RESUMEN
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.
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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.
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The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal functions. Specifically, SETD2 is associated with trimethylation of histone H3 at lysine 36 (H3K36me3) and methylation of α-tubulin at lysine 40. Heterozygous loss of function and missense variants have previously been described with Luscan-Lumish syndrome (LLS), which is characterized by overgrowth, neurodevelopmental features, and absence of overt congenital anomalies. We have identified 15 individuals with de novo variants in codon 1740 of SETD2 whose features differ from those with LLS. Group 1 consists of 12 individuals with heterozygous variant c.5218C>T p.(Arg1740Trp) and Group 2 consists of 3 individuals with heterozygous variant c.5219G>A p.(Arg1740Gln). The phenotype of Group 1 includes microcephaly, profound intellectual disability, congenital anomalies affecting several organ systems, and similar facial features. Individuals in Group 2 had moderate to severe intellectual disability, low normal head circumference, and absence of additional major congenital anomalies. While LLS is likely due to loss of function of SETD2, the clinical features seen in individuals with variants affecting codon 1740 are more severe suggesting an alternative mechanism, such as gain of function, effects on epigenetic regulation, or posttranslational modification of the cytoskeleton. Our report is a prime example of different mutations in the same gene causing diverging phenotypes and the features observed in Group 1 suggest a new clinically recognizable syndrome uniquely associated with the heterozygous variant c.5218C>T p.(Arg1740Trp) in SETD2.
Asunto(s)
Predisposición Genética a la Enfermedad , N-Metiltransferasa de Histona-Lisina/genética , Discapacidad Intelectual/genética , Trastornos del Neurodesarrollo/genética , Tubulina (Proteína)/genética , Niño , Preescolar , Codón/genética , Epigénesis Genética/genética , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Discapacidad Intelectual/patología , Mutación con Pérdida de Función/genética , Masculino , Mutación Missense , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/patología , Trastornos del Neurodesarrollo/fisiopatologíaRESUMEN
Attention-deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder. Three position statements have been developed by the Canadian Paediatric Society, following systematic literature reviews. Statement objectives are to: 1) Summarize the current clinical evidence regarding ADHD,2) Establish a standard for ADHD care, and3) Assist Canadian clinicians in making well-informed, evidence-based decisions to enhance care of children and youth with this condition. Specific topics reviewed in Part 3, which focuses on associated autism spectrum disorder, intellectual disability, and prematurity, include the challenges of diagnostic assessment, common presentations, the role of genetics, and treatment, including the benefits of physical activity. Recommendations are based on current guidelines, evidence from the literature, and expert consensus.
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Global developmental delay (GDD) and intellectual disability (ID) are common concerns in the paediatric setting. Etiologies of both conditions are highly heterogeneous. The American Academy of Pediatrics, the American Academy of Neurology and the British Columbia-based Treatable Intellectual Disability Endeavor (TIDE) protocol have each proposed multitiered investigations of GDD/ID to guide physicians toward an understanding of etiology that optimizes therapeutic yield. This statement provides a framework for the clinical investigation of GDD/ID in children, along with an updated protocol for Canadian physicians to follow in the etiological investigation of GDD/ID. The revised protocol is based on current knowledge and existing guidelines. Key elements of investigation include formal vision and hearing testing, chromosomal microarray, Fragile-X DNA testing and first-tier testing for treatable inborn errors of metabolism. Brain imaging is recommended in the presence of specific neurological findings.
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Attention-deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder. Three position statements have been developed by the Canadian Paediatric Society, following systematic literature reviews. Statement objectives are to: 1) Summarize the current clinical evidence regarding ADHD,2) Establish a standard for ADHD care, and3) Assist Canadian clinicians in making well-informed, evidence-based decisions to enhance care of children and youth with this condition. Specific topics reviewed in Part 2, which focuses on treatment, include: evidence and context for a range of clinical approaches, combining behavioural and pharmacological interventions to address impairment more effectively, the role of parent and teacher (or other caregiver) training, the use of stimulant and nonstimulant medications, with effects and risks, and dosing and monitoring protocols. Treatment recommendations are based on current guidelines, evidence from the literature, and expert consensus.
