Search

Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to treatment seizures, microcephaly and MRI findings consistent with polymicrogyria, closed-lip schizencephaly, periventricular heterotopia and a dysplastic corpus callosum. Exome sequencing identified a de novo missense variant in TUBG2, a gene not associated with human disease. The variant, NM_016437.3 c.747G>A p.(Met249Ile), is absent from available control databases and is predicated to be deleterious by in silico prediction programs. Laboratory studies show that cultured lymphoblasts derived from the patient grew significantly faster than controls. Recombinant protein was expressed (recombinant wild type and mutant TUBG2-FLAG) in 293T cells and lower levels of TUBG2 mutant compared with controls were observed. Furthermore, co-immuno-precipitation in cells transfected demonstrated that the TUBG2–GCP2 interaction is increased due to the MUT recombinant protein versus WT recombinant protein. In closing, this work provides preliminary evidence that TUBG2 may represent a novel disease gene responsible for polymicrogyria. [ABSTRACT FROM AUTHOR]

The article presents the Characterization of physical literacy in children with chronic medical conditions compared with healthy controls. Topics discussed include concept of physical literacy has emerged as a way to better identify factors necessary to support successful and on-going participation in physical activity; and it can be thought of as the child's capability for a healthy active lifestyle.

The article reports that A 16-year-old female presented to the Emergency Department with a tongue laceration. She was playfighting with her brother who swung a samurai sword and cut her tongue as she tried to dodge it. She denied headaches, constitutional symptoms, weakness, or loss of consciousness.

Background/Objective: Seizure monitoring via amplitude-integrated EEG is standard of care in many neonatal intensive care units; however, conventional EEG is the gold standard for seizure detection. We compared the diagnostic yield of amplitude-integrated EEG interpreted at the bedside, amplitude-integrated EEG interpreted by an expert, and conventional EEG. Methods: Neonates requiring seizure monitoring received amplitude-integrated EEG and conventional EEG in parallel. Clinical events and amplitude-integrated EEG were interpreted at bedside. Subsequently, amplitude-integrated EEG and conventional EEG were independently analyzed by experienced neonatology and neurology readers. Sensitivity and specificity of bedside amplitude-integrated EEG as compared to expert amplitude-integrated EEG interpretation and conventional EEG were evaluated. Results: Thirteen neonates were monitored for an average duration of 33 hours (range 15-94, SD 25). Fourteen seizure-like events were detected by clinical observation, and 12 others by bedside amplitude-integrated EEG analysis. One of the clinical, and none of the bedside amplitude-integrated EEG events were confirmed as seizures on conventional EEG. Post hoc expert amplitude-integrated EEG interpretation revealed eight suspected seizures, all different from the ones detected by the bedside amplitude-integrated EEG team, of which one was confirmed via conventional EEG. Eight seizures were recorded on conventional EEG. Expert amplitude-integrated EEG interpretation had a sensitivity of 13% with 46% specificity for individual seizure detection, and a sensitivity of 50% with 46% specificity for detecting patients with seizures. Conclusion: Real-world bedside amplitude-integrated EEG monitoring failed to detect all seizures evidenced via conventional EEG, while misclassifying other events as seizures. Even post hoc expert amplitude-integrated EEG interpretation provided limited sensitivity and specificity. Considering the poor sensitivity and specificity of bedside amplitude-integrated EEG interpretation, combined monitoring may provide limited clinical benefit. [ABSTRACT FROM AUTHOR]

Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease-gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identification of additional families, several groups have created 'matching' platforms. We describe four individuals from three unrelated families 'matched' by GeneMatcher and MatchMakerExchange. Individuals had microcephaly, developmental delay, epilepsy, and recessive mutations in TRIT1. A single homozygous mutation in TRIT1 associated with similar features had previously been reported in one family. The identification of these individuals provides additional evidence to support TRIT1 as the disease-causing gene and interprets the variants as 'pathogenic.' TRIT1 functions to modify mitochondrial tRNAs and is necessary for protein translation. We show that dysfunctional TRIT1 results in decreased levels of select mitochondrial proteins. Our findings confirm the TRIT1 disease association and advance the phenotypic and molecular understanding of this disorder. [ABSTRACT FROM AUTHOR]

