Publications by authors named "Asif Doja"

53 Publications

Bibliometric Analysis of Neurology Articles Published in General Medicine Journals.

JAMA Netw Open 2021 Apr 1;4(4):e215840. Epub 2021 Apr 1.

Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Importance: A significant portion of neurology literature is published in general medicine journals. Despite this, a detailed examination of publication patterns of neurology articles in these journals has not yet been carried out.

Objective: To examine the publication patterns of neurology articles in general medicine journals during a 10-year period using a bibliometric approach.

Design, Setting, And Participants: This cross-sectional bibliometric analysis identified the top 5 general medicine journals using the 2017 Journal Citations Report. Four other medical subspecialties (ie, immunology, endocrinology, gastroenterology, and pulmonology) were selected for comparison of publication patterns with neurology. Using MEDLINE, the 5 journals were searched for articles published between 2009 and 2018 that were indexed with the following MeSH terms: nervous system diseases, immune system diseases, endocrine system diseases, gastrointestinal diseases, and respiratory tract diseases. Data analysis was conducted from February 2019 to December 2020.

Main Outcomes And Measures: Publications were characterized by journal, specialty, and study design. These variables were used for comparison of publication numbers.

Results: The general medicine journals with the 5 highest journal impact factors (JIF) were New England Journal of Medicine (NEJM; JIF 79.3), Lancet (JIF 53.3), JAMA (JIF 47.7), BMJ (JIF 23.6), and PLOS Medicine (JIF 11.7). Our bibliometric search yielded 3719 publications, of which 1098 (29.5%) were in neurology. Of these 1098 neurology publications, 317 (28.9%) were published in NEJM, 205 (18.7%) in Lancet, 284 (25.9%) in JAMA, 214 (19.5%) in BMJ, and 78 (7.1%) in PLOS Medicine. Randomized clinical trials were the most frequent neurology study type in general medicine journals (519 [47.3%]). The number of publications in each of the other specialties were as follows: immunology, 817; endocrinology, 633; gastroenterology, 353; and pulmonology, 818.

Conclusions And Relevance: The results of this study provide some guidance to authors regarding where they may wish to consider submitting their neurology research. Compared with other specialties, neurology-based articles are published more frequently in general medicine journals.
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http://dx.doi.org/10.1001/jamanetworkopen.2021.5840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8050738PMC
April 2021

Characterization of physical literacy in children with chronic medical conditions compared to healthy controls: a cross-sectional study.

Appl Physiol Nutr Metab 2021 Mar 9. Epub 2021 Mar 9.

Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

To determine the physical literacy, defined as the capability for a physically active lifestyle, of children with medical conditions compared with healthy peers, this multicenter cross-sectional study recruited children with medical conditions from cardiology, neurology (including concussion), rheumatology, mental health, respirology, oncology, hematology, and rehabilitation (including cerebral palsy) clinics. Participants aged 8-12 years (N=130; mean age: 10.0±1.44 years; 44% female) were randomly matched to three healthy peers from a normative database, based on age, sex, and month of testing. Total physical literacy was assessed by the Canadian Assessment of Physical Literacy, a validated assessment of physical literacy measuring physical competence, daily behavior, knowledge/understanding, and motivation/confidence. Total physical literacy mean scores(/100) did not differ (t(498)=-0.67; p=0.44) between participants (61.0±14.2) and matched healthy peers (62.0±10.7). Children with medical conditions had lower mean physical competence scores (/30; -6.5 [-7.44, -5.51]; p<0.001) but higher mean motivation/confidence scores (/30; 2.6 [1.67, 3.63]; p<0.001). Mean daily behavior and knowledge/understanding scores did not differ from matches (/30; 1.8 [0.26, 3.33]; p=0.02; /10; -0.04 [-0.38, 0.30]; p=0.81; respectively). Children with medical conditions are motivated to be physically active but demonstrate impaired movement skills and fitness, suggesting the need for targeted interventions to improve their physical competence. Novelty bullets: • Physical literacy in children with diverse chronic medical conditions is similar to healthy peers • Children with medical conditions have lower physical competence than healthy peers, but higher motivation and confidence • Physical competence (motor skill, fitness) interventions, rather than motivation or education, are needed for these youth.
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http://dx.doi.org/10.1139/apnm-2020-0957DOI Listing
March 2021

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.

Ann Clin Transl Neurol 2020 12 4;7(12):2467-2474. Epub 2020 Dec 4.

