Attitudes toward driver's licenses for people with epilepsy: 2012 versus 2014.

BACKGROUND: We compared knowledge about and attitudes toward epilepsy and the issuing of driver's licenses to people with epilepsy among non-medical students before and after media controversies. METHODS: The survey was performed in 2012 and 2014 using a structured questionnaire. Participants were non-medical students who attended a lecture on neurological diseases in children. The proportion of positive answers to each question in 2012 was compared with that in 2014. In addition, questions regarding attitudes toward driver's licenses were compared according to knowledge about car accidents linked to people with epilepsy. RESULTS: More participants were familiar with epilepsy and had a favorable attitude toward epilepsy in 2014 than in 2012. In contrast, the proportion of participants who knew of car accidents linked to people with epilepsy was reduced in 2014 compared with 2012. The proportion of participants who did not think that severe punishment should be given to people with epilepsy if they caused a car accident decreased in 2014 among those without knowledge of car accidents. CONCLUSIONS: Familiarity with and attitudes toward epilepsy were improved in 2014, whereas the decrease in proportion of positive answers on punishment among participants unfamiliar with car accidents suggests a latent worsening of public attitudes.

Worsening of attitudes toward epilepsy following less influential media coverage of epilepsy-related car accidents: An infodemiological approach.

To evaluate changes in the attitudes of nonmedical university students toward epilepsy in 2015, the present study compared the results of questionnaire surveys from four different time periods: before media coverage of epilepsy-related car accidents (2008-2010), during a period of abundant media coverage (2011-2012), after media coverage (2013-2014), and after novel media coverage (2015). The nonmedical students that completed the questionnaire were divided into four groups: 2008-2010, 2011-2012, 2013-2014, and 2015. The rates of students that had read or heard about epilepsy decreased significantly in 2015 compared with those in 2013-2014. Attitudes toward epilepsy had also worsened in 2015. The rates of students that would not oppose their children playing with or attending school alongside children with epilepsy and those who thought that people with epilepsy should be hired in the same way as other people had decreased significantly in 2015 compared with those in 2011-2012 and 2013-2014. Analyses of information-seeking behavior on the Internet showed that the increase in Google search volume and Wikipedia page views was much less in 2015 than in 2011 and 2012. These findings suggest that familiarity with epilepsy had worsened even after media coverage of novel epilepsy-related car accidents. This suggests that media coverage in 2015 was less influential than that in 2011 and 2012.

Clinically silent seizures in a neonate with tuberous sclerosis.

Although seizures during infancy in patients with tuberous sclerosis complex are common, seizures in neonates are infrequent. Here, we report the clinical course and electroencephalography (EEG) findings of a neonate with tuberous sclerosis complex associated with clinically silent seizures. The patient was a girl in whom cardiac tumors were detected on fetal ultrasonography. Brain magnetic resonance imaging during the neonatal period showed subependymal and cortical tubers. Routine EEG indicated unexpected ictal changes with no noticeable clinical symptoms. Ictal EEG was associated with a subtle increase in heart rate and a brief increase in chin electromyogram. These changes were difficult to identify clinically. The patient later developed focal seizures and epileptic spasms and had severe psychomotor delay. The present case suggests the occurrence of clinically silent seizures before the appearance of epileptic spasms in infants with tuberous sclerosis, and that EEG is an option for neonates with a prenatal diagnosis.

Sustained improvement of attitudes about epilepsy following a reduction in media coverage of car accidents involving persons with epilepsy.

To evaluate changes in the attitudes of nonmedical students about epilepsy, the present study compared the results of a questionnaire that was completed in three different time periods: before media coverage of car accidents associated with epilepsy, during a period of abundant media coverage about epilepsy-related accidents, and after media coverage of epilepsy-related accidents. The nonmedical students who completed the questionnaire were divided into three groups: Years 08-10 (preaccident era), Years 11-12 (media coverage era), and Years 13-14 (postmedia coverage era). The rates of students who had read or heard about epilepsy and of students who did not think that epilepsy was a mental disorder increased annually throughout the study period. There was an improvement in attitudes about epilepsy after the media coverage era, and this change was not altered even after a decrease in the media coverage of epilepsy-related car accidents. Additionally, the rate of positive answers did not differ between Years 11-12 and Years 13-14. These findings demonstrate that the familiarity with and improved attitudes about epilepsy were sustained even after the media coverage of car accidents involving persons with epilepsy had decreased.

Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions.

We encountered two children with acute encephalopathy associated with unique clinical manifestations. Both the patients had status epilepticus at onset and neuroimaging studies revealed marked brain edema and bilateral thalamic lesions. Although they were treated with steroids and immunoglobulin, their outcomes were very poor. A thermolabile variant of carnitine palmitoyltransferase II and an elevated interleukin-6 level in cerebrospinal fluid were observed in one patient each. The constellation of clinical and neuroimaging findings in our patients is apparently not consistent with any established subtype of acute encephalopathy/encephalitis.

Is attitude toward epilepsy and driving affected by media coverage?

