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Purpose: Rasmussen syndrome (RS) is marked by progressive unihemispheric atrophy, resulting in hemiparesis, refractory epilepsy, and cognitive/language decline. Detailed diagnostic and treatment algorithms are currently lacking. We aimed to survey medical providers on their current practices in the diagnosis and treatment of RS., Methods: A steering committee was formed to create the survey, which was disseminated to the international medical community. One hundred twelve surveys were completed. Descriptive statistics, as well as comparisons by level of experience, patient age group cared for, and geographic region using Fisher's exact test, were conducted., Results: Analysis of cerebrospinal fluid (82 %) and serum (78 %) for autoimmune encephalitis (AE) are completed by most, while approximately one-third obtain genetic and metabolic studies in all patients (36 % and 38 %, respectively). Providers in US and Europe more readily pursue serum AE antibody panels (85 % and 85 %, respectively, versus 67 %, p = 0.019) and genetic testing (56 % and 47 %, respectively, versus 14 %, p < 0.001) than the rest of the world. Thirty-six percent proceed to biopsy in patients otherwise meeting diagnostic criteria, and US providers are more likely to suggest this than others (73 % versus 14-41 %, p < 0.001). Opinions differed on the prioritization of hemispherectomy/hemispherotomy versus immunotherapy in 14 clinical scenarios with various neurologic deficit severity provided. Preferred immunotherapy regimens also varied, with US providers more often choosing IVIG as first-line (67 %) compared to others (28 %-32 %, p = 0.030). Surgical standard of care was identified as functional hemispherectomy or hemispherotomy by 90 %., Conclusion: The survey highlights trends but also significant variations in clinical practice that can serve as targets for future research and expert consensus guidelines., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Suresh Pujar has received honoraria for serving on advisory board for UCB, and speaker's fees from UCB and Danone. Coral M. Stredny receives grant support from the Pediatric Epilepsy Research Foundation. She is an unpaid member of the medical and scientific advisory boards of the Autoimmune Encephalitis Alliance and NORSE Institute. Claude Steriade receives institutional salary support from The Epilepsy Study Consortium, on behalf of Alterity, Cerebral, Cerevel, Eliem, Equilibre, Janssen, Longboard, Marinus, Neurocrine, Neuroelectrics, Receptor, SK Life Sciences, Supernus, UCB, and Xenon, serves as an Editor for Dynamed, receives grants from NINDS, Parekh Institute for Interdisciplinary Neurology, NORD, and UCB, has served as an Expert Witness for the DOJ, has received compensation for speakers bureau for SK Life Sciences and consulted for Epitel Inc. and Jazz Pharmaceuticals. Ronny Wickström has received honoraria for serving on advisory boards for Jazz Pharmaceuticals, GW Pharma and Octapharma and speaker's fees from EISAI, UCB, Sobi, Jazz Pharmaceuticals and Sanofi-Genzyme. Medical treatments discussed represent off-label uses., (Copyright © 2024. Published by Elsevier Ltd.)

Objective: The authors assessed the safety and accuracy of stereoelectroencephalography (SEEG) electrode implantation in pediatric patients who had previously undergone craniotomy compared to those without prior cranial surgery., Methods: The authors performed a retrospective analysis of patients under 25 years of age with medically refractory epilepsy at a single institution who underwent SEEG electrode placement between March 2016 and July 2023. Surgical history and demographic characteristics were collected from the electronic medical records. The coordinates of the anchor bolts and their respective SEEG electrode contacts were manually annotated using postoperative head CT scans. Bolt coordinates were used to calculate the initiated electrode trajectory set by the bolt by using the least-squares method to define a line along the bolt, projected along the length of the electrode. The shortest distance from each electrode contact to this line was calculated to obtain the error measurement. Statistical analysis was conducted using the Kolmogorov-Smirnov test to compare the distribution of errors between groups, the Student t-test was used for continuous variables, and the chi-square/Fisher's exact test was used for categorical variables., Results: Fifty-eight patients underwent a total of 60 SEEG placements and met the inclusion criteria. Eighteen had a history of prior craniotomy and 40 without prior surgery, indicating entirely native cranial bone. Mean age, sex, and mean number of electrodes implanted per surgery were similar between groups. For the electrode contact furthest from the bolt, a mean (IQR) deviation of 1.32 (0.73-2.53) mm was noted for the prior craniotomy group and 1.08 (0.65-1.55) mm for the native bone group (p < 0.0001). A greater number of outliers for the contact furthest from the bolt, defined as > 6 mm from the initiated electrode trajectory, was seen in the prior craniotomy group (p < 0.0001). The complication rate was low and not statistically different between groups., Conclusions: The authors' analysis draws attention to the effect of the intracranial biomechanical environment along the path of the electrode after traversing past the anchor bolt and found that prior craniotomy was associated with a higher number of contacts with a significant deviation from the initiated trajectory. Despite these deviations, we did not find a difference in the overall low complication rate in both groups. Therefore, the authors conclude that SEEG electrode placement is a safe option in pediatric patients even after prior craniotomy.

