Autistic Regression and Exposure to Industrial Chemicals: Preliminary Observations.

Exposure to industrial pollutants is a potential risk factor not fully explored in ASD with regression (ASD+R). We studied geographical collocation patterns of industrial air chemical emissions and the location of homes of children with ASD+R at different exposure times, compared with ASD cases without regression (ASD-R). Fifteen of 111 emitted chemicals collocated with ASD+R, and 65 with ASD-R. ASD+R collocated more strongly with different neurotoxicants/immunotoxicants a year before diagnosis, whereas ASD-R were moderately collocated with chemicals across all exposure periods. This preliminary exploratory analysis of differences in exposure patterns raises a question regarding potential pathophysiological differences between the conditions.

Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.

PURPOSE: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP. Precision medicine practices are currently a standard of care, and Next-Generation-Sequencing (NGS) tools are used for the purpose of diagnosis and management. We describe the diagnostic yield and impact on management of NGS comparing a cohort of 102 children and 37 adults with CP, referred to two tertiary care centres between 2015 and 2020 (adult cohort) and 2017-2020 (pediatric cohort) respectively. PRINCIPAL RESULTS: In the adult cohort, 28 patients had a positive genetic diagnosis, giving a yield of 75.6%. Their age varied between 18 and 59 years, with a median of 28 years. Out of the positive diagnoses, 12 were consistent with an inborn error of metabolism and in 9 patients (32.1%) some form of treatment or management guideline was recommended. In the pediatric cohort 21 patients had a positive genetic diagnosis and 22 results are still pending, giving a yield of 32.8%. Age at diagnosis ranged between 18 months and 12 years. In 15 patients (71.4%) there was some form of management recommendation. All families benefited from genetic counseling. MAJOR CONCLUSIONS: Given the combined high yield of positive genetic diagnosis in pediatric and adult cases presenting with symptoms of Cerebral Palsy, and the more readily available Next Generation Sequencing testing in major academic centres, we recommend that either a referral to a pediatric or adult neurometabolic centre to be made, or genetic testing to be initiated where this is available.

Freedom from discrimination or freedom to discriminate? Discursive tensions within discrimination policies in medical education.

The importance of advancing equity, diversity, and inclusion for all members of the academic medical community has gained recent attention. Academic medical organizations have attempted to increase broader representation while seeking structural reforms consistent with the goal of enhancing equity and reducing disproportionality. However, efforts remain constrained while minority groups continue to experience discrimination. In this study, the authors sought to identify and understand the discursive effects of discrimination policies within medical education. The authors assembled an archive of 22 texts consisting of publicly available discrimination and harassment policy documents in 13 Canadian medical schools that were active as of November 2019. Each text was analysed to identify themes, rhetorical strategies, problematization, and power relations. Policies described truth statements that appear to idealize equity, yet there were discourses related to professionalism and neutrality that were in tension with these ideals. There was also tension between organizations' framing of a shared responsibility for addressing discrimination and individual responsibility on complainants. Lastly, there were also competing discourses on promoting freedom from discrimination and the concept of academic freedom. Overall, findings reveal several areas of tension that shape how discrimination is addressed in policy versus practice. Existing discourses regarding self-protection and academic freedom suggest equity cannot be advanced through policy discourse alone and more substantive structural transformation may be necessary. Existing approaches may be inadequate to address discrimination unless academic medical organizations interrogate the source of these discursive tensions and consider asymmetries of power.

Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.

HECT And RLD Domain-Containing E3 Ubiquitin Protein Ligase 2, or HERC2, codes an ubiquitin ligase that has an important role in key cellular processes including cell cycle regulation, DNA repair, mitochondrial functions, and spindle formation during mitosis. While HERC2 Neurodevelopmental Disorder in Old Order Amish is a well characterized human disorder involving HERC2, bi-allelic HERC2 loss of function has only been described in three families and results in a more severe neurodevelopmental disorder. Herein, we delineate the HERC2 loss of function phenotype by describing three previously unreported patients, and by summarizing the molecular and phenotypic information of all known HERC2 missense variants and biallelic loss of function patients. Collectively, these twelve individuals present with recurring features that define a syndrome with varying combinations of severe neurodevelopmental delay, structural brain anomalies, seizures, hypotonia, feeding difficulties, hearing and vision issues, and renal anomalies. This study describes a distinct neurodevelopmental disorder, emphasizing the importance of further characterization of HERC2-related disorders, as well as highlighting the importance of ongoing work into understanding these critical neurodevelopmental pathways.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.

