Photosensitive benign myoclonic epilepsy in infancy

Purpose: To describe the electroclinical features of subjects who presented with a photosensitive benign myoclonic epilepsy in infancy (PBMEI). Methods: The patients were selected from a group of epileptic subjects with seizure onset in infancy or early childhood. Inclusion criteria were the presence of photic-induced myoclonic seizures and a favorable outcome. Cases with less than 24 month follow up were excluded from the analysis. Results: Eight patients were identified (4 males, 4 females). Personal history was uneventful. All of them had familial antecedents of epilepsy. Psychomotor development was normal in 6 cases, both before and after seizure onset. One patient showed a mild mental retardation and a further patient showed some behavioral disturbances. Neuroradiological investigations, when performed (5 cases), gave normal results. The clinical manifestations were typical and could vary from upward movements of the eyes to myoclonic jerks of the head and shoulders, isolated or briefly repetitive, never causing a fall. Age of onset was between 11 months and 3 years and 2 months. Characteristically, the seizures were always triggered by photic stimulation. Non photo-induced spontaneous myoclonic attacks were reported in 2 cases during the follow-up. Other types of seizures were present at follow-up in 2 cases. The outcome was favorable, even if, usually, seizure control required high AED plasma levels. Since the clinical symptoms were not recognized early, some patients were treated only many years after the onset of symptoms. Conclusion: Among BMEI patients, our cases constitute a subgroup in which myoclonic jerks were always triggered by photostimulation, in particular at onset of their epilepsy. © 2006 International League Against Epilepsy.

Similarities between eating attitudes among friendship groups in childhood:the moderating role of child anxiety

Objective: This study explores the similarities between individual and group eating and weight concerns in 8-11-year-old children. It also evaluates whether child anxiety moderates the relationships between individual and group eating and weight concerns. Methods: One hundred and fifty four children aged 8-11 completed questionnaires concerning their friendship groups, their eating and weight concerns, and their levels of anxiety. Results: Children's own scores on dietary restraint, body dissatisfaction, and external eating were significantly correlated with their friendship groups' scores on dietary restraint. Child anxiety moderated the relationships between group dietary restraint and individual scores on external eating. Group levels of dietary restraint predicted higher levels of external eating in children with moderate or high anxiety. Conclusions: In pre-adolescent children, peer group levels of dietary restraint are related to individual eating and weight concerns. More anxious children may be more susceptible to peer influences on their eating behaviors. © The Author 2011. Published by Oxford University Press.

Clinical characteristics of patients with epilepsy in a specialist neuropsychiatry service

Neuropsychiatry services provide specialist input into the assessment and management of behavioral symptoms associated with a range of neurological conditions, including epilepsy. Despite the centrality of epilepsy to neuropsychiatry and the recent expansion of neuropsychiatry service provision, little is known about the clinical characteristics of patients with epilepsy who are routinely seen by a specialist neuropsychiatry service. This retrospective study filled this gap by retrospectively evaluating a naturalistic series of 60 consecutive patients with epilepsy referred to and assessed within a neuropsychiatry setting. Fifty-two patients (86.7%) had active epilepsy and were under the ongoing care of the referring neurologist for seizure management. The majority of patients (N = 42; 70.0%) had a diagnosis of localization-related epilepsy, with temporal lobe epilepsy as the most common epilepsy type (N = 37; 61.7%). Following clinical assessment, 39 patients (65.0%) fulfilled formal diagnostic criteria for at least one psychiatric disorder; nonepileptic attack disorder (N = 37; 61.7%), major depression (N = 23; 38.3%), and generalized anxiety disorder (N = 16; 26.7%) were the most commonly diagnosed comorbidities. The clinical characteristics of patients seen in specialist neuropsychiatry settings are in line with the results from previous studies in neurology clinics in terms of both epilepsy and psychiatric comorbidity. Our findings confirm the need for the development and implementation of structured care pathways for the neuropsychiatric aspects of epilepsy, with focus on comorbid nonepileptic attacks and affective and anxiety symptoms. This is of particular importance in consideration of the impact of behavioral symptoms on patients' health-related quality of life.

