Background 22q11.2 Microdeletion syndrome (22q11DS) is associated with elevated rates of autism spectrum disorders (ASDs), although the diagnosis is controversial. In order to determine whether there is a biological substrate of ASD in 22q11DS, we examined neurocognitive and structural neuroanatomic differences between those with 22q11DS and an ASD diagnosis (22q11DS-ASD+) and those with 22q11DS without ASD (22q11DS-ASD−); we then determined whether these differences were better characterized within a categorical or dimensional framework. Methods We collected multiple neurocognitive measures and high-resolution T1-weighted scans on 116 individuals (29 22q11DS-ASD+, 32 22q11DS-ASD−, 55 typically developing controls) between 6 and 26 years of age. Measures of subcortical volume, cortical thickness (CT), and surface area were extracted using the FreeSurfer image analysis suite. Group differences in neurocognitive and neuroanatomic measures were assessed; regression analyses were then performed to determine whether a categorical or dimensional measure of ASD was a better predictor of neurocognitive impairment and/or neuroanatomic abnormalities observed in 22q11DS-ASD+. Results In comparison to 22q11DS-ASD−, 22q11DS-ASD+ participants exhibited decreased bilateral hippocampal CT and decreased right amygdala volumes. Those with 22q11DS-ASD+ also showed slowed processing speed and impairments in visuospatial and facial memory. Neurocognitive impairments fit a dimensional model of ASD, whereas reductions in parahippocampal CT were best explained by a categorical measure of ASD. Conclusions A combination of categorical and dimensional measures of ASD may provide the most comprehensive understanding of ASDs in 22q11DS.

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Objectives To characterize clinical factors associated with esthesioneuroblastoma treatment delays and determine the impact of these delays on overall survival. Study Design Retrospective database analysis. Methods The 2004–2016 National Cancer Database was queried for patients with esthesioneuroblastoma managed by primary surgery and adjuvant radiation. Durations of diagnosis‐to‐treatment initiation (DTI), diagnosis‐to‐treatment end (DTE), surgery‐to‐RT initiation (SRT), radiotherapy treatment (RTD), and total treatment package (TTP) were analyzed. The cohort was split into two groups for each delay interval using the median time as the threshold. Results A total of 814 patients (39.6% female, 88.5% white) with mean ± SD age of 52.6 ± 15.1 years who underwent both esthesioneuroblastoma surgery and adjuvant radiotherapy were queried. Median DTI, DTE, SRT, RTD, and TTP were 34, 140, 55, 45, and 101 days, respectively. A significant association was identified between increased regional radiation dose above 66 Gy and decreased DTI (OR = 0.54, 95% CI 0.35–0.83, p = 0.01) and increased RTD (OR = 3.94, 95% CI 2.36–6.58, p < 0.001) durations. Chemotherapy administration was linked with decreased SRT (OR = 0.64, 95% CI 0.47–0.89, p = 0.01) and TTP (OR = 0.59, 95% CI 0.43–0.82, p = 0.001) durations. Cox proportional‐hazards analysis revealed that increased RTD was associated with decreased survival (HR = 1.80, 95% CI 1.26–2.57, p < 0.005), independent of age, sex, race, regional radiation dose, facility volume, facility type, insurance status, modified Kadish stage, chemotherapy status, Charlson‐Deyo comorbidity index, and surgical margins. Conclusions Delays during, and prolongation of radiotherapy for esthesioneuroblastoma appears to be associated with decreased survival. Level of Evidence 4 Laryngoscope, 133:764–772, 2023

Objective: To better understand the humanistic and economic burden of focal seizures in children 2-12 years old. Methods: We conducted a targeted literature review by searching MEDLINE for English-language publications reporting on children 2-12 years old with focal seizures published in the United States since 2008. Results: Thirty-five publications were included. Incidence of focal seizures was 23.2 to 47.1 per 100,000 children per year; prevalence was 2.0 per 1,000 children, and ranged from 1.6 - 2.6 per 1,000 in patients of any age. Life expectancy was 47.3-61.8 years among children 3-12 years old. Patients took several antiepileptic drugs and experienced frequent seizures, sleep disorders, mood disorders, migraine, and seizure-related injuries (eg, bone fractures, sprains, open wounds). Children with focal seizures scored below average on cognitive assessments and up to 42%, 16%, and 19% had depression, anxiety, and attention-deficit disorder, respectively. Patients of any age had about 10 outpatient visits (2 epilepsy-related), 2 inpatient visits (less than 1 epilepsy-related), and 24 procedures (1 epilepsy-related) per year. Medication adherence was low: only half of pediatric patients maintained ≥90% adherence over 6 months. Annual total health care costs among patients of any age ranged from $18,369 - 38,549; first-year total health care costs for children were $19,883. Conclusions: Incidence and prevalence of focal seizures is high and the humanistic and economic burdens are significant. Future studies focused exclusively on children with focal seizures are needed to more precisely describe the burden. We also suggest further research and implementation of methods to improve medication adherence as an approach to lessen burden on these young patients.