Social Media and the Transformation of the Physician-Patient Relationship: Viewpoint.

As many as 80% of internet users seek health information online. The social determinants of health (SDoH) are intimately related to who has access to the internet and health care as a whole. Those who face more barriers to care are more likely to benefit from accessing health information online, assuming the information they are retrieving is accurate. Virtual communities on social media platforms are beginning to serve as venues for seeking health information online because peers have been shown to influence health behavior more than almost anything else. As a positive mediator of health, social media can be used as a direct or indirect mode of communication between physicians and patients, a venue for health promotion and health information, and a community support network. However, false or misleading content, social contagion, confirmation bias, and security and privacy concerns must be mitigated to realize the full potential of social media as a positive mediator of health. This paper presents the shifting dynamics of how such communities are affecting physician-patient relationships. With the intersections between the SDoH, social media, and health evolving, physicians must take into consideration these factors when establishing their relationships with patients. We argue a paradigm shift in the physician-patient relationship is warranted, one where physicians acknowledge the impacts of the SDoH on information-seeking behavior, recognize the positive and negative roles of social media as a mediator of health through the lens of the SDoH, and use social media to catalyze positive changes in the physician-patient relationship. We discuss how the physician-patient relationship must evolve to accommodate for the ever-increasing role of social media in health and to best use social media as a tool to improve health outcomes. Finally, we present a fluid and multicomponent diagram that we believe will assist in framing future research in this area. We conclude that it is ineffective and even counterproductive for physicians to ignore the relationship between social media, the SDoH and health, their impact on one another, and the effect it has on designing the medical encounter and the delivery of care under the definition of precision medicine.

Human Leukocyte Antigen Gene Testing and Carbamazepine-Induced Toxic Epidermal Necrolysis: A Study of Pediatric Practice.

BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening drug-induced dermatologic conditions. SJS/TEN occurs in 1-10 per 10 000 patients taking carbamazepine (CBZ) (Pratt VM, McLeod HL, Rubinstein WS et al. Medical Genetics Summaries. National Center for Biotechnology Information US; 2018: 1-527). The development of SJS/TEN is associated with variable drug metabolism and presence of an at-risk HLA haplotype. HLA-B*15:02 and HLA-A*31:01 haplotypes can produce a hyperimmune response in the setting of CBZ use in patients of Asian and European descent, respectively (Schneider JA, Cohen PR. Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A concise review with a comprehensive summary of therapeutic interventions emphasizing supportive measures. Adv Ther. 2017; 34:1235-1244). OBJECTIVE: The US Food and Drug Administration (FDA) and the Canadian pharmacogenomics Network for Drug Safety (CPNDS) recommend that patients with high-risk ethnic backgrounds should be genetic tested before initiating CBZ (Sukasem C, Chaichan C, Nakkrut T et al. Association between HLA-B Alleles and Carbamazepine-induced maculopapular exanthema and severe cutaneous reactions in Thai patients. Journal of Immunology Research. 2018; 1-11).We sought out to assess the awareness of this in prescribing practitioners and their standard of practice. METHODS: We created a 15-question survey and distributed to pediatric neurologists and pediatricians at the University of Alberta. We hypothesized that there was a discordance between the standard of practice and the recommendation by the FDA and CPNDS. RESULTS: The survey results indicated a lack of awareness of the at-risk ethnicities for CBZ-induced SJS/TEN. HLA gene testing was rarely done prior to initiation of CBZ in high-risk patients. In addition, there was a lack of awareness for standard of care for genetic testing in Canada and worldwide. CONCLUSIONS: Our results demonstrate an evident gap between current prescriber practices and existing FDA and CPNDS recommendations to screen for HLA genotypes. We hope that this study captures the realistic potential to improve patient outcomes.

Refugee Health Curriculum in Undergraduate Medical Education (UME): A Scoping Review.

