children and young adults with Alexander disease [AxD] infantile form, analyzing their clinical features, adaptive behavior and neuropsychological skills. Participants were eight children or young adults (Mean age = 11 years; SD = 6.86; range = 5–23) and their parents. A multi-method approach was adopted to assess participant competencies: (1) an online parent survey, (2) a semi-structured interview with parents, and (3) a direct assessment of the participant’s neuropsychological skills. Only four parents and their children completed all measures, and a common developmental profile could not be identified. The participants experienced substantial impairment in gross-motor skills, memory and narrative macrostructure. Most parents reported a regressive trend in at least one area. The high individual variability and the regressive trend highlight the need for an accurate and periodic assessment of each individual’s developmental profile.

Developmental Profiles in Children and Young Adults with Alexander Disease