Seizure freedom improves health-related quality of life after epilepsy surgery in children.

AIM: To determine whether epilepsy surgery improved health-related quality of life (HRQoL) and whether seizure freedom after surgery mediated the improvement in HRQoL. METHOD: This multicenter cohort study compared HRQoL after epilepsy surgery to pharmacological management in children with drug-resistant epilepsy (DRE). HRQoL was measured using the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire at baseline and 1-year follow-up. The mediator between treatment type and HRQoL was seizure freedom. RESULTS: Two hundred and thirty-seven patients were recruited (surgery group: n=147 [92 males, 45 females]; pharmacological group: n=90 [53 males, 37 females]). Mean age at seizure onset was 6 years (SD 4y 4mo) in the surgical group and 6 years 1 month (SD 4y) in the pharmacological group. The odds ratio of seizure freedom was higher for the surgery versus pharmacological group (β=4.24 [95% confidence interval {CI}: 2.26-7.93], p INTERPRETATION: Greater seizure freedom achieved through epilepsy surgery mediated the improvement in HRQoL compared to pharmacological management in children with DRE. WHAT THIS PAPER ADDS: Seizure freedom is higher after pediatric epilepsy surgery compared to pharmacologically managed epilepsy. Surgery indirectly improves health-related quality of life (HRQoL) mediated by seizure freedom compared to pharmacological management. Surgery has a direct effect on improving social function relative to pharmacological management. Baseline HRQoL was an important predictor of HRQoL after treatment

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Systematic Review of Unmet Healthcare Needs in Patients With Epilepsy

OBJECTIVE: Patients with epilepsy (PWE) are more likely to have unmet healthcare needs than the general population. This systematic review assessed the reasons for unmet needs in PWE. METHODS: Medline, Embase, PsycINFO, Cochrane, and Web of Science databases were searched using keywords relating to unmet healthcare needs, treatment barriers, and access to care. The search included all countries, adult and pediatric populations, survey and qualitative studies, but excluded non-English articles and articles published before 2001. Reasons for unmet needs were extracted. RESULTS: Nineteen survey and 22 qualitative studies were included. Three survey and five qualitative studies excluded patients with comorbidities. There were twice as many studies on unmet mental healthcare needs than unmet physical care needs in PWE. Poor availability of health services, accessibility issues, and lack of health information contributed to unmet needs in both Western and developing countries. Lack of health services, long wait lists, uncoordinated care, and difficulty getting needed health information were prevalent in the United States (US) as well as countries with a universal healthcare system. However, unmet needs due to costs of care were reported more commonly in studies from the US. SIGNIFICANCE: This systematic review identified reasons for unmet needs in PWE across different countries, which will inform specific interventions required to address these unmet needs. Unmet needs may have been underestimated due to exclusion of PWE with comorbidities in some studies. Additional studies are needed to understand the contribution of comorbidities on unmet needs and their interaction with caregiver and family factors

Children with Congenital Hypothyroidism Have Similar Neuroradiological Abnormal Findings as Healthy Ones

Objective. To assess the neuroradiological findings of children with congenital hypothyroidism (CHT) compared to healthy controls (HC). Patients and Methods. Thirty children with CHT, mean age 12.5 ± 1.6 years, 14 (44.8%) males, were compared with 38 HC mean age 11.7 ± 1.7 years, 16 (45.7%) males. Clinical data were collected from medical charts and questionnaires seeking information on family history, birth and perinatal period events, medications, and overall health history. Neurocognitive function was assessed for global intelligence, visual and verbal memory, and executive functioning using standardized tests. Neuroimaging was performed using 1.5 T magnetic resonance imaging and assessed by two pediatric radiologists. Results. Children with CHT had a similar proportion of incidental findings as did the children in the HC group, at 43.3% and 39.5%, respectively, . Abnormalities of the sellar region were reported in 13.3% of CHT group and 7.9% of HC group, . Other incidental findings included cerebellar ectopia, choroidal fissure and pineal cysts, and multiple increased signal intensity foci. Neuroradiological findings were not associated with clinical and neurocognitive abnormalities. Conclusion. Neuroimaging of children with CHT demonstrated a similar incidence of structural abnormalities as in the healthy population. There is no association between those findings and neurocognitive function.Peer Reviewe

Early economic evaluation of MRI-guided laser interstitial thermal therapy (MRgLITT) and epilepsy surgery for mesial temporal lobe epilepsy.

