Care for children and youth with cerebral palsy (GMFCS levels III to V).

Cerebral palsy (CP) is the most common physical disability in Canadian children. The comprehensive care of ambulatory children with CP functioning at Gross Motor Function Classification System (GMFCS) level I and II was covered in a previous practice point. This companion document focuses on the care of children with CP functioning at GMFCS levels III to V. Children functioning at GMFCS level III and IV mobilize using devices such as a walker, canes, or powered mobility, while those functioning at GMFCS level V require assisted mobility, such as a manual wheelchair. An overview of key concepts in early detection, rehabilitation services, and therapeutic options for children with CP at these levels is provided, along with practical resources to assist health surveillance for paediatricians caring for this population.

Les soins aux enfants et aux adolescents ayant la paralysie cérébrale (aux niveaux III à V du GMFCS).

La paralysie cérébrale (PC) est l'incapacité physique la plus fréquente chez les enfants canadiens. Les soins complets des enfants ayant la PC, qui sont capables de marcher et qui fonctionnent aux niveaux I et II du système de classification de la fonction motrice globale (GMFCS) sont déjà exposés dans un point de pratique. Le présent document complémentaire traite des soins aux enfants ayant la PC qui fonctionnent aux niveaux III à V du GMFCS. Ceux qui fonctionnent aux niveaux III et IV du GMFCS utilisent des dispositifs d'assistance comme des déambulateurs, des cannes ou des aides à la mobilité motorisées, tandis que ceux qui fonctionnent au niveau V du GMFCS ont besoin d'assistance à la mobilité comme un fauteuil roulant manuel. Le présent document contient un aperçu des principaux concepts relatifs à la détection précoce, aux services de réadaptation et aux possibilités de traitement pour les enfants présentant ces niveaux de PC, conjointement avec des ressources pratiques pour contribuer à la surveillance de la santé assurée par les pédiatres qui s'occupent de cette population.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial mutations (1.5%). The COL4A1 gene had the most P/LP SNVs. We also analyzed two pediatric control cohorts (n = 203 trios and n = 89 sib-pair families) to provide a baseline for de novo mutation rates and genetic burden analyses, the latter of which demonstrated associations between de novo deleterious variants and genes related to the nervous system. An enrichment analysis revealed previously undescribed plausible candidate CP genes (SMOC1, KDM5B, BCL11A and CYP51A1). A multifactorial CP risk profile and substantial presence of P/LP variants combine to support WGS in the diagnostic work-up across all CP and related phenotypes.

Promoting optimal mental health outcomes for children and youth.

While paediatric care providers are often the first point of contact for children or youth experiencing mental health challenges, they may lack the resources (e.g., access to a multidisciplinary team) or training to adequately identify or manage such problems. This joint statement describes the key roles and competencies required to assess and address child and youth mental health problems, and the factors that optimize outcomes in this age group. Evidence-informed guidance on screening for and discussing mental health concerns with young people and families is provided. Preventive and therapeutic interventions with demonstrated efficacy in community care settings are discussed. This foundational statement also focuses on the changes to medical education, health systems, and health policy that are needed to improve clinical practice and advocacy efforts in Canada, including appropriate remuneration models, stepped-care approaches, targeted government funding, and professional training and education.

La promotion de l'évolution optimale de la santé mentale chez les enfants et les adolescents.

Les dispensateurs de soins pédiatriques sont souvent le premier point de contact des enfants et des adolescents aux prises avec des problèmes de santé mentale, mais ils ne possèdent pas nécessairement les ressources (p. ex., l'accès à une équipe multidisciplinaire) ni la formation nécessaires pour procéder à leur dépistage ou à leur prise en charge. Le présent document de principes conjoint décrit les principaux rôles et les principales compétences à maîtriser pour évaluer et traiter les problèmes de santé mentale chez les enfants et les adolescents, de même que les facteurs qui optimisent le plus possible l'évolution de la santé mentale dans ces groupes d'âge. Il contient des conseils fondés sur des données probantes à propos du dépistage des préoccupations en matière de santé mentale chez les jeunes et leur famille ainsi qu'à propos des échanges sur le sujet. Les interventions préventives et thérapeutiques dont l'efficacité est démontrée en milieu communautaire sont abordées. Le présent document de principes, qui est fondamental, traite également des changements à l'enseignement de la médecine ainsi qu'aux systèmes et aux politiques de santé qui s'imposent pour améliorer la pratique clinique et les efforts de revendications au Canada, y compris les modèles de rémunération appropriés, les approches des soins abordées étape par étape, le financement gouvernemental ciblé, l'enseignement et la formation professionnelle.