RESUMEN
Attention-deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder. Three position statements have been developed by the Canadian Paediatric Society, following systematic literature reviews. Statement objectives are to: 1) Summarize the current clinical evidence regarding ADHD,2) Establish a standard for ADHD care, and3) Assist Canadian clinicians in making well-informed, evidence-based decisions to enhance care of children and youth with this condition. Specific topics reviewed in Part 1, which focuses on diagnosis, include: prevalence, genetics, pathophysiology, differential diagnosis and comorbid psychiatric disorders and developmental disorders. In addition to database searches, the most recent guidelines of the American Academy of Pediatrics, the American Academy of Child and Adolescent Psychiatry, the National Institute for Health and Clinical Excellence, the Scottish Intercollegiate Guidelines Network, and the Eunethydis European ADHD Guidelines Group, were reviewed. Because ADHD is a heterogeneous disorder, comprehensive medical assessment for ADHD should always include a complete history, a physical examination, and a thorough consideration of differential diagnosis and related comorbidities. Specific recommendations for information gathering, testing, and referral are offered.
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OBJECTIVE: To develop evidence-based guidelines on pharmacotherapy for severe disruptive and aggressive behaviour in children and adolescents with attention-deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), or conduct disorder (CD). The guidelines assume that psychosocial interventions have been pursued but did not achieve sufficient improvement. METHOD: A multidisciplinary consensus group used the Grading of Recommendations Assessment, Development and Evaluation approach for rating evidence quality and for grading recommendations. We conducted a systematic review of medications studied in placebo-controlled trials for treating disruptive and aggressive behaviour in children and adolescents with ADHD, ODD, or CD. We followed consensus procedures to make 1 of 4 recommendations for each medication: strong, in favour (↑↑); conditional, in favour (↑?); conditional, against (↓?); and strong, against (↓↓). RESULTS: For children and adolescents with disruptive or aggressive behaviour associated with ADHD, psychostimulants received a strong recommendation in favour of use, while atomoxetine and alpha-2 agonists received a conditional recommendation in favour of use. If these patients do poorly with ADHD medications, the medication with the most evidence is risperidone. Risperidone also has the most evidence for treating disruptive or aggressive behaviour in the absence of ADHD. However, given risperidone's major adverse effects, it received only a conditional recommendation in favour of use. We recommended against using quetiapine, haloperidol, lithium, or carbamazepine because of the poor quality of evidence and their major adverse effects. CONCLUSION: When severe disruptive or aggressive behaviour occurs with ADHD, medications for ADHD should be used first. Other medications have major adverse effects and, with the exception of risperidone, very limited evidence to support their use.
Asunto(s)
Agresión/efectos de los fármacos , Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Déficit de la Atención y Trastornos de Conducta Disruptiva/tratamiento farmacológico , Trastorno de la Conducta/tratamiento farmacológico , Guías de Práctica Clínica como Asunto/normas , Adolescente , Canadá , Niño , HumanosRESUMEN
OBJECTIVE: Primary care practitioners determine access to care for many preschool children with mental health (MH) problems. This study examined rates of mental health (MH) problem identification in preschoolers within primary healthcare settings, related service use, and MH status at follow-up. The findings may inform evidence-based policy and practice development for preschool MH. METHOD: For this systematic review, MEDLINE®, EMBASE®, PsycInfo®, and ERIC ® were searched from inception to March 7, 2018 for reports in which a screening measure was used to identify MH problems in children aged 24-72 months, seen in primary and community health care settings. Meta-analyses, using random effects models to provide pooled estimates, were used when three or more studies examined identification rates. Findings on service use and persistence of disorders are summarized. RESULTS: Thirty-five publications representing 21 studies met the inclusion criteria. MH problems were identified in 17.6% of preschoolers (95% Confidence Interval (CI): 11.1-24.1), Q = 4.9, p > 0.1 by primary/community healthcare practitioners. Psychiatric diagnoses were identified in 18.4% of preschoolers (95% CI: 12.3 - 24.4), Q= 1.6, p > 0.1. Based on three studies, parents of 67-72% of identified children received advice and 26-42% received specialist referrals. In the subset of studies examining persistence of MH disorders, 25-67% of identified children had MH disorders after one to three years. CONCLUSION: While the identification rate by primary/community practitioners is similar to the diagnostic rate, these may not consistently be the same children. Substantial variability in management and outcomes indicate need for more rigorous evaluation of primary care services for this population.
