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.

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.

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.

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.

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.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.

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.

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.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

An amendment to this paper has been published and can be accessed via the original article.

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.

Preparing residents to deal with human trafficking.

BACKGROUND: Victims of human trafficking (HT) are predisposed to numerous health concerns. Many encounter health care practitioners during captivity, but awareness and knowledge among front-line physicians is low. Limited data exist on attempts to address this within residency training programmes. Formal curriculum time in residency is limited and online modules may be a useful educational option. METHODS: Residents in family medicine, emergency medicine and general paediatrics at the University of Alberta were invited to participate. They completed short surveys to assess knowledge both before and after completing an online learning module either individually (n = 15) or in a facilitated session (n = 17). Baseline and post-intervention changes in self-reported and tested knowledge were assessed. RESULTS: Thirty-two residents completed the pre-intervention survey: only 6% self-identified as somewhat knowledgeable on HT and 16% knew the red flags used to identify victims. Eighty-one percent wanted this topic incorporated into residency training, but only 6% and 25% had received education previously in residency or medical school, respectively. Thirteen percent were comfortable supporting victims, and 6% reported knowing how to provide support. Twenty residents completed the post-intervention survey, with improvements in both self-reported (p < 0.001) and tested (p = 0.005) knowledge of HT. Residents also reported being more prepared to identify victims (p < 0.001), more comfortable supporting victims (p < 0.001) and more confident in knowing how to support victims (p < 0.001). DISCUSSION: Baseline HT knowledge in residents providing first-contact care appears limited. Residency programmes should consider providing more HT education in order to improve competency in care. Although an online module was shown to be effective, protected time might be necessary for the widespread adoption of online education delivery.

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.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

BACKGROUND: Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH4 deficiencies. CONCLUSION: Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH4 deficient patients.

A Visiting Professorship in Undergraduate Medical Education at the University of Alberta: Reflections on possibilities for medical humanities in China, and elsewhere.

This article was migrated. The article was marked as recommended. Enhancing humanities in medical education is a pressing concern in China. Similar to other countries, medical education in China evolved over the past century to emphasize bioscience and technology in treating illness and disease. Increasing recognition of the limitations of biomedical technology led to emergence of the medical humanities in the West in the latter half of the 20 th century, an interdisciplinary area that has continued to expand and grow. In China and elsewhere, activity in this area developed somewhat later. Ongoing patient-doctor disputes and decline in public trust in the medical profession in China has led many to advocate for enhanced emphasis on humanism and medical humanities. In 2017, the Chinese government introduced new healthcare reforms which included an education and training plan that promotes medical humanities teaching. Global developments have led to a wide variety of models and approaches that may be considered in cultivating medical humanities and humanism in China. With the support of China Medical University in Shenyang, Liaoning Province, PRC, Professor Wei visited the Faculty of Medicine & Dentistry at the University of Alberta through the 2019/20 academic year. This article provides an overview of a wide array of medical humanities teaching and learning opportunities associated with the undergraduate medical education program at the University of Alberta. Professor Wei reflects on possibilities for medical humanities in medical education in China given all she learned and experienced as a visiting professor at the University of Alberta, which may be of interest to others who are also developing new approaches to introducing medical humanities as part of their health professions education program. Additional reflections regarding possibilities for global medical humanities are also offered.