Baylor College of Medicine/Texas Children's Hospital, Houston, Texas, USA.

Febrile-infection related epilepsy syndrome (FIRES) is a devastating neurological condition characterized by a febrile illness preceding new onset refractory status epilepticus (NORSE). Increasing evidence suggests innate immune dysfunction as a potential pathological mechanism. We report an international retrospective cohort of 25 children treated with anakinra, a recombinant interleukin-1 receptor antagonist, as an immunomodulator for FIRES. Anakinra was potentially safe with only one child discontinuing therapy due to infection. Earlier anakinra initiation was associated with shorter duration of mechanical ventilation, ICU and hospital length of stay. Our retrospective data lay the groundwork for prospective consensus-driven cohort studies of anakinra in FIRES.
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http://dx.doi.org/10.1002/acn3.51229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732241PMC
December 2020

Varying perceptions of the role of "nurse as teacher" for medical trainees: A qualitative study.

Perspect Med Educ 2021 Mar 3;10(2):88-94. Epub 2020 Dec 3.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Introduction: The informal curriculum-an essential complement to the formal curriculum-is delivered to medical trainees through learning outside the classroom. We sought to explore nurse-mediated aspects of trainee education in the informal curriculum in obstetrics and gynecology (OBGYN), as well as nursing perceptions of their role in medical trainee education.

Methods: Naturalistic, non-participant observations (40 h) were performed on a tertiary care birthing unit (BU) to document teaching and learning interactions. Insights gleaned from observations informed subsequent semi-structured interviews with BU nurses (n = 10) and focus group discussions with third-year medical students who had completed an OBGYN rotation (n = 10). Thematic analysis was conducted across data sets.

Results: Conceptions of nurse-mediated education differed considerably between nurses and trainees. Nurses were widely acknowledged as gatekeepers and patient advocates by both groups, although this role was sometimes perceived by trainees as impacting on learning. Interest and engagement were noted as mediators of teaching, with enhanced access to educational opportunities reported by trainees who modelled openness and enthusiasm for learning. Nurse-driven education was frequently tailored to the learner's level, with nurses feeling well positioned to share procedural knowledge or hard skills, soft skills (i.e. bedside manners), and clinical insights gained from bedside practice.

Discussion: Nurses are instrumental in the education of medical trainees; however, divergence was noted in how this role is enacted in practice. Given the valuable teaching resource BU nurses present, more emphasis should be placed on interprofessional co-learning and the actualization of this role within the informal curriculum.
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http://dx.doi.org/10.1007/s40037-020-00632-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952473PMC
March 2021

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Brain 2020 12;143(11):3242-3261

Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5-37.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke Fahn Marsden's Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002 and P = 0.012). At 1 year post-deep brain stimulation, >50% of subjects showed BFMDRS-M and BFMDRS-D improvements of >30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for >5 years, n = 8), improvement of >30% was maintained in 5/8 and 3/8 subjects for the BFMDRS-M and BFMDRS-D, respectively. The greatest BFMDRS-M improvements were observed for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystonia. Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last assessment; no patient maintained a fully independent gait. Reduction of BFMDRS-D was maintained for swallowing (52.9%). Five patients developed mild parkinsonism following deep brain stimulation. KMT2B-related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.
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http://dx.doi.org/10.1093/brain/awaa304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719027PMC
December 2020

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Child Neurol Open 2020 Jan-Dec;7:2329048X20934914. Epub 2020 Jun 19.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada.

Exposure to n-hexane or toluene-containing solvents such as glue or gasoline can produce clinical symptoms and neurophysiological findings that can mimic chronic inflammatory demyelinating polyneuropathy. The authors present a case of a boy with severe sensorimotor polyneuropathy with demyelinating features. Cerebrospinal fluid testing and magnetic resonance imaging spine did not show findings typical of chronic inflammatory demyelinating polyneuropathy. His lack of response to immunosuppressive therapy prompted a nerve biopsy which was instrumental in confirming a diagnosis of chronic organic solvent exposure, subsequently confirmed on history. This case highlights the importance of additional testing to ensure diagnostic certainty which allows appropriate treatment and/or disease management to be tailored appropriately including in this instance, the involvement of mental health counseling and avoidance of immunosuppressant medication.
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http://dx.doi.org/10.1177/2329048X20934914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307582PMC
June 2020

Physical activity, sleep and neuropsychiatric symptom severity in children with tourette syndrome.