Balance ability in 7- and 10-year-old children:associations with prenatal lead and cadmium exposure and with blood lead levels in childhood in a prospective birth cohort study

OBJECTIVES: Most studies reporting evidence of adverse effects of lead and cadmium on the ability to balance have been conducted in high-exposure groups or have included adults. The effects of prenatal exposure have not been well studied, nor have the effects in children been directly studied. The aim of the study was to identify the associations of lead (in utero and in childhood) and cadmium (in utero) exposure with the ability to balance in children aged 7 and 10 years. DESIGN: Prospective birth cohort study. PARTICIPANTS: Maternal blood lead (n=4285) and cadmium (n=4286) levels were measured by inductively coupled plasma mass spectrometry in women enrolled in the Avon Longitudinal Study of Parents and Children (ALSPAC) during pregnancy. Child lead levels were measured in a subsample of 582 of ALSPAC children at age 30 months. MAIN OUTCOME MEASURES: Children completed a heel-to-toe walking test at 7 years. At 10 years, the children underwent clinical tests of static and dynamic balance. Statistical analysis using SPSS V.19 included logistic regression modelling, comparing categories of ≥ 5 vs <5 µg/dL for lead, and ≥ 1 vs <1 µg/L for cadmium. RESULTS: Balance at age 7 years was not associated with elevated in utero lead or cadmium exposure (adjusted OR for balance dysfunction: Pb 1.01 (95% CI 0.95 to 1.01), n=1732; Cd 0.95 (0.77 to 1.20), n=1734), or with elevated child blood lead level at age 30 months (adjusted OR 0.98 (0.92 to 1.05), n=354). Similarly, neither measures of static nor dynamic balance at age 10 years were associated with in utero lead or cadmium exposure, or child lead level. CONCLUSIONS: These findings do not provide any evidence of an association of prenatal exposure to lead or cadmium, or lead levels in childhood, on balance ability in children. Confirmation in other cohorts is needed.

Mechanisms of altered cortical excitability in photosensitive epilepsy

Despite the multiplicity of approaches and techniques so far applied for identifying the pathophysiological mechanisms of photosensitive epilepsy, a generally agreed explanation of the phenomenon is still lacking. The present thesis reports on three interlinked original experimental studies conducted to explore the neurophysiological correlates and the phatophysiological mechanism of photosensitive epilepsy. In the first study I assessed the role of the habituation of the Visual Evoked Response test as a possible biomarker of epileptic visual sensitivity. The two subsequent studies were designed to address specific research questions emerging from the results of the first study. The findings of the three intertwined studies performed provide experimental evidence that photosensitivity is associated with changes in a number of electrophysiological measures suggestive of altered balance between excitatory and inhibitory cortical processes. Although a strong clinical association does exist between specific epileptic syndromes and visual sensitivity, results from this research indicate that photosensitivity trait seems to be the expression of specific pathophysiological mechanisms quite distinct from the “epileptic” phenotype. The habituation of Pattern Reversal Visual Evoked Potential (PR-VEP) appears as a reliable candidate endo-phenotype of visual sensitivity. Interpreting the findings of this study in the context of the broader literature on visual habituation we can hypothesise the existence of a shared neurophysiological background between photosensitive epilepsy and migraine. Future studies to elucidate the relationship between the proposed indices of cortical excitability and specific polymorphisms of excitatroy and inhibitory neurotransmission will need to be conducted to assess their potential role as biomarkers of photosensitivity.

