Epilepsy research and treatment最新文献

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumor growth and neuropsychological symptoms such as autistic behavior, developmental delay, and epilepsy. While research has shed light on the biochemical and genetic etiology of TSC, the pathogenesis of the neurologic and behavioral manifestations remains poorly understood. TSC patients have a greatly increased risk of developmental delay and autism spectrum disorder, rendering the relationship between the two sets of symptoms an extremely pertinent issue for clinicians. We have expanded on previous observations of aberrant vocalizations in Tsc2 (+/-) mice by testing vocalization output and developmental milestones systematically during the early postnatal period. In this study, we have demonstrated that Tsc2 haploinsufficiency in either dams or their pups results in a pattern of developmental delay in sensorimotor milestones and ultrasonic vocalizations.

Objective. Children with epilepsy are at risk for less than optimum long-term outcomes. The type and severity of their epilepsy may contribute to educational, psychological, and social outcomes. The objective of this study was to determine the relation between somatization and adaptive skills based on seizure type that could impact on those outcomes. Methods. This study examined adaptive functioning and somatization in 87 children with epilepsy using archival data from a tertiary care facility. Results. No significant differences in adaptive skills emerged between groups of children diagnosed with complex partial (CP) as compared to CP-secondary generalized (SG) seizures; however, deficits in adaptive behavior were found for both groups. The number of medications, possibly reflecting the severity of the epilepsy, was highly correlated to adaptive function. Conclusions. Identification of deficits in adaptive behavior may represent an opportunity for tailored prevention and intervention programming for children with epilepsy. Addressing functional deficits may lead to improved outcomes for these children.

Objective. To report our institutional seizure and neuropsychological outcomes for a series of patients with mesial temporal lobe epilepsy (mTLE) undergoing anterior temporal lobectomy (ATL) or selective amygdalohippocampectomy (SelAH) between 2004 and 2011. Methods. A retrospective study of patients with mTLE was conducted. Seizure outcome was reported using time-to-event analysis. Cognitive outcome was reported using the change principal in component factor scores, one each, for intellectual abilities, visuospatial memory, and verbal memory. The Boston Naming Test was used for naming assessment. Language dominant and nondominant resections were compared separately. Student's t-test was used to assess statistical significance. Results. Ninety-six patients (75 ATL, 21 SelAH) were included; fifty-four had complete neuropsychological follow-up. Median follow-up was 40.5 months. There was no statistically significant difference in seizure freedom or any of the neuropsychological outcomes, although there was a trend toward greater postoperative decline in naming in the dominant hemisphere group following ATL. Conclusion. Seizure and neuropsychological outcomes did not differ for the two surgical approaches which is similar to most prior studies. Given the theoretical possibility of SelAH sparing language function in patients with epilepsy secondary to mesial temporal sclerosis and the limited high-quality evidence creating equipoise, a multicenter randomized clinical trial is warranted.

The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed.

The family plays a significant role in epilepsy management in sub-Saharan Africa and how this role is perceived by persons with epilepsy could influence epilepsy outcomes. The objective of the study was to assess perception of family function by adolescents with epilepsy (AWE). The sociodemographic and epilepsy characteristics of AWE in a rural Nigerian community were assessed and the Family APGAR tool was used in assessing their perception of satisfaction with family functioning. Adolescents (n = 1708) constituted 26% of the community's population and 18 (10.5/1000) had epilepsy. The AWE age range was 11-19 years (mean 16.7 ± 2.6 years) with a male preponderance (15, 83.3%). The family was the only source of care. Family dysfunction (Family APGAR Score <7) was indicated by 15 (83.3%) of the AWE. The strongest perception of family function was in adaptability while the weakest was with growth. The indication of family dysfunction was significant (P<0.05) in the older (age 14-19 years) AWE when compared with the younger AWE (11-13 years) in the study. Most of the AWE indicated living in a dysfunctional family setting. The study highlights the need to address the role of the family in the provision of comprehensive epilepsy care.