Eur Child Adolesc Psychiatry 2021 May 5;30(5):711-719. Epub 2020 May 5.

Department of Clinical Neurosciences, University of Calgary, Calgary, Canada.

The purpose of this study was to examine associations between physical activity, sleep and symptom severity in children with tic disorders. Children with tic disorders wore the GeneActiv device, a wrist-worn accelerometer that measures physical activity intensity and sleep/wake parameters continuously for seven days, and completed questionnaires on sleep quality, exercise and severity of tics, ADHD, obsessive-compulsive behaviours, anxiety and depression. 110 children participated in the study. Children with more severe tics had significantly more frequent comorbid diagnoses, greater impairment in subjective sleep measures, greater sedentary activity time and less light, moderate and vigorous activity time (all p < 0.05). There was a significant negative correlation between light, moderate and vigorous physical activity and the severity of tics (- 0.22, p = 0.04), obsessive compulsive behaviours (- 0.22, p = 0.03), anxiety (- 0.35, p = 0.0005) and depression (- 0.23, p = 0.03). There was no correlation between objective sleep time, sleep efficiency and symptom severity. Subjective sleep quality was positively correlated with all symptom severity measures, with the strongest correlation with ADHD severity (0.42, p < 0.00001). The results of this observational study indicate a small, but significant relationship between activity and sleep measures and the severity of the main symptom domains present in tic disorders.
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http://dx.doi.org/10.1007/s00787-020-01552-1DOI Listing
May 2021

Myths in medicine: How did we get here?

Med Educ 2020 01;54(1):13-14

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1111/medu.14024DOI Listing
January 2020

An 8-year-old boy with ataxia and abnormal movements.

Paediatr Child Health 2019 Aug 26;24(5):297-298. Epub 2018 Dec 26.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario.

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http://dx.doi.org/10.1093/pch/pxy178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656948PMC
August 2019

Pediatric Neurology Workforce in Canada: A 5-Year Update.

Can J Neurol Sci 2019 09 26;46(5):566-574. Epub 2019 Jul 26.

Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.

Background: In 2013, a task force was developed to discuss the future of the Canadian pediatric neurology workforce. The consensus was that there was no indication to reduce the number of training positions, but that the issue required continued surveillance. The current study provides a 5-year update on Canadian pediatric neurology workforce data.

Methods: Names, practice types, number of weekly outpatient clinics, and dates of certification of all physicians currently practicing pediatric neurology in Canada were obtained. International data were used to compute comparisons between countries. National data sets were used to provide information about the number of residency positions available and the number of Canadian graduates per year. Models for future projections were developed based on published projected population data and trends from the past decade.

Results: The number of pediatric neurologists practicing in Canada has increased 165% since 1994. During this period, wait times have not significantly shortened. There are regional discrepancies in access to child neurologists. The Canadian pediatric neurology workforce available to see outpatient consultations is proportionally less than that of USA. After accounting for retirements and emigrations, the number of child neurologists being added to the workforce each year is 4.9. This will result in an expected 10-year increase in Canadian pediatric neurologists from 151 to 200.

Conclusions: Despite an increase in the number of Canadian child neurologists over the last two decades, we do not predict that there will be problems with underemployment over the next decade.
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http://dx.doi.org/10.1017/cjn.2019.229DOI Listing
September 2019

Perceptions of competency-based medical education from medical student discussion forums.

Med Educ 2019 07 28;53(7):666-676. Epub 2019 Jan 28.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Background: Competency-based medical education (CBME) is becoming widely implemented in medical education. Trainees' perceptions of CBME are important factors in the implementation and acceptance of CBME. Online discussion groups allow unique insight into trainees' perceptions of CBME during residency training.

Methods: We analysed 867 posts from 20 discussion threads in Premed 101 (Canadian) and 2756 posts from 50 threads in Student Doctor Network (SDN) (American) using NVivo 11. Inductive content analysis was used to develop a data-driven coding scheme that evolved throughout the analysis. Measures were taken to ensure the trustworthiness of findings, including co-coding of a subsample of 600 posts, peer debriefing, consensus-based analytical decision making and the maintenance of an audit trial.

Results: Medical residents and students participating in the discussion forums emphasised select themes regarding the implementation of CBME in residency training. Concerns about CBME in Canada primarily involved its implications for the length of residency and post-residency opportunities. Posts on the American forum had a prominent focus on differing areas, such as the subjectivity in the assessment of core competencies and the role of CBME in termination of a resident's position.

