Assessing the Utility of Electroencephalography for Staring Episodes in Children with Autism.

Aim We aim to assess whether electroencephalography (EEG) has a justified role in assessing staring episodes in children with Autism Spectrum Disorder (ASD); investigating for possible diagnosis of epilepsy. Methods This is a retrospective study on an Irish paediatric cohort. We reviewed EEG studies performed on children with ASD referred specifically for staring episodes to Children's Health Ireland at Temple Street between 2010 and 2017. Results There are 120 EEG tests; labelled as follows: 59.1%: normal, 22.5%: abnormal, 16.6%: borderline and 1.6%: 'limited study'. Background abnormalities are seen in 22.5% and interictal epileptiform abnormalities are seen in 16.6%. Absence seizures are captured in none. Conclusions Interictal EEG in ASD patients often yields false positive findings. EEG for investigating staring episodes in children with ASD are probably not useful.

"I don't like talking about it because that's not who I am": Challenges children face during epilepsy-related family communication.

OBJECTIVES: Childhood epilepsy not only significantly impacts a child's social relationships and psychosocial wellbeing, but it can also cause disruptions in family relations. Children living with epilepsy often rely on parental figures for guidance in relation to their condition. A paucity of research has examined the challenges for children when communicating about epilepsy with parental figures. This qualitative study explored the challenges faced by children when talking about epilepsy with their parent(s). METHODS: Semi-structured interviews were conducted with 29 children (aged 6-16 years) living with epilepsy. Participants were recruited from a neurology department of a major pediatric hospital and from a national epilepsy association. Interviews were transcribed verbatim and thematically analyzed. RESULTS: Findings revealed four themes: communication impeding normalcy, parental overprotection, parental reactions to epilepsy-related communication, and restriction of activities as a consequence of epilepsy-related communication. DISCUSSION: The study highlights the need for a greater understanding of parent-child dialogue surrounding epilepsy and where challenges lie for children in conversing about their condition. Parents and health care professionals play a pivotal role in facilitating an environment where children feel comfortable talking about epilepsy. This information will be instrumental in the development of a communication-based intervention for families living with epilepsy.

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.

Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early-onset epileptic encephalopathies (EOEEs). While many of these disorders are caused by neuronal channelopathies, the role of synaptic and related neuronal proteins are increasingly being described. Here, we report a 6-year-old girl with unexplained EOEE characterized by multifocal seizures and profound global developmental delay. Recessive inheritance was considered due to parental consanguinity and Irish Traveller descent. Exome sequencing was performed. Variant prioritization identified a homozygous nonsense variant in the N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB) gene resulting in a premature stop codon and 46% loss of the protein. NAPB plays a role in soluble N-ethylmaleimide-sensitive fusion attachment protein receptor (SNARE)-complex dissociation and recycling (synaptic vesicle docking). Knockout mouse models of the murine ortholog Napb have been previously reported. These mice develop recurrent post-natal epileptic seizures in the absence of structural brain changes. The identification of a disease-causing variant in NAPB further recognizes the importance of the SNARE complex in the development of epilepsy and suggests that this gene should be considered in patients with unexplained EOEE.

Family communication in the context of pediatric epilepsy: A systematic review.

In childhood chronic illness, family communication can impact the child's and parents' psychosocial well-being. However, little is known about family communication in the context of epilepsy in childhood. The aim of this systematic review was to identify the existing evidence available on communication strategies adopted by families living with childhood epilepsy, including; the facilitators, barriers and challenges experienced by families when choosing to communicate, or not, about epilepsy; and the consequences of this communication. Papers published in the English language prior to March 2015 were identified following a search of six electronic databases: PubMed, MEDLINE, Web of Science, PsycINFO, CINAHL, and Scopus. Studies were included if they involved a sample of parents of children with epilepsy or children/young people with epilepsy (0-18years of age) and used qualitative, quantitative, or mixed methods. Following a comprehensive search and screening process, 26 studies were identified as eligible for inclusion in the review. No studies identified specific communication strategies adopted by families living with childhood epilepsy. Some studies found that talking about epilepsy with family members had positive consequences (e.g., communication as an effective coping strategy), with no negative consequences reported in any of the studies. The main barrier to communication for parents was an unwillingness to use the word "epilepsy" because of the perceived negative social connotations associated with the health condition. For children with epilepsy, barriers were as follows: parental desire to keep epilepsy a secret, parents' tendency to deny that the child had epilepsy, parental overprotection, and parents' tendency to impose greater restrictions on the child with epilepsy than on siblings without epilepsy. Future research investigating the communication strategies of families living with epilepsy is needed in order to create effective communication-based interventions for discussing epilepsy within the home.

