Search

Epilepsy affects 1% of youth and is associated with neurocognitive and psychosocial comorbidities, increased risk of mortality, and poor health-related outcomes. Health disparities in children and youth with epilepsy (CYE) have been understudied. A Special Interest Group (SIG) within the Pediatric Epilepsy Research Consortium is conducting a scoping review to systematically assess the literature and highlight the gaps in access to clinical care and management of pediatric epilepsy. The methodology for this review is presented. In conducting a peer-reviewed assessment of the scope of health disparities in pediatric epilepsy, we learned that developing the methodology for and conducting a comprehensive scoping review with multiple contributors resulted in a time-intensive process. While there is an evidence to suggest that health disparities do exist in CYE, very few studies have focused on these disparities. Disparity results are often not included in key elements of articles, lending them to be underemphasized and underrecognized. Preliminary conclusions inform several important research considerations.

Background and objectivesStandard therapies (adrenocorticotropic hormone [ACTH], oral steroids, or vigabatrin) fail to control infantile spasms in almost half of children. Early identification of nonresponders could enable rapid initiation of sequential therapy. We aimed to determine the time to clinical remission after appropriate infantile spasms treatment initiation and identify predictors of the time to infantile spasms treatment response.MethodsThe National Infantile Spasms Consortium prospectively followed children aged 2-24 months with new-onset infantile spasms at 23 US centers (2012-2018). We included children treated with standard therapy (ACTH, oral steroids, or vigabatrin). Sustained treatment response was defined as having the last clinically recognized infantile spasms on or before treatment day 14, absence of hypsarrhythmia on EEG 2-4 weeks after treatment, and persistence of remission to day 30. We analyzed the time to treatment response and assessed clinical characteristics to predict sustained treatment response.ResultsAmong 395 infants, clinical infantile spasms remission occurred in 43% (n = 171) within the first 2 weeks of treatment, of which 81% (138/171) responded within the first week of treatment. There was no difference in the median time to response across standard therapies (ACTH: median 4 days, interquartile range [IQR] 3-7; oral steroids: median 3 days, IQR 2-5; vigabatrin: median 3 days, IQR 1-6). Individuals without hypsarrhythmia on the pretreatment EEG (i.e., abnormal but not hypsarrhythmia) were more likely to have early treatment response than infants with hypsarrhythmia at infantile spasms onset (hazard ratio 2.23, 95% CI 1.39-3.57). No other clinical factors predicted early responders to therapy.DiscussionRemission after first infantile spasms treatment can be identified by treatment day 7 in most children. Given the importance of early and effective treatment, these data suggest that children who do not respond to standard infantile spasms therapy within 1 week should be reassessed immediately for additional standard treatment. This approach could optimize outcomes by facilitating early sequential therapy for children with infantile spasms.

Acute flaccid myelitis (AFM) is a disabling, polio-like illness mainly affecting children. Outbreaks of AFM have occurred across multiple global regions since 2012, and the disease appears to be caused by non-polio enterovirus infection, posing a major public health challenge. The clinical presentation of flaccid and often profound muscle weakness (which can invoke respiratory failure and other critical complications) can mimic several other acute neurological illnesses. There is no single sensitive and specific test for AFM, and the diagnosis relies on identification of several important clinical, neuroimaging, and cerebrospinal fluid characteristics. Following the acute phase of AFM, patients typically have substantial residual disability and unique long-term rehabilitation needs. In this Review we describe the epidemiology, clinical features, course, and outcomes of AFM to help to guide diagnosis, management, and rehabilitation. Future research directions include further studies evaluating host and pathogen factors, including investigations into genetic, viral, and immunological features of affected patients, host-virus interactions, and investigations of targeted therapeutic approaches to improve the long-term outcomes in this population.

Byline: Sandeepkumar. Kuril, Pramod. Chopade, Mamatha. Mandava, Sonal. Bhatia Thoracic outlet syndrome (TOS), a rare condition, results from the compression of neurovascular structures traversing from the neck through the thoracic [...]

Byline: Carlos. Guerrero, Sonal. Bhatia Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of [...]

Byline: Sarah. Engel, Sonal. Bhatia Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, [...]

Neurothekeoma is a distinctive neoplasm that in the past was often lumped into the broad category of benign peripheral nerve sheath tumors. Atypical cellular neurothekeoma is a rare variant of this neoplasm. This atypical variant is characterized by features that can include the following: large sizes (up to 6 cm), deep penetration extending into skeletal muscle and/or subcutaneous fat, diffusely infiltrative borders, vascular invasion, high mitotic rate, and marked cytologic pleomorphism. In this report, we describe the clinical, histopathologic, and immunohistochemical features of a case of atypical cellular neurothekeoma in a 34-year-old woman. This neoplasm demonstrated both the cellular subtype and intermediate subtype. In the cellular area, cells demonstrated rounded or ovoid nucleus with abundant cytoplasm. Mitotic activity ranged from 8 to 12 per 10 high-powered fields, and few individual cell necroses were present. In the intermediate area, cells were arranged as smaller nests with admixed abundant mucin. Mitotic activity ranged from 1 to 2 per 10 high-powered fields. These cells were negative for S100, epithelial membrane antigen, and smooth muscle actin. Dermatologists should be aware of the features of atypical cellular neurothekeoma. Although the atypical features raise concern about the malignant potential of this lesion, previous cases show that complete surgical excision of these lesions is curative. S. BHATIA, MD, P. CHU, MD, AND J. M. WEINBERG, MD HAVE INDICATED NO SIGNIFICANT INTEREST WITH COMMERCIAL SUPPORTERS. [ABSTRACT FROM AUTHOR]

Objective: Lennox‐Gastaut syndrome (LGS) is a severe, childhood‐onset epilepsy that is typically refractory to treatment. We surveyed the current landscape of LGS treatment, aiming to identify challenges to the development of efficacious therapies, and to articulate corresponding priorities toward clinical trials that improve outcomes. Methods: The LGS Special Interest Group of the Pediatric Epilepsy Research Consortium integrated evidence from the literature and expert opinion, into a narrative review. Results: We provide an overview of approved and emerging medical, dietary, surgical and neuromodulation approaches for LGS. We note that quality of care could be improved by standardizing LGS treatment based on expert consensus and empirical data. Whereas LGS natural history is incompletely understood, prospective studies and use of large retrospective datasets to understand LGS across the lifespan would enable clinical trials that address these dynamics. Recent discoveries related to LGS pathophysiology should enable development of disease‐modifying therapies, which are currently lacking. Finally, clinical trials have focused chiefly on seizures involving “drops,” but should incorporate additional patient‐centered outcomes, using emerging measures adapted to people with LGS. Interpretation: Clinicians and researchers should enact these priorities, with the goal of patient‐centered clinical trials that are tailored to LGS pathophysiology and natural history. [ABSTRACT FROM AUTHOR]