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.

Alice in wonderland and other migraine associated phenomena-evolution over 30 years after headache diagnosis.

BACKGROUND: The International Classification of Headache Disorders-III beta includes a number of episodic syndromes associated with migraine. Those who treat pediatric headaches are aware of a number of other phenomena (such as the Alice in Wonderland syndrome) which are thought to occur as precursors of migraine. There is no available data on the course of these phenomena over the decades following childhood headache diagnosis. METHODS: Patients who were observed by one of the authors in 1983 were contacted by telephone in 1993, 2003, and 2013. Details were gathered regarding the presence and characteristics of ongoing headaches and about the presence of sleepwalking, motion sickness, and distortions of either time or space perceptions. RESULTS: Twenty-eight patients were monitored in 1993, 2003, and 2013. Ongoing headaches were reported by 71%. Sleepwalking was only present in one patient in 2013. More than a third still complained of motion sickness, and more than one quarter still experienced distortions of time. Distortions of space were still reported by nearly 20%. Reporting any of these phenomena was not consistent over time, with some patients reporting distortions for the first time in adulthood. There was no clear correlation with migraine, and patients with tension-type headaches also reported the phenomena. CONCLUSIONS: Motion sickness and distortions of both space and time persist into the fifth decade for many patients initially observed with headaches in childhood. The correlation with migraine is less clear than previously thought.

The prognosis of pediatric headaches--a 30-year follow-up study.

BACKGROUND: Although headaches in childhood are common, there are few data available on their long-term prognosis. We have monitored a group of patients since diagnosis in 1983. METHODS: Patients who were part of the 20-year follow-up study in 2003 were contacted, and data were collected using a standardized telephone interview. Details of headache characteristics and identified precipitants and alleviating factors were gathered. The most effective means of controlling the headaches were also recorded. RESULTS: Follow-up was achieved for 28 of 60 patients (47%). Over the 30 years since diagnosis, eight patients (29%) reported a complete resolution of headaches, including three whose headaches resolved between the 20- and 30-year follow-up studies. The type of headache varied over the 30-year time interval with only three patients maintaining the same headache type at all four time periods of 1983, 1993, 2003, and 2013. Only one patient used prescription medication as the primary method for controlling headaches. The most commonly used intervention was nonprescription analgesia, self-relaxation and/or hypnosis, and precipitant avoidance. CONCLUSIONS: Headaches persist in approximately 70% of children 30 years after diagnosis. Encouraging children to manage their headaches with simple analgesia and precipitant avoidance appears to have long-term benefits.

What do patients and families want from a child neurology consultation?

Understanding what patients and their parents want is essential to plan appropriate patient-centered care. Questionnaires were distributed to 500 consecutive children and parents seen for their first pediatric neurology consultation. Both patients and their families answered questions about their expectations of the consultation, their level of worry, and the Penn State Worry Questionnaire. The 5 most important issues for the parents were to get information, to work with the doctor to manage the problem, to have questions answered, to find out what was wrong, and to discuss the impact on the child's life. The children had very similar priorities. The 5 least important concerns for parents were to get a prescription, blood tests, to talk to others with similar problems, to get a radiograph/computed tomography/magnetic resonance imaging (MRI) and to be told nothing is wrong. The pediatric neurologists did well in anticipating these priorities but had more difficulty appreciating parent and patient level of worry.

The impact of deflazacort on puberty in Duchenne muscular dystrophy.

BACKGROUND: The routine use of glucocorticoids has increased the longevity of patients with Duchenne muscular dystrophy. Long-term steroid therapy may have adverse effects on endocrine function and could influence the onset of puberty. METHODS: We assessed the pubertal development of our patients who were 14 years of age or older and had been treated with deflazacort as their only glucocorticoid. RESULTS: Half (6 of 12) of the boys who were treated with deflazacort had pubertal delay. There was no difference in the age of onset, dose, or duration of deflazacort therapy between those who did and did not have delayed puberty. CONCLUSIONS: This pilot study suggests that delayed puberty should be studied in future trials that address different doses and schedules of deflazacort therapy in Duchenne muscular dystrophy.

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.

Manganese toxicity in a child with iron deficiency and polycythemia.