Conclusions: Online discussion groups have the potential to provide unique insight into perceptions of CBME. The presented concerns may have implications for refining the model of CBME and illustrate the importance of providing clarification for trainees regarding length of training and evaluation structures from those involved in designing of CBME programmes.
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http://dx.doi.org/10.1111/medu.13803DOI Listing
July 2019

Sensitivity, specificity, and reliability of the Get Active Questionnaire for identifying children with medically necessary special considerations for physical activity.

Appl Physiol Nutr Metab 2019 Jul 30;44(7):736-743. Epub 2018 Nov 30.

a Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.

Physical activity is promoted for optimal health but may carry risks for children who require medically necessary activity restrictions. The sensitivity, specificity, and reliability of the Get Active Questionnaire (GAQ) for identifying children needing special considerations during physical activity was evaluated among parents of 207 children aged 3 to 14 years (97 (47%) female, mean age of 8.4 ± 3.7 years). GAQ responses were compared with reports obtained directly from the treating physician ( = 192/207) and information in the medical chart (clinic notes/physician letter, = 111/207). Parent GAQ responses (either "No to all questions" or "Yes to 1 or more questions") agreed with physician (κ = 0.16, = 0.003) and medical record (κ = 0.15, = 0.003) reports regarding the need for special consideration during physical activity (Yes/No). Sensitivity was 71% (20/28) and specificity was 59% (96/164), with few false-negative responses. The GAQ was most effective for rheumatology and cardiology patients. False positives were 29% to 46%, except among chronic pain (80%) and rehabilitation (75%) patients. Test-retest reliability was moderate (Cronbach's α = 0.70) among 57 parents who repeated the GAQ 1 week later. The GAQ effectively identified children not requiring physical activity restrictions and those with medical conditions similar to those of concern among adults. Additional questions from a qualified exercise professional, as recommended for a "Yes" response on the GAQ, should reduce the false-positive burden. Indicating the timeframe of reference for each question and including an option to describe other special considerations (e.g., medication, supervision) are recommended.
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http://dx.doi.org/10.1139/apnm-2018-0314DOI Listing
July 2019

Relationship Between Physical Activity, Tic Severity and Quality of Life in Children with Tourette Syndrome.

J Can Acad Child Adolesc Psychiatry 2018 Nov 1;27(4):222-227. Epub 2018 Nov 1.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario.

Objective: To examine the relationship between physical activity, tic severity and quality of life (QoL) in children and adolescents with persistent tic disorder and Tourette Syndrome.

Method: Baseline data was examined from a larger randomized controlled trial (Clinicaltrials.gov NCT02153463). Physical activity was assessed via pedometers with daily step count recorded. Tic severity (assessed via Yale Global Tic Severity Scale or YGTSS) and QoL (assessed via PEDs QL 4.0) were compared between those more physically active (≥12,000 steps/day) and less physically active (<12,000 steps/day).

Results: Thirteen children participated; four had ≥12,000 steps/day and nine had <12,000 steps/day. The active group had a lower total tic severity (p = 0.02), and total YGTSS score (p=0.01). The vocal tic severity score was lower in the active group (p=0.02). Motor tic severity was not different amongst the two groups. For Peds QL scores, the active group performed better in physical functioning (p=0.01), social functioning (p=0.03), school functioning (p=0.02), psychosocial functioning (p=0.03) and total PEDs QL score (p=0.01).

Conclusions: Higher physical activity levels are associated with lower vocal tic severity and improved aspects of quality of life. Further research is needed to determine the utility of physical activity as therapy for tics.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254264PMC
November 2018

Observations of the hidden curriculum on a paediatrics tertiary care clinical teaching unit.

Paediatr Child Health 2018 Nov 17;23(7):435-440. Epub 2018 Feb 17.

Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

Objective: The hidden curriculum is a set of influences that function at the level of organizational structure and culture which fall outside the formal curriculum, and are often unarticulated or unexplored. Learning associated with the hidden curriculum may have negative consequences on trainee educational development. The study goal was to examine how aspects of the hidden curriculum were enacted during ward rounds on a tertiary care general paediatrics clinical teaching unit (CTU).

