ABSTRACT
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.
Acknowledgments
The authors want to thank all the parents and children involved in the study. A special thank goes to Associazione Italiana Sindrome di Alexander ‘Più Unici che Rari odv’ for their help in contacting families and their financial support.
Disclosure statement
No potential conflict of interest was reported by the author(s).