Background: Pediatric residents must become proficient with performing a lumbar puncture (LP) during training. Residents have traditionally acquired LP skills by observing the procedure performed by a more senior resident or staff physician and then attempting the procedure themselves. This process can result in variable procedural skill acquisition and trainee discomfort. This study assessed changes in resident procedural skill and self-reported anxiety when residents were provided with an opportunity to participate in an interactive training session and practice LPs using a simulator. Methods: All pediatric residents at our institution were invited to participate. Residents were asked to report their post-graduate year (PGY), prior LP attempts and self-reported anxiety scores as measured by the standardized State-Trait Anxiety Inventory-State Anxiety Scale (STAI-S) prior to completing an observed pre-test using an infant-sized LP simulator. Staff physicians observed and scored each resident's procedural skill using a previously published 21-point scoring system. Residents then participated in an interactive lecture on LP technique and were given an opportunity for staff-supervised, small group simulator-based practice within 1 month of the pre-test. Repeat post-test was performed within 4 months. Results: Of the pediatric residents who completed the pre-test (N = 20), 16/20 (80 %) completed both the training session and post-test. Their PGY training level was: PGY1 (38 %), PGY2 (25 %), PGY3 (25 %) or PGY4 (12 %). Procedural skill improved in 15/16 residents (paired t-test; p < 0.001), driven by a significant improvement in skill for residents in PGY1 (P = 0.015) and PGY2 (p = 0.003) but not PGY3 or PGY4. Overall anxiety scores were higher at baseline than at post testing (mean ± SD; 44.8 ± 12.1 vs 39.7 ± 9.4; NS) however only PGY1 residents experienced a significant reduction in anxiety (paired t-test, p=0.04). Conclusion: LP simulation training combined with an interactive training session may be a useful tool for improving procedural competence and decreasing anxiety levels, particularly among those at an earlier stage of residency training. [ABSTRACT FROM AUTHOR]

Background: Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features. Here we present 2 individuals with novel mutations in DYRK1A, and a review of the cases reported to date. Case presentation: Both individuals presented with the well-known characteristic features, as well as rarer anomalies seen in a minority of patients. Patient 1 presented shortly after birth with an enlarged cisterna magna, distal contractures, and distinctive facies that included bitemporal narrowing and deep set eyes. A de novo splice site mutation in DYRK1A [c.951 + 4_951 + 7delAGTA; p.Val222Aspfs*22] was identified by next generation sequencing. Patient 2 presented at 7 months of age with microcephaly and dysmorphic features. She went several years without a diagnosis until a de novo DYRK1A nonsense mutation [c.787C>T; p.(Arg263*)] was identified at age 12. These individuals, and the 52 cases reviewed from the literature, show the characteristic features of the DYRK1A-related syndrome including global developmental delay, ID, microcephaly, feeding difficulties, and the facial gestalt. Other common findings include seizures, vision defects, brain abnormalities and skeletal abnormalities of the hands and feet. Less common features include optic nerve defects, contractures, ataxia, and cardiac anomalies. Conclusion: DYRK1A testing should be considered in individuals with the facial features, intellectual disability and post-natal microcephaly. Once diagnosed with DYRK1A-related intellectual disability, a cardiac and ophthalmologic assessment would be recommended as would routine surveillance by a pediatrician for psychomotor development, growth, and feeding. [ABSTRACT FROM AUTHOR]

Copyright of CJEM: Canadian Journal of Emergency Medicine is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We sought to determine public perception surrounding Tourette syndrome through viewers’ responses to videos on YouTube. The top 20 videos on YouTube for search terms Tourette’s, Tourette’s syndrome, Tourettesyndrome and tics were selected. The portrayal of Tourette syndrome was assessed as positive, negative, or neutral. Top 10 comments for each video were graded as “sympathetic,” “neutral,” or “derogatory.” A total of 14 970 hits were obtained and 41 videos were retained, with an average of 590 113 views (1369 to 13 747 069) and 1761 comments (0 to 35 241). Twenty-two percent of videos retained portrayed Tourette syndrome negatively, 20% were neutral and 59% positive. Negative portrayals were significantly associated with more views (Spearman correlation rho = –.46, P =.003) and comments (Spearman correlation rho = –.47, P = .002). Although excellent examples of Tourette syndrome are available on YouTube, the popularity of negative portrayals may reinforce existing stigma in society. [ABSTRACT FROM AUTHOR]

