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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., (Copyright © 2023 the Association of American Medical Colleges.)

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., Competing Interests: The authors declare no conflict of interest., (© 2023 Ali, Nguyen, Dennett, Goez, Rashid; licensee Synergies Partners.)

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., (Copyright © 2021 Elsevier Inc. All rights reserved.)

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., Competing Interests: The authors declare that there is no conflict of interest regarding the publication of this paper., (Copyright © 2022 Sara Rosenblum et al.)

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., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

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., (©Ella M E Forgie, Hollis Lai, Bo Cao, Eleni Stroulia, Andrew J Greenshaw, Helly Goez. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 24.12.2021.)

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 BH 4 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 BH 4 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 BH 4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits., (© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)

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., (© 2021. The Author(s).)

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., (© 2020 John Wiley & Sons Ltd and The Association for the Study of Medical Education.)

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.

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., (Copyright: © 2020 Wei L et al.)

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.

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

Background: Tetrahydrobiopterin (BH 4 ) 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 BH 4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH 4 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 BH 4 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 BH 4 deficient patients.

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., (© 2019 Mac Keith Press.)

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.

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.

Background: Paroxysmal movement disorders including paroxysmal tonic upward gaze of infancy and paroxysmal dystonia of infancy are benign but uncommon movement disorders seen in young children. Although symptoms are intermittent and resolve spontaneously, they can cause discomfort and distress for the child. Current treatment options are limited to dopaminergic agents or anticonvulsants with limited efficacy., Patient Description: The authors present a child with paroxysmal tonic upward gaze of infancy and another with paroxysmal dystonia of infancy, both of whom responded successfully to treatment with low-dose dimenhydrinate or diphenhydramine, respectively., Discussion: Dimenhydrinate and diphenhydramine both exert anticholinergic activity and have limited toxicity at low doses. This property makes either compound an attractive therapeutic option for paroxysmal movement disorders in infancy. These agents are generally well tolerated., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Schizencephaly is an uncommon congenital malformation of neuronal migration characterized by a gray matter-lined cleft extending from the pial surface to the ependymal surface of the lateral ventricles. Its etiology is heterogeneous and consists of hereditary factors or destructive processes that occur during the second trimester of pregnancy. We report 2 cases with schizencephaly and thrombophilia caused by mutations of the methyltetrahydrofolate reductase and the factor V Leiden genes. Their clinical presentations included motor deficits and mild cognitive deficits.

Clinical studies indicate a decrease in free and total carnitine in children treated with old-generation antiepileptic drugs (especially valproate). Here, we studied the effect of new-generation antiepileptic drugs on serum carnitine levels. Serum carnitine levels were measured in 91 children: 24 treated with vigabatrin, 28 treated with lamotrigine, and 21 treated with topiramate. These drugs were given as monotherapy (54 children) or polytherapy (19 children). Eighteen additional children treated with valproate served as control subjects. Reduced mean serum carnitine level was evident only in children treated with valproate, with mean free and total carnitine level of 26.9 +/- 8.6 micromol/L and 29.1 +/- 10.4 micromol/L, respectively. In contrast, the mean serum carnitine levels of children treated with vigabatrin, lamotrigine, or topiramate were similar and normal. In these children, the free carnitine levels were 38.5 +/- 7.8 micromol/L, 37.2 +/- 7.7 microg/mL, and 40.4 +/- 8.7 micromol/L, respectively, and total carnitine levels were 43.5 +/- 8.8 micromol/L, 44.4 +/- 9.2 micromol/L, and 45.5 +/- 9.8 micromol/L (+/-S.D.), respectively. Only 4 children (treated with valproate) exhibited considerably lower serum carnitine levels. None of these children had significant clinical adverse effects attributable to carnitine deficiency. In conclusion, these new-generation antiepileptic drugs probably do not cause carnitine deficiency. In contrast, valproate may induce carnitine deficiency, but most cases are asymptomatic.

Developmental coordination disorder affects 5% to 8% of the general population, and about 50% to 60% of these children have a comorbid attention-deficit disorder with hyperactivity and learning disorders. Left-handedness is relatively common among children with dyslexia, learning disabilities, and autism; however, its frequency in children with developmental coordination disorder is less clear. The present study investigated the distribution of hand dominance in 98 children (age range, 5.5-17 years) with developmental coordination disorder compared with their parents or siblings. Thirty children (30.6%) were left-handed and 13 (13.3%) were ambidextrous. The prevalence of left-handedness among their parents and siblings was similar to that of the general population. The results suggest that children with developmental coordination disorder, like children with learning disorders and deficit disorder with hyperactivity, present with higher frequency of left-hand dominance compared with the general population.

The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84%) presented with clinical symptoms before 4 months of age, and 6 children (16%) presented after 1 year of age. Thirteen children (35%) had a severe phenotype with chronic ventilatory dependence or mortality before the age of 11 years. Facial weakness was associated with a severe phenotype. There was a high rate of a severe clinical phenotype in patients with myotubular myopathy (60%) and in patients with nemaline myopathy (57%), whereas in patients with congenital fiber type disproportion and in patients with central core disease, the proportion of a severe phenotype was lower (23% and 0%, respectively).

Attention-deficit hyperactivity disorder (ADHD) affects 3% to 7% of school-age children. Approximately 30% of the children with ADHD also have comorbid anxiety or oppositional defiant disorder. Methylphenidate is the drug of choice for the medical treatment of such cases. When compared with children with ADHD alone, children with comorbid anxiety or oppositional defiant disorder may show worsening of the global attention score in response to methylphenidate and not only a "reduced response," as reported in previous studies. This study included 1122 children diagnosed as ADHD, of which 174 were diagnosed with comorbid anxiety and 141 with comorbid oppositional defiant disorder. All patients performed the Test of Variables of Attention before and after methylphenidate administration. A normal distribution (Gaussian distribution) of reaction to methylphenidate, as measured by the global ADHD score in children diagnosed as pure ADHD, was found. These findings were in contrast to children with ADHD and comorbid anxiety or oppositional defiant disorder who showed a bimodal distribution and hence represent a distinct population. In both groups with comorbid disorders, there was a larger subgroup in which significant worsening of global ADHD score occurred after methylphenidate administration (P < .05). Children with ADHD and comorbid anxiety or oppositional defiant disorder might represent clinically distinct populations in which inattention is secondary to those disorders; therefore, methylphenidate may be an inappropriate treatment for such children.