Catatonia and Maintenance Electroconvulsive Therapy in a 15-Year-Old Patient With MED13L Haploinsufficiency Syndrome in the Context of Epilepsy Diathesis.

ABSTRACT: This is the first report of pediatric catatonia syndrome in MED13L haploinsufficiency syndrome. This report describes unique challenges in diagnosis and management of catatonia in rare genetic conditions. The case also illustrates the use of electroconvulsive therapy in patients with epilepsy, epileptic encephalopathy, or other epileptic diathesis and the clinical conundrum in determining the course of maintenance electroconvulsive therapy.

Inequities in Therapy for Infantile Spasms: A Call to Action.

OBJECTIVE: The aim of this study was to determine whether selection of treatment for children with infantile spasms (IS) varies by race/ethnicity. METHODS: The prospective US National Infantile Spasms Consortium database includes children with IS treated from 2012 to 2018. We examined the relationship between race/ethnicity and receipt of standard IS therapy (prednisolone, adrenocorticotropic hormone, vigabatrin), adjusting for demographic and clinical variables using logistic regression. Our primary outcome was treatment course, which considered therapy prescribed for the first and, when needed, the second IS treatment together. RESULTS: Of 555 children, 324 (58%) were non-Hispanic white, 55 (10%) non-Hispanic Black, 24 (4%) non-Hispanic Asian, 80 (14%) Hispanic, and 72 (13%) other/unknown. Most (398, 72%) received a standard treatment course. Insurance type, geographic location, history of prematurity, prior seizures, developmental delay or regression, abnormal head circumference, hypsarrhythmia, and IS etiologies were associated with standard therapy. In adjusted models, non-Hispanic Black children had lower odds of receiving a standard treatment course compared with non-Hispanic white children (odds ratio [OR], 0.42; 95% confidence interval [CI], 0.20-0.89; p = 0.02). Adjusted models also showed that children with public (vs. private) insurance had lower odds of receiving standard therapy for treatment 1 (OR, 0.42; CI, 0.21-0.84; p = 0.01). INTERPRETATION: Non-Hispanic Black children were more often treated with non-standard IS therapies than non-Hispanic white children. Likewise, children with public (vs. private) insurance were less likely to receive standard therapies. Investigating drivers of inequities, and understanding the impact of racism on treatment decisions, are critical next steps to improve care for patients with IS. ANN NEUROL 2022;92:32-44.

A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome.

PURPOSE: The best possible outcomes in infantile epileptic spasms syndrome require electroclinical remission; however, determining electrographic remission is not straightforward. Although the determination of hypsarrhythmia has inadequate interrater reliability (IRR), the Burden of AmplitudeS and Epileptiform Discharges (BASED) score has shown promise for the reliable interictal assessment of infantile epileptic spasms syndrome. Our aim was to develop a BASED training program and assess the IRR among learners. We hypothesized moderate or better IRR for the final BASED score and the presence or absence of epileptic encephalopathy (+/-EE). METHODS: Using a web-based application, 31 learners assessed 12 unmarked EEGs (length 1-6 hours) from children with infantile epileptic spasms syndrome. RESULTS: For all readers, the IRR was good for the final BASED score (intraclass correlation coefficient 0.86) and +/-EE (Marginal Multirater Kappa 0.63). For all readers, the IRR was fair to good for all individual BASED score elements. CONCLUSIONS: These findings support the use of our training program to quickly learn the BASED scoring method. The BASED score may be a valuable clinical and research tool. Given that the IRR for the determination of epileptic encephalopathy is not perfect, clinical acumen remains paramount. Additional experience with the BASED scoring technique among learners and advances in collaborative EEG evaluation platforms may improve IRR.

Implementation of a Standardized Seizure Action Plan to Improve Communication and Parental Education.

BACKGROUND: Quality measures have highlighted the need for efficient treatment of status epilepticus. One strategy is prevention of refractory status epilepticus through individualized seizure action plans. As a quality improvement project, we implemented a standardized seizure action plan to improve the delivery of key information to families of children with seizures. METHODS: We implemented our standardized seizure action plan using plan-do-study-act cycles. The plans were distributed to caregivers of children (zero to 18 years) seen for seizures in outpatient neurology clinics. Families were given questionnaires at the beginning of each visit to gauge their understanding of their child's diagnosis, treatment, and comfort in emergency seizure management. Provider utilization rates and questionnaire responses were analyzed over time to assess the effectiveness of the action plan. RESULTS: Provider utilization rates of the standardized seizure action plan improved from 0% to 58.1%. At baseline, 31.5% caregivers indicated that they did not know their child's epilepsy syndrome or seizure type, 29.6% did not know the emergency protocol at their child's school, 9.2% did not know when to consider a seizure an emergency or what to do if their child's seizure had become an emergency, and 17.5% were not comfortable administering rescue medication. Caregivers who received the action plan had improved responses at subsequent visits (P < 0.001), whereas those who did not receive the standardized form did not improve. CONCLUSIONS: Standardizing provision of seizure action plans in pediatric neurology clinic can improve key elements of caregiver education regarding epilepsy diagnoses and seizure emergencies.

Sensitivity and Specificity of an Adult Stroke Screening Tool in Childhood Ischemic Stroke.

BACKGROUND: There are frequent delays in the diagnosis of acute pediatric ischemic stroke. A screening tool that could increase the suspicion of acute ischemic stroke could aid early recognition and might improve initial care. An earlier study reported that children with acute ischemic stroke have signs that can be recognized with two adult stroke scales. We tested the hypothesis that an adult stroke scale could distinguish children with acute ischemic stroke from children with acute focal neurological deficits not due to stroke. METHODS: We retrospectively applied an adult stroke scale to the recorded examinations of 53 children with acute symptomatic acute ischemic stroke and 53 age-matched control subjects who presented with focal neurological deficits. We examined the sensitivity and specificity of the stroke scale and the occurrence of acute seizures as predictors of stroke status. RESULTS: The total stroke scale did not differentiate children with acute ischemic stroke from those who had acute deficits from nonstroke causes; however, the presence of arm weakness was significantly associated with stroke cases. Acute seizures were significantly associated with stroke cases. CONCLUSIONS: An adult stroke scale is not sensitive or specific to distinguish children with acute ischemic stroke from those with nonstroke focal neurological deficits. The development of a pediatric acute ischemic stroke screening tool should include arm weakness and perhaps acute seizures as core elements. Such a scale must account for the limitations of language in young or intellectually disabled children.