Motor function domains in alternating hemiplegia of childhood

Abstract

Our data establish a detailed profile of motor function in alternating hemiplegia of childhood, argue against the presence of worse motor function in older patients, identify tools helpful in evaluating this population, and identify oropharyngeal function as the more severely affected domain, suggesting that brain areas controlling this function are more affected than others.

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood

“…Nevertheless, proper care of patients with AHC requires attention to all aspects of the disorder including neuropsychological aspects. Our findings also supplement our recent study that addressed the motor function aspects of the disease …”

“…This mouse manifests marked decrease in hippocampal GABAergic fast‐spiking interneuron firing supporting the notion of a GABAergic interneuronopathy in AHC . Also, our finding of more deficiencies in expressive than receptive language is consistent with our recent publication of marked dysfunction in oral motor control in patients with AHC, and with the observations that the frontal lobe is more likely to manifest decreased metabolism on positron emission tomography and atrophy on magnetic resonance imaging than more posterior cortex …”

Challenges describing motor profiles in alternating hemiplegia of childhood

“…Alternating hemiplegia of childhood (AHC) is a complex and rare neurological disorder, but clinical collaborations have now established diagnostic criteria . Mutations in the ATP1A3 gene have been identified in 75% to 85% of cases of AHC; however, AHC is only one of many phenotypes associated with this mutation . The rarity and heterogeneity of presentation poses a challenge to understanding the natural history of AHC, including motor profiles and developmental changes.…”

“…Masoud et al. emphasize that the lack of detail describing motor profiles of children with AHC has led to conflicting reports of deteriorating or a non‐progressive pathology …”

“…The classification scales included in the Masoud et al. study (Gross Motor Function Measure, Gross Motor Function Classification System, and Manual Ability Classification System) were originally developed for children with CP, but have also been used to assess children who present similarly to AHC . The motor speech scales selected varied with ability and age of the child, and the Dysphagia Outcome and Severity Scale was modified for use in children.…”