Navigating Challenging Conversations: The Interplay Between Inquiry and Knowledge Drives Preparation for Future Learning.

Introduction: While some physicians hone their skills through informal learning in clinical practice, others do not. There is a lack of understanding of why some physicians seek improvement and how they use the workplace context to build their capabilities. Because physicians rarely pursue formal professional development activities to improve communication skills, examining physician-patient communication offers a powerful opportunity to illuminate important aspects of preparation for future learning in the workplace. Methods: This qualitative observational study involved over 100 hours of observation of eight pediatric rehabilitation physicians as they interacted with patients and families at an academic teaching hospital in 2018-2020. Detailed field notes of observations, post-observation interviews, and exit interviews were the data sources. Data collection and analysis using a constructivist grounded theory approach occurred iteratively, and themes were identified through constant comparative analysis. Results: Through their daily work, experienced physicians employ 'habits of inquiry' by constantly seeking a better understanding of how to navigate challenging conversations in practice through monitoring and attuning to situational and contextual cues, taking risks and navigating uncertainty while exploring new and varied ways of practicing, and seeking why their strategies are successful or not. Discussion: Engaging in communication challenges drives physician learning through an interplay between habits of inquiry and knowledge: inquiry into how to improve their communication supported by existing conceptual knowledge to generate new strategies. These 'habits of inquiry' prompt continual reinvestment in problem solving to refine existing knowledge and to build new skills for navigating communication challenges in practice.

Anxiety in children and youth: Part 2-The management of anxiety disorders.

Anxiety disorders are the most common mental health concerns affecting Canadian children and adolescents. The Canadian Paediatric Society has developed two position statements that summarize current evidence regarding the diagnosis and management of anxiety disorders. Both statements offer evidence-informed guidance to support paediatric health care providers (HCPs) making decisions around the care of children and adolescents with these conditions. The objectives of Part 2, which focuses on management, are to: (1) review the evidence and context for a range of clinical approaches that combine behavioural and pharmacological interventions to effectively address impairment, (2) describe the roles of education and psychotherapy in the prevention and treatment of anxiety disorders, and (3) outline the use of pharmacotherapy, with side effects and risks. Recommendations for managing anxiety are based on current guidelines, review of the literature, and expert consensus. Note that when the word 'parent' (singular or plural) is used, it includes any primary caregiver and every configuration of family.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).

PURPOSE AND SCOPE: The aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global developmental delay (GDD), intellectual disability (ID) and/or autism spectrum disorder (ASD). This document also provides guidance for primary care and non-genetics specialists caring for these patients while awaiting consultation with a clinical geneticist or metabolic specialist. METHODS OF STATEMENT DEVELOPMENT: A multidisciplinary group reviewed existing literature and guidelines on the use of genetic and metabolic investigations for the diagnosis of NDDs and synthesised the evidence to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and to the Canadian Pediatric Society (Mental Health and Developmental Disabilities Committee); following incorporation of feedback, it was approved by the CCMG Board of Directors on 1 September 2022. RESULTS AND CONCLUSIONS: Chromosomal microarray is recommended as a first-tier test for patients with GDD, ID or ASD. Fragile X testing should also be done as a first-tier test when there are suggestive clinical features or family history. Metabolic investigations should be done if there are clinical features suggestive of an inherited metabolic disease, while the patient awaits consultation with a metabolic physician. Exome sequencing or a comprehensive gene panel is recommended as a second-tier test for patients with GDD or ID. Genetic testing is not recommended for patients with NDDs in the absence of GDD, ID or ASD, unless accompanied by clinical features suggestive of a syndromic aetiology or inherited metabolic disease.

Productive struggle and failing safely: implications for developing adaptive expertise in communication.

