Perceived need for restrictions on activity for children with epilepsy.

BACKGROUND: Children and youth with epilepsy have long been subjected to excessive restrictions on extracurricular activities due to concerns over risk of injury. Over time physicians and medical regulatory associations have liberalized the advice given for people with epilepsy to promote independence, self-esteem and general health benefits of physical activity. Current evidence suggests that few restrictions are needed for children with epilepsy beyond water-related precautions and avoidance of very high-risk activities. However, more stringent restrictions on daily activities may be imposed by caregivers. This study was aimed at exploring current perceptions of parents regarding restrictions on activity for children with epilepsy and the child's perspective on restrictions related to the diagnosis. METHODS: A self-administered questionnaire was offered to a sample of parent-child dyads of children/youth with epilepsy attending summer camp for children with epilepsy age 8-18years. A 10-item validated HARCES Parent Scale of Childhood Epilepsy was completed by the parent/guardian and a modified-HARCES completed by the child. The primary objective was to assess the degree of restrictions placed on children with epilepsy from the perspective of child and parent assessed independently. Agreement of perceived restrictions between parent-child dyads was also determined. RESULTS: 21 parent/guardian-child pairs were recruited with mean age of children/youth 12.7years (range 9-16years). Total HARCES scores for parents and guardians ranged from 11-26 (x=16.5; SD 4.9) while total scores for children with epilepsy similarly ranged from 10-25 (x=15.2; SD 4.9). There were no differences in total parent scores when analyzed by child's age (<13 or >13years), gender, age of seizure onset, seizure frequency or seizure type. Total HARCES scores showed no agreement between parent and child pairs with correlation of 0.2798 (95% CI -0.173-0.635). CONCLUSIONS: Children and youth with epilepsy often face activity restrictions based on fear of perceived risk of injury. This small sample shows evidence that even more permissive parents and his/her children still feel limited by such restrictions. Parents and children do not perceive these restrictions in the same way despite similar education by physicians highlighting an important secondary role of epilepsy camps in targeting misperceptions and educating families on appropriate precautions.

Food insecurity and migraine in Canada.

AIM: The aim of this study was to examine the prevalence of household food insecurity in individuals reporting migraine within a large population-based sample of Canadians. METHODS: The Canadian Community Health Survey (CCHS) uses a stratified cluster sample design to obtain information on Canadians ≥12 years of age. Data on household food insecurity were assessed for individuals who reported having migraine or not, providing a current point prevalence. This was assessed for stability in two CCHS datasets from four and eight years earlier. Factors associated with food insecurity among those reporting migraine were examined and a logistic regression model of food insecurity was developed. We also examined whether food insecurity was associated with other reported chronic health conditions. RESULTS: Of 48,645 eligible survey respondents, 4614 reported having migraine (weighted point prevalence 10.2%). Food insecurity was reported by 14.8% who reported migraine compared with 6.8% of those not reporting migraine, giving an odds ratio of 2.4 (95% confidence interval 2.0-2.8%). This risk estimate was stable over the previous eight years. The higher risk for food insecurity was not unique to migraine and was seen with some, but not all, chronic health conditions reported in the CCHS. CONCLUSIONS: Food insecurity is more frequent among individuals reporting migraine in Canada.

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

OBJECTIVE: Infantile spasms (IS) are a severe form of childhood epilepsy associated with autism spectrum disorders (ASD) in up to 35% of cases. The objective of this post hoc analysis of our randomized control trial was to determine whether rapid diagnosis and treatment of IS could limit the incidence of ASD while identifying risk factors related to ASD outcome. METHODS: Patients with IS were randomized in a standardized diagnostic and treatment protocol. Clinical and electroencephalogram (EEG) evaluations were completed at all eight visits over 5 years, while cognitive evaluations were administered at 0, 6, 24 and 60 months, respectively. Autism was initially screened by means of the Checklist for Autism in Toddlers (CHAT) at 24 months, and formally assessed at the 30-and 60-month follow-ups using the Autism Diagnostic Observation Schedule-Generic (ADOS-G). RESULTS: Of the 69 patients included in the study, 25 could not be assessed due to severe delay or death. Eleven of the 42 patients screened with CHAT, were found to be at risk of an ASD outcome. ADOS was performed in 44 and 10 were diagnosed with ASD. The CHAT proved to correlate highly with the ADOS (80% ppv). Only patients with symptomatic IS developed ASD (p = 0.003). Earlier diagnosis or successful treatment did not correlate with a reduced rate of ASD. Other risk factors were identified such as having chronic epileptic discharges in the frontotemporal areas after disappearance of hypsarrhythmia (p = 0.005 and p = 0.007) and being of nonwhite origin (p = 0.009). SIGNIFICANCE: ASD was only observed in children with sympyomatic IS. Other clinical risk factors include chronic frontotemporal epileptic activity and being of non-white origin. Early diagnosis and treatment did not prevent ASD as an outcome of IS. However, patients at risk for ASD could be identified early on and should in the future benefit from early intervention to potentially improve their long-term outcome.