Purpose: Rasmussen encephalitis (RE) is a very rare chronic neurological disorder of unilateral inflammation of the cerebral cortex. Hemispherotomy provides the best chance at achieving seizure freedom in RE patients, but with significant risks and variable long-term outcomes. The goal of this study is to utilize our multicenter pediatric cohort to characterize if differences in pathology and/or imaging characterization of RE may provide a window into post-operative seizure outcomes, which in turn could guide decision-making for parents and healthcare providers., Methods: This multi-institutional retrospective review of medical record, imaging, and pathology samples was approved by each individual institution's review board. Data was collected from all known pediatric cases of peri-insular functional hemispherotomy from the earliest available electronic medical records. Mean follow-up time was 4.9 years. Clinical outcomes were measured by last follow-up visit using both Engel and ILAE scoring systems. Relationships between categorical and continuous variables were analyzed with Pearson correlation values., Results: Twenty-seven patients met study criteria. No statistically significant correlations existed between patient imaging and pathology data. Pathology stage, MRI brain imaging stages, and a combined assessment of pathology and imaging stages showed no statistically significant correlation to post-operative seizure freedom rates. Hemispherectomy Outcome Prediction Scale scoring demonstrated seizure freedom in only 71% of patients receiving a score of 1 and 36% of patients receiving a score of 2 which were substantially lower than predicted., Conclusions: Our analysis did not find evidence for either independent or combined analysis of imaging and pathology staging being predictive for post peri-insular hemispherotomy seizure outcomes, prompting the need for other biomarkers to be explored. Our data stands in contrast to the recently proposed Hemispherectomy Outcome Prediction Scale and does not externally validate this metric for an RE cohort., (© 2024. The Author(s).)

Objective: Corpus callosotomy (CC) is a palliative surgical intervention for patients with medically refractory epilepsy that has evolved in recent years to include a less-invasive alternative with the use of laser interstitial thermal therapy (LITT). LITT works by heating a stereotactically placed laser fiber to ablative temperatures under real-time magnetic resonance imaging (MRI) thermometry. This study aims to (1) describe the surgical outcomes of CC in a large cohort of children with medically refractory epilepsy, (2) compare anterior and complete CC, and (3) review LITT as a surgical alternative to open craniotomy for CC., Methods: This retrospective cohort study included 103 patients <21 years of age with at least 1 year follow-up at a single institution between 2003 and 2021. Surgical outcomes and the comparative effectiveness of anterior vs complete and open versus LITT surgical approaches were assessed., Results: CC was the most common surgical disconnection (65%, n = 67) followed by anterior two-thirds (35%, n = 36), with a portion proceeding to posterior completion (28%, n = 10). The overall surgical complication rate was 6% (n = 6/103). Open craniotomy was the most common approach (87%, n = 90), with LITT used increasingly in recent years (13%, n = 13). Compared to open, LITT had shorter hospital stay (3 days [interquartile range (IQR) 2-5] vs 5 days [IQR 3-7]; p < .05). Modified Engel class I, II, III, and IV outcomes at last follow-up were 19.8% (n = 17/86), 19.8% (n = 17/86), 40.2% (n = 35/86), and 19.8% (n = 17/86). Of the 70 patients with preoperative drop seizures, 75% resolved postoperatively (n = 52/69)., Significance: No significant differences in seizure outcome between patients who underwent only anterior CC and complete CC were observed. LITT is a less-invasive surgical alternative to open craniotomy for CC, associated with similar seizure outcomes, lower blood loss, shorter hospital stays, and lower complication rates, but with longer operative times, when compared with the open craniotomy approach., (© 2023 International League Against Epilepsy.)

Objective: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), is a severe pediatric disorder of uncertain etiology resulting in hypothalamic dysfunction and frequent sudden death. Frequent co-occurrence of neuroblastic tumors have fueled suspicion of an autoimmune paraneoplastic neurological syndrome (PNS); however, specific anti-neural autoantibodies, a hallmark of PNS, have not been identified. Our objective is to determine if an autoimmune paraneoplastic etiology underlies ROHHAD., Methods: Immunoglobulin G (IgG) from pediatric ROHHAD patients (n = 9), non-inflammatory individuals (n = 100) and relevant pediatric controls (n = 25) was screened using a programmable phage display of the human peptidome (PhIP-Seq). Putative ROHHAD-specific autoantibodies were orthogonally validated using radioactive ligand binding and cell-based assays. Expression of autoantibody targets in ROHHAD tumor and healthy brain tissue was assessed with immunohistochemistry and mass spectrometry, respectively., Results: Autoantibodies to ZSCAN1 were detected in ROHHAD patients by PhIP-Seq and orthogonally validated in 7/9 ROHHAD patients and 0/125 controls using radioactive ligand binding and cell-based assays. Expression of ZSCAN1 in ROHHAD tumor and healthy human brain tissue was confirmed., Interpretation: Our results support the notion that tumor-associated ROHHAD syndrome is a pediatric PNS, potentially initiated by an immune response to peripheral neuroblastic tumor. ZSCAN1 autoantibodies may aid in earlier, accurate diagnosis of ROHHAD syndrome, thus providing a means toward early detection and treatment. This work warrants follow-up studies to test sensitivity and specificity of a novel diagnostic test. Last, given the absence of the ZSCAN1 gene in rodents, our study highlights the value of human-based approaches for detecting novel PNS subtypes. ANN NEUROL 2022;92:279-291., (© 2022 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

We have developed eight high-quality microsatellite DNA loci for the saltmarsh sharp-tailed sparrow and one additional locus with evidence of null alleles. In a sample of 250-350 individuals, the average number of alleles per locus was 14.7 and average observed heterozygosity was 0.80. These loci were tested in three additional species of emberizid sparrows, indicating that more than half of the loci could be useful in other sparrows., (© 2007 The Authors.)