To tell or not to tell: A systematic review of the disclosure practices of children living with epilepsy and their parents.

Disclosing an epilepsy diagnosis to others is complex due to the condition's largely invisible nature and associated stigma. Despite this, little has been documented in terms of what this process involves for children living with epilepsy (CWE) and their parents. A systematic review was conducted to examine and synthesize evidence pertaining to: (i) the disclosure practices of CWE and their parents, (ii) enablers and barriers for disclosure, (iii) the impact of disclosure practices, and (iv) the relationship between disclosure management and other variables. The electronic databases PsycINFO, PubMed, MEDLINE, CINAHL, Scopus, and Web of Science were searched systematically. Any empirical, peer-reviewed journal articles with findings reported regarding the self- or proxy-reported disclosure practices of children aged 0-18years with any type of epilepsy and/or their parents were deemed eligible for inclusion. Two review authors completed all stages of screening, data extraction, and quality assessment independently with two additional review authors resolving any discrepancies. A total of 32 articles were included in the review. Only one dated study examined disclosure as a primary focus; in the remaining studies, disclosure was a subfocus of larger studies or pertinent qualitative themes/subthemes incidentally emerged. The limited evidence suggests that: 1) CWE and parents adopt varying disclosure management strategies - from concealment to voluntary disclosure; 2) disclosure decisions are challenging for CWE and parents; 3) many barriers to disclosure exist (e.g., fear of stigmatization and rejection); 4) only a limited number of factors that enable disclosure are known (e.g., openness by others to engage with and learn about epilepsy); 5) disclosure management is significantly related to a number of variables (e.g., child/maternal perceived stigma and seizure control); and 6) there are varying outcomes for CWE and/or their parents in accordance with the adoption of specific disclosure management strategies (e.g., disclosure resulting in greater acceptance and the receipt of support or evoking anxiety/fear in others; and concealment resulting in misunderstandings, embarrassment, and stigma-coaching), but the evidence remains inconclusive in terms of which disclosure management strategy is optimal. While some preliminary work has been conducted, disclosure of epilepsy is a topic that has been largely neglected to date. This is despite the fact that disclosure is a significant source of concern for CWE and parent populations. Future studies should focus on elucidating the unique contextual factors that inform disclosure decisions in order to develop a theoretical framework that can explain the epilepsy disclosure decision-making process.

An outcome analysis of seventeen patients treated surgically for intractable extratemporal epilepsy.

We studied the outcomes of seventeen patients treated surgically for extratemporal lobe epilepsy. A retrospective case review of medical charts was performed. Seizure freedom post surgery was appraised using the Engel classification system. Post-operatively seven patients (41%) were seizure free (Engel class I), four patients were class II (23.5%), two in class III (11.76%) and four in class IV (23.5%). Three patients (17.6%) suffered traumatic injuries due to seizures. The mean duration of epilepsy prior to surgery was 12.2 years and the mean number of anti-epileptic medications given was 6.5. Seizure freedom rates for surgical treatment of extratemporal epilepsy in this centre are similar to those of other centres. Post-operative morbidity in this centre was similar to other centres. Any complications resolved with no lasting impairment.

Effect of imiquimod as an adjuvant for immunotherapy of genital HSV in guinea-pigs.