Methods: We conducted an ethnographic case study on a CTU of a tertiary care paediatric hospital and observed interactions between medical students, residents and attending staff on rounds. Detailed field notes were collected and inductive analysis was used to inform descriptions and identify themes regarding the hidden curriculum.

Results: Twenty-two hours of observation were performed. Two major themes emerged: and reflected the reinforcement of the rules of rank and 'who to respect'; it contained three subthemes including 'rules of the game', positioning and questioning order. concerned the finding that active participation and attentiveness during rounds varied by home discipline.

Conclusions: We were able to identify representations of the hidden curriculum during observations on a tertiary care paediatric CTU. Interest appears to be a determinant in student level of engagement and observed hierarchies have the potential to impact this engagement either positively or negatively.
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http://dx.doi.org/10.1093/pch/pxx206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199637PMC
November 2018

Uncovering cynicism in medical training: a qualitative analysis of medical online discussion forums.

BMJ Open 2018 10 18;8(10):e022883. Epub 2018 Oct 18.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Objective: The development of cynicism in medicine, defined as a decline in empathy and emotional neutralisation during medical training, is a significant concern for medical educators. We sought to use online medical student discussion groups to provide insight into how cynicism in medicine is perceived, the consequences of cynicism on medical trainee development and potential links between the hidden curriculum and cynicism.

Setting: Online analysis of discussion topics in Premed101 (Canadian) and Student Doctor Network (American) forums.

Participants: 511 posts from seven discussion topics were analysed using NVivo 11. Participants in the forums included medical students, residents and practising physicians.

Methods: Inductive content analysis was used to develop a data-driven coding scheme that evolved throughout the analysis. Measures were taken to ensure the trustworthiness of findings, including duplicate independent coding of a sub-sample of posts and the maintenance of an audit trail.

Results: Medical students, residents and practising physicians participating in the discussion forums engaged in discourse about cynicism and highlighted themes of the hidden curriculum resulting in cynicism. These included the progression of cynicism over the course of medical training as a coping mechanism; the development of challenging work environments due to factors such as limited support, hierarchical demands and long work hours; and the challenge of initiating change due to the tolerance of unprofessionalism and the highly stressful nature of medicine.

Conclusion: Our unique study of North American medical discussion posts demonstrates that cynicism develops progressively and is compounded by conflicts between the hidden and formal curriculum. Online discussion groups are a novel resource to provide insight into the culture of medical training.
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http://dx.doi.org/10.1136/bmjopen-2018-022883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196850PMC
October 2018

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).

Tremor Other Hyperkinet Mov (N Y) 2018 1;8:548. Epub 2018 Jun 1.

University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.

Background: Hemifacial spasms are involuntary contractions of the muscles of one side of the face.

Case Report: Here, we report a 5-year-old female patient with a significant past medical history, including mucopolysaccharidosis type VI, who also presented with hemifacial spasms. Further investigations showed narrowing of skull foramina and hydrocephalus, but no compression of the facial nerve. Carbamazepine was given to the patient, which caused cessation of the spasms.

Discussion: Currently, there is no literature discussing the relationship between hemifacial spasms and mucopolysaccharidosis type VI; we have proposed that mucopolysaccharide deposits or dural thickening may contribute to nerve irritation.
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http://dx.doi.org/10.7916/D8SX7WFQDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026275PMC
November 2018

A 4-year-old girl with head drops.

Paediatr Child Health 2017 Mar 30;22(1):39-40. Epub 2017 Mar 30.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

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http://dx.doi.org/10.1093/pch/pxx014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804968PMC
March 2017

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Am J Med Genet A 2017 Jun 21;173(6):1611-1619. Epub 2017 Apr 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.

Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region. These results point to a novel gene locus associated with ataxia and highlight the variability of the clinical presentation of patients with deletions of this region.
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http://dx.doi.org/10.1002/ajmg.a.38231DOI Listing
June 2017

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Hum Mol Genet 2017 05;26(9):1706-1715

Research Center, CHU Sainte-Justine, University of Montreal, Montreal, Quebec H3T1C5, Canada.