The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed. [ABSTRACT FROM AUTHOR]

This report describes a case of Hashimoto encephalopathy in an 11-year-old girl. She presented with features typical of this disorder including encephalopathy, seizures, and neuropsychiatric symptoms. Diagnosis was supported by an elevated thyroid-stimulating hormone level, a low levothyroxine level, and positive results for antithyroperoxidase antibody. Her response to typical treatment with levo-thyroxine was incomplete, requiring additional therapy with valproic acid and methylprednisone. Her course was further complicated by the development of acute psychosis. Treatment with risperidone was correlated with resolution of her psychosis and improvement in neuropsychiatric symptoms. Response to antipsychotic therapy has not previously been described in the pediatric population with Hashimoto encephalopathy. This case highlights the need for guidelines for the management of this rare disorder. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 10-year-old girl diagnosed from acute paralysis. Topics discussed include the acute onset of lower extremity paresthesia and altered bladder function experienced by the girl following a long jump performance in her school, magnetic resonance imaging (MRI) which reveals spinal cord infarction, and administration of high-dose intravenous steroids and low-dose acetylsalicylic acid.

The article presents a case study of a teenage girl who presented with history of right foot drop and numbness and anterolateral aspect of the lower limb. Clinical tests resulted in a preliminary diagnosis of peroneal mononeuropathy. Denervation changes were revealed by electromyography of the tibialis anterior muscle.

Abstract: Hashimoto’s encephalopathy is diagnosed when patients exhibit features of corticosteroid-responsive encephalopathy and positive antithyroid antibodies. The relationship between antithyroid antibodies and encephalopathy is subject to considerable debate. We describe corticosteroid-responsive encephalopathy in a 14-year-old boy with positive antimicrosomal antibodies. His history included subtle neurocognitive decline. He presented with seizures. He underwent a brain biopsy before initiating treatment after his third episode. That biopsy was consistent with central nervous system vasculitis. This report is unique because, to our knowledge, it describes the first pretreatment brain biopsy of a pediatric patient who fits the criteria for Hashimoto’s encephalopathy. [Copyright &y& Elsevier]

Up to 30% of children with epilepsy show a poor therapeutic response to pharmacologic treatment. Ketogenic diets, including the less strict low glycemic index treatment (LGIT), may improve seizure control in pharmacoresistant epilepsy. However, little is known about the quality of life (QoL) in children on LGIT. To explore psychosocial implications of the LGIT on pediatric patients and their caregivers, we have conducted a pilot study to explore the QoL of children and adolescents on the diet. Pediatric patients on LGIT and their parents completed standardized, validated QoL questionnaires (Pediatric Quality of Life Epilepsy Module), one retrospectively and one while being on LGIT. An additional questionnaire included two open-ended questions in order to gain a better understanding of personal experiences of families. We enrolled six patients with epilepsy on LGIT between the age of 3 and 13 years. Self-reported QoL decreased in all adolescents, regardless of improvement in seizure control. Parent-reported QoL improved in three of six participants, remained stable in one, and decreased in two patients (both displayed no seizure improvement). Parents and adolescents reported positive experiences of trying new foods and being more health conscious, as well as negative themes such as social isolation and meal preparation difficulties. The lack of improvement in patient-reported QoL points towards an overall negative impact of the LGIT on patient well-being, despite positive effects on seizure control. Our preliminary results indicate that the benefits of seizure control may subjectively be outweighed by adverse social effects of the LGIT. Families should be made aware of psychosocial risks of the diet. Whenever possible, children should be part of the therapeutic decision-making process. Larger prospective studies are required to fully assess the overall impact of the LGIT. • The low glycemic index diet led to > 50% reduction in seizures in 50% of children. • Self-reported quality of life decreased in all children while on the diet. • However, parental-reported quality of life improved in some children on the diet. • Positive themes were new foods, health benefits, and collaborative meal preparation. • Negative themes were social impacts, isolation, and preparation difficulties. [ABSTRACT FROM AUTHOR]