Phenomenon: An increasing number of refugees in recent years has led to changes in healthcare delivery. Historically, health care providers did not receive systematic and longitudinal training in refugee health. There is increasing interest among educators in developing educational opportunities for medical students to gain more training on how to care for this population. The aim of this scoping review was to identify and analyze existing literature on educational content and methods of delivery in Undergraduate Medical Education (UME) curricula related to refugees. Approach: The authors conducted a scoping review. Our search was conducted in seven electronic bibliographic databases. The search strategy was restricted to English language and scholarly articles. Three members of the research team tabulated and summarized extracted data. A qualitative thematic analysis was conducted to present findings. Findings: Of the 717 publications found, 24 met our inclusion criteria. The articles included in this review were published between 2003 and 2019. Thirteen (57.6%) were descriptive papers, three (11.5%) qualitative, four (15.3%) quantitative, and one (3.8%) mixed methods. Other publications included one commentary, one letter to the editor, and one review paper. Three main descriptive themes were identified: (1) Content related to refugees' curriculum, (2) Teaching strategies, and (3) Learning outcomes. Insights: Studies included in our review suggest that delivering refugee health curricula to medical students improve self-perception of cross-cultural knowledge, communication, and physical exam skills that are necessary to deliver proper healthcare. Medical schools should focus on developing a longitudinal and standardized approach to teaching refugee health through the use of interactive and diverse learning methods while engaging with the community to ensure a better provision of health care for vulnerable populations.

The DISCuSS model: Creating connections between community and curriculum - A new lens for curricular development in support of social accountability.

Medicine's social mandate recognizes the importance of introducing changes to systems and practices to meet the healthcare needs of marginalized populations. Social accountability efforts encompass a wide array of actions, including equity, diversity and inclusion initiatives, and adapting knowledge relevant to practice across education, research, and clinical domains. To influence change in education, ongoing structures and processes are needed to ensure adequacy, relevance, and effectiveness of curricular coverage. In support of this, we created an innovative and creative approach to developing curricular modules to prepare medical students to provide care that is responsive to the cultural, economic, and psychosocial realities of diverse patient populations. The DISCuSS model (Diversity, Identify, Search, Create module (with community engagement), Sustainability, Social accountability) provides a community-engaged, iterative approach to curriculum development relevant to social accountability. Over the past 5 years, we have created nine curricular modules focused on health-related inequities and social concerns, including modules on Indigenous and refugee health, sexual and gender minority health, human trafficking, and addiction. AFMC Graduation Questionnaire results have shown a statistically significant increase in our students 'preparedness to provide care to diverse populations.' The DISCuSS model, which continues to evolve, can be adapted and used in other settings.

Atypical cerebral palsy: genomics analysis enables precision medicine.

PURPOSE: The presentation and etiology of cerebral palsy (CP) are heterogeneous. Diagnostic evaluation can be a prolonged and expensive process that might remain inconclusive. This study aimed to determine the diagnostic yield and impact on management of next-generation sequencing (NGS) in 50 individuals with atypical CP (ACP). METHODS: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following: severe intellectual disability, progressive neurological deterioration, other abnormalities on neurological examination, multiorgan disease, congenital anomalies outside of the central nervous system, an abnormal neurotransmitter profile, family history, brain imaging findings not typical for cerebral palsy. Previous assessment by a neurologist and/or clinical geneticist, including biochemical testing, neuroimaging, and chromosomal microarray, did not yield an etiologic diagnosis. RESULTS: A precise molecular diagnosis was established in 65% of the 50 patients. We also identified candidate disease genes without a current OMIM disease designation. Targeted intervention was enabled in eight families (~15%). CONCLUSION: NGS enabled a molecular diagnosis in ACP cases, ending the diagnostic odyssey, improving genetic counseling and personalized management, all in all enhancing precision medicine practices.

A novel classification system for research reporting in rare and progressive genetic conditions.

AIM: To create a classification system for severe, rare, and progressive genetic conditions for use in research reporting. METHOD: A modified Delphi consensus technique was used to create and reach agreement on a new system of condition categories. Interrater reliability was tested via two rounds of an online survey whereby physicians classified a subset of conditions using our novel system. Overall percentage agreement and agreement above chance were calculated using Fleiss' kappa (κ). RESULTS: Eleven physicians completed the first Delphi, with an overall agreement of 76.4%, the κ value was 0.57 (95% confidence interval 0.51-0.63), indicating moderate agreement (0.41-0.60) above chance. Based on the first survey several categories were described in more detail. The second survey confirmed a classification system with 12 categories, with an overall percentage agreement among the participants of 82.6%. The overall mean κ value was 0.71 (95% confidence interval 0.65-0.77), indicating substantial agreement (0.61-0.80). INTERPRETATION: Our new system was useful in categorizing a broad range of rare childhood diseases and may be applicable to other rare disease studies; further validation in larger cohorts is required. WHAT THIS PAPER ADDS: This novel 12-category classification system can be used in research reporting in rare and progressive genetic conditions.