BackgroundMRI-guided laser interstitial thermal therapy (MRgLITT) is a new minimally invasive treatment for temporal lobe epilepsy (TLE), with limited effectiveness data. It is unknown if the cost savings associated with shorter hospitalization could offset the high equipment cost of MRgLITT. We examined the cost-utility of MRgLITT versus surgery for TLE from healthcare payer perspective, and the value of additional research to inform policy decision on MRgLITT.MethodsWe developed a microsimulation model to evaluate quality adjusted life years (QALYs), costs, and incremental cost-effectiveness ratio (ICER) of MRgLITT versus surgery in TLE, assuming life-time horizon and 1.5% discount rate. Model inputs were derived from the literature. We conducted threshold and sensitivity analyses to examine parameter uncertainties, and expected value of partial perfect information analyses to evaluate the expected monetary benefit of eliminating uncertainty on probabilities associated with MRgLITT.ResultsMRgLITT yielded 0.08 more QALYs and cost $7,821 higher than surgery, with ICER of$94,350/QALY. Influential parameters that could change model outcomes include probabilities of becoming seizure-free from disabling seizures state and returning to disabling seizures from seizure-free state 5 years after surgery and MRgLITT, cost of MRgLITT disposable equipment, and utilities of disabling seizures and seizure-free states of surgery and MRgLITT. The cost-effectiveness acceptability curve showed surgery was preferred in more than 50% of iterations. The expected monetary benefit of eliminating uncertainty for probabilities associated with MRgLITT was higher than for utilities associated with MRgLITT.ConclusionsMRgLITT resulted in more QALYs gained and higher costs compared to surgery in the base-case. The model was sensitive to variations in the cost of MRgLITT disposable equipment. There is value in conducting more research to reduce uncertainty on the probabilities and utilities of MRgLITT, but priority should be given to research focusing on improving the precision of estimates on effectiveness of MRgLITT

Subcortical alterations in tissue microstructure adjacent to focal cortical dysplasia: Detection at diffusion-tensor MR imaging by using magnetoencephalographic dipole cluster localization

Purpose: To determine whether changes at diffusion-tensor magnetic resonance (MR) imaging were present in children with intractable epilepsy and focal cortical dysplasia (FCD) in (a) subcortical white matter subjacent to MR imaging–visible areas of FCD, (b) subcortical white matter beyond the MR imaging–visible abnormality but subjacent to a magnetoencephalographic (MEG) dipole cluster, and (c) deep white matter tracts. Materials and Methods: The study protocol had institutional research ethics board approval, and written informed consent was obtained. Fifteen children with FCD and intractable epilepsy (mean age, 11.6 years; range, 3.6–18.3 years) underwent diffusion-tensor MR imaging and MEG. Regions of interest were placed in (a) the subcortical white matter subjacent to the MR imaging–visible abnormality, as well as the contralateral side; (b) the subcortical white matter beyond the MR imaging–visible abnormality but subjacent to a MEG dipole cluster, as well as the contralateral side; and (c) deep white matter tracts projecting to or from the MR imaging–visible FCD, as well as the contralateral side. Fractional anisotropy (FA), mean diffusivity, and eigenvalues (λ1, λ2, λ3) were evaluated. Results: Eleven of 15 children had MEG dipole clusters, and four children had MEG scatter. There were significant differences in FA, mean diffusivity, λ2, and λ3 of the subcortical white matter subjacent to the MR imaging–visible FCD (P < .001 for all), as well as that beyond the MR imaging–visible FCD but subjacent to a MEG dipole cluster (P = .001, P = .036, P < .001, and P = .002, respectively), compared with the contralateral side. There were also significant differences in FA (P < .001), mean diffusivity (P = .008), λ2 (P < .001), and λ3 (P = .001) of the deep white matter tracts projecting to or from the MR imaging–visible FCD compared with the contralateral side. Conclusion: With use of MEG dipole clusters to localize the epileptogenic zone, diffusion-tensor imaging can help identify alterations in tissue microstructure beyond the MR imaging–visible FCD

sj-pdf-1-imr-10.1177_03000605231213231 - Supplemental material for Incidence and risk factors of post-stroke seizures and epilepsy: systematic review and meta-analysis

Supplemental material, sj-pdf-1-imr-10.1177_03000605231213231 for Incidence and risk factors of post-stroke seizures and epilepsy: systematic review and meta-analysis by Aathmika Nandan, Yi Mei Zhou, Lindsay Demoe, Adnan Waheed, Puneet Jain and Elysa Widjaja in Journal of International Medical Research</p