Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.

OBJECTIVE: Lead time to treatment (clinical onset of epileptic spasms [ES] to initiation of appropriate treatment) is known to predict outcomes in infantile epileptic spasms syndrome (IESS). Timing the clinical onset of ES is crucial to establish lead time. We investigated how often ES onset could be established to the nearest week. We aimed to (1) ascertain the exact date or estimate the nearest week of ES onset and (2) compare clinical/demographic factors between patients where date of ES onset was determined or estimated to the nearest week and patients whose date of ES onset could not be estimated to the nearest week. Reasons for difficulties in estimating date of ES onset were explored. METHODS: Retrospective chart review of new onset IESS patients (January 2019-May 2022) extracted the date or week of the clinical onset of ES. Predictors of difficulty in date of ES onset estimation to the nearest week were examined by regression analysis. Sources contributing to difficulties determining date of ES onset were assessed after grouping into categories (provider-, caregiver-, disease-related). RESULTS: Among 100 patients, date of ES onset was estimated to the nearest week in 47%. On univariable analysis, age at diagnosis (p = .021), development delay (p = .007), developmental regression/stagnation (p = .021), ES intermixed with other seizures (p = .011), and nonclustered ES at onset (p = .005) were associated with difficulties estimating date of ES onset. On multivariable analysis, failure to establish date of ES onset was related to ES intermixed with other seizures (p = .004) and nonclustered ES at onset (p = .003). Sources contributing to difficulties determining date of ES onset included disease-related factors (ES characteristics, challenges interpreting electroencephalograms) and provider/caregiver-related factors (delayed diagnosis). SIGNIFICANCE: Difficulties with estimation of lead time (due to difficulties timing ES onset) can impact clinical care (prognostication), as even small increments in lead time duration can have adverse developmental consequences.

Delays to care in infantile epileptic spasms syndrome: Racial and ethnic inequities.

OBJECTIVE: Non-Hispanic (NH) Black children are less likely to receive a standard treatment course for infantile epileptic spasms syndrome (IESS) than White/NH children at pediatric tertiary care epilepsy centers in the United States. However, if inequities exist in time to diagnosis is unknown. Diagnostic delays as little as 1 week can be associated with worse developmental outcomes. METHODS: Diagnostic delays were evaluated in a retrospective cohort of 100 children with new onset IESS between January 2019 and May 2022. RESULTS: Children with Black, Indigenous, and People of Color (BIPOC) caregivers were more likely to experience clinically significant delays in referral from first provider to neurologist, when compared to White/NH children, even after controlling for other demographic and clinical variables (odds ratio = 4.98, confidence interval = 1.24-19.94, p = .023). SIGNIFICANCE: Disproportionate diagnostic delays place BIPOC children at risk of adverse developmental and epilepsy outcomes. Further interventional prospective and qualitative studies are needed to address inequities in care.

Thin on the ground: Primary mucosal melanoma of the nasal cavity.

INTRODUCTION AND IMPORTANCE: Primary malignant melanoma of the head and neck region is an exceptionally unique neoplasm that accounts for 1 % of all mucosal melanomas diagnosed worldwide. Most patients are either symptomless or have vague symptoms. CASE PRESENTATION: In this report, we describe the case of a young female, who presented at a tertiary care institute in Pakistan, with a history of recurrent ipsilateral mucosal neoplasm arising in the nasal cavity. The patient was treated with surgical resection twice and was subsequently found to have widespread metastatic lymph nodes on workup. CLINICAL DISCUSSION: Malignant mucosal melanoma seldom originates from the nasal cavity. Surgical resection is the best chance of cure for localized nasal melanomas whereas for metastatic disease, systemic therapy with either chemotherapy or biologic agents is the mainstay of management. CONCLUSION: Approximately 5 % of the cases of mucosal melanoma have metastatic disease at presentation. This report highlights the presentation, clinical characteristics, management, and prognosis of non-cutaneous melanoma, arising within the head and neck region.

Derivation of Candidate Clinical Decision Rules to Identify Infants at Risk for Central Apnea.

BACKGROUND AND OBJECTIVES: Central apnea complicates, and may be the presenting complaint in, bronchiolitis. Our objective was to prospectively derive candidate clinical decision rules (CDRs) to identify infants in the emergency department (ED) who are at risk for central apnea. METHODS: We conducted a prospective observational study over 8 years. The primary outcome was central apnea subsequent to the initial ED visit. Infants were enrolled if they presented with central apnea or bronchiolitis. We excluded infants with obstructive apnea, neonatal jaundice, trauma, or suspected sepsis. We developed 3 candidate CDRs by using 3 techniques: (1) Poisson regression clustered on the individual, (2) classification and regression tree analysis (CART), and (3) a random forest (RF). RESULTS: We analyzed 990 ED visits for 892 infants. Central apnea subsequently occurred in the hospital in 41 (5%) patients. Parental report of apnea, previous history of apnea, congenital heart disease, birth weight ≤2.5 kg, lower weight, and age ≤6 weeks all identified a group at high risk for subsequent central apnea. All CDRs and RFs were 100% sensitive (95% confidence interval [CI] 91%-100%) and had a negative predictive value of 100% (95% CI 99%-100%) for the subsequent apnea. Specificity ranged from 61% to 65% (95% CI 58%-68%) for CDRs based on Poisson models; 65% to 77% (95% CI 62%-90%) for CART; and 81% to 91% (95% CI 78%-92%) for RF models. CONCLUSIONS: All candidate CDRs had a negative predictive value of 100% for subsequent central apnea.