Developmental Profiles in Children and Young Adults with Alexander Disease

Purpose: 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. Methods: 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. Results: 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. Conclusions: The high individual variability and the regressive trend highlight the need for an accurate and periodic assessment of each individual’s developmental profile.