BACKGROUND: The media have recently reported on car accidents related to persons with epilepsy in Japan. We were concerned that sensational media coverage may worsen the attitude toward epilepsy among non-medical persons. We carried out a questionnaire survey among non-medical students in order to evaluate the effects of media on the attitude toward epilepsy and the holding of a driving license in persons with epilepsy. METHODS: The survey was performed using a structured questionnaire. The students were divided into two groups according to knowledge on the recent serious car accidents related to persons with epilepsy. In order to clarify the effects of media coverage, we compared the attitude toward epilepsy and driving in persons with epilepsy between those who knew about the accidents and those who did not. RESULTS: The proportion of students who were familiar with epilepsy was higher in those who knew about the accidents, whereas no significant difference was observed in attitude toward epilepsy. The proportion of students who opposed the idea of persons with epilepsy holding a driving license was not different according to knowledge of the car accidents, whereas that of students who opposed severe punishment of epilepsy patients in the case of a car accident was lower in those who knew about the accidents. CONCLUSIONS: Media coverage did not affect the attitude of the participants toward restriction of driving license in persons with epilepsy, whereas the proportion of participants who object to severe punishment for car accidents in persons with epilepsy was decreased.

A nationwide survey of adenovirus-associated encephalitis/encephalopathy in Japan.

BACKGROUND: Adenovirus is a major pathogen causing febrile illness among children. It may also cause acute encephalitis/encephalopathy. This study aimed to elucidate the clinical features of adenovirus-associated encephalitis/encephalopathy (AdVE) among children in Japan. METHODS: A nationwide survey of children with AdVE was conducted. An initial survey was distributed among pediatricians to obtain information about children with AdVE treated between January 2014 and March 2019. A second survey was used to obtain the clinical information of children with AdVE from hospitals that responded to the initial survey and those identified from a literature search of the reported cases. We collected demographic data and information about symptoms of infection, neurological symptoms, laboratory parameters, treatment, and outcomes. Outcomes were determined using the Pediatric Cerebral Performance Category Score. RESULTS: Clinical information was available for 23 children with a median age of 39 months. Two had preexisting neurological disorders and six had a history of febrile seizures. The outcome was good in 15 patients and poor in eight patients. Serum lactate dehydrogenase, glucose, and ammonia levels were higher among children with a poor outcome compared to those with a good outcome. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion was the most common type (n = 8), followed by acute encephalopathy with biphasic seizures and late reduced diffusion (n = 7). CONCLUSION: A prior history of febrile seizures was frequent in children with AdVE. Several different subtypes of acute encephalopathy were seen in children with AdVE, and the outcome was poor in those with acute encephalopathy with biphasic seizures and late reduced diffusion and hemorrhagic shock and encephalopathy syndrome. Elevated lactate dehydrogenase, glucose, and ammonia levels on admission were found to correlate with a poor outcome.

Attitude toward epilepsy after media coverage of car accidents related to persons with epilepsy in Japan.

We compared the familiarity with and attitude toward epilepsy among nonmedical students before and after media coverage on car accidents related to persons with epilepsy in Japan. We have annually conducted a questionnaire survey on attitude toward epilepsy since 2008. We divided students into two groups: pre-accident era (years 2008-2010) and post-accident era (years 2011-2012). The rate of students who have read or heard about epilepsy was significantly higher in the post-accident era. Students in the post-accident era answered more frequently that they do not oppose the idea of their kids playing or attending school with children with epilepsy, they think that people with epilepsy should be hired in the same way as other people, and they do not oppose the idea of their children one day marrying a person with epilepsy. The results of our study show that media coverage of car accidents related to persons with epilepsy positively affected familiarity with and attitude toward epilepsy.

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

High-throughput sequencing has identified vast numbers of variants in genetic disorders. However, the significance of variants at the exon-intron junction remains controversial. Even though most cases of Mowat-Wilson syndrome (MOWS) are caused by heterozygous loss-of-function variants in ZEB2, the pathogenicity of variants at exon-intron junction is often indeterminable. We identified four intronic variants in 5/173 patients with clinical suspicion for MOWS, and evaluated their pathogenicity by in vitro analyses. The minigene analysis showed that c.73+2T>G caused most of the transcripts skipping exon 2, while c.916+6T>G led to partial skipping of exon 7. No splicing abnormalities were detected in both c.917-21T>C and c.3067+6A>T. The minigene analysis reproduced the splicing observed in the blood cells of the patient with c.73+2T>G. The degree of the exon skipping was concordant with the severity of MOWS; while the patient with c.73+2T>G was typical MOWS, the patient with c.916+6T>G showed milder phenotype which has been seldom reported. Our results demonstrate that mRNA splicing assays using the minigenes are valuable for determining the clinical significance of intronic variants in patients with not only MOWS but also other genetic diseases with splicing aberrations and may explain atypical or milder cases, such as the current patient.

De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum.

The 5q14.3 microdeletion syndrome has recently been recognized as a clinical entity manifesting as severe intellectual disability, epilepsy, and brain malformations. Analysis of the shortest region of overlap among patients with this syndrome and subsequent identification of nucleotide alterations in the coding region of myocyte enhancer factor 2C gene (MEF2C) have suggested MEF2C as the gene responsible for the 5q14.3 microdeletion syndrome. We identified a de novo 3.4-Mb deletion of 5q14.3 in a patient with infantile spasms, microcephaly, and brain malformation. The deleted region in the present patient was positional toward the centromere, and MEF2C was not included in the deleted region. However the neurological and dysmorphic features of the present patient resembled those of patients with the 5q14.3 microdeletion syndrome. We consider that a positional effect is the likely explanation for this evidence. To study the precise mechanism of this positional effect, further information is required on patients showing atypical deletions neighboring MEF2C.