There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability. Here, we report two siblings with compound heterozygous variants in the gene phosphatidylinositol glycan anchor biosynthesis, class P (PIGP) (NM_153681.2: c.74T > C;p.Met25Thr and c.456delA;p.Glu153AsnFs*34). PIGP encodes a subunit of the enzyme that catalyzes the first step of GPI anchor biosynthesis. Both children presented with early-onset refractory seizures, hypotonia, and profound global developmental delay, reminiscent of other IGD phenotypes. Functional studies with patient cells showed reduced PIGP mRNA levels, and an associated reduction of GPI-anchored cell surface proteins, which was rescued by exogenous expression of wild-type PIGP. This work associates mutations in the PIGP gene with a novel autosomal recessive IGD, and expands our knowledge of the role of PIG genes in human development.
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http://dx.doi.org/10.1093/hmg/ddx077DOI Listing
May 2017

Lumbar puncture simulation in pediatric residency training: improving procedural competence and decreasing anxiety.

BMC Med Educ 2016 Aug 8;16:198. Epub 2016 Aug 8.

Department of Pediatrics, Division of Neurology, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, ON, K1H 8L1, Canada.

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.
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http://dx.doi.org/10.1186/s12909-016-0722-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977880PMC
August 2016

Real-World Implementation of a Standardized Handover Program (I-PASS) on a Pediatric Clinical Teaching Unit.

Acad Pediatr 2016 08 14;16(6):532-9. Epub 2016 May 14.

Department of Pediatrics, University of Ottawa, Ottawa, Canada. Electronic address:

Objective: A standardized handover curriculum (I-PASS) has been shown to reduce preventable adverse events in a large multicenter study. We aimed to study the real-world impact of the implementation of this curriculum on handover quality, duration, and identification of unstable patients.

Methods: A prospective intervention study was conducted. We implemented the I-PASS curriculum via faculty education and resident workshops. Resident handover on the clinical teaching unit was videorecorded, and written handover documents were collected for 2 weeks before and after the intervention. We examined the inclusion of key elements on handover documents before and after intervention using logistic regression models accounting for multiple handovers per patient. Duration of handover was compared using a linear regression model adjusting for number of patients. Qualitative content analysis was used to describe observable differences in verbal handover recordings and written critical care consultations.

Results: A total of 1275 handovers were included, comprising 364 inpatients. There was a significant increase (P < .05) in 7 of 11 key elements and a significant decrease in written physical examination findings after the intervention. No significant change was found in handover duration. Qualitative video analysis revealed observable differences in handover collaboration and organization. After the intervention, patients with critical care needs overnight were correctly identified as requiring close monitoring during handover.

Conclusions: Handover training resulted in consistent inclusion of key elements and was characterized by collaboration between participants and improved organization without significant increase in handover duration. Appropriate identification and response to clinically deteriorating patients was also found using the I-PASS model.
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http://dx.doi.org/10.1016/j.acap.2016.05.143DOI Listing
August 2016

What is the Future of Pediatric Neurology in Canada? Resident and Faculty Perceptions of Training and Workforce Issues.

Can J Neurol Sci 2016 Jul 14;43(4):549-53. Epub 2016 Mar 14.

2Division of Paediatric Neurology,Department of Paediatrics,The Hospital for Sick Children,University of Toronto,Toronto,Canada.

Background: Pediatric neurology trainee numbers have grown considerably in Canada; recent research, however, has shown that the number of pediatric neurology graduates is outpacing the need for future pediatric neurologists. The purpose of this study was to seek the opinion of pediatric neurology program directors and trainees regarding possible solutions for this issue.

Methods: Two focus groups were convened during the Canadian Neurological Sciences Federation annual congress in June 2012; one consisted of current and former program directors, and the other of current pediatric neurology trainees. Groups were asked for their perceptions regarding child neurology manpower issues in Canada as well as possible solutions. Focus groups were audio-recorded and transcribed for analysis. Theme-based qualitative analysis was used to analyze the transcripts.

Results: Major themes emerging from both focus groups included the emphasis on community pediatric neurology as a viable option for trainees, including the need for community mentors; recognizing the needs of underserviced areas; and establishing academic positions for community preceptors. The need for career mentoring and support structures during residency training was another major theme which arose. Program directors and trainees also gave examples of ways to reduce the current oversupply of trainees in Canada, including limiting the number of trainees entering programs, as well as creating a long-term vision of child neurology in Canada.

Conclusions: A nationwide dialogue to discuss the supply and demand of manpower in academic and community pediatric neurology is essential. Career guidance options for pediatric neurology trainees across the country merit further strengthening.
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http://dx.doi.org/10.1017/cjn.2016.6DOI Listing
July 2016

Canadian Paediatric Neurology Workforce Survey and Consensus Statement.