UN NOVEDOSO SISTEMA DE CLASIFICACIÓN PARA REPORTAR CONDICIONES GENÉTICAS RARAS Y PROGRESIVAS: OBJETIVO: Crear un sistema de clasificación para condiciones genéticas severas, raras y progresivas para uso en informes de investigación METODO: Se utilizó una técnica de consenso de Delphi modificada para crear y llegar a un acuerdo sobre un nuevo sistema de categorías de condiciones genéticas. La confiabilidad del sistema entre evaluadores se corroboró por medio de dos rondas de encuestas en linea en la que los médicos clasificaron un subconjunto de condiciones utilizando nuestro nuevo sistema. El porcentaje general de acuerdo y el acuerdo sobre la probabilidad se calcularon utilizando el kappa (κ) de Fleiss. RESULTADOS: Once médicos completaron el primer Delphi, con un acuerdo general de 76,4%, el valor de κ fue 0,57 (intervalo de confianza del 95% 0,51-0,63), lo que indica un acuerdo moderado (0,41-0,60). Sobre la base de la primera encuesta se describieron con más detalle varias categorías. La segunda encuesta confirmó un sistema de clasificación con 12 categorías, con un porcentaje de acuerdo general entre los participantes del 82,6%. El valor medio global de κ fue de 0,71 (intervalo de confianza del 95%: 0,65 a 0,77), lo que indica un acuerdo alto (0,61 a 0,80). INTERPRETACIÓN: Nuestro nuevo sistema de clasificación fue útil para categorizar una amplia gama de enfermedades infantiles raras y puede ser aplicable a otros estudios de enfermedades raras. Sugerimos validación adicional en cohortes más numerosas.

UM NOVO SISTEMA DE CLASSIFICAÇÃO PARA PESQUISAS RELATANDO CONDIÇÕES GENÉTICAS RARAS E PROGRESSIVAS: OBJETIVO: Criar um sistema de classificação para condições genéticas severas, raras e progressivas, a ser usado em relatos de pesquisas. MÉTODO: Uma técnica de consenso Delphi modificada foi usada para criar e obter concordância sobre um novo sistema de categorias de condições. A confiabilidade inter-examinadores foi testada em dois momentos por meio de um questionário virtual, pelo qual médicos classificaram um subgrupo de condições usando nosso novo sistema. A porcentagem geral de concordância e a concordância maior que o acaso foram calculadas usando kappa (k) de Fleiss. RESULTADOS: Onze médicos completaram o primeiro Delphi, com concordância geral de 76,4%, valor de k de 0,57 (intervalo de confiança a 95% 0,51-0,63), indicando concordância moderada (0,41-0,60) maior do que o acaso. Com base no primeiro questionário várias categorias foram descritas com maior detalhe. O segundo questionário confirmou um sistema de classificação com 12 categorias, com porcentagem geral de concordância entre os participantes de 82,6%. O valor de k médio geral foi 0,71 (intervalo de confiança a 95% 0,65-0,77), indicando concordância substancial (0,61-0,80). INTERPRETAÇÃO: Nosso novo sistema foi útil em categorizar uma ampla variedade de doenças da infância, e pode ser aplicável ao estudo de outras doenças raras; continuar a validação em coortes maiores é necessário.

Clinical clues for autoimmunity and neuroinflammation in patients with autistic regression.

AIM: Autistic regression is a unique variant within the autism spectrum disorders (ASDs), with recent reports raising the possibility of immune aetiology. This study explores clinical clues for an association between autistic regression and autoimmunity. METHOD: Single-centre charts of children diagnosed with ASD in 2014 were reviewed. We compared the rates of: (1) familial autoimmunity in first-degree and second-degree relatives; (2) febrile illness preceding initial parental concern, as a potential precipitant of immune activation; and (3) possible non-immune precipitants such as pregnancy and postnatal complications. RESULTS: The charts of 206 children with ASD and 33 diagnosed with autistic regression variant were reviewed. The incidence of febrile illness in the 6 months prior to initial parental concern was significantly higher in the children with autistic regression compared with those with ASD (30% vs 0%; p<0.001). The overall prevalence of familial autoimmunity was also higher in children with autistic regression compared with those with ASD (33% vs 12%; p<0.001). Type 1 diabetes and autoimmune thyroiditis were both more common in families with children with autistic regression. Other non-immune risk factors did not differ between the two groups. INTERPRETATION: Our findings suggest that predisposition to autoimmunity, and immune/inflammatory activation, may be associated with autistic regression.

