Implementation of IT supported standardization of individualized hydrocortisone management for treatment of patients with adrenal insufficiency.

OBJECTIVES: Hydrocortisone stress dosing guidelines for children with adrenal insufficiency (AI) recommend a wide range of acceptable stress doses. This has led to variability in dosing recommendations resulting in confusion among endocrine, non-endocrine providers and patient families. This quality improvement project sought to standardize documentation and hydrocortisone stress dosing within our pediatric endocrine division to optimize communication regarding AI management. METHODS: Plan-Do-Study-Act (PDSA) cycle one aimed to address documentation of components important in AI management including body surface area (BSA), home daily dose, home stress dose, in-patient stress dose, procedure dose and crisis dose using a smart phrase within the electronic health record (EHR). To automate the process, PDSA cycle two introduced two smart buttons within the endocrine notes. PDSA cycle three focused on standardizing hydrocortisone stress doses. RESULTS: Initial documentation targets were met for all AI management components except for the crisis dose. The second target was only met for the home stress dose. Implementing the smart buttons aided in reaching the second target for home daily and home stress doses. Dose standardization targets were achieved in all categories except for the on-going crisis dose. A follow up survey after an in-service for non-endocrine providers showed increased knowledge of locating hydrocortisone stress dosing recommendations within the EHR. CONCLUSIONS: With the assistance of technology, this quality improvement project ultimately enhanced communication through the standardization of documentation and individualized hydrocortisone stress dosing for children with AI. Although not all secondary targets were met, there was meaningful improvement in documentation and stress dose standardization compliance.

Electronic Dashboard to Improve Outcomes in Pediatric Patients With Type 1 Diabetes Mellitus.

BACKGROUND AND OBJECTIVES: Incidence of type 1 diabetes mellitus (T1DM) is increasing, and these patients often have poor glycemic control. Electronic dashboards summating patient data have been shown to improve patient outcomes in other conditions. In addition, educating patients on T1DM has shown to improve glycated hemoglobin (A1C) levels. We hypothesized that using data from the electronic dashboard to monitor defined diabetes management activities to implement population-based interventions would improve patient outcomes. METHODS: Inclusion criteria included patients aged 0 to 18 years at Phoenix Children's Hospital with T1DM. Patient data were collected via the electronic dashboard, and both diabetes management activities (A1C, patient admissions, and visits to the emergency department) and patient outcomes (patient education, appointment compliance, follow-up after hospital admission) were analyzed. RESULTS: This study revealed that following implementation of the electronic dashboard, the percentage of patients receiving appropriate education increased from 48% to 80% (Z-score = 23.55, P < .0001), the percentage of patients attending the appropriate number of appointments increased from 50% to 68.2%, and the percentage of patients receiving follow-up care within 40 days after a hospital admission increased from 43% to 70%. The median A1C level decreased from 9.1% to 8.2% (Z-score = -6.74, P < .0001), and patient admissions and visits to the emergency department decreased by 20%. CONCLUSIONS: This study shows, with the implementation of an electronic dashboard, we were able to improve outcomes for our pediatric patients with T1DM. This tool can be used at other institutions to improve care and outcomes for pediatric patients with T1DM and other chronic conditions.

Feasibility, Acceptability, and Preliminary Efficacy of an Intensive Clinic-Based Intervention for Children With Poorly Controlled Type 1 Diabetes.