The effectiveness of lamotrigine in the treatment of photosensitive epilepsy

Photosensitive epilepsy and associated pattern sensitivity are more prevalent in females and are usually treated with sodium valproate. Sodium valproate has an adverse effect profile, which particularly affects females, including teratogenicity, association with the polycystic ovary syndrome and weight gain. It would be useful therefore if an alternative treatment for photosensitive epilepsy could be found. The principle aim of this study was to investigate the effectiveness of lamotrigine in the treatment of photosensitive epilepsy in adults and children. Patients were either drug-naive, commencing lamotrigine therapy or were transferring from other antiepileptic drugs to lamotrigine (primarily sodium valproate) due to lack of response, adverse effects or desired pregnancy. The photoparoxsymal response in the electroencephalograph was used as the primary measure of photo and pattern sensitivity. In addition the effects of lamotrigine on occipital spikes and normal responses in the EEG to visual stimuli were investigated. Secondary measures also included the resting EEG, seizures, body mass index, menstrual function, mood and cognitive function. The results suggest that in adult patients lamotrigine is efficacious in the treatment of photosensitive epilepsy, although it appears inferior to sodium valproate. Lamotrigine does however have a more favourable adverse effect profile than valproate. The results indicate that lamotrigine therapy is suitable for photosensitive epilepsy in women of childbearing age or in patients experiencing unacceptable adverse effects with valproate therapy. Patients are more likely to respond to lamotrigine treatment if they present with sensitivity to a limited number of frequencies. Lamotrigine does not seem to be as efficacious in the treatment of children, although against it may be considered a second line drug if the child does not respond to or will not tolerate sodium valproate.

Psychiatric adverse effects of zonisamide in patients with epilepsy and mental disorder comorbidities

Over the last few years, zonisamide has been proposed as a potentially useful medication for patients with focal seizures, with or without secondary generalization. Since psychiatric adverse effects, including mania, psychosis, and suicidal ideation, have been associated with its use, it was suggested that the presence of antecedent psychiatric disorders is an important factor associated with the discontinuation of zonisamide therapy in patients with epilepsy. We, therefore, set out to assess the tolerability profile of zonisamide in a retrospective chart review of 23 patients with epilepsy and comorbid mental disorders, recruited from two specialist pediatric (n=11) and adult (n=12) neuropsychiatry clinics. All patients had a clinical diagnosis of treatment-refractory epilepsy after extensive neurophysiological and neuroimaging investigations. The vast majority of patients (n=22/23, 95.7%) had tried previous antiepileptic medications, and most adult patients (n=9/11, 81.8%) were on concomitant medication for epilepsy. In the majority of cases, the psychiatric adverse effects of zonisamide were not severe. Four patients (17.4%) discontinued zonisamide because of lack of efficacy, whereas only one patient (4.3%) discontinued it because of the severity of psychiatric adverse effects (major depressive disorder). The low discontinuation rate of zonisamide in a selected population of patients with epilepsy and neuropsychiatric comorbidity suggests that this medication is safe and reasonably well-tolerated for use in patients with treatment-refractory epilepsy. Given the limitations of the present study, including the relatively small sample size, further research is warranted to confirm this finding. © 2013 Elsevier Inc.

Magnetoencephalography in epilepsy

Magnetoencephalographic (MEG) signals, like electroencephalographic (EEG) measures, are the direct extracranial manifestations of neuronal activation. The two techniques can detect time-varying changes in electromagnetic activity with a sub-millisecond time resolution. Extra-cranial electromagnetic measures are the cornerstone of the non-invasive diagnostic armamentarium in patients with epilepsy. Their extremely high temporal resolution – comparable to intracranial recordings – is the basis for a precise definition of onset and propagation of ictal and interictal abnormalities. Given the cost of the infrastructure and equipment, MEG has yet to develop into a routinely applicable diagnostic tool in clinical settings. However, in recent years, an increasing number of patients with epilepsy have been investigated – usually in the context of presurgical evaluation of refractory epilepsies – and initial encouraging results have been reported. We will briefly review the principles and the technology behind MEG and its contribution in the diagnostic work-up of patients with epilepsy.