Navigating difficult conversations is a complex task that requires flexible and adaptive approaches. Residents developing this skill may initially struggle or fail, and require support. However, this experience may prepare residents for future learning which is essential to adaptive expertise. Limited understanding of how residents learn from failure in the workplace restricts the ability to maximize its potential benefits. The purpose of this study was to explore the role failure plays in learning to navigate difficult conversations during workplace learning. A constructivist grounded theory study was conducted using semi-structured interviews of 13 physicians (subspecialty residents and newly graduated physicians) from a Division of Developmental Paediatrics between 2017 and 2018. The authors used constant comparative analysis to identify themes iteratively. Themes were identified both inductively and deductively using the conceptual framework of adaptive expertise. Through independently leading difficult conversations, physicians were able to recognize that the failure that occurred in these encounters, prompted them to generate new knowledge which led to deeper conceptual understanding, thus supporting development of adaptive expertise. However, participants indicated that staff physicians often protect residents from difficult conversations, which limits their opportunity to receive feedback and engage in learning. Residents participate in difficult conversations that challenge them to go beyond their existing knowledge. Providing residents with opportunity to lead difficult conversations with patients and families while being supported by staff supervisors, allows for struggling through learning, which leads to a deeper conceptual understanding and supports development of adaptive expertise.

Examining the Impact of Dialogic Learning on Critically Reflective Practice.

PURPOSE: While research is beginning to reveal the potential of dialogue in sparking critical reflection (critically reflective ways of seeing), additional research is needed to guide the teaching of critical reflection toward enabling critically reflective practice (critically reflective ways of seeing and doing). An experimental study was conducted to investigate the impact of dialogic learning on critically reflective practice, compared to discussion-based learning. The dialogic intervention integrated the theory of Mikhail Bakhtin with the theory of critical reflection and critical disability studies. METHOD: In interprofessional groups of 4, medical, occupational therapy, and speech-language pathology students were randomly assigned to a learning condition that used a reflective discussion or critically reflective dialogue about a pediatric patient case. All participants were then randomly assigned a clinical report for a novel pediatric patient and asked to write a hypothetical clinical letter to the child's school. Hierarchical logistic regression models were constructed to estimate the probabilities of sentences and letters being critically reflective. RESULTS: The probability of sentences being critically reflective was significantly higher for the dialogue condition (0.26, 95% CI [0.2, 0.33]), compared to the discussion condition (0.11, 95% CI [0.07, 0.15]). Likewise, the probability of letters being critically reflective was significantly higher for the dialogue condition (0.26, 95% CI [0.15, 0.4]), compared to the discussion condition (0.04, 95% CI [0.01, 0.16]). In both conditions, the probability of a letter being critically reflective was positively associated with the proportion of critically reflective sentences. CONCLUSIONS: The results demonstrate dialogic learning prepared students to enact critically reflective practice when writing mock clinical letters. Students who participated in a dialogue engaged in a collaborative process of critical reflection and subsequently applied that way of seeing in the individual act of writing a letter. This study highlights how Bakhtin's theory of dialogue can advance critical pedagogy.

Les soins complets de l'enfant ayant la paralysie cérébrale et capable de marcher (GMFCS I et II) : une perspective canadienne.

La paralysie cérébrale (PC), qui est l'incapacité physique la plus fréquente au Canada, touche de deux à trois personnes sur 1 000. Au cours de leur carrière, les pédiatres verront et soigneront à coup sûr des enfants ayant la PC et leur famille. Le pédiatre général joue un rôle crucial dans les soins de l'enfant ayant la PC, qu'il s'agisse de poser le diagnostic ou d'assurer l'accès à une maison médicale (medical home), de garantir la coordination des soins ou de donner des conseils et des soins préventifs pour assurer sa santé et son bien-être. La fiche de santé et de bien-être en cas de PC qui accompagne le présent point de pratique peut aider à la fois le praticien et la famille de l'enfant à explorer des aspects essentiels de la santé, du fonctionnement, de la participation aux activités et du bien-être. Cette fiche peut être utilisée conjointement avec d'autres guides de promotion de la santé fondés sur des données probantes, comme le Relevé postnatal Rourke et le Relevé médical Greig, pour renseigner les cliniciens qui s'occupent d'enfants ayant la PC et capables de marcher (niveaux I et II du système de classification de la fonction motrice globale) sur des troubles et des domaines de santé particuliers.

Comprehensive care of the ambulatory child with cerebral palsy (GMFCS I and II): A Canadian perspective.

