Lennox-Gastaut Syndrome (LGS) is a rare type of childhood epilepsy diagnosed in 3-5% of children with epilepsy, characterized by evolving symptoms and no known cure. Families of these patients face unique challenges in obtaining a diagnosis. We sought to characterize the caregiver-reported diagnostic pathways, timing, and challenges in obtaining a LGS diagnosis. A survey was developed to investigate the LGS diagnosis journey. Respondents were caregivers recruited during the LGS Foundation 9th International Family & Professional Conference (July 2024) and on the LGS Foundation's private Facebook page. Respondents represent a level of connectivity and resource access limiting generalizability to the broader caregiver population. Forty-three responses were collected. Most caregivers learned about their loved one's diagnosis from their epileptologist (44 %) or neurologist (42 %). The time between suspected diagnosis and formal diagnosis varied: within a month (7 %, n = 3), one month to one year (19 %, n = 8), one year to 5 years (30 %, n = 13), more than five years (28 %, n = 12). Twenty-two (44 %) participants indicated no resources were shared at the time of formal diagnosis. Caregivers identified three topics: 1) comprehensive information is needed at diagnosis; 2) caregivers educated themselves about LGS; 3) providers may have limited knowledge about LGS. The clinical complexities of LGS, few physicians treating rare epilepsy diseases, and inadequate resources hinder timely diagnosis and effective treatment. Caregivers experienced delays in diagnosis, communication gaps, and limited access to resources; each serving as key areas for improving clinical practices and patient centered care.

Pediatric neurovascular disease are chronic conditions affecting the neurovasculature. Prior research on chronic neurological conditions have demonstrated high direct and indirect costs, however the indirect costs for pediatric neurovascular diseases have not been quantified. This pilot study aims to quantify the economic and family impact of these conditions. Parents of children who had neurovascular surgery at our institution (2022-2023) completed the Impact on Family Survey (IOFS) and the Work Productivity and Activity Impairment - General Health (WPAI-GH). IOFS scores were evaluated across five domains (financial, social, personal, coping, and sibling impact). WPAI-GH data were used to calculate presenteeism, absenteeism. Lost productivity costs were calculated using the human capital method. 6 parents were included. 75 % (4 of 6) reported that their child had emergency surgery. Mean time since surgery was 17.22 ± 5.2 months. The low average IOFS score indicated that families were largely impacted by neurovascular surgery. Of the five subcategories, participants coping was most impacted and siblings were the least impacted. Among employed caregivers, mean absenteeism was 5.97 % and presenteeism was 26.7 %. In terms of caregiving work-related productivity costs, $1488.80 were lost per month, $267.20 due to absenteeism and $1221.50 due to presenteeism. Annual total productivity costs were $17,865.80. Pediatric neurovascular disease has long-lasting impacts on caregivers and family life across multiple dimensions. While presenteeism results in high indirect costs, further research is needed to quantify and validate the impact on work productivity and family impact.

About 3,000 individuals in the United States are born with spina bifida each year. Prenatal surgery for open spina bifida has demonstrated improved neurological and functional outcomes compared to postnatal closure. However, open maternal fetal surgery is associated with increased obstetric complications, such as uterine ruptures and need for cesarean deliveries in the current and any subsequent pregnancies. Minimally invasive fetoscopic approaches were subsequently developed to decrease maternal morbidity from large hysterotomies while preserving the fetal benefits of prenatal repair. Single and 2-layer fetoscopic closure techniques have been described, but concerns remain regarding the ability to achieve water-tight closure via minimally invasive approaches. Water-tight closure is critical for preventing postoperative complications, particularly cerebrospinal fluid (CSF) leakage and wound dehiscence. This report describes a novel 3-port, 3-layer fetoscopic repair technique. The accompanying video demonstrates the technique and procedural steps in detail. This method may facilitate higher rates of water-tight dural closure via the fetoscopic approach, potentially reducing postoperative complications.

Background: Congenital anomalies impact 52 million infants worldwide with an estimated 94% living in low- and middle-income countries (LMICs). Approximately 200,000 children are born with a neural tube defect (NTD) in LMICs annually. Zambia is an LMIC with a high burden of myelomeningocele (MMC; a severe form of NTD). This study sought to characterize the barriers influencing access to healthcare for children born with MMC in Zambia. Methods: Two cross-sectional surveys were administered to healthcare providers at referring public health facilities and mothers of infants born with MMC undergoing surgical closure. The survey among mothers was nested in a longitudinal study evaluating surgical closure in Lusaka, Zambia from 28 May 2024 to 21 January 2025. Results: Sixty-nine mother–MMC baby dyads and 123 providers from 21 facilities were enrolled in the study. The median age at presentation for MMC was 7.5 (range 0–244) days old. Most patients were referred from rural district hospitals (51%; n = 35) and travelled greater than 250 km to access care (80%; n = 55). Seventy-seven percent (n = 53) of mothers reported receiving at least one antenatal ultrasound, with 62% (n = 43) undergoing an ultrasound after 20 weeks estimated gestational age. Of these, only 3% (n = 2) received an MMC diagnosis prior to delivery. Referring patients with MMC for further care greater than six hours after birth was reported by 59% providers (n = 73). Hospitals further away from the tertiary center were more likely to report late referrals (p < 0.001). Conclusions: There is a delay in the diagnosis and referral of infants with MMC to specialized care in Zambia, which may be attributed to inadequate in utero diagnosis capabilities and distance from the tertiary facility. Improving the accuracy of prenatal diagnosis and strengthening referral pathways to facilitate access to care among infants with MMC in Zambia are important for improving incidence and outcomes.

BACKGROUND AND OBJECTIVES: Of 50 million people with epilepsy globally, up to 10 million with lesional drug resistance epilepsy may be able to achieve seizure control with surgical options. Although multidisciplinary surgical care for epilepsy is available in high-income countries, few programs exist in low- and middle-income countries (LMICs). In 2019, a global collaboration between CURE Uganda and Ann & Robert H. Lurie Children's Hospital in the United States established a surgical epilepsy program in Uganda for the pediatric population. This study identifies key pillars for sustainable neurosurgical program development in LMICs. METHODS: Interdisciplinary health care providers from CURE and Lurie Children's who participated in the development of the surgical epilepsy program from 2019 to 2024 underwent semistructured qualitative interviews. A thematic analysis framework was used to identify themes from interviews related to program development, sustainability, and targets for future work. RESULTS: Nine participants were interviewed, with representation from roles of pediatric neurologist, pediatric neuroradiologist, electroencephalogram technologists, medical officer, and pediatric neurosurgeon. Thematic analysis revealed 4 themes (with subthemes) related to sustainable global surgical program development: (1) Intentional planning (integrating global policies into program development, rigorous case selection for great outcomes to build confidence for public/administrative support, defining barriers and optimizing solutions); (2) interdisciplinary collaboration (communication and trust are vital, new initiatives may require sacrifice, true partnerships allow for bidirectional learning, creative problem solving is crucial); (3) skill transfer and education (on-the-ground skill transfer needed, technology integration facilitates continuous learning, enable development opportunities for teammates); and (4) targets for future work (public education, expanding clinical capacity in LMICs, sustainable education centers, research dissemination). CONCLUSION: Global collaborations create opportunities to increase access to neurosurgical care. Creating interdisciplinary programs across borders requires trust and open communication by all members. Sustainable programs can be further enabled with intentional planning, humility, and bidirectional skill transfer.