Neurology. Genetics · 2026
Alternating Hemiplegia of Childhood: Development of a Disease-Specific Clinical Rating Scale.
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Stagnaro Michela, Fons Carmen, Panagiotakaki Eleni, Signori Alessio, Tiziano Francesco Danilo, Cordani Ramona, Pisciotta Livia, Nobili Lino, Anticona Jennifer, Campistol Plana Jaume, Papadopoulou Maria T, Papathanasiou Terzi Matthildi Athina, Arzimanoglou Alexis A, Mikati Mohamad A, Roubertie Agathe, Bhatia Kailash P, De Grandis Elisa
Аннотация
BACKGROUND AND OBJECTIVES: Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder, primarily caused by pathogenic variants in ATP1A3 that account for approximately 80% of cases. It is characterized by both paroxysmal and chronic neurologic features. Currently, no validated, disease-specific clinical outcome measures exist for AHC, limiting standardized assessment and longitudinal tracking. We aimed to develop and validate the AHC Rating Scale (AHC-RS), a tool applicable across all age groups. We hypothesized that the AHC-RS would demonstrate strong inter-rater reliability and construct validity.
METHODS: We conducted a multicenter observational study to assess the reliability and validity of the AHC-RS. Patients with clinically or genetically confirmed AHC-the sole inclusion criterion-were recruited from specialized neurology centers in Italy, Spain, and France. Each participant was visited following a standardized video protocol and evaluated independently by 4 trained neurologists using the AHC-RS. The primary outcome was inter-rater reliability, measured using the intraclass correlation coefficient (ICC). Construct validity was assessed through correlation with the Burke-Fahn-Marsden Dystonia Rating Scale.
RESULTS: Forty-eight patients, 45.8% men and 54.2% women (median age: 18.6 years - SD: 12.4, range 2-48), were included. The AHC-RS evaluates 4 different domains: Paroxysmal Nonepileptic Manifestations, Epilepsy, Nonparoxysmal Manifestations, and Adaptive Capacities. Inter-rater reliability was excellent across all domains (ICC: 0.95-0.99). Construct validity was supported by a moderate correlation between the AHC-RS total score and the Burke-Fahn-Marsden Scale (Spearman rho = 0.58; 95% CI 0.29-0.78). A strong correlation was observed between the Nonparoxysmal Score and the Adaptive Score (r = 0.74; 95% CI: 0.58-0.85), while the Paroxysmal Nonepileptic Score and Nonparoxysmal Score were not significantly associated.
DISCUSSION: The AHC-RS shows excellent inter-rater reliability and good construct validity, supporting its use as a disease-specific outcome measure for AHC. These findings confirm clinical observations that paroxysmal and chronic symptoms may progress independently and highlight the greater impact of nonparoxysmal features on long-term functional outcomes. This scale offers a standardized tool for both clinical evaluation and future therapeutic trials. Further validation in larger and more diverse cohorts is warranted.
METHODS: We conducted a multicenter observational study to assess the reliability and validity of the AHC-RS. Patients with clinically or genetically confirmed AHC-the sole inclusion criterion-were recruited from specialized neurology centers in Italy, Spain, and France. Each participant was visited following a standardized video protocol and evaluated independently by 4 trained neurologists using the AHC-RS. The primary outcome was inter-rater reliability, measured using the intraclass correlation coefficient (ICC). Construct validity was assessed through correlation with the Burke-Fahn-Marsden Dystonia Rating Scale.
RESULTS: Forty-eight patients, 45.8% men and 54.2% women (median age: 18.6 years - SD: 12.4, range 2-48), were included. The AHC-RS evaluates 4 different domains: Paroxysmal Nonepileptic Manifestations, Epilepsy, Nonparoxysmal Manifestations, and Adaptive Capacities. Inter-rater reliability was excellent across all domains (ICC: 0.95-0.99). Construct validity was supported by a moderate correlation between the AHC-RS total score and the Burke-Fahn-Marsden Scale (Spearman rho = 0.58; 95% CI 0.29-0.78). A strong correlation was observed between the Nonparoxysmal Score and the Adaptive Score (r = 0.74; 95% CI: 0.58-0.85), while the Paroxysmal Nonepileptic Score and Nonparoxysmal Score were not significantly associated.
DISCUSSION: The AHC-RS shows excellent inter-rater reliability and good construct validity, supporting its use as a disease-specific outcome measure for AHC. These findings confirm clinical observations that paroxysmal and chronic symptoms may progress independently and highlight the greater impact of nonparoxysmal features on long-term functional outcomes. This scale offers a standardized tool for both clinical evaluation and future therapeutic trials. Further validation in larger and more diverse cohorts is warranted.