OBJECTIF: Les praticiens des soins primaires déterminent l'accès aux soins pour de nombreux enfants d'âge préscolaire souffrant de problèmes de santé mentale (SM). La présente étude a examiné les taux d'identification des problèmes de SM chez les enfants d'âge préscolaire dans le contexte de soins primaires, de l'utilisation des services connexes et de l'état de la SM au suivi. Les résultats peuvent éclairer l'élaboration des politiques et des pratiques fondées sur des données probantes pour la SM préscolaire. MÉTHODE: La recherche pour cette revue systématique a été menée dans MEDLINE®, EMBASE®, PsycInfo®, et ERIC ® du début au 7 mars 2018, et ciblait des études utilisant une mesure de dépistage pour identifier les problèmes de santé mentale chez les 24 à 72 mois, vus dans les soins primaires et communautaires. Les méta-analyses, utilisant des modèles à effets aléatoires pour produire des estimations regroupées, ont été utilisées quand trois ou plusieurs études examinaient les taux d'identification. Les résultats de l'utilisation des services et de la persistance des troubles sont résumés. RÉSULTATS: Trente-cinq publications représentant 21 études satisfaisaient aux critères d'inclusion. Des problèmes de SM ont été identifiés chez 17,6% des enfants d'âge préscolaire (intervalle de confiance IC à 95%: 11,1 à 24,1; Q = 4,9, p > 0,1) par des praticiens des soins primaires/communautaires. Des diagnostics psychiatriques ont été posés chez 18,4 % des enfants d'âge préscolaire (IC à 95%: 12,3 à 24,4; Q = 1,6; p > 0,1). Selon trois études, les parents de 67 à 72% des enfants identifiés recevaient des conseils, 26 à 42 % étaient adressés à des spécialistes. Dans le sous-ensemble des études qui examinaient la persistance des troubles de SM, 25% à 67% des enfants identifiés avaient des troubles de SM d'ici 1 à 3 ans. CONCLUSION: Même si le taux d'identification par les praticiens des soins primaires /communautaires est semblable au taux de diagnostics, il ne s'agit peut-être pas constamment des mêmes enfants. La variabilité substantielle de la prise en charge et des résultats indique le besoin d'une évaluation plus rigoureuse des services de soins primaires pour cette population.
RESUMEN
Attention-deficit/hyperactivity disorder (ADHD) is the most prevalent behavioral disorder in children and the pathophysiology remains obscure. In addition to the pharmacotherapy, which is the primary treatment of ADHD, nutritional intervention may have a significant impact on ADHD symptoms. We studied lipid and lipoprotein profiles, fatty acid (FA) composition, and oxidant-antioxidant status in 37 pediatric ADHD patients and 35 healthy control subjects. Our results show that plasma triacylglycerols and phospholipids were lower, whereas free cholesterol, HDL, and apolipoprotein A-I were higher in ADHD patients compared with controls. The proportion of plasma EPA and DHA was higher, but that of oleic and alpha-linolenic (ALA) acids was lower. As expected from these findings, the proportions of both total saturates and polyunsaturates fatty acids (PUFA) were higher and lower, respectively, in ADHD patients than in controls, which led to a significant decrease in the PUFAs/saturates ratio. On the other hand, the ratios of eicosatrienoic acid to arachidonic acid and of palmitoleic acid to linoleic acid, established indexes of essential fatty acid (EFA) status remained unchanged revealing that EFA did not affect ADHD patients. Similarly, the activity of delta-6 desaturase, estimated by the ratio of 18:2(n-6)/20:4(n-6), was found unaffected, whereas ALA/EPA was diminished. Lessened lipid peroxidation was noted in ADHD subjects as documented by the diminished values of plasma malondialdehyde accompanied by increased concentrations of gamma-tocopherol. In conclusions, significant changes occur in the lipid and lipoprotein profiles, as well as in the oxidant-antioxidant status of ADHD patients, however, the FA distribution does not reflect n-3 FA deficiency.