Food insecurity and epilepsy in a nationally representative sample.

BACKGROUND: Food insecurity amongst patients with epilepsy has not been previously studied. The aim of this study was to compare the presence of food insecurity within a nationally representative sample of individuals reporting epilepsy with that within the general population. METHODS: The Canadian Community Health Survey, Cycle 3.1, is a cross-sectional survey that uses a stratified cluster sample design to obtain information on Canadians 12years of age or older. Data on food insecurity were compared for those who reported having epilepsy and the remainder of the population. RESULTS: Of the 102,927 eligible survey respondents, 654 reported having epilepsy. Food insecurity was considerably more likely to be reported amongst those also reporting epilepsy with a rate of 10.8% compared with those not reporting epilepsy with a rate of 5.2% (odds ratio=2.2, (95% CI=1.6, 3.0)). Binary bivariate prediction of food insecurity within the population of respondents reporting epilepsy included the following: education, income, family size, and home ownership. CONCLUSIONS: The experience of food insecurity appears to be more frequent amongst persons living with epilepsy. Whether this is related directly to epilepsy or factors within the epilepsy experience is unclear.

A randomized controlled trial of flunarizine as add-on therapy and effect on cognitive outcome in children with infantile spasms.

PURPOSE: Cognitive impairment is observed commonly in children with a history of infantile spasms (IS). The goal of this study was to prospectively examine the effect on cognitive outcome of a neuroprotective agent used as adjunctive therapy during treatment of the spasms. METHODS: In a randomized controlled trial, patients received a standardized therapy plus flunarizine or placebo. The standardized treatment consisted of vigabatrin as first-line therapy. Nonresponders were switched to intramuscular synthetic adrenocorticotropic hormone (sACTH depot) after 2 weeks and, if necessary, to topiramate after two additional weeks. The Vineland Adaptive Behavior Scale (VABS) and Bayley Scales of Infant Development (BSID) were used as outcome measures 24 months after the intervention. KEY FINDINGS: Sixty-eight of 101 children diagnosed over 3 years in seven centers in Canada received either adjunctive flunarizine or placebo. Sixty-five of the 68 children (96%) became spasm-free within 8 weeks and no late relapse occurred. Bayley and Vineland results were available at baseline and at 24 months in 45 children. There was no significant difference in the BSID developmental quotient between the flunarizine- and placebo-treated children at baseline (44.3 ± 35.5 vs. 30.9 ± 29.8; p = 0.18) or 24 months later (56.9 ± 33.3 vs. 46 ± 34.2; p = 0.29). However, the 10 flunarizine-treated children with no identified etiology had a better outcome than the eight controls at 24 months on both the Vineland Scale (84.1 ± 11.3 vs. 72.3 ± 9.8; p = 0.03) and the Bayley Scale (87.6 ± 14.7 vs. 69.9 ± 25.3; p = 0.07). SIGNIFICANCE: Our study failed to demonstrate a protective effect of flunarizine on cognitive outcome in a cohort of children with IS. An analysis of subgroups suggested that flunarizine may further improve cognitive outcome in children with no identified etiology.

A population-based study of dystrophin mutations in Canada.

