Measures of Health-Related Quality of Life Outcomes in Pediatric Neurosurgery: Literature Review

Background Improving value in healthcare means optimizing outcomes and minimizing costs. The emerging pay-for-performance era requires understanding of the effect of healthcare services on health-related quality of life (HRQoL). Pediatric and surgical subspecialties have yet to fully integrate HRQoL measures into practice. The present study reviewed and characterized the HRQoL outcome measures across various pediatric neurosurgical diagnoses. Methods A literature review was performed by searching PubMed and Google Scholar with search terms such as “health-related quality of life” and “pediatric neurosurgery” and then including the specific pathologies for which a HRQoL instrument was found (e.g., “health-related quality of life” plus “epilepsy”). Each measurement was evaluated by content and purpose, relative strengths and weaknesses, and validity. Results We reviewed 68 reports. Epilepsy, brain tumor, cerebral palsy, spina bifida, hydrocephalus, and scoliosis were diagnoses found in reported studies that had used disease-specific HRQoL instruments. Information using general HRQoL instruments was also reported. Internal, test–retest, and/or interrater reliability varied across the instruments, as did face, content, concurrent, and/or construct validity. Few instruments were tested enough for robust reliability and validity. Significant variability was found in the usage of these instruments in clinical studies within pediatric neurosurgery. Conclusions The HRQoL instruments used in pediatric neurosurgery are currently without standardized guidelines and thus exhibit high variability in use. Clinicians should support the development and application of these methods to optimize these instruments, promote standardization of research, improve performance measures to reflect clinically modifiable and meaningful outcomes, and, ultimately, lead the national discussion in healthcare quality and patient-centered care

A Novel null homozygous mutation confirms <i>CACNA2D2</i> as a gene mutated in epileptic encephalopathy

Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In the same family, a rare CELSR3 polymorphism also segregated with disease. Involvement of CACNA2D2 in EE is therefore not confirmed, while that of CELSR3 is questionable. In a patient with epilepsy, dyskinesia, cerebellar atrophy, psychomotor delay and dysmorphic features, offspring to consanguineous parents, we performed whole exome sequencing (WES) for homozygosity mapping and mutation detection. WES identified extended autozygosity on chromosome 3, containing two novel homozygous candidate mutations: c.1295delA (p.Asn432fs) in CACNA2D2 and c.G6407A (p.Gly2136Asp) in CELSR3. Gene prioritization pointed to CACNA2D2 as the most prominent candidate gene. The WES finding in CACNA2D2 resulted to be statistically significant (p = 0.032), unlike that in CELSR3. CACNA2D2 homozygous c.1295delA essentially abolished α2δ-2 expression. In summary, we identified a novel null CACNA2D2 mutation associated to a clinical phenotype strikingly similar to the Cacna2d2 null mouse model. Molecular and statistical analyses together argued in favor of a causal contribution of CACNA2D2 mutations to EE, while suggested that finding in CELSR3, although potentially damaging, is likely incidental

Getting the best outcomes from epilepsy surgery.

Neurosurgery is an underutilized treatment that can potentially cure drug-refractory epilepsy. Careful, multidisciplinary presurgical evaluation is vital for selecting patients and to ensure optimal outcomes. Advances in neuroimaging have improved diagnosis and guided surgical intervention. Invasive electroencephalography allows the evaluation of complex patients who would otherwise not be candidates for neurosurgery. We review the current state of the assessment and selection of patients and consider established and novel surgical procedures and associated outcome data. We aim to dispel myths that may inhibit physicians from referring and patients from considering neurosurgical intervention for drug-refractory focal epilepsies. Ann Neurol 2018;83:676-690

Crossed Aphasia in a Patient with Anaplastic Astrocytoma of the Non-Dominant Hemisphere

Aphasia describes a spectrum of speech impairments due to damage in the language centers of the brain. Insult to the inferior frontal gyrus of the dominant cerebral hemisphere results in Broca\u27s aphasia - the inability to produce fluent speech. The left cerebral hemisphere has historically been considered the dominant side, a characteristic long presumed to be related to a person\u27s handedness . However, recent studies utilizing fMRI have shown that right hemispheric dominance occurs more frequently than previously proposed and despite a person\u27s handedness. Here we present a case of a right-handed patient with Broca\u27s aphasia caused by a right-sided brain tumor. This is significant not only because the occurrence of aphasia in right-handed-individuals with right hemispheric brain damage (so-called crossed aphasia ) is unusual but also because such findings support dissociation between hemispheric linguistic dominance and handedness. © 2017, EduRad. All rights reserved

Comparison of smoothing filters in analysis of EEG data for the medical diagnostics purposes

This paper covers a brief review of both the advantages and disadvantages of the implementation of various smoothing filters in the analysis of electroencephalography (EEG) data for the purpose of potential medical diagnostics. The EEG data are very prone to the occurrence of various internal and external artifacts and signal distortions. In this paper, three types of smoothing filters were compared: smooth filter, median filter and Savitzky-Golay filter. The authors of this paper compared those filters and proved their usefulness, as they made the analyzed data more legible for diagnostic purposes. The obtained results were promising, however, the studies on finding perfect filtering methods are still in progress.Web of Science203art. no. 80