Sequence matching analyses show that Clostridium tetani neurotoxin shares numerous pentapeptides (68, including multiple occurrences) with 42 human proteins that, when altered, have been associated with epilepsy. Such a peptide sharing is higher than expected, nonstochastic, and involves tetanus toxin-derived epitopes that have been validated as immunopositive in the human host. Of note, an unexpected high level of peptide matching is found in mitogen-activated protein kinase 10 (MK10), a protein selectively expressed in hippocampal areas. On the whole, the data indicate a potential for cross-reactivity between the neurotoxin and specific epilepsy-associated proteins and may help evaluate the potential risk for epilepsy following immune responses induced by tetanus infection. Moreover, this study may contribute to clarifying the etiopathogenesis of the different types of epilepsy.

Objectives. The incidence of convulsive status epilepticus (CSE) is high in Africa but the long-term outcome is unknown. We examined the neurocognitive outcome and survival of children treated for CSE in a Kenyan hospital 3 to 4 years after discharge. Methods. The frequency and nature of neurological deficits among this group of children were determined and compared to a control group. The children were screened with the Ten Questions Questionnaire for neurodevelopmental impairment if alive and those that screened positive were invited for further assessment to determine the pattern and extent of their impairment. A verbal autopsy was performed to determine the cause of death in those that died. Results. In the 119 cases followed-up, 9 (8%) died after discharge, with the majority having seizures during their fatal illness. The 110 survivors (median age 5 years) had significantly more neurological impairments on the screening compared to 282 controls (34/110 (30.9%) versus 11/282 (3.9%), OR = 11.0, 95% CI 5.3-22.8). Fifteen percent of the cases had active epilepsy. Conclusions. This study demonstrates the considerable burden of CSE in African children. Strategies to manage children with CSE that are acceptable to the community need to be explored to improve the longer-term outcome.

Aim. Caregiver burden (CB) in epilepsy constitutes an understudied area. Here we attempt to identify the magnitude of this burden, the factors associated with it, and its impact to caregiver quality of life (QOL). Methods. 48 persons with epilepsy (PWE) underwent video-EEG monitoring and their caregivers completed questionnaires providing demographic, disease-related, psychiatric, cognitive, sleep, QOL, and burden information. Results. On regression analysis, higher number of antiepileptic drugs, poorer patient neuropsychological performance, lower patient QOL score, and lower caregiver education level were associated with higher CB. Time allocated to patient care approximated but did not attain statistical significance. A moderate inverse correlation between CB and caregiver QOL physical component summary score and a stronger inverse correlation between CB and caregiver QOL mental component summary score were seen. Conclusion. In a selected cohort of PWE undergoing video-EEG monitoring, we identified modest degree of CB, comparable to that reported in the literature for other chronic neurological conditions. It is associated with specific patient and caregiver characteristics and has a negative effect on caregiver QOL.

The modified Atkins diet is a less restrictive variation of the ketogenic diet. This diet is started on an outpatient basis without a fast, allows unlimited protein and fat, and does not restrict calories or fluids. Recent studies have shown good efficacy and tolerability of this diet in refractory epilepsy. In this review, we discuss the use of the modified Atkins diet in refractory epilepsy.

Object. It is widely accepted that temporal resective surgery represents an efficacious treatment option for patients with epilepsy of temporal origin. The meticulous knowledge of the potential complications, associated with temporal resective procedures, is of paramount importance. In our current study, we attempt to review the pertinent literature for summating the complications of temporal resective procedures for epilepsy. Method. A PubMed search was performed with the following terms: "behavioral," "cognitive," "complication," "deficit," "disorder," "epilepsy," "hemianopia," "hemianopsia," "hemorrhage," "lobectomy," "medial," "memory," "mesial," "neurobehavioral," "neurocognitive," "neuropsychological," "psychological," "psychiatric," "quadranopia," "quadranopsia," "resective," "side effect," "surgery," "temporal," "temporal lobe," and "visual field." Results. There were six pediatric, three mixed-population, and eleven adult surgical series examining the incidence rates of procedure-related complications. The reported mortality rates varied between 0% and 3.5%, although the vast majority of the published series reported no mortality. The cumulative morbidity rates ranged between 3.2% and 88%. Conclusions. Temporal resective surgery for epilepsy is a safe treatment modality. The reported morbidity rates demonstrate a wide variation. Accurate detection and frank reporting of any surgical, neurological, cognitive, and/or psychological complications are of paramount importance for maximizing the safety and improving the patients' overall outcome.