Global variations and time trends in the prevalence of childhood myopia, a systematic review and quantitative meta-analysis:implications for aetiology and early prevention

The aim of this review was to quantify the global variation in childhood myopia prevalence over time taking account of demographic and study design factors. A systematic review identified population-based surveys with estimates of childhood myopia prevalence published by February 2015. Multilevel binomial logistic regression of log odds of myopia was used to examine the association with age, gender, urban versus rural setting and survey year, among populations of different ethnic origins, adjusting for study design factors. 143 published articles (42 countries, 374 349 subjects aged 1- 18 years, 74 847 myopia cases) were included. Increase in myopia prevalence with age varied by ethnicity. East Asians showed the highest prevalence, reaching 69% (95% credible intervals (CrI) 61% to 77%) at 15 years of age (86% among Singaporean-Chinese). Blacks in Africa had the lowest prevalence; 5.5% at 15 years (95% CrI 3% to 9%). Time trends in myopia prevalence over the last decade were small in whites, increased by 23% in East Asians, with a weaker increase among South Asians. Children from urban environments have 2.6 times the odds of myopia compared with those from rural environments. In whites and East Asians sex differences emerge at about 9 years of age; by late adolescence girls are twice as likely as boys to be myopic. Marked ethnic differences in age-specific prevalence of myopia exist. Rapid increases in myopia prevalence over time, particularly in East Asians, combined with a universally higher risk of myopia in urban settings, suggest that environmental factors play an important role in myopia development, which may offer scope for prevention.

Inappropriate oral formulations and information in paediatric trials

Previously, quality of formulations information provided for oral medications used in paediatric clinical trials published in 10 highly cited journals between 2002 and 2004 raised concerns. This short report explores if there was any subsequent improvement on how the formulations used in trials involving children

An evaluation of the epidemiology of medication discrepancies and clinical significance of medicines reconciliation in children admitted to hospital

Aims: To determine the incidence of unintended medication discrepancies in paediatric patients at the time of hospital admission; evaluate the process of medicines reconciliation; assess the benefit of medicines reconciliation in preventing clinical harm. Method: A 5 month prospective multisite study. Pharmacists at four English hospitals conducted admission medicines reconciliation in children using a standardised data collection form. A discrepancy was defined as a difference between the patient's preadmission medication (PAM), compared with the initial admission medication orders written by the hospital doctor. The discrepancies were classified into intentional and unintentional discrepancies. The unintentional discrepancies were assessed for potential clinical harm by a team of healthcare professionals, which included doctors, pharmacists and nurses. Results: Medicines reconciliation was conducted in 244 children admitted to hospital. 45% (109/244) of the children had at least one unintentional medication discrepancy between the PAM and admission medication order. The overall results indicated that 32% (78/244) of patients had at least one clinically significant unintentional medication discrepancy with potential to cause moderate 20% (50/244) or severe 11% (28/244) harm. No single source of information provided all the relevant details of a patient's medication history. Parents/carers provided the most accurate details of a patient's medication history in 81% of cases. Conclusions: This study demonstrates that in the absence of medicines reconciliation, children admitted to hospitals across England are at risk of harm from unintended medication discrepancies at the transition of care from the community to hospital. No single source of information provided a reliable medication history.

