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

Abstract

Aim To determine the neuropsychological abnormalities that occur in alternating hemiplegia of childhood (AHC) and report on our experience in managing them. Method Patients underwent evaluations according to our standardized AHC pathway. Data were entered into our prospective AHC database and then analyzed. Results Of the cohort of 25 consecutive patients (ages 15mo–42y), eight had initial chief complaints about cognition, 14 language, five attention, and 11 behavior. As compared to population norms means, neuropsychological and behavioral assessment tools (including Child Behavior Checklist, Vineland Adaptive Behavior Scales, Peabody Picture Vocabulary, and Wechsler Intelligence Quotient tests) showed significant impairments in multiple domains: cognition, expressive and receptive language, executive function/attention, and behavior (p<0.05 in all comparisons). Evaluations generated management recommendations in all patients. Twenty had neuropsychiatric diagnoses: 10 attention‐deficit/hyperactivity disorder (ADHD), seven disruptive behavior, and three anxiety disorder. Eight out of nine patients with ADHD who were prescribed medications responded to pharmacotherapy. Interpretation Patients with AHC have developmental difficulties related to impairments in multiple neuropsychological domains. This supports the hypothesis that the underlying AHC pathophysiology involves diffuse neuronal dysfunction. Testing generated recommendations to help manage these difficulties. Patients with AHC also have a range of neuropsychiatric diagnoses, the most common being ADHD which responds to pharmacotherapy. What this paper adds Patients with alternating hemiplegia of childhood (AHC) have developmental difficulties with underlying neuropsychological impairments. The findings in this study are consistent with an underlying AHC pathophysiology which involves diffuse neuronal, probably largely GABAergic, dysfunction. Patients with AHC have a range of neuropsychiatric diagnoses, the most common being attention‐deficit/hyperactivity disorder.

Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non‐paroxysmal characteristics

“…The management recommendations that follow result from the specific difficulties identified. The current paper by Jasien et al . also augments a previous publication by the same team exploring motor function and dysfunction in AHC …”

“…Due to the complexity and rarity of the disorder, such features were not well described until now. Jasien et al 4 have attempted to better characterize the cognitive, adaptive, and behavioral profiles in patients with AHC. They also report on their team's experience in the management of neuropsychological deficiencies.…”

Movement disorders in patients with alternating hemiplegia

“…Patients with dystonia and/or chorea (n=18) were compared to those without dystonia or chorea (n=10). The former tended to be older at inclusion ( [3][4][5][6]; p=0.012). The latter was calculated using a modified DI score without dystoniachorea items.…”

“…To date, the majority of studies concerning AHC were dedicated to hemiplegic attacks and other paroxysmal phenomena. More recently, published studies have attempted to better characterize the non-paroxysmal phenomena in patients with AHC in terms of motor function 5 and cognitive and behavioural profiles 6 but there is a lack of data focusing on the nature and characteristics of NPMDs. The aim of this study was to asses NPMDs in a group of patients with AHC, defined by Aicardi's criteria and harbouring a pathogenic ATP1A3 mutation, with special focus on (i) the impact of movement disorders, especially dystonia and/or chorea, on global neurological impairment; (ii) the association between movement disorders and other clinical symptoms; (iii) the hypothesized correlation between genotype and occurrence of movement disorders…”

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments

“…Physicians taking care of patients with AHC should be aware of motility and other gastrointestinal problems that can affect patients with AHC, and should have a low threshold to investigate for these disorders if suggestive symptoms occur. The occurence of neuropsychological impairments, severe hemiplegia, epileptic seizures, status epilepticus and dystonia spells often overshadows the gastrointestinal manifestations and monopolizes neurologists' and primary care physicians' time in the care of AHC patients [16]. This emphasizes the importance of multidisciplinary team care of those patients.…”