Implementation and evaluation of a longitudinal diabetes educational programme for adolescents.

INTRODUCTION: International guidelines recommend structured and continuous educational programmes to expand diabetes knowledge and self-efficacy in youth. To address these recommendations within a paediatric diabetes clinic, we conducted a three-phase quality improvement project aimed at improving adolescents' confidence in diabetes self-management skills. METHODS: In phase 1, the Diabetes Learning Centre (DLC), an educational programme for adolescents with type 1 diabetes (T1D) ages 13-17 years, was developed and implemented. Programme feasibility was evaluated through programme attendance rates. Phase 2 aimed to guide ongoing programme development and optimisation. DLC attendees rated their baseline confidence in overall and individual T1D self-management skills on a 5-point Likert scale. Patient characteristics were summarised using descriptive statistics and the association between patient characteristics and overall confidence in T1D self-management was evaluated. Phase 3 used patient surveys to evaluate patient satisfaction and reported change in confidence in self-management skills following DLC attendance. RESULTS: In phase 1, 232 (81%) of eligible adolescents attended the DLC during the study period. In phase 2, median overall confidence in diabetes management on a Likert scale (0-4) was 3, representing 'quite confident', although confidence was low in some essential self-management skills. Higher confidence was associated with lower HbA1c (p<0.001). In phase 3, 77 (85%) of participants reported high levels of satisfaction with the DLC. 106 (82%) of completed worksheets were associated with improved confidence in the diabetes self-management skill addressed. CONCLUSIONS: Implementation of a longitudinal T1D educational model was feasible with good uptake in an existing T1D programme. While confidence at baseline was quite high for overall T1D self-management, it was low in some essential self-management skills, highlighting the need for this programme and specific educational gaps. Adolescents reported improvements in confidence and high levels of satisfaction following DLC attendance. Our model provides a replicable programme template to address longitudinal education needs.

Transient vs Permanent Congenital Hypothyroidism in Ontario, Canada: Predictive Factors and Scoring System.

CONTEXT: The apparent increased incidence of congenital hypothyroidism (CH) is partly due to increased detection of transient disease. OBJECTIVE: This work aims to identify predictors of transient CH (T-CH) and establish a predictive tool for its earlier differentiation from permanent CH (P-CH). METHODS: A retrospective cohort study was conducted of patients diagnosed with CH from 2006 to 2015 through Newborn Screening Ontario (NSO). RESULTS: Of 469 cases, 360 (76.8%) were diagnosed with P-CH vs 109 (23.2%) with T-CH. Doses of levothyroxine predicting T-CH were less than 3.9 µg/kg at age 6 months, less than 3.0 µg/kg at ages 1 and 2 years, and less than 2.5 µg/kg at age 3 years. Descriptive statistics and multivariable logistic modeling demonstrated several diverging key measures between patients with T-CH vs P-CH, with optimal stratification at age 1 year. Thyroid imaging was the strongest predictor (P < .001). Excluding imaging, significant predictors in the first year of life included thyroxine dose/kg (P < .001-.002), increase in thyrotropin (TSH) above the reference interval during treatment (P = .002), screening TSH (P = .03), and a history of maternal thyroid disease (P = .02). Based on the 1-year model without imaging, a risk score was developed to identify children with T-CH who may benefit from an earlier trial off therapy, to reduce excess medicalization and health care costs. CONCLUSION: A levothyroxine dose of less than 3 µg/kg at ages 1 and 2 years and less than 2.5 µg/kg at age 3 years can be predictive of T-CH. A novel risk score was developed that can be clinically applied to predict the likelihood of a successful trial off therapy for a given patient at age 1 year.

An innovative on-call system for paediatric residency programs: The alternate night float.

BACKGROUND: Night-float systems, in which residents work consecutive nights, have been increasingly adopted in paediatric programs, but may be detrimental to residents' sleep and mood. OBJECTIVE: To describe the self-reported impact of a novel system consisting of two consecutive weeks of 16 h overnight shifts every second day that was piloted at the Children's Hospital of Eastern Ontario (Ottawa, Ontario). METHODS: A survey of 28 senior paediatric residents examined their experience with the alternate night-float system in three domains (patient care, resident professional development and well-being) and their comparison of the system with the traditional overnight on-call system. RESULTS: Twenty-six of 28 residents responded. Nearly all (96%) felt familiar with important details of inpatients and that handover was effective (92%). Results were mixed for professional development, with concerns about the quality of supervisors' feedback and perceived difficulty in attending daytime teaching. All residents believed that the night-float system provided a better learning experience compared with the traditional system. Less than 35% considered fatigue to be a notable problem, although 20% increased use of sleep aids or stimulants beyond their typical use. Ninety-six percent believed their workload was appropriate. All residents felt equally or less fatigued under the night-float system compared with the traditional system. Ninety-six percent recommended that the night-float model continue as the on-call system. CONCLUSIONS: This novel night-float system is an alternative method of providing paediatric inpatient night coverage because it meets duty hour regulations and has strong resident approval. Studies to examine its impact on residents and patient care in comparison with other systems are warranted.