OBJECTIVE: To evaluate the feasibility, acceptability, and preliminary efficacy of a team-based intervention for youth with type 1 diabetes (T1D) with suboptimal glycemia, as detected based on the measurement of hemoglobin A1C (HbA1C). METHODS: Forty participants with T1D for >1 year and an HbA1C level of ≥9.5% (80 mmol/mol) enrolled for a multidisciplinary intervention that included pediatric endocrinologists, pediatric psychologists, and a certified diabetes care and education specialist (CDCES). The CDCES-integrated medical management, while reinforcing physical, emotional, and behavioral health, connected with families to set and monitor goals and reviewed medication adjustments. The feasibility was assessed based on enrollment targets; acceptability based on retention rates; and preliminary efficacy based on changes in HbA1C levels, quality of life, diabetes-related strengths and resilience, hospital admissions, emergency room visits, and missed school days. RESULTS: Of 43 patients and families approached, 40 agreed to participate, 36 completed the 4-month intervention, and 31 completed full 8 months of follow-up data collection. The CDCES coach averaged 6.8 contacts per participant during the 8-month study period. The HbA1C level reduced significantly from baseline to 4 months (12.1% ± 1.6% to 11.0% ± 1.9%, P = .001) and was sustained at 8 months (10.7% ± 1.9%, P < .001). The participants reported significant increases in diabetes-specific quality of life (P < .05) and diabetes-related strength and resilience (P = .003). The missed school days reduced from 7.23 ± 7.5 days to 1.55 ± 1.9 days (P < .001), and the diabetes-related hospitalizations decreased from 0.4 ± 0.6 to 0.1 ± 0.3 (P = .009). CONCLUSION: Preliminary data suggest that a multidisciplinary intervention leveraging a team-based approach with a physician, psychologist, and CDCES can support improvements in glycemic control and psychosocial outcomes among youth with T1D with an HbA1C level above the target.

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation.

SUMMARY: Single-minded homolog 1 (SIM1) is a transcription factor that plays a role in the development of both the hypothalamus and pituitary. SIM1 gene mutations are known to cause obesity in humans, and chromosomal deletions encompassing SIM1 and other genes necessary for pituitary development can cause a Prader-Willi-like syndrome with obesity and hypopituitarism. There have been no reported cases of hypopituitarism linked to a single SIM1 mutation. A 21-month-old male presented to endocrinology clinic with excessive weight gain and severe obesity. History was also notable for excessive drinking and urination. Endocrine workup revealed central hypothyroidism, partial diabetes insipidus, and central adrenal insufficiency. Genetic evaluation revealed a novel mutation in the SIM1 gene. No other genetic abnormalities to account for his obesity and hypopituitarism were identified. While we cannot definitively state this mutation is pathogenic, it is notable that SIM1 plays a role in the development of all three of the patient's affected hormone axes. He is now 6 years old and remains on treatment for his pituitary hormone deficiencies and continues to exhibit excessive weight gain despite lifestyle interventions. LEARNING POINTS: Mutations in SIM1 are a well-recognized cause of monogenic human obesity, and there have been case reports of Prader-Willi-like syndrome and hypopituitarism in patients with chromosomal deletions that contain the SIM1 gene. SIM1 is expressed during the development of the hypothalamus, specifically in neuroendocrine lineages that give rise to the hormones oxytocin, arginine vasopressin, thyrotropin-releasing hormone, corticotropin-releasing hormone, and somatostatin. Pituitary testing should be considered in patients with severe obesity and a known genetic abnormality affecting the SIM1 gene, particularly in the pediatric population.

Epicardial adipose thickness in youth with type 1 diabetes.

BACKGROUND AND OBJECTIVE: Epicardial adipose thickness (EAT) is increased in adults with type 1 diabetes (T1D) and is thought to contribute to cardiovascular disease (CVD) in this population. Given that CVD risk factors emerge early in life, the purpose of this study was to identify whether EAT is increased in pediatric patients with T1D compared with non-diabetic controls. METHODS: Anthropometric data, blood pressure (BP), and EAT were evaluated in 20 youth with T1D and 20 age, sex, and body mass index (BMI) matched healthy controls between the ages of 5 and 18 years. RESULTS: EAT was 18.5% higher among youth with T1D compared to healthy controls (1.65 ± 0.44 mm vs 1.37 ± 0.27 mm, P = .02). In the entire cohort, EAT was correlated with age (r = 0.71, P < .001), BMI (r = .69, P < .001), waist circumference (r = 0.60, P < .001), systolic BP (r = .34, P = .03), and diastolic BP (r = 0.41, P = .009). Among youth with T1D, there were no significant correlations between EAT and HbA1c (r = -0.16, P = .50), insulin dose (r = .09, P = .71), or duration of disease (r = 0.06, P = .82). CONCLUSIONS: Youth with T1D exhibited significantly higher EAT compared to controls. Increased EAT was associated with adiposity and BP, but not duration of disease, insulin dose, or glycemic control. Increased EAT may represent a pathophysiologic mechanism leading to premature CVD in pediatric patients with T1D.