In Canada, cerebral palsy (CP) is the most common physical disability, affecting approximately 2 to 3 per 1,000 individuals. Paediatricians are sure to encounter and care for children with CP and their families. The role of the general paediatrician in caring for a child with CP is crucial, from diagnosis to providing a 'medical home', and from ensuring care coordination to delivering anticipatory guidance and preventive health and wellness care. The CP Health and Wellness Record that accompanies this practice point can assist both practitioners and children's families by exploring key areas of health, function, participation, and wellness. This record may be used alongside other evidence-based health promotion guides, such as the Rourke Baby Record and the Greig Health Record, to prompt clinicians caring for ambulatory children with CP (Gross Motor Function Classification System [GMFCS] levels I and II) on specific health issues and domains.

Exploring How Pediatric Residents Develop Adaptive Expertise in Communication: The Importance of "Shifts" in Understanding Patient and Family Perspectives.

PURPOSE: Communication with patients and families can be complex, especially in challenging discussions. To communicate effectively, expert physicians must often use flexible approaches. This innovative use of knowledge to handle complexity is an essential capability of adaptive expertise. Despite its importance for effective communication and implications for medical education, little is known about how adaptive expertise develops in trainees. The purpose of this study was to explore how pediatric residents developed adaptive expertise in communication. METHOD: A constructivist grounded theory study, using observations of physician-patient communication and semistructured interviews as data sources and purposeful sampling of 10 pediatric subspecialty residents at the University of Toronto, was conducted in 2016-2017. Data collection and analysis occurred iteratively, and themes were identified through the research team's constant comparative analysis. RESULTS: Residents navigated challenging discussions with patients and families by enabling them to express their own narratives and integrating these with their medical knowledge to provide care. At times, a "shift" in the residents' understanding of the families' perspectives was needed to effectively navigate the discussion. Residents used this shift purposefully to create new communication strategies, resulting in an opportunity for learning. CONCLUSIONS: "Shifts" are defined as adjustments in the resident's understanding of a family's perspective that affect clinical care. Analysis suggests that these "shifts" can be understood to support development of adaptive expertise. The workplace learning environment promoted this development by providing opportunities that prepared residents for future learning through active experimentation, offering multiple perspectives and enhancing deeper conceptual learning.

Value of Collaboration With Standardized Patients and Patient Facilitators in Enhancing Reflection During the Process of Building a Simulation.

INTRODUCTION: We previously reported that experienced clinicians find the process of collectively building and participating in simulations provide (1) a unique reflective opportunity; (2) a venue to identify different perspectives through discussion and action in a group; and (3) a safe environment for learning. No studies have assessed the value of collaborating with standardized patients (SPs) and patient facilitators (PFs) in the process. In this work, we describe this collaboration in building a simulation and the key elements that facilitate reflection. METHODS: Three simulation scenarios surrounding communication were built by teams of clinicians, a PF, and SPs. Six build sessions were audio recorded, transcribed, and thematically analyzed through an iterative process to (1) describe the steps of building a simulation scenario and (2) identify the key elements involved in the collaboration. RESULTS: The five main steps to build a simulation scenario were (1) storytelling and reflection; (2) defining objectives and brainstorming ideas; (3) building a stem and creating a template; (4) refining the scenario with feedback from SPs; and (5) mock run-throughs with follow-up discussion. During these steps, the PF shared personal insights, challenging participants to reflect deeper to better understand and consider the patient's perspective. The SPs provided unique outside perspective to the group. In addition, the interaction between the SPs and the PF helped refine character roles. DISCUSSION: A collaborative approach incorporating feedback from PFs and SPs to create a simulation scenario is a valuable method to enhance reflective practice for clinicians.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of "CNV-positive" trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

Promoting the Development of Adaptive Expertise: Exploring a Simulation Model for Sharing a Diagnosis of Autism With Parents.

PURPOSE: To explore how a simulation model promoted the development of integrated competencies associated with adaptive expertise in senior health professions trainees as they learned to share a diagnosis of autism with parents. METHOD: A qualitative instrumental case study method was used at the University of Toronto in 2014 to explore what eight developmental pediatrics residents and two clinical psychology interns learned from participating in a simulation model designed to enable trainees to practice sharing a diagnosis of autism with parents. This model incorporated variability (three cases), active experimentation in a safe environment, and feedback from multiple perspectives (peers, faculty, standardized patients, and a parent). Field notes were collected, and semistructured interviews were conducted to explore what participants learned. Constant comparative analysis was used to identify themes iteratively. Team analysis continued until a stable thematic structure was developed and applied to the entire data set. RESULTS: Four themes were identified. Three themes described how participating in the simulation model changed residents' and interns' approaches to sharing a diagnosis of autism with parents from using a structured, scripted framework to share the diagnosis; to being flexible within the structured framework; and, finally, to being attentive and responsive to parents by adapting and creating new approaches for sharing the diagnosis. The fourth theme described how the multiple perspectives in the simulation model prompted learners to develop adaptive approaches. CONCLUSIONS: This simulation model helped residents and interns move beyond use of a structured, scripted communication framework toward development of adaptive expertise.