HISTORIQUE: Les systèmes de garde de nuit, dans le cadre desquels les résidents travaillent plusieurs nuits consécutives, sont de plus en plus fréquents dans les programmes de pédiatrie, mais ils peuvent nuire au sommeil et à l'humeur des résidents. OBJECTIF: Décrire les répercussions autodéclarées d'un nouveau système constitué de deux semaines consécutives de quarts de nuit de 16 heures tous les deux jours, piloté à Ottawa, au Centre hospitalier pour enfants de l'est de l'Ontario. MÉTHODOLOGIE: Dans un sondage auprès de 28 résidents seniors en pédiatrie, les chercheurs ont examiné l'expérience de ces résidents au sein du système de garde de nuit tous les deux jours (soins aux patients, bien-être des résidents et perfectionnement professionnel) et les comparaisons que ces résidents ont faites avec le système de garde de nuit habituel. RÉSULTATS: Vingt-six des 28 résidents ont répondu. Presque la totalité (96 %) connaissait l'information importante sur les patients hospitalisés et trouvait le transfert des soins efficace (92 %). Les résultats étaient mitigés à l'égard du perfectionnement professionnel, car les résidents se préoccupaient de la qualité de la rétroaction des superviseurs et trouvaient difficile d'assister à l'enseignement pendant la journée. Tous les résidents trouvaient que le système de garde de nuit assurait une meilleure expérience d'apprentissage que le système habituel. Moins de 35 % considéraient la fatigue comme un problème notable, même si 20 % utilisaient plus d'aides au sommeil ou de stimulants qu'à l'habitude. De plus, 96 % trouvaient leur charge de travail adéquate. Tous les résidents se sentaient aussi fatigués ou moins fatigués dans le système de garde de nuit que dans le système habituel. Enfin, 96 % recommandaient d'adopter le modèle de garde de nuit comme système de garde. CONCLUSIONS: Ce nouveau système de garde de nuit est une autre méthode pour assurer les services nocturnes auprès des enfants hospitalisés. Il respecte la réglementation sur les heures de garde et est fortement approuvé par les résidents. Des études s'imposent pour en examiner les effets sur les résidents et les soins aux patients par rapport aux autres systèmes.

Managing type 1 diabetes in school: Recommendations for policy and practice.

Diabetes requiring insulin is increasingly common and likely to impact students in most, if not all, schools. Diabetes and its complications have major personal, social and economic impact, and improved diabetes control reduces the risk of both short- and long-term complications. Evidence shows that more intensive management of diabetes - through frequent blood glucose monitoring, insulin administration with injections and/or insulin pumps, and careful attention to diet and exercise - leads to better control. Since children spend 30 to 35 hours per week at school, effectively managing their diabetes while there is integral to their short- and long-term health. The Canadian Paediatric Society and the Canadian Pediatric Endocrine Group recommend that minimum standards for supervision and care be established across Canada to support children and youth with type 1 diabetes in schools. These recommendations are derived from evidence-based clinical practice guidelines, with input from diabetes care providers from across Canada, and are consistent with the Canadian Diabetes Association's Guidelines for the Care of Students Living with Diabetes at School.

Chez les enfants, la présence d'un diabète nécessitant l'insuline pour traitement est de plus en plus fréquente. De fait, il est fort probable que la majorité des écoles canadiennes ait au moins un élève touché par cette maladie. Le diabète et ses complications ont des répercussions personnelles, sociales et économiques majeures. Cependant, une meilleure maîtrise du diabète réduit les risques de complications à court et long terme. Il a été démontré qu'une prise en charge plus intensive du diabète ­ par une surveillance régulière de la glycémie, l'administration d'insuline par injection ou pompe à insuline et une attention particulière à l'alimentation et à l'activité physique ­ en facilite la maîtrise. Comme les enfants passent de 30 à 35 heures par semaine à l'école, il est essentiel pour leur santé que la prise en charge de leur diabète y soit efficace. La Société canadienne de pédiatrie et le Groupe canadien d'endocrinologie pédiatrique recommandent d'établir des normes minimales pancanadiennes de supervision et de soins pour aider les enfants et les adolescents atteints de diabète de type 1 dans les écoles. Ces recommandations ont été inspirées de lignes directrices de pratique clinique fondées sur des données probantes et de la contribution des cliniciens du domaine des soins en diabète pédiatrique de tout le Canada. Elles respectent les Guidelines for the Care of Students Living with Diabetes at School [lignes directrices pour les soins aux élèves diabétiques à l'école] de l'Association canadienne du diabète.