INTRODUCTION: We carried out a population-based study of dystrophin mutations in patients followed by members of the Canadian Paediatric Neuromuscular Group (CPNG) over a ten-year period. OBJECTIVES: We aimed to describe the changes in diagnostic testing for dystrophinopathy and to determine the frequency of dystrophin mutations from 2000 to 2009. METHODS: De-identified data containing the clinical phenotypes, diagnostic methods, and mutational reports from dystrophinopathy patients followed by CPNG centres from January 2000 to December 2009 were analyzed using descriptive statistics. RESULTS: 773 patients had a confirmed diagnosis of dystrophinopathy based on genetic testing (97%), muscle biopsy (2%), or family history (1%). 573 (74%) had complete deletion/duplication analysis of all 79 exons or whole gene sequencing, resulting in 366 (64%) deletions, 64 (11%) duplications, and 143 (25%) point mutations. The percentage of patients who were diagnosed using currently accepted genetic testing methods varied across Canada, with a mean of 63% (SD 23). 246 (43%) mutations involved exons 45 to 53. The top ten deletions (n=147, 26%) were exons 45-47, 45-48, 45, 45-50, 45-55, 51, 45-49, 45-52, 49-50, and 46-47. 169 (29%) mutations involved exons 2 to 20. The most common duplications (n=29, 5.1%) were exons 2, 2-7, 2-17, 3-7, 8-11, 10, 10-11, and 12. CONCLUSION: This is the most comprehensive report of dystrophin mutations in Canada. Consensus guidelines regarding the diagnostic approach to dystrophinopathy will hopefully reduce the geographical variation in mutation detection rates in the coming decade.

Epilepsy and activity--a population-based study.

PURPOSE: To compare the activity profiles of a nationally representative sample of individuals with epilepsy compared to the general population. METHODS: The Canadian Community Health Survey is a cross-sectional survey that uses a stratified cluster sample design to obtain information on Canadians 12 years of age or older. Data on activity and energy expenditure, among those aged 12-39 years, were compared for those who reported having epilepsy and the remainder of the population. RESULTS: Of the 53,552 respondents, 341 reported having epilepsy. There was no difference in the monthly frequency of leisure physical activity of >15 min duration between those who did and did not have epilepsy. The daily energy expenditure related to leisure physical activity was also similar between the two groups. The choice of leisure activity was similar, but those with epilepsy were more likely to use walking as a leisure physical activity and were less likely to be involved in ice hockey, weight training, and home exercise. DISCUSSION: These results suggest that the negative attitudes toward restricting access to physical activity do not appear to be adversely affecting the leisure activity of Canadian youth and young adults with epilepsy.

Is temperature regulation different in children susceptible to febrile seizures?

OBJECTIVE: To examine the relationship between the presence and magnitude of fever and susceptibility to febrile seizures, defined as a known family history of febrile seizures. METHODS: Reanalysis of a case-control study dataset (Am J Dis Child. 1993; 147: 35-39). The magnitude of presenting fever was examined between the incident febrile seizure group (N = 75) and febrile control group (N = 150) for a family history of febrile seizures. The presence of fever was examined between the febrile control group (N = 150) and the afebrile control group (N = 150) for a family history of febrile seizures. RESULTS: Children with incident febrile seizures had a higher temperature in the emergency department than febrile controls (39.3 degrees C vs 39.0 degrees C, p = .004). Febrile control children with a known family history of febrile seizures had higher temperatures than those without a known family history (39.5 degrees C vs 38.9 degrees C, p = .04). A model of fever magnitude within the febrile group (seizures and controls) suggested that most of this relationship was on the basis of family history of febrile seizures rather than seizure or control status, with a possibility of interaction. Within the control children (febrile and afebrile), a known family history of febrile seizures was associated with fever (OR 3.4, 95% CI: 1.1,10.7). CONCLUSIONS: Children susceptible to febrile seizures through a known family history of febrile seizures appear more likely to present to emergency departments with fever, and when compared to their febrile counterparts, a fever of higher magnitude. This data supports Rantala's assertion "It may be that regulation of temperature is different in children susceptible to febrile seizures".

Ophthalmoscopy: a 7-step program.

BACKGROUND: Fundoscopy is viewed as a difficult or impossible task by many students and physicians. We have used a novel seven-step approach to teach trainees to use the ophthalmoscope. The technique is based on the premise that success is most easily achieved if the necessary motor skills are mastered first. A step by step approach will enable others to teach their trainees to attain the ability to routinely view the fundi of their pediatric patients. METHODS: Step 1 involves examination of the trainee's fundi to ensure there is no impediment to their success. In Step 2 the student examines the teacher. This identifies major errors. The next step teaches the trainee how to hold the ophthalmoscope. Step 4 gets the learner to read a journal article through the ophthalmoscope. In Step 5 they examine the teacher's eyes again and with a little help they are always successful. In the last two steps an older patient is first examined and finally the student examines a young child. CONCLUSION: This method differs from most other approaches by leaving the cognitive component of ophthalmoscopy until the student is comfortable with handling the instrument. It has been uniformly successful among our students and residents.

Status epilepticus in children.

