The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.

Children with developmental and epileptic encephalopathies often present with co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX-associated epilepsy-dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic and management challenges of ARX-related disorder and shed light on broader challenges concerning epilepsy-dyskinesia syndromes.

Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.

Status dystonicus is the most severe form of dystonia with life-threatening complications if not treated promptly. We present consensus recommendations for the initial management of acutely worsening dystonia (including pre-status dystonicus and status dystonicus), as well as refractory status dystonicus in children. This guideline provides a stepwise approach to assessment, triage, interdisciplinary treatment, and monitoring of status dystonicus. The clinical pathways aim to: (1) facilitate timely recognition/triage of worsening dystonia, (2) standardize supportive and dystonia-directed therapies, (3) provide structure for interdisciplinary cooperation, (4) integrate advances in genomics and neuromodulation, (5) enable multicenter quality improvement and research, and (6) improve outcomes. © 2024 International Parkinson and Movement Disorder Society.

Dihydroergotamine infusion for pediatric refractory headache: A retrospective chart review.

BACKGROUND: Headaches are a common symptom in children. Children with refractory headaches may be admitted for inpatient treatment with intravenous dihydroergotamine mesylate (DHE). However, very few studies have characterized these patients and their treatment outcomes using validated, self-reported, pain scales. OBJECTIVE: The objective of this study was to describe demographic and clinical characteristics of children admitted for DHE infusion, determine DHE treatment outcomes by means of numeric pain scale ratings, and explore associations between treatment outcomes and clinical characteristics. METHODS: Retrospective chart review was completed in patients ages 5-21 admitted for DHE infusion from January 2013 to July 2018 at a large, pediatric academic medical center and community-based satellite center. All primary headache types were included. RESULTS: A total of 200 unique admissions for DHE were available for analysis. Overall, patients were predominantly White (87.5%, 175/200) and female (80.0%, 160/200) with an average age of 15.4 years (SD 2.3). Common comorbidities included obesity (42.0%, 81/193), anxiety (41.0%, 82/200), and depression (20.0%, 40/200). The mean length of stay was 2.4 days (SD 1.10; range 1-8 days). Most headaches (65.0%, 130/200) met the International Classification of Headache Disorders, 3rd edition criteria for migraine, followed by new daily persistent headache (25.5%, 51/200). Mean DHE maximum dose was 5.3 (SD 2.17; range 0.5-14.5 mg) with most patients requiring 3.5-6.5 mg. DHE was typically terminated at six doses (range 1-15). The most frequently reported adverse event was nausea (5.5%, 11/200). There was no difference in pain severity at admission across headache types, with an average baseline pain score of 8.1 (SD 1.6). Posttreatment reduction in pain score was statistically significant (range: -3.2 to -4.9; each p < 0.001) across all headache types. Overall, 84.0% (168/200) of the patients had some improvement in pain. More than half of the patients (53.5%, 107/200) showed at least moderate improvement (≥50.0% reduction in pain score), and 18.0% (36/200) had full headache resolution. Limited patients (16.0%, 32/200) experienced no improvement in pain. CONCLUSIONS: Treatment with DHE resulted in at least some improvement for most patients regardless of headache type or number of doses. Clinical trials stratified by headache type and comorbid factors could help clarify treatment algorithms to optimize patient outcomes.

Pain in children: assessment and nonpharmacological management.

Pain perception in children is complex, and is often difficult to assess. In addition, pain management in children is not always optimized in various healthcare settings, including emergency departments. A review of pain assessment scales that can be used in children across all ages, and a discussion of the importance of pain in control and distraction techniques during painful procedures are presented. Age specific nonpharmacological interventions used to manage pain in children are most effective when adapted to the developmental level of the child. Distraction techniques are often provided by nurses, parents or child life specialists and help in pain alleviation during procedures.