Change in Body Mass Index in Youth in the First 5 Years After Type 1 Diabetes Mellitus Diagnosis.

OBJECTIVE: Examine body mass index (BMI) trajectories in American youth with type 1 diabetes (T1D) over the first 5 years following diagnosis. METHODS: Retrospective record review of BMI trajectories in youth with T1D diagnosed in 2015 to 2016. RESULTS: Near the time of diabetes diagnosis, 35.5% of youth had BMIs in the overweight/obesity range. These rates increased over time (P < .001), with 52.8% having overweight/obesity 5 years after diagnosis. Average age when BMI rose from healthy to overweight/obese or overweight to obese (rise group) was at 12.7 years, occurring 2.5 years after diagnosis. There were no differences between hemoglobin A1c, use of continuous glucose monitors, or use of insulin pumps between the rise group and those with healthy BMI throughout the study period. CONCLUSIONS: Alarmingly high rates of overweight/obesity in youth were observed within 5 years following T1D diagnosis. Awareness and further research are necessary to address this independent risk factor for morbidities.

The Rising Incidence of Hyperinsulinemic Hypoglycemia: Connection With Maternal Health.

OBJECTIVE: Due to a perceived rise in hyperinsulinemic hypoglycemia (HH) cases over time, notably during the COVID-19 pandemic, institutional experiences between 2013 and 2021 were reviewed to evaluate trends, characteristics, and outcomes in children with HH. METHODS: Charts of all children diagnosed with HH during the study period and evaluated by Pediatric Endocrinology were reviewed. HH was defined per Pediatric Endocrine Society guidelines. Regression analysis compared rates of change in HH cases and maternal risk factors over time. RESULTS: The incidence of HH began to rise in April 2016 and became significant in March 2017 (P < .001), with a more rapid rate of rise during the first year of the COVID-19 pandemic (P < .001). Seventy-four children with HH were identified over 9 years; 43% (n = 32) were diagnosed in 2020-2021. Maternal hypertensive disorders demonstrated longitudinal association with hyperinsulinism cases (P < .001). CONCLUSION: While HH diagnoses were on the rise for much of the 9-year study period, nearly half of all infants were diagnosed during the COVID-19 pandemic in 2020 to 21. The trends in HH diagnoses correlated with maternal hypertensive disorders. More studies exploring the roles of maternal health, hypertension, and stress and development of HH in offspring are needed.

Self-reported insulin pump prescribing practices in pediatric type 1 diabetes.

INTRODUCTION: Disadvantaged and minority youth with type 1 diabetes are less likely to be on insulin pump therapy compared to the majority population. Little is known about how pediatric endocrinology providers determine eligibility for insulin pump. We aimed to identify provider factors influencing the decision to initiate insulin pump therapy. METHODS: We conducted a survey of Pediatric Endocrine Society members who prescribe insulin pump therapy to pediatric patients with type 1 diabetes. The survey collected information about prescriber characteristics, use and adherence to guidelines, eligibility criteria, and objective and subjective factors that influence insulin pump prescription. RESULTS: The survey was completed by 192 individuals who met eligibility criteria (14.1% response rate). The majority of respondents were attending providers, and were white, non-Hispanic females. A minority of providers (22%) reported following written insulin pump guidelines, and many (70%) reported using personal guidelines to guide patient selection. Most providers had no objective eligibility criteria, aside from standard glucose monitoring. Providers identified patient lifestyle and increased risk of hypoglycemia, as well as patient and family factors such as motivation, realistic expectations of insulin pump use, ability to demonstrate carbohydrate counting, patient request, and ability to communicate as important in the decision to initiate insulin pump. CONCLUSION: Pediatric endocrinology providers place significant importance on subjective factors and utilize few objective criteria in determining eligibility for insulin pump. In the setting of the known disparities in insulin pump use, providers should utilize objective, consistent criteria to determine which patients are safe to initiate insulin pump.

Nephrolithiasis: A complication of pediatric diabetic ketoacidosis.