Background: Physical literacy is a concept used to describe the combined physical, affective and cognitive capacities facilitating an active lifestyle. Physical activity participation is essential for children living with chronic medical conditions, but knowledge of physical literacy among this group is scarce., Methods: An explanatory, sequential mixed methods design was used to comprehensively describe the physical literacies of children with chronic medical conditions (CMCs). Participants were recruited from paediatric cardiology, respirology/cystic fibrosis, neurology, haematology and endocrinology outpatient clinics. All participants completed the Canadian Assessment of Physical Literacy (2nd Edition), and those with higher and lower scores were invited to a semi-structured interview. A deductive-inductive thematic analysis was applied using Margaret Whitehead's conceptualization of physical literacy., Results: Using normative strata, 80.0% of the 99 children assessed (mean age = 9.97 ± 1.3 years, 48% girls) were considered beginning or progressing in their overall physical literacy (mean score = 56.5 ± 13.8/100). Meanwhile, physical literacy informed participants' approach to new, active experiences and may have contributed to a strong sense of self. There was a significant difference between endocrinology and haematology patients on total physical literacy score (p = 0.03) but not domain scores. Participants scored high on motivation/confidence (mean = 22.9 ± 5.0/30) but obtained low physical competence (mean = 11.8 ± 5.6/30) and daily behaviour scores (n = 72, mean = 15.5 ± 7.1/30). Main themes represent salient experiences of children with CMCs within the domains of physical literacy, including their need to evaluate active contexts, self-regulate activity intensity and manage physical limitations., Conclusions: Children with CMCs can achieve recommended levels of physical literacy without meeting normative standards for physical competence. Participants would benefit from a physical literacy intervention that targets the development of bodily self-regulation skills and risk evaluation in active settings., (© 2024 The Author(s). Child: Care, Health and Development published by John Wiley & Sons Ltd.)

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy., Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician., Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike-wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype-phenotype relationship even between individuals with the same DLG4 variants., Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG., (© 2023 International League Against Epilepsy.)

Purpose: This study evaluated screening tasks able to identify children with medical conditions or disabilities who may benefit from physical literacy., Method: Children completed ≤20 screening tasks during their clinic visit and then the Canadian Assessment of Physical Literacy (2nd edition) at a separate visit. Total Canadian Assessment of Physical Literacy scores <30th percentile were categorized as potentially needing physical literacy support. Receiver operator characteristic curves identified assessment cut points with 80% sensitivity and 40% specificity relative to total physical literacy scores., Results: 223 children (97 girls; 10.1 [2.6] y) participated. Physical activity adequacy, predilection, and physical competence achieved ≥80% sensitivity and ≥40% specificity in both data sets. Adequacy ≤ 6.5 had 86% to 100% sensitivity and 48% to 49% specificity. Daily screen time >4.9 hours combined with Adequacy ≤6.15 had 88% to 10% sensitivity and 53% to 56% specificity., Conclusions: Activity adequacy, alone or with screen time, most effectively identified children likely to benefit from physical literacy support. Adequacy and screen time questionnaires are suitable for clinical use. Similar results regardless of diagnosis suggest physical competence deficits are not primary determinants of active lifestyles. Research to enhance screening specificity is required.

Rationale: Glucose transporter type I deficiency syndrome (GLUT1-DS) is the fourth most frequent single-gene epilepsy refractory to standard antiepileptic drugs. Multiple seizure types and variable electrographic findings are reported. Ketogenic diet is expected to result in the complete resolution of the epileptiform activity., Methods: A retrospective chart review of patients with GLUT1-DS on ketogenic diet between December 2012 and February 2022 was done. Analysis of the EEGs prior to and during the ketogenic diet was done., Results: 34 patients on ketogenic diet were reviewed. Ten had clinical diagnosis of GLUT1-DS, and seven of them had genetic confirmation. 71% were female. The average age at seizure onset was 13.85 m.o. (range: 3-60, SD ±20.52), at diagnosis was 44.57 m.o (range: 19-79), and at the onset of ketogenic diet was 46.43 m.o. (range: 20-83). 29 months (range: 13-38) delay between symptoms onset until diagnosis was noticed. At the diagnosis 100% reported seizures: 71% myoclonic, 57% generalized motor, 57% absence, 28% atonic, and 14% focal motor. Also, 71% abnormal eye movements, 57% ataxia, and 28% intolerance to fasting. 86% had normal brain MRI. 71% had abnormal EEG. All were on ketogenic diet, and four on classical (1.75:1-2.25:1 ratio). Six were clinically seizure-free after the ketogenic diet. EEG features included notch delta, focal spike and wave, and generalized spike/polyspike and wave. One patient had bilateral independent centrotemporal spikes. Spikes showed high and very high amplitude in all of them (>200 μV). The variation of the spike index decreased in three patients but increased in two., Conclusion: Ketogenic diet is the choice treatment for patients with GLUT1-DS. Electrographic features could show worsening after initiation of the ketogenic diet even with seizure control. EEG did not prove to be a reliable tool for adjusting KD in our cohort. Centrotemporal spikes have not been reported in patients with GLUT-1 DS., (© 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