Status epilepticus is defined as a continuous seizure lasting for at least 30 minutes or recurrent seizures persisting for over 30 minutes, without recovery of consciousness. The estimated incidence in childhood is approximately 20 per 100,000 children per year. The incidence is higher in those under one year of age, with an incidence of approximately 50 per 100,000 per year. Among 1-4 year olds, approximately 30 per 100,000 per year will have an episode of status and in those aged 5-9 years, the incidence is approximately 10 per 100,000 per year. Those aged 10-15 years have the lowest incidence (approximately 2 per 100,000 per year). The mortality associated with status epilepticus in children is estimated at 2.5-5%, and is primarily related to the underlying cause of the episode of status. Neurological morbidity is seen in less than 15% of affected children. In most cases, the episode of status is either a single isolated event or is the first manifestation of epilepsy. Only 12% of cases occur in children with a prior diagnosis of epilepsy. It is essential to have an organized approach for dealing with status epilepticus. There is little data to support the contention that one protocol is better than another. It is recommended that each center should decide on a protocol that is rational and is standard practice for their patients. Most centers initiate therapy with either buccal or intravenous lorazepam. Alternate initial therapies include diazepam or midazolam. Early treatment is generally recommended although, in humans, there is minimal evidence that the length of seizure directly affects outcome. There is however, abundant evidence in animals, which indicates that longer seizures are harmful and result in poorer outcome. Early intervention does, however, increase the likelihood of attaining seizure control in humans. The optimal management of the child in a prolonged seizure therefore demands an understanding of the potential causes, appropriate investigations, and therapy.

Caffeine as an adjuvant to ibuprofen in treating childhood headaches.

In adults, caffeine has been shown to enhance the effectiveness of most analgesics, including ibuprofen. This double-blind cross-over pilot study evaluated the effect of ibuprofen and caffeine compared with ibuprofen and placebo in 12 children with headaches. Patients completed diaries for both headaches. Outcome measures included a five-faces severity scale, a measure of clinical disability, and a scale of pain severity. Comparison of the cumulative response scores revealed a trend toward a greater response to ibuprofen-caffeine treatment of headaches (P = 0.14, P = 0.09, and P = 0.07 for the three measures, respectively). Further larger studies are needed to confirm this effect and to identify potential responders.

Tic disorders in childhood.

Despite our familiarity with tic disorders, their management remains challenging. The difficulty seldom relates to the diagnosis, which is usually based on the history, but rather in dealing with the impact of the tics and multiple comorbidities. The child and family must be educated and must be taught how to facilitate a positive attitude among others who come in contact with the patient. Knowledge and acceptance of the tics by other family members, peers, teachers, and coaches often become central to the child's well-being. Although many children can be managed without pharmacotherapy, medications are often central to achieving success. The goals of therapy and the appropriate choice of medication must be individualized. We are frequently challenged not only by the wide array of medication choices available but also by the decision of which symptom to treat first. The tics, despite being flamboyant, are often viewed by the child and family as less disabling than co-occurring conditions, such as attention-deficit hyperactivity disorder, obsessive-compulsiveness, or rage. Even when tics are the major issue, patients must define their goals for therapy. It is unreasonable to expect a complete resolution of tics and safety usually rules in favor of better tolerated but potentially less efficacious therapies. Developing strategies to minimize the lifelong impact of the multiple components of Tourette syndrome is an essential aspect of the care of these patients.

Headaches in the pediatric population.

Headaches are an extremely common complaint encountered in the pediatric population. The headache history establishes the diagnosis in the vast majority and most importantly identifies features suggesting a secondary cause. The headache history outlined will aid in headache classification and screen for ominous causes. A comprehensive headache examination is aimed at excluding secondary causes. Headaches resulting from serious organic causes are virtually always associated with neurologic signs at the time of presentation. Investigations are not routinely required for pediatric headache, but neuroimaging should be strongly considered in children with an abnormal neurologic examination or history worrisome for intracranial pathology. The management approach for children with primary headaches should focus on reassurance and education. Developing an individualized therapeutic strategy requires knowledge of the child's headache-related disability and impact on quality of life. Treatment should begin with a nonpharmacologic approach, which influences lifelong prevention and management of headaches. Pharmacologic interventions target both acute symptomatic treatment and prophylactic medications. Preventative treatment may be beneficial when headaches result in significant disability and impaired quality of life. The limited available evidence for prophylactic treatment options is reviewed. Research into pediatric headache prevention and management remains a priority given the potential lifelong morbidity associated with headache.

