Little is known about the pattern of genetic testing and frequency of genetic diagnoses among children enrolled in structured complex care programs (CCPs). Such information may inform the suitability of emerging genome diagnostics for this population. The objectives were to describe the proportion of children with undiagnosed genetic conditions despite genetic testing and measure the testing period, types and costs of genetic tests used. A retrospective analysis of 420 children enrolled in Toronto’s Hospital for Sick Children’s CCP from January 2010 until June 2014 was conducted. Among those who underwent genetic testing (n = 319; 76%), a random sample of 20% (n = 63) was further analyzed. A genetic diagnosis was confirmed in 48% of those who underwent testing. Those with no genetic diagnosis underwent significantly more genetic tests than those with a confirmed genetic diagnosis [median interquartile range (IQR): six tests (4–9) vs. three tests (2–4), p = 0.002], more sequence-level tests and a longer, more expensive testing period than those with a genetic diagnosis [median (IQR): length of testing period: 4.12 years (1.73–8.42) vs. 0.35 years (0.12–3.04), p < 0.001; genetic testing costs C$8496 ($4399–$12,480) vs. C$2614 ($1605–$4080), p < 0.001]. A genetic diagnosis was not established for 52% of children. Integrating genome-wide sequencing into clinical care may improve diagnostic efficiency and yield in this population.

With the decline in age at onset of puberty and increasing prevalence of childhood obesity, early breast development in young, obese girls has become a more frequent occurrence. Here, we examine available literature to answer a series of questions regarding how obesity impacts the evaluation and management of precocious puberty. We focus on girls as the literature is more robust, but include boys where literature permits.Suggestions include: (1) Age cut-offs for evaluation of precocious puberty should not differ substantially from those used for non-obese children. Obese girls with confirmed thelarche should be evaluated for gonadotropin-dependent, central precocious puberty (CPP) to determine if further investigation or treatment is warranted. (2) Basal luteinizing hormone (LH) levels remain a recommended first-line test. However, if stimulation testing is utilized, there is a theoretical possibility that the lower peak LH responses seen in obesity could lead to a false negative result. (3) Advanced bone age (BA) is common among obese girls even without early puberty; hence its diagnostic utility is limited. (4) Obesity does not eliminate the need for MRI in girls with true CPP. Age and clinical features should determine who warrants neuroimaging. (5) BA can be used to predict adult height in obese girls with CPP to inform counselling around treatment. (6) Use of gonadotropin-releasing hormone analogues (GnRHa) leads to increased adult height in obese girls. (7) Obesity should not limit GnRHa use as these agents do not worsen weight status in obese girls with CPP.

Introduction/Background Asthma education and action plans have been shown to improve compliance and symptom control. Provincial guidelines, created in 2015, included asthma action plans, but use of these resources across our site was not consistent. Objectives The objectives of this study were to develop and implement an asthma education package, standardize discharge instructions and improve appropriate referrals to Asthma Clinics. Design/Methods Using process mapping, staff surveys and patient interviews, we undertook a current state analysis. The resulting change ideas were implemented between October 2018 and January 2020 in 5 PDSA (Plan Do Study Act) cycles, utilizing chart reviews and a standardized data tool to measure outcomes. Rates of repeat Emergency Department (ED) attendances, 2 weeks following the initial encounter and overall rates of ED asthma visits were assessed, using patient medical record data. Results Two-hundred-and-twenty-five ED presentations were reviewed, 65.2% (146/224) had a previous diagnosis of asthma. 48.9% (110/225) reported using an inhaled corticosteroid (ICS) at presentation. 89.7% (201/224) had not seen a healthcare provider during this acute illness. Asthma action plan utilization increased from 0% at baseline to an average of 60%, sustained over 2 years. 74.2% (167/225) had an ICS prescribed or advised at discharge. Only 3.8% (8/209) of patients re-presented to an ED within 2 weeks of this asthma visit. 57.3% (129/225) children were referred for ongoing pediatric care: either by a community pediatrician (72.9%; 94/129) or our hospital Asthma Clinic (34.8%; 32/129). Between 2017 and 2019, there was no significant change in total asthma presentations to our ED/per year (1300, 1395 and 1307, respectively) (Figure 1). Conclusion A standardized asthma education package including pre-printed discharge resources, asthma action plans, and a provincially adopted, multi-language education video was successfully implemented into our ED. This demonstrates a multi-disciplinary approach to asthma education that can be utilized across the province. Our data highlights the need for a strong community-based approach for asthma care, and further work is ongoing to assess the efficacy of this education package on medication compliance and recurrent ED visits.

ObjectivesPrimary objective was to describe the cumulative incidence of severe hypoglycaemia in paediatric patients with cancer. Secondary objectives were to determine risk factors for severe hypoglycaemia and to describe its clinical course and management.MethodsIn this single institution retrospective study, for the cumulative incidence cohort, we included cancer diagnosis and hypoglycaemia episodes between June 2018 and November 2021. For the chart review cohort, we included cancer diagnosis January 2009–November 2021 and hypoglycaemia episodes June 2018–November 2021.ResultsThere were 1237 cancer diagnoses and 142 patients with severe hypoglycaemia in the cumulative incidence cohort. Cumulative incidence at 6 months after cancer diagnosis was 9.4% (95% CI 7.7% to 11.0%). Severe hypoglycaemia incidence significantly increased over time (r=0.77, p=0.004). Independent risk factors were age at diagnosis (HR 0.88, 95% CI 0.85 to 0.91); acute lymphoblastic leukaemia (HR 3.06, 95% CI 2.19 to 4.29) and relapse (HR 9.54, 95% CI 3.83 to 23.76). There were 4672 cancer diagnoses and 267 episodes of severe hypoglycaemia in the chart review cohort.ConclusionsThe cumulative incidence of severe hypoglycaemia 6 months after cancer diagnosis was 9.4%. Severe hypoglycaemia increased over time. Younger patients, those with acute lymphoblastic leukaemia and those with a history of disease relapse, were at higher risk of severe hypoglycaemia.