Can J Neurol Sci 2016 May 20;43(3):402-9. Epub 2016 Jan 20.

4McMaster University,Hamilton,Ontario,Canada.

Background: Little knowledge exists on the availability of academic and community paediatric neurology positions. This knowledge is crucial for making workforce decisions. Our study aimed to: 1) obtain information regarding the availability of positions for paediatric neurologists in academic centres; 2) survey paediatric neurology trainees regarding their perceptions of employment issues and career plans; 3) survey practicing community paediatric neurologists 4) convene a group of paediatric neurologists to develop consensus regarding how to address these workforce issues.

Methods: Surveys addressing workforce issues regarding paediatric neurology in Canada were sent to: 1) all paediatric neurology program directors in Canada (n=9) who then solicited information from division heads and from paediatric neurologists in surrounding areas; 2) paediatric neurology trainees in Canada (n=57) and; 3) community paediatric neurologists (n=27). A meeting was held with relevant stakeholders to develop a consensus on how to approach employment issues.

Results: The response rate was 100% from program directors, 57.9% from residents and 44% from community paediatric neurologists. We found that the number of projected positions in academic paediatric neurology is fewer than the number of paediatric neurologists that are being trained over the next five to ten years, despite a clinical need for paediatric neurologists. Paediatric neurology residents are concerned about job availability and desire more career counselling.

Conclusions: There is a current and projected clinical demand for paediatric neurologists despite a lack of academic positions. Training programs should focus on community neurology as a viable career option.
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http://dx.doi.org/10.1017/cjn.2015.360DOI Listing
May 2016

Life imitating art: depictions of the hidden curriculum in medical television programs.

BMC Med Educ 2015 Sep 26;15:156. Epub 2015 Sep 26.

Children's Hospital of Eastern Ontario, 401 Smyth Rd, Ottawa, ON, K1H 8L1, Canada.

Background: The hidden curriculum represents influences occurring within the culture of medicine that indirectly alter medical professionals' interactions, beliefs and clinical practices throughout their training. One approach to increase medical student awareness of the hidden curriculum is to provide them with readily available examples of how it is enacted in medicine; as such the purpose of this study was to examine depictions of the hidden curriculum in popular medical television programs.

Methods: One full season of ER, Grey's Anatomy and Scrubs were selected for review. A summative content analysis was performed to ascertain the presence of depictions of the hidden curriculum, as well as to record the type, frequency and quality of examples. A second reviewer also viewed a random selection of episodes from each series to establish coding reliability.

Results: The most prevalent themes across all television programs were: the hierarchical nature of medicine; challenges during transitional stages in medicine; the importance of role modeling; patient dehumanization; faking or overstating one's capabilities; unprofessionalism; the loss of idealism; and difficulties with work-life balance.

Conclusions: The hidden curriculum is frequently depicted in popular medical television shows. These examples of the hidden curriculum could serve as a valuable teaching resource in undergraduate medical programs.
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http://dx.doi.org/10.1186/s12909-015-0437-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583760PMC
September 2015

The hidden and informal curriculum across the continuum of training: A cross-sectional qualitative study.

Med Teach 2016 14;38(4):410-8. Epub 2015 Aug 14.

a Children's Hospital of Eastern Ontario , Canada .

Purpose: The hidden and informal curricula refer to learning in response to unarticulated processes and constraints, falling outside the formal medical curriculum. The hidden curriculum has been identified as requiring attention across all levels of learning. We sought to assess the knowledge and perceptions of the hidden and informal curricula across the continuum of learning at a single institution.

Methods: Focus groups were held with undergraduate and postgraduate learners and faculty to explore knowledge and perceptions relating to the hidden and informal curricula. Thematic analysis was conducted both inductively by research team members and deductively using questions structured by the existing literature.

Results: Participants highlighted several themes related to the presence of the hidden and informal curricula in medical training and practice, including: the privileging of some specialties over others; the reinforcement of hierarchies within medicine; and a culture of tolerance towards unprofessional behaviors. Participants acknowledged the importance of role modeling in the development of professional identities and discussed the deterioration in idealism that occurs.

Conclusions: Common issues pertaining to the hidden curriculum exist across all levels of learners, including faculty. Increased awareness of these issues could allow for the further development of methods to address learning within the hidden curriculum.
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http://dx.doi.org/10.3109/0142159X.2015.1073241DOI Listing
January 2017

The hidden and informal curriculum across the continuum of training: A cross-sectional qualitative study.