Free thyroxine and thyroid-stimulating hormone reference intervals in very low birth weight infants at 3-6 weeks of life with the Beckman Coulter Unicel DxI 800.

OBJECTIVES: To establish reference intervals for thyroid stimulating hormone (TSH) and free thyroxine (FT4) at 3-6 weeks of age in very low birth weight (VLBW) infants with the Beckman Coulter Unicel DxI 800 by gender, birth weight (BW) and gestational age (GA) subgroups. DESIGN AND METHODS: A 4 year retrospective cohort of 308 VLBW infants (GA=27.9 weeks, BW=992.3g) was studied. All blood samples for TSH and FT4 were analyzed using the modified fTSH2 (TSH) and two-step competitive enzyme immunoassay (FT4). Reference intervals were evaluated according to the most recent Clinical and Laboratory Standards Institute (CLSI) guidelines. RESULTS: The study provides non-parametric 95% reference intervals with associated 90% confidence intervals for FT4 and TSH derived from 308 infants screened at a median of 31 days. The reference intervals for this population are TSH=1.14-11.04 mIU/L and FT4=10.9-21.4 pmol/L. TSH statistically differed according to birth weight (<1000 g vs 1000-1499 g) while FT4 differed according to gender and gestational age at time of testing (<32 weeks vs ≥ 32 weeks); however, these differences were not clinically significant and a single reference interval for each analyte is reported. CONCLUSION: The results of this study highlight the importance and complexity of establishing appropriate reference intervals for thyroid function testing for the preterm population.

Specific combination of compound heterozygous mutations in 17ß-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

BACKGROUND: D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients with prolonged survival all demonstrate severe gross motor delay, absent language development, and severe hearing and visual impairment. DBP contains three catalytically active domains; an N-terminal dehydrogenase, a central hydratase and a C-terminal sterol carrier protein-2-like domain. Three subtypes of the disease are identified based upon the domain affected; DBP type I results from a combined deficiency of dehydrogenase and hydratase activity; DBP type II from isolated hydratase deficiency and DBP type III from isolated dehydrogenase deficiency. Here we report two brothers (16½ and 14 years old) with DBP deficiency characterized by normal early childhood followed by sensorineural hearing loss, progressive cerebellar and sensory ataxia and subclinical retinitis pigmentosa. METHODS AND RESULTS: Biochemical analysis revealed normal levels of plasma VLCFA, phytanic acid and pristanic acid, and normal bile acids in urine; based on these results no diagnosis was made. Exome analysis was performed using the Agilent SureSelect 50Mb All Exon Kit and the Illumina HiSeq 2000 next-generation-sequencing (NGS) platform. Compound heterozygous mutations were identified by exome sequencing and confirmed by Sanger sequencing within the dehydrogenase domain (c.101C>T; p.Ala34Val) and hydratase domain (c.1547T>C; p.Ile516Thr) of the 17ß-hydroxysteroid dehydrogenase type 4 gene (HSD17B4). These mutations have been previously reported in patients with severe-forms of DBP deficiency, however each mutation was reported in combination with another mutation affecting the same domain. Subsequent studies in fibroblasts revealed normal VLCFA levels, normal C26:0 but reduced pristanic acid beta-oxidation activity. Both DBP hydratase and dehydrogenase activity were markedly decreased but detectable. CONCLUSIONS: We propose that the DBP phenotype seen in this family represents a distinct and novel subtype of DBP deficiency, which we have termed type IV based on the presence of a missense mutation in each of the domains of DBP resulting in markedly reduced but detectable hydratase and dehydrogenase activity of DBP. Given that the biochemical testing in plasma was normal in these patients, this is likely an underdiagnosed form of DBP deficiency.

Incorporating CanMEDS and subspecialty training into paediatric residency programs: Why are we still deficient?