Descriptive epidemiology of concussion.

To describe the epidemiology of reported concussion derived from a large, nationally representative health survey, the microdata files of the Canadian National Population Health Survey (1996-1997) were analyzed. Respondents reported whether they had "any injuries that were serious enough to limit their normal activities" in the preceding 12 months and the nature of the most serious injury. A total of 99.8% of 81,804 eligible respondents, representing 28,606,100 Canadians, reported their injury experience within the preceding year, with 89 reporting a concussion. The annual prevalence of Canadians reporting a concussion as their most serious injury was 110 per 100,000 population (95% confidence interval: 80, 140). Those reporting concussion were more likely to be younger (P < 0.001) and male (P = 0.02). Males were significantly overrepresented in the 16-34 year-old group (P = 0.004). More than 54% of all concussions were sport-related (95% confidence interval: 39%, 67%), occurring at a place for recreation or sport, with sport having a role in >85% of concussions in the 16-34 year-old group. This study presents annual prevalence estimates of reported concussion, derived from a sizeable, nationally representative population survey.

Activity levels among adolescents with migraine.

Data was analyzed from the nationally representative Canadian Community Health Survey. A total of 17,549 adolescents reported whether they had "migraine headaches" (response rate 99.9%) and in what exercise activities they participated. Those with migraine reported more daily activity than migraine-free peers when corrected for age and sex. They were as likely to play contact sports but were more involved in other noncompetitive activities, such as walking (P<0.001), gardening and yard work (P=0.008), jogging and running (P=0.002), and fishing (P=0.03). Canadian adolescents with migraine are therefore overall more active than their peers without migraine.

Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia.

Familial paroxysmal nonkinesigenic dyskinesia (Mount and Reback syndrome) is characterized by episodes of dystonia and chorea, which are precipitated by fatigue, emotional stress, alcohol, or foods. We report two children from a large kindred with this condition who responded to sublingual lorazepam.

Brainstem calcification in Möbius syndrome.

Möbius syndrome is characterized by congenital facial diplegia, and may be associated with limb or orofacial malformations. A number of mechanisms have been proposed to explain the pathogenesis, including prenatal ischemia. We identified seven children with Möbius syndrome over the 10-year interval 1992-2001, all of whom manifested incomplete bilateral facial palsy. Associated limb and orofacial anomalies were observed in six cases. Computed tomographic scans were available in six children, and five of them manifested brainstem calcification which was most prominent in the floor of the fourth ventricle. The calcification was detected as early as 7 days of age and did not change with time, suggesting a static condition of prenatal onset. These observations support the hypothesis that the pathology in Möbius syndrome is secondary to prenatal brain ischemia.

Fever-induced dystonia.

The etiology of dystonia in children is often elusive. We report two children with fever-induced dystonia, an association which has not been previously reported. Both children had episodes of lower extremity dystonia with inversion of the feet and dorsiflexion of the great toes. Events began at 2 years of age, were preceded by febrile illness, and lasted for up to 24 hours. In both children, one of the parents had a history of similar but milder symptoms in childhood. Between spells the children were neurologically normal. Multiple investigations, including metabolic and imaging studies, were normal and therapies were ineffective. As the children aged the dystonic events occurred less frequently. This dystonic syndrome is a previously unrecognized benign episodic movement disorder of childhood.

Depression in parents of children with Duchenne muscular dystrophy.

This study examined depression, self-esteem, and mastery in the family caretakers of a group of males with Duchenne muscular dystrophy in comparison to a control group. A questionnaire based on the National Population Health Survey from Statistics Canada, a survey to collect information on the health of the Canadian population and related sociodemographic information, was conducted by telephone with 42 parents. The results were compared with the national data from the National Population Health Survey (1994 and 1999), matched for province of residence, number of children in the household, age, and marital status of the respondents. Parents of children with Duchenne muscular dystrophy had a higher probability of going through a major depressive episode and had significantly lower self-esteem and mastery scores than the national control group. None of the variables investigated (age, intelligence quotient, and ambulatory status of child or sex, age, and marital status of parent) could predict the depressive episode, with two exceptions. Parents without a partner had lower scores on the mastery scale, and parents of males older than 13 years of age were more likely to experience distress that interfered with life. It is incumbent on those caring for patients with Duchenne muscular dystrophy to counsel families regarding their potential to suffer a major depressive episode and to advise on appropriate therapy.