We present five cases of pediatric drug-resistant epilepsy (DRE) that failed management using high cannabidiol (CBD) doses, but had significant reduction in seizure frequency with reintroduction or increasing doses of tetrahydrocannabinol (THC). There is growing evidence supporting the use of whole-plant CBD-rich extracts (containing THC and other cannabinoids) in the treatment of pediatric DRE. Based on our experiences and reports in the literature, we propose that, in patients who fail management with an initial trial of high-dose CBD-focused therapy, there may be a role for add-on THC-focused formulations.

Background: The study of the use of cannabis for therapeutic purposes in the pediatric population is increasing, yet data on efficacy and safety are limited. Characterization of pediatric cannabis use for therapeutic purposes will improve understanding of the circumstances under which it occurs and the associated outcomes., Objective: To describe the use of cannabis for therapeutic purposes, regardless of authorization, in a pediatric tertiary teaching hospital., Methods: A retrospective chart review was completed for patients 18 years of age or younger who used cannabis for therapeutic purposes, regardless of authorization, between May 1, 2014, and May 1, 2017. Patients whose cannabis use was documented as recreational were excluded., Results: In total, 300 patients were identified, of whom 37 met the inclusion criteria. Of these, 30 patients had documentation of medically supervised cannabis use. Most were using cannabis for seizures ( n = 28), and many of these ( n = 23) were patients with seizures described as intractable or refractory. Of the 27 patients who were experiencing seizures at initiation of medical cannabis, 21 had documentation of a decrease in seizure frequency. This decrease was transient for 16 patients, with a mean duration of 130.4 days (standard deviation 99.1 days). Seven patients self-medicated with cannabis. They obtained cannabis without authorization and used it for chronic pain ( n = 5) and/or anxiety ( n = 5)., Conclusions: Medically supervised cannabis use occurred most often in patients with intractable or refractory seizures. According to these data, seizure response is variable, and initial decreases may be transient for pediatric patients using cannabis. To ensure greater consistency and rigour in the conduct of prospective research and thus to generate better-quality research on the therapeutic effects of medical cannabis, development of a standardized care record is needed., Competing Interests: Competing interests: None declared., (2020 Canadian Society of Hospital Pharmacists. All content in the Canadian Journal of Hospital Pharmacy is copyrighted by the Canadian Society of Hospital Pharmacy. In submitting their manuscripts, the authors transfer, assign, and otherwise convey all copyright ownership to CSHP.)

Background: Continuous EEG monitoring, in the form of amplitude-integrated (aEEG) or conventional EEG (cEEG), is used in the neonatal intensive care unit (NICU) to detect subclinical central nervous system pathologies, inform management, and prognosticate neurodevelopmental outcomes. To learn more about provider attitudes and current practices in Canada, we evaluated neurologist and neonatologist opinions regarding NICU EEG monitoring., Methods: A 15-item electronic questionnaire was distributed to 114 pediatric neurologists and 176 neonatologists working across 25 sites., Results: The survey was completed by 87 of 290 physicians. Continuous EEG monitoring is utilized by 97% of pediatric neurologists and 92% of neonatologists. Neurologists and neonatologists differ in their EEG monitoring preferences. For seizure detection and diagnosis of encephalopathy, significantly more neonatologists favor aEEG alone or in combination with cEEG, whereas most neurologists prefer cEEG (p = 0.047, 0.001). There is a significant difference in the perceived gaps in monitoring patients with cEEG between neonatologists (13% would monitor more) and neurologists (41% would monitor more) (p = 0.007). Half of all respondents (53%) reported that they would be interested in attending an education session on neonatal EEG monitoring., Conclusions: Canadian neurologists and neonatologists do not agree on the best monitoring approach for critically ill neonates. Furthermore, neonatologists perceive a smaller cEEG monitoring gap as compared with neurologists. However, many participants from both specialties would like to increase long-term EEG monitoring in the NICU setting. Facilitating access to EEG monitoring and enhancing education may help to address these needs.