Growth Tracking in Severely Obese or Underweight Children.

OBJECTIVES: To illustrate the difficulties in optimal growth monitoring of children with severe obesity or underweight by using the Centers for Disease Control and Prevention (CDC) 2000 age- and sex-specific BMI percentile growth charts. We also aimed to examine the utility of a new modified CDC BMI z score chart to monitor growth in children with normal and extreme BMI percentiles by using real-life clinical scenarios. METHODS: Modified BMI z score charts were created by using the 2000 CDC algorithm. Three cases of children with extreme BMI values and abnormal growth patterns were plotted by using the standard CDC 2000 clinical growth chart, the modified BMI z score chart, and the CDC BMI percentile chart, modified to include the percentage of the 95th percentile (%BMIp95) curves. RESULTS: Children with severe obesity could not be plotted on the standard CDC BMI percentile chart because their BMI points lay above the chart cutoff. Children with a low BMI (<3%) were also difficult to track on the standard BMI percentile chart. The addition of the %BMIp95 scale to the standard BMI percentile chart allowed tracking of severely obese children; however, it did not address severely underweight children and required a change of units within the chart when transitioning from normal to obese BMIs. The modified BMI z score chart allowed uniform tracking. CONCLUSIONS: The modified CDC z score chart is suitable for growth tracking of children with normal and extreme growth patterns; the measures correlate well with the %BMIp95, and the chart can be incorporated easily into existing electronic health record systems for clinical use.

Darkened skin, vomiting, and salt cravings in a teenager · Dx?

Acute adrenal insufficiency crisis usually occurs after a prolonged period of nonspecific complaints due to a loss of both glucocorticoids and mineralocorticoids; by the time overt symptoms occur, 90% of the adrenal gland may be destroyed. Patients (such as ours) may present with symptoms such as abdominal pain, weakness, vomiting, fever, and decreased responsiveness.

Endocrine Effects of Inhaled Corticosteroids in Children.

Inhaled corticosteroids (ICSs) are widely used as first-line treatment for various chronic respiratory illnesses. Advances in devices and formulations have reduced their local adverse effects. However, as delivery of ICSs to the lungs improves, the systemic absorption increases, and an adverse effect profile similar to, although milder than, oral corticosteroids has emerged. The most serious potential adverse effect is adrenal insufficiency, which can be life threatening. Adrenal insufficiency occurs most in patients taking the highest doses of ICSs but is reported with moderate or even low doses as well. Our recommendations include greater vigilance in testing adrenal function than current standard practice. In patients with diabetes mellitus (types 1 and 2), an increase in glucose levels is likely, and diabetes medication adjustment may be needed when initiating or increasing ICSs. The risk of linear growth attenuation and adverse effects on bone mineral density is generally low but should be considered in the face of additional risk factors. On behalf of the Pediatric Endocrine Society Drugs and Therapeutics Committee, we present a review of the endocrine adverse effects of ICSs in children and offer recommendations relating to testing and referral. Limited data in particular realms diminish the strength of certain recommendations, and clinical judgment continues to be paramount.

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Proximal interstitial 6q deletion involving Single-minded 1 (SIM1) gene causes a syndromic form of obesity mimicking Prader-Willi syndrome. In addition to obesity, Prader-Willi syndrome includes several other endocrinopathies, such as hypothyroidism, growth hormone deficiency, and hypogonadotropic hypogonadism. The endocrine phenotype of interstitial 6q deletion remains largely unknown, although clinical similarities between Prader-Willi syndrome and interstitial 6q deletion suggest endocrine abnormalities also may contribute to the interstitial 6q deletion phenotype. This report describes the endocrine phenotype in a propositus with the Prader-Willi-like syndrome associated with an interstitial 6q deletion including the SIM1 gene. Detailed endocrine evaluation of the propositus during childhood and adolescence revealed hypopituitarism, though initial endocrine evaluations during infancy were unremarkable. Our patient raises the possibility that hypopituitarism may be part of the phenotype, especially short stature, caused by interstitial 6q deletion. SIM1 plays an important role in the development of neuroendocrine lineage cells, implicating SIM1 haploinsufficiency in the pathophysiology of hypopituitarism seen in our propositus. Early identification of endocrine abnormalities can improve clinical outcome by allowing timely introduction of hormone replacement therapy. Hence, we suggest that detailed endocrine evaluation and longitudinal endocrine follow up be performed in individuals with proximal interstitial 6q deletion involving SIM1.