Prevalence Estimate of Cerebral Palsy in Northern Alberta: Births, 2008-2010.

OBJECTIVES: The objectives of this study were to determine prevalence estimates of cerebral palsy (CP) among 5-year-old children in northern Alberta; to provide congenital, gestational age- and birth weight-specific, and postneonatal CP rates; and to describe motor subtypes and function. METHODS: This population-based prevalence estimate study, part of the Canadian Cerebral Palsy Registry, reports confirmed CP diagnoses at age 5 years made by pediatric rehabilitation and child neurology specialists. Prevalence rates with 95% confidence intervals (CIs) used Alberta government denominators of same-age children and live births. RESULTS: The Northern Alberta CP rate (birth years, 2008-2010) for 173 5-year-old children is 2.22 (95% CI 2.12, 2.32) per 1000 5-year-old children. The congenital CP rate is 1.99 (95% CI, 1.89-2.09) per 1000 live births; unilateral congenital CP, 1.0 (95% CI, 0.64-1.36) per 1000 live births; and postneonatal CP, 0.12 (95% CI, 0.1-0.14) per 1000 live births. Gestational age-specific rates are similar: age <28 weeks, 27.2 (95% CI, 23.05-31.35) and 28 to 31 weeks, 29.5 (95% CI, 25.78-33.22). Motor subtypes for 169 children (data missing, 4; male, 97; postnatal, 9) are: spastic, 148 (87.6%) including 31 (20.9%) with diplegia, 10 (6.8%) triplegia, 33 (22.2%) quadriplegia, 74 (50%) hemiplegia/monoplegia); and dyskinetic, 18 (10.6%) and ataxic, 3 (1.8%). A total of 107 (63.3%) ambulate without assistive devices and 111(65.7%) handle most objects with their hands independently. CONCLUSIONS: This is the fourth Canadian CP prevalence study; one from Quebec used a similar case ascertainment approach and two 1980s studies from Alberta and British Columbia used administrative databases. Northern Alberta CP rates are comparable with other developed countries. The hemiplegic subtype is the most common. Rates among preterm children have declined but are similar for the <28 and 28 to 31 gestation-week groups.

Femtosecond laser-induced cell-cell surgical attachment.

BACKGROUND AND OBJECTIVE: Laser-induced cell-cell surgical attachment using femtosecond laser pulses is reported. STUDY DESIGN/MATERIALS AND METHODS: We have demonstrated the ability to attach single cells using sub-10 femtosecond laser pulses, with 800 nm central wavelength delivered from a Ti:Sapphire laser. To check that the cells did not go through a cell-fusion process, a fluorescent dye Calcein AM was used to verify that the fluorescent dye did not migrate from a dyed cell to a non-dyed cell. The mechanical integrity of the attached joint was assessed using an optical tweezer. RESULTS: Attachment of cells was performed without the induction of cell-cell fusion, with attachment efficiency of 95%, and while preserving the cells' viability. Cell-cell attachment was achieved by delivery of one to two trains of femtosecond laser pulses lasting 15 ms each. CONCLUSIONS: Laser-induced ionization process led to an ultrafast reversible destabilization of the phospholipid layer of the cellular membrane. The inner cell membrane remained intact during the attachment procedure, and isolation of the cells' cytoplasm from the surrounding medium was obtained. A strong physical attachment between the cells was obtained due to the bonding of the membranes' ionized phospholipid molecules and the formation of a joint cellular membrane at the connection point. The cellular attachment technique, femtosecond laser-induced cell-cell surgical attachment, can potentially provide a platform for the creation of engineered tissue and cell cultures.

Codesigning Policy-Based Solutions to Discrimination and Harassment in Academic Medicine: An Inclusive Approach.

ABSTRACT: Academic medicine institutions have historically employed policies as a means to tackle various types of discrimination and harassment within educational and professional settings, thereby affirming their dedication to promoting diversity, equity, and inclusion. However, the implementation and effectiveness of policies are constrained by limitations, including a lack of awareness and barriers to reporting. Due to concerns about accountability and transparency, many groups and individuals experiencing discrimination have lost trust in policy-based solutions to address equity in academic medicine. To address such challenges, the authors offer an evidence-informed policy framework with actionable recommendations. First, policy should be cowritten through meaningful and participatory engagement. Second, organizations should publicly report on metrics of policy effectiveness. Third, to ensure accountability, external organizations or adjudicators should be involved in oversight of policy-based processes. Fourth, leadership commitment is essential for success. Overall, policy can be an effective mechanism to address discrimination and harassment; however, a more inclusive approach is needed.