A previously healthy 5-year-old girl presented with pica, emotional lability, and marked gait abnormalities. She had concurrent severe iron deficiency and polycythemia. Her magnetic resonance imaging (MRI) scan showed increased signal in the basal ganglia on T1-weighted images consistent with manganese neurotoxicity. Manganism was subsequently confirmed as her blood manganese levels were extremely elevated. Chelation therapy resulted in improvement in her mobility but she continues to have significant gait impairment. An epidemiological investigation identified well water as the potential source of manganese exposure for our patient, but to date, we have been unable to identify the nature of her neurotoxic susceptibility.

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.

Impact of bisphosphonates on survival for patients with Duchenne muscular dystrophy.

OBJECTIVE: In this article we describe the association of bisphosphonate therapy on survival within a regional cohort of patients with Duchenne muscular dystrophy (DMD) who received steroid therapy and were managed in a single center. PATIENTS AND METHODS: The records of all patients with confirmed DMD who were born between 1963 and 2006 and who had received at least 1 year of steroid therapy were reviewed from birth until they reached the study end points (death, loss to follow-up, or the last follow-up was in 2009). A survival analysis was used to account for the variable follow-up duration within this cohort. RESULTS: Forty-four boys from this cohort with DMD were exposed to continuous steroid use. Bisphosphonate therapy was initiated for 16 patients (36%) between 1997 and 2007 at a median age of 12.5 years (range: 7-23 years). At the time of the last follow-up in 2009, 13 patients had died (30%) at a median age of 16 years (range: 14-27 years). Survival curves demonstrate that the prescription of bisphosphonates was associated with a significant improvement in survival rate (P = .005, log-rank test). Furthermore, a possible therapy-duration effect could be shown for bisphosphonate use (P = .007, log-rank test). CONCLUSIONS: The treatment of patients with DMD with steroids and bisphosphonates seems to be associated with significantly improved survival compared with treatment with steroids alone.

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.

Concussion or mild traumatic brain injury: parents appreciate the nuances of nosology.

We explored whether parents of our pediatric patients valued the diagnostic terms "concussion," "minor traumatic brain injury," and "mild traumatic brain injury" as equivalent or nonequivalent. 1734 of 2304 parents attending a regional pediatric emergency department completed a brief questionnaire assessing the equivalence or nonequivalence of the diagnostic terms "concussion," "minor traumatic brain injury," and "mild traumatic brain injury" in a pairwise fashion. Many parents viewed these diagnostic terms as equivalent, when assessed side by side. For those who considered these diagnostic terms nonequivalent, concussion was regarded as considerably "better" (or less "worse") than minor traumatic brain injury (P < 0.001, χ(2) test) or mild traumatic brain injury (P < 0.001, χ(2) test). A moderate degree of variability was evident in parent/guardian responses. As a group, parents reported that concussion or mild/minor traumatic brain injuries are valued equivalently. However, many parents considered them different, with concussion reflecting a "better" (or less "worse") outcome.

Impact of steroids on surgical experiences of patients with duchenne muscular dystrophy.

We studied surgical experiences within a regional cohort of patients with Duchenne muscular dystrophy, managed at a single center. Records of all patients with confirmed Duchenne muscular dystrophy who were born after 1962 were reviewed from birth until they reached study endpoints: scoliosis surgery, Achilles tendon lengthening, cataract surgery, loss to follow-up, or final follow-up point in 2009. A survival analysis was used to account for the variable follow-up duration within this cohort. By the end of the study period, 28/80 (35.0%) of boys with Duchenne muscular dystrophy had undergone spinal surgery, 22/80 (27.5%) had experienced Achilles tendon lengthening, and 6/80 (7.5%) had had cataracts removed. Moreover, 56.8% of this cohort received steroid therapy (prednisone or deflazacort; 95% confidence interval, 43.3-68.8%). Boys who had received steroid therapy were significantly less likely to undergo spinal surgery (P = 0.001), but were subsequently more likely to require cataract surgery (P = 0.005). Achilles tendon lengthening did not seem related to medication exposure. The treatment of patients with Duchenne muscular dystrophy with steroids significantly modified their surgical experience.

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.

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.