BACKGROUND: The Royal College of Physician and Surgeons of Canada mandates that paediatric training programs in Canada incorporate subspecialty training and the teaching and evaluation of the seven CanMEDS roles into their curriculum. The literature suggests that newly practicing paediatricians feel inadequately prepared in many subspecialties and CanMEDS roles. HYPOTHESIS: That either current training programs underestimate the importance of these areas for future practice, or that residents themselves feel that these areas are less important. METHOD: An online survey of Canadian paediatric residents and paediatric residency program directors was conducted to determine their views on various subspecialty areas and CanMEDS roles. RESULTS: Fourteen of 16 Canadian paediatric programs participated, and 127 of 486 (26%) paediatric residents completed the survey. Overall, trainees were satisfied with their current training (86%), and 90% believed they would be adequately prepared for independent practice. Forty-six residents (40%) believed training programs place less importance on 10 of the subspecialties that newly practicing paediatricians felt less comfortable with (from a previous study conducted in 2006). However, at least 25% of residents themselves placed less importance on nine of these 10 areas. Residents also place less importance on two CanMEDS competencies which practicing paediatricians felt less comfortable with, including the medical aspects of palliative care (medical expert) and managing an efficient office practice (manager). CONCLUSIONS: Residents and programs place less importance on specific areas of paediatric training, thus creating potential deficiencies in graduating paediatricians. Promotion of these topics during training may better prepare residents for future practice.

A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).

We report on a girl with partial deletion of Xp and partial duplication of 22q. Family studies demonstrate that both the patient's mother and her nonidentical twin sister carry the corresponding balanced translocation; 46,X,t(X;22)(p11.4;q11.2). This girl has developmental delay, microcephaly, mild dysmorphisms and hearing loss but otherwise shows few of the features described in individuals with duplications of the long arm of chromosome 22. She does manifest characteristics, such as short stature and biochemical evidence of ovarian failure, which are seen in partial or complete Xp deletions and Turner's syndrome.

Population-based study of incidence and risk factors for cerebral edema in pediatric diabetic ketoacidosis.

OBJECTIVES: To determine incidence, outcomes, and risk factors for pediatric cerebral edema with diabetic ketoacidosis (CEDKA) in Canada. STUDY DESIGN: This was a case-control study nested within a population-based active surveillance study of CEDKA in Canada from July 1999 to June 2001. Cases are patients with DKA <16 years of age with cerebral edema. Two unmatched control subjects per case are patients with DKA without cerebral edema. RESULTS: Thirteen cases of CEDKA were identified over the surveillance period for an incidence rate of 0.51%; 23% died and 15% survived with neurologic sequelae. CEDKA was present at initial presentation of DKA in 19% of cases. CEDKA was associated with lower initial bicarbonate ( P = .001), higher initial urea ( P = .001), and higher glucose at presentation ( P = .014). Although there was a trend to association with higher fluid rates and treatment with bicarbonate, these were not independent predictors. CONCLUSIONS: CEDKA remains a significant problem with a high mortality rate. No association was found between the occurrence of CEDKA and treatment factors. The presence of cerebral edema before treatment of DKA and the association with severity of illness suggest that prevention of DKA is the key to avoiding this devastating complication.

Diagnosis and treatment of diabetic ketoacidosis in children and adolescents.

Diabetic ketoacidosis (DKA) continues to be a common presentation of both type 1 and type 2 diabetes in children and adolescents. Early recognition and treatment in patients with new-onset diabetes are essential to the prevention of this potentially life-threatening complication of diabetes. DKA management protocols for paediatric patients differ from adult protocols, and therefore, it is important to have clear written guidelines and that in-patient care occur in centres with experience in the management of paediatric DKA. The present article outlines recommendations regarding the diagnosis and management of DKA. It also discusses management guidelines for intercurrent illness, with a view to reducing the frequency of DKA in children and adolescents with established diabetes.

Beneficial effects of raloxifene and tamoxifen in the treatment of pubertal gynecomastia.

OBJECTIVES: To assess the efficacy of the anti-estrogens tamoxifen and raloxifen in the medical management of persistent pubertal gynecomastia. STUDY DESIGN: Retrospective chart review of 38 consecutive patients with persistent pubertal gynecomastia who presented to a pediatric endocrinology clinic. Patients received reassurance alone or a 3- to 9-month course of an estrogen receptor modifier (tamoxifen or raloxifene). RESULTS: Mean (SD) age of treated subjects was 14.6 (1.5) years with gynecomastia duration of 28.3 (16.4) months. Mean reduction in breast nodule diameter was 2.1 cm (95% CI 1.7, 2.7, P <.0001) after treatment with tamoxifen and 2.5 cm (95% CI 1.7, 3.3, P <.0001) with raloxifene. Some improvement was seen in 86% of patients receiving tamoxifen and in 91% receiving raloxifene, but a greater proportion had a significant decrease (>50%) with raloxifene (86%) than tamoxifen (41%). No side effects were seen in any patients. CONCLUSION: Inhibition of estrogen receptor action in the breast appears to be safe and effective in reducing persistent pubertal gynecomastia, with a better response to raloxifene than to tamoxifen. Further study is required to determine that this is truly a treatment effect.