Background: Champlain BASE™ (Building Access to Specialists through eConsultation) is a web-based asynchronous electronic communication service that allows primary-care- practitioners (PCPs) to submit "elective" clinical questions to a specialist. For adults, PCPs have reported improved access and timeliness to specialist advice, averted face-to-face specialist referrals in up to 40% of cases and high provider satisfaction., Objective: To determine whether the expansion of eConsult to a pediatric setting would result in similar measures of improved healthcare system process and high provider acceptance reported in adults., Design: Prospective observational cohort study., Setting: Single Canadian tertiary-care academic pediatric hospital (June 2014-16) servicing 1.2 million people., Participants: 1. PCPs already using eConsult. 2.Volunteer pediatric specialists provided services in addition to their regular workload. 3.Pediatric patients (< 18 years-old) referred for none-acute care conditions., Main Outcomes and Measures: Specialty service utilization and access, impact on PCP course-of-action and referral-patterns and survey-based provider satisfaction data were collected., Results: 1064 eConsult requests from 367 PCPs were answered by 23 pediatric specialists representing 14 specialty-services. The top three specialties represented were: General Pediatrics 393 cases (36.9%), Orthopedics 162 (15.2%) and Psychiatry 123 (11.6%). Median specialist response time was 0.9 days (range <1 hour-27 days), most consults (63.2%) required <10minutes to complete and 21/21(100%) specialist survey-respondents reported minimal workload burden. For 515/1064(48.4%) referrals, PCPs received advice for a new or additional course of action; 391/1064(36.7%) referrals resulted in an averted face-to-face specialist visit. In 9 specialties with complete data, the median wait-time was significantly less (p<0.001) for an eConsult (1 day, 95%CI:0.9-1.2) compared with a face-to-face referral (132 days; 95%CI:127-136). The majority (>93.3%) of PCPs rated eConsult as very good/excellent value for both patients and themselves. All specialist survey-respondents indicated eConsult should be a continued service., Conclusions and Relevance: Similar to adults, eConsult improves PCP access and timeliness to elective pediatric specialist advice and influences their care decisions, while reporting high end-user satisfaction. Further study is warranted to assess impact on resource utilization and clinical outcomes.

We report the case of an infant with KCNQ2-related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. Continuous EEG recordings starting on the sixth day of life demonstrated a unique pattern of inter-and postictal focal rhythmic pointed theta waves of lambdoid morphology in the immediate postictal period, localizing to the side of the antecedent seizure. Interictal EEG exhibited discontinuous background, including patterns of burst suppression and multifocal discharges, predominantly in the centrotemporal regions, which were aggravated during sleep. MRI demonstrated T1 signal abnormalities in the basal ganglia, bilaterally. Genetic testing revealed a de novo missense mutation in KCNQ2 at position c.545 T>G, encoding a previously unreported substitution (p.Val182Gly). Seizure control was achieved immediately after starting a lidocaine infusion at age 4 weeks. The patient remained largely seizure-free following add-on oral carbamazepine for maintenance therapy and weaning off lidocaine. This is the first report of a patient with KCNQ2-related neonatal epileptic encephalopathy and therapy-refractory seizures aborted by lidocaine, demonstrating a unique EEG pattern of inter- and postictal focal rhythmic pointed theta waves. Whether this pattern could be an early EEG marker for this disorder remains to be confirmed. [Published with video sequences on www.epilepticdisorders.com].

Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control and the maintenance of cellular respiration. In dividing mitochondria, membrane scission is accomplished by a dynamin-related GTPase, DNM1L, that oligomerizes at the site of fission and constricts in a GTP-dependent manner. There is only a single previous report of DNM1L-related clinical disease: a female neonate with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF; OMIM #614388), a lethal disorder characterized by cerebral dysgenesis, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. Here, we describe a second individual, diagnosed via whole-exome sequencing, who presented with developmental delay, refractory epilepsy, prolonged survival, and no evidence of mitochondrial or peroxisomal dysfunction on standard screening investigations in blood and urine. EEG was nonspecific, showing background slowing with frequent epileptiform activity at the frontal and central head regions. Electron microscopy of skeletal muscle showed subtle, nonspecific abnormalities of cristal organization, and confocal microscopy of patient fibroblasts showed striking hyperfusion of the mitochondrial network. A panel of further bioenergetic studies in patient fibroblasts showed no significant differences versus controls. The proband's de novo DNM1L variant, NM&#95;012062.4:c.1085G>A; NP&#95;036192.2:p.(Gly362Asp), falls within the middle (oligomerization) domain of DNM1L, implying a likely dominant-negative mechanism. This disorder, which presents nonspecifically and affords few diagnostic clues, can be diagnosed by means of DNM1L sequencing and/or confocal microscopy.

Introduction: Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) remains a controversial diagnosis and it is unclear how frequently it is encountered in clinical practice. Our study aimed to determine how many children with acute-onset tics and/or Obsessive-Compulsive Disorder (OCD) met criteria for PANDAS., Materials and Methods: A retrospective review was performed on 39 children who presented to a movement disorders clinic with acute-onset tics or OCD from 2005 to 2012., Results: Out of 284 patients seen over the course of 7 years, only 39 had acute-onset tics and/or OCD symptoms. None of the 39 children who presented to us acutely met full criteria for PANDAS. Thirty-eight percent had no association between their symptoms and group A beta-hemolytic streptococcal infection, while 54% had prior inconclusive laboratory testing done and no exacerbations during the course of the study. Only 8% of patients had an acute exacerbation after their initial visit; however, testing for GAHBS in these patients was negative Discussion: Our results support the notion that PANDAS, if it exists, is an exceedingly rare diagnosis encountered in a pediatric movement disorder clinic. While none of our patients met criteria for PANDAS, two with acute-onset OCD would have met criteria for pediatric acute-onset neuropsychiatric syndrome (PANS) indicating that PANS may be a more appropriate diagnosis.

The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed.

Objective: To evaluate the educational effectiveness of a novel, web-based neuroanatomical localization application., Methods: A prototype version of a neuroanatomical localization application was developed, limited to lesions involving Cranial Nerve (CN) VII. Second year medical students at the University of Ottawa were recruited to participate in the study. Participants were exposed to a didactic teaching session on CN VII anatomy. They were subsequently randomized to two groups - one group was granted access to the localization application (the "intervention group"), while the other group was given a booklet of standard textbook resources (the "control group"). Participants then completed a case-based multiple choice test on localization of neurologic lesions associated with CN VII, followed by a questionnaire regarding the experience., Results: Thirty-nine students volunteered to participate. Twenty were randomized to the intervention group and 19 to the control group. There was a mean test score difference of 1.3 (CI.95=0.2, 2.3) that was significantly higher in the intervention group when compared to the control group. Significance was determined by a Wilcoxon rank test (p=0.028). Questionnaire results were similar for both groups, showing an overall favourable evaluation of the localization application., Conclusions: The results support our hypotheses that students using the application would perform better on the multiple choice question (MCQ) test and there would be an overall preference for its use. The demonstrated educational benefit of the application, in addition to the demand for such a resource expressed by the participants, warrant further investigation into the development of a neurological localization application.

Functional magnetic resonance imaging (fmri) is a non-invasive functional brain mapping technique ased on blood oxygenated level dependent signal (BOLD). It is obtained during T2* weighted imaging MRI studies. fmri aids in the localization of language and motor function for patients candidates for epilepsy surgery, and has up to a 90% concordance with WADA test. Even though synchronous recording of fmri and EEG is technically challenging, it shows a discordant pattern of activation when compared with EEG or electrocorticography. This finding could be due to complex epileptic networks, and overall this study technique has the potential to contribute to further research into epileptic network and epilepsy physiopathology.