A scoping review for designing a disability curriculum and its impact for medical students.

Background: There is an increasing need for a standardized undergraduate disability curriculum for medical students to better equip students with the proper training, knowledge, and skills to provide holistic care for individuals with disabilities. Objectives: The aim of this scoping review was to better understand and analyze the current body of literature focusing on best practice for including disability curricula and its impact on undergraduate medical students. Results: Three major components for designing a disability curriculum for undergraduate medical students were obtained from our analysis. The components were: (1) effective teaching strategies, (2) competencies required for disability curriculum, and (3) impact of disability curriculum on medical students. Conclusions: Current literature revealed that exposing medical students to a disability curriculum impacted their overall perceptions about people with disabilities. This allowed them to develop a sense of understanding towards patients with disabilities during their clinical encounters. The effectiveness of a disability curriculum is dependent on the extent to which these interventions are incorporated into undergraduate medical education.

Contexte: On constate un besoin croissant de créer une formation uniforme sur le handicap dans le cadre des études médicales de premier cycle afin de les doter des connaissances et des compétences nécessaires pour prodiguer des soins holistiques aux personnes handicapées. Objectifs: Le but de cette revue de la portée était de mieux cerner la littérature scientifique décrivant les meilleures pratiques pour l'élaboration d'un programme d'enseignement sur le handicap et les incidences d'un tel programme sur les étudiants en médecine de premier cycle. Résultats: Nous avons pu dégager trois éléments principaux dont il convient de tenir compte lors de la conception d'un programme d'enseignement sur le handicap au prédoctorat : (1) l'efficacité des stratégies pédagogiques, (2) les compétences à le cadre de la formation sur le handicap, et (3) les incidences de la formation sur les étudiants. Conclusions: La littérature révèle qu'une formation sur le handicap a des incidences sur la manière générale dont les étudiants en médecine perçoivent les personnes qui en souffrent. Par suite d'une telle formation, les étudiants font davantage preuve de compréhension envers les patients lors de leurs rencontres cliniques. L'efficacité d'une formation sur le handicap dépend du degré de son intégration dans le cursus médical de premier cycle.

Children Who Experience Unintentional Injuries: Their Functional Profiles.

Unintentional injuries are accidents that pose a major health problem among school children. This study compared the functional behavior and executive function characteristics of school-aged children who experienced unintentional injuries with those of controls who had not been injured. We investigated the background characteristics of injured children, injury characteristics, and parents' perceptions of the children's functional behaviors and executive function abilities. The study included 53 children aged 6 years to 18 years. Of them, 32 had experienced unintentional injuries. The 21 children who had not experienced unintentional injuries served as a control group matched for age and living environment. Parents of both groups completed (1) a demographic questionnaire addressing their children's background, daily functional behavior characteristics, and injury characteristics and (2) the Behavior Rating Inventory of Executive Function (BRIEF). Sixty percent of the children in the research (injured) group had been prediagnosed with learning disabilities or attention deficit hyperactivity disorders, compared with no child in the control (uninjured) group. Most injuries were limb fractures (60%) and sustained outside the home (50%). Parents of children who had been injured expressed significantly more concerns about their children's daily behavior than did parents of the control group and reported their children as usually, but not always, independent and responsible. Compared with the children in the uninjured group, the children in the injured group had significantly lower executive function abilities in the BRIEF's eight subscales, total behavioral regulation and metacognitive indices, and global executive function scores (p < .001). Children with certain diagnoses, functional behavior features, and deficient executive function abilities may be at risk for unintentional injuries. Raising occupational therapists' awareness of these aspects may contribute to identifying, treating, and preventing accidental injuries among at-risk children.

Startle Seizures and Diffuse Leukoencephalopathy After Resolution of Herpes Simplex Virus 1 Encephalitis in a Child.

We describe a unique clinical presentation of a child after the acute phase of herpes simplex virus 1 (HSV1) encephalitis. A 17-month-old boy first presented with HSV1 encephalitis and was promptly treated with antiviral medication. Seven months later, he was re-admitted for startle seizures. Magnetic Resonance Imaging of the brain showed diffuse confluent leukoencephalopathy. This constellation of symptoms has not been previously reported in HSV1 encephalitis. In conclusion, we showed that brain injury due to HSV1 encephalitis can be associated with the development of startle seizures and diffuse white matter injury in the post-acute phase.