Med Teach 2016 Apr 14;38(4):410-418. Epub 2015 Aug 14.

a Children's Hospital of Eastern Ontario , Canada.

Purpose: The hidden and informal curricula refer to learning in response to unarticulated processes and constraints, falling outside the formal medical curriculum. The hidden curriculum has been identified as requiring attention across all levels of learning. We sought to assess the knowledge and perceptions of the hidden and informal curricula across the continuum of learning at a single institution.

Methods: Focus groups were held with undergraduate and postgraduate learners and faculty to explore knowledge and perceptions relating to the hidden and informal curricula. Thematic analysis was conducted both inductively by research team members and deductively using questions structured by the existing literature.

Results: Participants highlighted several themes related to the presence of the hidden and informal curricula in medical training and practice, including: the privileging of some specialties over others; the reinforcement of hierarchies within medicine; and a culture of tolerance towards unprofessional behaviors. Participants acknowledged the importance of role modeling in the development of professional identities and discussed the deterioration in idealism that occurs.

Conclusions: Common issues pertaining to the hidden curriculum exist across all levels of learners, including faculty. Increased awareness of these issues could allow for the further development of methods to address learning within the hidden curriculum.
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http://dx.doi.org/10.3109/0142159X.2015.1073241DOI Listing
April 2016

The h-index in medical education: an analysis of medical education journal editorial boards.

BMC Med Educ 2014 Nov 28;14:251. Epub 2014 Nov 28.

Background: Disciplines differ in their authorship and citation practices, thus discipline-specific h-index norms are desirable. Thus the goal of this study was to examine the relationship between the h-index and academic rank in the field of medical education, and the differences in the h-index between MD's and PhD's in this field.

Methods: Due to the absence of a formalized registry of medical educators, we sampled available editorial board membership (considered a proxy for identifying 'career' medical educators) to establish h-index values. These were determined using Web of Science (WoS) and Google Scholar (GS), and internet searching was used to determine their academic rank. The correlation between authors' h-indices derived from WoS and GS was also determined.

Results: 130 editors were identified (95 full professors, 21 associate professors, 14 assistant professors). A significant difference was noted between the h-indices of full professors and associate/assistant professors (p < .001). Median h-indices equaled 14 for full professors (Interquartile range [IQR] =11); 7 for associate professors (IQR =7) and 6.5 for assistant professors (IQR = 8). h-indices of MD's and PhD's did not differ significantly. Moderate correlation between GS and WOS h-indices was noted R = 0.46, p < .001.

Conclusions: The results provide some guidance as to the expected h-indices of a select group of medical educators. No differences appear to exist between assistant professor and associate professor ranks or between MD's and PhD's.
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http://dx.doi.org/10.1186/s12909-014-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251938PMC
November 2014

Productivity in medical education research: an examination of countries of origin.

BMC Med Educ 2014 Nov 18;14:243. Epub 2014 Nov 18.

Background: Productivity and countries of origin of publications within the field of medical education research have not been explored. Using bibliometric techniques we conducted an analysis of studies evaluating medical education interventions, examining the country where research originated as well as networks of authors within countries identified as 'most productive'.

Methods: PubMed was used to search for evaluative studies of medical education. We then examined relative productivity of countries with >100 publications in our sample (number of publications/number of medical schools in country). Author networks from the top 2 countries with the highest relative productivity were constructed.

Results: 6874 publications from 18,883 different authors were included. The countries with the highest relative publication productivity were Canada (37.1), Netherlands (28.3), New Zealand (27), the UK (23), and the U.S.A (17.1). Author collaboration networks differed in both numbers of authors and intensity of collaborations in the countries with highest relative productivity.

Conclusions: In terms of the number of publications of evaluative studies in medical education, Canada.
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http://dx.doi.org/10.1186/s12909-014-0243-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4239316PMC
November 2014

No Cases of PANDAS on Follow-Up of Patients Referred to a Pediatric Movement Disorders Clinic.

Front Pediatr 2014 25;2:104. Epub 2014 Sep 25.

Faculty of Medicine, University of Ottawa , Ottawa, ON , Canada ; Department of Neurology, Children's Hospital of Eastern Ontario (CHEO) , Ottawa, ON , Canada.

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.
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http://dx.doi.org/10.3389/fped.2014.00104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174741PMC
October 2014