Are the ADA hemoglobin A(1c) criteria relevant for the diagnosis of type 2 diabetes in youth?

Diagnostic criteria for diabetes in children have not been established with nearly the rigor as that employed in adults. Recently revised American Diabetes Association (ADA) criteria allowed utilization of hemoglobin A(1c) (HbA1c) ≥ 6.5 % for diagnosis of diabetes. A recent series of pediatric studies appear to show that HbA1c has lower sensitivity than Fasting plasma glucose (FPG) or oral glucose tolerance test (OGTT). However, FPG and OGTT have themselves never been validated in children. Studies to validate diagnostic thresholds in children appear unlikely to take place. Thus, accepting the major ADA diagnostic criteria appears to be the best course of action for the pediatric community. One area in which correlation studies between HbA1c and FPG or OGTT might shed light is in the definition of criteria for intervention in 'pre-diabetes,' as the Diabetes Prevention Program Trial did not use HbA1c. However, such treatment, and the exact diagnostic thresholds at which it should be initiated in children, remains unproven.

Hemoglobin A1c measurement for the diagnosis of Type 2 diabetes in children.

Laboratory measurements of hemoglobin A1c above 6.5% were approved as an additional diagnostic criteria for diabetes mellitus by the American Diabetes Association in 2010. Several recent pediatric studies have cast HbA1c measurement in children in an unfavorable light in the pediatric population, by comparing HbA1c measurements to results on oral glucose tolerance test (OGTT) or fasting plasma glucose (FPG). However, many of these studies do not recognize that diabetes diagnostic criteria are based upon long-term health outcomes. In this sense, OGTT and FPG have themselves never been validated in the pediatric population. Studies to validate diagnostic tests for diabetes in pediatric populations may take a substantial period of time, and may prove unfeasible. However, studies that tie diagnostic results as a child to diagnostic results as an adult may be more feasible and may provide the data needed to determine which pediatric diagnostic criteria to use. Thus, for the time being, except for cases of hemoglobinopathy, cystic fibrosis, and a few other exceptions, describing HbA1c as 'lacking in sensitivity or specificity' in the pediatric population because of lack of correlation with OGTT is not scientifically sound.

Parathyroid hormone reserve in 22q11.2 deletion syndrome.

OBJECTIVE: We hypothesized that most patients with 22q11.2 deletion and a history of hypocalcemia have inadequate parathyroid function, manifested by intact parathyroid hormone levels below normal. We aimed to evaluate intact parathyroid hormone levels both during normocalcemia and at hypocalcemia, in this population. STUDY DESIGN: Retrospective chart review of 103 patients with 22q11.2 deletion born since 1997 and cared for at the Children's Hospital of Philadelphia. Calcium and intact parathyroid hormone drawn simultaneously were recorded, along with clinical presentation at hypocalcemia. RESULTS: Forty-seven simultaneous Ca/intact parathyroid hormone values were available. Seventy-nine percent of calcium levels and 81% of parathyroid hormone levels were within normal range. There were 19 patients with a history of symptomatic hypocalcemia, for whom any available simultaneous Ca/parathyroid hormone levels, before, during, or after hypocalcemia were analyzed. In this subgroup, 59% of calcium and 76% of parathyroid hormone levels were normal. None had an intact parathyroid hormone of >39.2 pg/mL at hypocalcemia. Seventy-three percent of hypocalcemic events had a precipitating stressor. CONCLUSIONS: Hypoparathyroidism in 22q11.2 deletion is mild, manifesting as a phenomenon of decreased parathyroid hormone reserve. Subjects are normocalcemic most of the time, but are unable to mount elevated intact parathyroid hormone levels, and therefore unable to correct hypocalcemia, in response to stressors.