Building and Participating in a Simulation: Exploring a Continuing Education Intervention Designed to Foster Reflective Practice Among Experienced Clinicians.

INTRODUCTION: Engaging health professionals in the processes of first building and then participating in simulations has not yet been explored. This qualitative study explored the experience of building and participating in a simulation as an educational intervention with experienced clinicians. METHODS: Pediatric rehabilitation clinicians, along with a patient facilitator and standardized patients, created simulations and subsequently participated in a live simulation. The educational content of the simulation was culturally sensitive communication. We collected participants' perspectives about the process from individual journal entries and focus groups. A thematic analysis of these data sources was conducted. RESULTS: Participants described a process of building and participating in a simulation that provided: 1) a unique opportunity for clinicians to reflect on their current practice; 2) a venue to identify different perspectives through discussion and action in a group; and 3) a safe environment for learning. DISCUSSION: The combined process of building and participating in a simulation stimulated reflection about the clinicians' own abilities in culturally sensitive communication through discussion, practice, and feedback. It provided a safe environment for participants to share their multiple perspectives and to develop new ways of communicating. This type of educational intervention may contribute to the continuing education of experienced clinicians in both academic and community settings.

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

BACKGROUND: Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy. PATIENT: The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0.1 percentile), attention-deficit hyperactivity disorder, and mild muscle weakness. He had elevated serum creatine kinase and dystrophic changes on muscle biopsy. Dystrophin immunohistochemistry revealed decreased staining with the C-terminal and mid-rod antibodies and essentially absent staining of the N-terminal immunostain. Sequencing of muscle mRNA revealed aberrant splicing due to a c.10797+5G > A mutation in DMD. CONCLUSION: Dystrophinopathy may be associated with predominantly cognitive impairment and neurobehavioral disorder, and should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males.

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Microdeletion of the BP1-BP2 region at 15q11.2 is a recurrent copy number variant (CNV) frequently found in patients undergoing chromosomal microarray (CMA). Genetic counselling regarding this CNV is challenging due to the wide range of phenotypic presentation in reported patients and lack of general population-based data. As one of the most common reasons for CMA is childhood developmental delay, clinicians need to be cognizant of the inherent ascertainment bias in the literature. We performed a detailed medical record review for 55 patients with this 15q11.2 microdeletion and report the clinical features of the 35 patients for whom information was available. We compared our results to the recent report by Cafferkey et al. in this journal. Our conclusion is that the phenotypic spectrum is too broad and non-specific to constitute a bona fide "syndrome" and that further research must be done to delineate the contribution of this CNV to phenotype.

Integrating competencies: exploring complex problem solving through case formulation in developmental pediatrics.

PURPOSE: To understand how experienced clinicians formulate cases and to use this understanding to explore the broader processes involved in how clinicians solve complex problems in their daily work. Case formulation is a process that allows clinicians to provide a tentative explanation for why a patient with a certain condition presents in a particular way at a particular time. METHOD: In this constructivist grounded theory study, the authors conducted semistructured interviews with 12 physicians (9 experienced clinicians, 3 new graduates and residents) from the University of Toronto Division of Developmental Pediatrics between July and December 2012. They used a constant comparative analysis to identify themes and iteratively developed a thematic structure, which one researcher applied to the entire data set. They maintained a detailed audit trail throughout the process. RESULTS: Experienced clinician participants articulated three interconnected themes that characterize their complex problem solving during case formulation: (1) interpreting individual patient factors in the context of medical and clinical knowledge, (2) strategically co-constructing the case formulation with parents and team members, and (3) refining the case formulation over time. CONCLUSIONS: Findings suggest that these interpretive, strategic, and longitudinal processes appear to be central to the complex problem solving of experienced clinicians engaged in case formulation. They illuminate how clinicians integrate multiple competencies when they solve complex problems in their daily work. Exploring this integration of competencies has broader implications for understanding expertise and expert development and may inform pedagogical practices that promote the development of complex problem solving in trainees.