Community-Based Study of the Association of High Myopia in Children with Ocular and Systemic Disease

Purpose. High myopia in childhood is associated with important ocular and systemic conditions. However in the UK, high myopia in early childhood is not specifically identified in current ophthalmology, optometry, or orthoptic protocols for screening, referral, or investigation. An ongoing study in the West Midlands, UK, is investigating high myopia presenting to community health care clinics with the aim of compiling guidelines for assessment and subsequent referral. Methods. Children with high myopia were identified from community optometric and orthoptic sources and invited for an ophthalmology and optometry examination to ascertain possible ocular or systemic disease. Results. High myopia with no associated ocular or systemic condition was present in 15 (56%) of the children. In seven children (25%), associated ocular problems were found including unrecognized retinal dystrophies and amblyopia. Systemic disorders associated with high myopia were found in five children (19%) and included Sticklers syndrome, Weill-Marchesani syndrome, and homocystinuria. In one child, the diagnosis made before this study was found to be incorrect, and in another child, the results were inconclusive. In two cases, the diagnosis of a systemic condition in the child led to the identification of the disease in at least one relative. Conclusions. There is a high prevalence of ocular and systemic abnormality in young children seen in the community. Optometric and ophthalmologic assessment of children less than 10 years with myopia ≥5 D is likely to identify significant ocular or systemic disease, a proportion of which will respond to medical intervention. Detection and prompt referral of these cases by community health care services may be expected to prolong vision and possibly life expectancy.

Neonatal seizures and post-neonatal epilepsy:a seven-year follow-up study

BACKGROUND: Seizures are one of the most common symptoms of acute neurological disorders in newborns. This study aims at evaluating predictors of epilepsy in newborns with neonatal seizures. METHODS: we recruited consecutively eighty-five neonates with repeated neonatal video-EEG-confirmed seizures between Jan 1999 and Dec 2004. The relationship between clinical, EEG and ultrasound data in neonatal period and the development of post-neonatal epilepsy was investigated at 7 years of age. RESULTS: Fifteen patients (17.6%) developed post-neonatal epilepsy. Partial or no response to anticonvulsant therapy (OR 16.7, 95% CI: 1.8-155.8, p= .01; OR 47, 95% CI: 5.2-418.1, p<.01 respectively), severely abnormal cerebral ultrasound scan findings (OR: 5.4; 95% CI: 1.1-27.4; p<.04), severely abnormal EEG background activity (OR: 9.5; 95% CI: 1.6-54.2; p= .01) and the presence of status epilepticus (OR: 6.1; 95% CI: 1.8-20.3; p<.01) were found to be predictors of epilepsy. However, only the response to therapy seemed to be an independent predictor of post-neonatal epilepsy. CONCLUSION: Neonatal seizures seem to be related to post-neonatal epilepsy. Recurrent and prolonged neonatal seizures may act on an epileptogenic substrate, causing further damage, which is responsible for the subsequent clinical expression of epilepsy.

Pulse oximetry screening for congenital heart defects in newborn infants:an evaluation of acceptability to mothers

Background: Introducing neonatal screening procedures may not be readily accepted by parents and may increase anxiety. The acceptability of pulse oximetry screening to parents has not been previously reported. Objective: To assess maternal acceptability of pulse oximetry screening for congenital heart defects and to identify factors predictive of participation in screening. Design and setting: A questionnaire was completed by a cross-sectional sample of mothers whose babies were recruited into the PulseOx Study which investigated the test accuracy of pulse oximetry screening. Participants: A total of 119 mothers of babies with false-positive (FP) results, 15 with true-positive and 679 with true-negative results following screening. Main outcome measures: Questionnaires included measures of satisfaction with screening, anxiety, depression and perceptions of test results. Results: Participants were predominantly satisfied with screening. The anxiety of mothers given FP results was not significantly higher than that of mothers given true-negative results (median score 32.7 vs 30.0, p=0.09). White British/Irish mothers were more likely to participate in screening, with a decline rate of 5%; other ethnic groups were more likely to decline with the largest increase in declining being for Black African mothers (21%, OR 4.6, 95% CI 3.8 to 5.5). White British mothers were also less anxious (p<0.001) and more satisfied (p<0.001) than those of other ethnicities Conclusions: Pulse oximetry screening was acceptable to mothers and FP results were not found to increase anxiety. Factors leading to differences in participation and satisfaction across ethnic groups need to be identified so that staff can support parents appropriately.