Imiquimod, an immunomodulator which upregulates cell-mediated immune responses, was evaluated as an adjuvant for immunotherapy of recurrent genital herpes simplex virus (HSV) infection in guinea-pigs. In two experiments at separate research centres, animals were immunized with HSV glycoprotein and either placebo, 1 or 5 days of imiquimod, or complete Freund's adjuvant, 14 and 35 days after genital HSV-2 infection. Recurrent lesion days were then evaluated from days 15-91. In both experiments, immunization with glycoprotein and imiquimod most effectively reduced recurrence compared with unimmunized controls (53-69%, p < 0.001-0.05). A peak reduction of 70-80% was observed following the second immunization. This reduction was greater than that provided by immunization with glycoprotein and complete Freund's adjuvant in these experiments or those previously reported.

Improved high-performance liquid chromatographic analysis of intracellular deoxyribonucleoside triphosphate levels.

The ability to measure intracellular deoxyribonucleoside triphosphate (dNTP) pool sizes is important for understanding the intracellular metabolism of DNA synthesis and repair. We have developed an improved method for measuring intracellular dNTP pool size by high-performance liquid chromatography (HPLC). Previous methods have enabled accurate measurement of dNTPs only in concentrations greater than approximately 10 pmol per 10(6) cells due to the inability to partially purify cell extracts, to the inability to apply extracts from extremely large numbers of cells, to the lack of efficient columns, to the presence of incompatible solvents, and to the inability to inject large volumes. We have modified a low-pressure strong anion-exchange column pre-step developed by others to concentrate and partially purify oxidized cell extracts while at the same time eluting them in a more compatible solvent for HPLC injection. The HPLC column is a YMC ODS-AQ column operating in a combined hydrophobic-interaction chromatography-reversed-phase chromatography mode. The injection and elution solvents are both phosphate-based. Using this method it is possible to measure intracellular dNTP levels well below 0.5 pmol per 10(6) cells or at the sensitivity of the DNA polymerase assay.

Partial seizures presenting as life-threatening apnea.

Apneic episodes, quite common in newborns, are considered rare after age 1 month, when gastroesophageal reflux, cardiac arrhythmias, idiopathic central apnea, and seizures become included in differential diagnosis. Determining the cause of apnea is important as treatment differs significantly and can be harmful; Caffeine given for presumed idiopathic central apnea is reported to have precipitated seizures in 2 patients with apneic seizures. Two cases of partial seizures presenting as apnea in infants were studied. Interictal EEG was normal in 1 and showed focal spikes in the other. Video EEG monitoring (16 channel) showed focal ictal discharge originating from temporal areas clearly preceding onset of apnea in both patients. Because therapeutic options are sometimes diametrically opposite and interictal EEGs are particularly unreliable for diagnosis, we recommend video-EEG monitoring if there is any doubt about the diagnosis before starting treatment in patients with apneic episodes.

Collagen type III in normal and prematurely ruptured amniotic membranes.

This study was performed on two groups of parturient women. The first group included 20 parturient women with premature rupture of membranes (PROM) and the second group included 20 parturient women with intact membranes. From each case a specimen was taken by a sterile swab from the posterior fornix for bacteriological examination to isolate and identify both aerobic and anaerobic vaginal organisms. Also a specimen 4 x 4 cm was cut from chorioamniotic membrane at site of rupture for histological examination including routine hematoxylin and eosin staining and silver impregnation technique (Gordon & Sweet method) for identification of reticular-argyrophilic fibers (collagen III). It has been found that collagen type III was significantly decreased in amniotic membranes in cases with PROM, its decrease can be considered as a predisposing factor of PROM. The beta-hemolytic streptococci showed a significant increase in vaginal swabs taken from cases with PROM. No linking correlation was found between types of organisms in vagina and decreased collagen type III in amniotic membrane with premature rupture. Polymorphonuclear leukocytes showed no significant increase in amniotic membrane belonging to cases of PROM.