OBJECTIVE: To determine the frequency of nephrolithiasis as a complication of diabetic ketoacidosis (DKA) in pediatrics. METHODS: We performed a retrospective chart review of patients with DKA admitted to a pediatric hospital between January 2009 and July 2016. We identified patients with nephrolithiasis during admission for DKA. RESULTS: We identified 395 episodes of DKA over 7.5 years. Nephrolithiasis developed as a complication of DKA in 3 of those admissions (0.8%). All three patients with nephrolithiasis were males with new onset type 1 diabetes, aged 11 to 16.5 years. They all developed symptoms of nephrolithiasis after transition to subcutaneous insulin. One patient had subsequent worsening acidosis that required an additional 24 hours of IV insulin administration. CONCLUSIONS: Nephrolithiasis is a rare complication of pediatric DKA, and should be considered in children with DKA who develop hematuria, flank pain, or suprapubic pain. Nephrolithiasis can increase insulin resistance due to increased pain and inflammation, so these patients should be monitored closely for recurrence of DKA. As patients with diabetes have increased risk of chronic kidney disease and nephrolithiasis can cause kidney injury, risk factors for nephrolithiasis should be identified and addressed to avoid subsequent kidney damage.

"Counselor in Your Pocket": Youth and Provider Perspectives on a Mobile Motivational Intervention for Marijuana Use.

Previous interventions for marijuana use have been administered out of the real-life contexts in which use occurs. In 2010, we interviewed youth aged 15-24 years who use marijuana frequently (n = 8) and providers who treat them (n = 6) on the acceptability and utility of a mobile intervention involving momentary self-monitoring of use-related contexts and responsive motivational messaging following clinic-based brief motivational enhancement therapy. Thematic analysis was used to examine youth and provider perspectives on the mobile intervention. Results suggest that mobile technology is a promising tool for brief interventions to reduce youth marijuana use and warrants further development.

The Evaluation and Management of Methimazole-Induced Agranulocytosis in the Pediatric Patient: A Case Report and Review of the Literature.

INTRODUCTION: Agranulocytosis is a rare, but serious complication of methimazole (MMI) use for Graves' disease (GD). Treatment requires discontinuation of MMI, and the use of propylthiouracil (PTU) is also contraindicated. Few reports exist about the optimal alternative treatment regimens for the management of thyrotoxicosis in these medically complex patients in the pediatric population. CASE REPORT: We report prolonged saturated solution of potassium Iodide (SSKI) use (29 days) in a 17-year-old female with GD and MMI-induced agranulocytosis, who presented with septic shock. Her treatment course also included beta-blockade, cholestyramine, and granulocyte colony stimulating factor. We performed a review of the literature on the use of SSKI in the management of thyrotoxicosis, as well as best practices from the view of endocrinology, infectious disease, hematology, surgery, and intensivists, for the evaluation and management of MMI-induced agranulocytosis. DISCUSSION: The management of MMI-induced agranulocytosis and associated sequelae require subspecialty input and intensive evaluation and monitoring. Alternative treatments to manage hyperthyroidism and control symptoms of thyrotoxicosis during agranulocytosis are a bridge to definitive therapy, and include beta-blockade, SSKI, cholestyramine, steroids, lithium, and plasmapheresis.

Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report.

OBJECTIVES: Hypercalcemia has been reported as an uncommon complication of the ketogenic diet (KD). Here we present a toddler whose hypercalcemia persisted for 2 months after stopping the KD. CASE PRESENTATION: A 2 year 11-month-old child with global developmental delay, infantile spasms, neuromuscular weakness with limited mobility, tracheostomy and ventilator dependence, and oropharyngeal dysphagia with G-tube dependence presented with hypercalcemia in the setting of recurrent vomiting. At presentation, the patient was adherent to a KD and taking topiramate since infancy for intractable seizures. His laboratory parameters at presentation showed hypercalcemia (11.9 mg/dL), hypercalciuria, acute renal failure, low alkaline phosphatase (76 IU/L [110-302 IU/L]), parathyroid hormone (PTH) <6 pg/mL (18-80 pg/mL), normal thyroid function, cortisol and vitamin D level. The patient's hypercalcemia persisted post-discontinuation of the KD and topiramate. PTH-related protein was mildly elevated at 15.3 pmol/L. Follow-up laboratory and imaging studies ruled out malignancy. He was managed with calcitonin 4 u/kg/dose Q12H × 1 day and 8 u/kg/dose Q8H × 1 day, hydration and low-calcium formula. Post-discontinuation of the KD, normalization of alkaline phosphatase levels preceded the normalization of calcium on day 55 and PTH on day 85. CONCLUSIONS: Hypercalcemia may persist for an extended period after weaning from a KD; lab parameters may mimic that of hypophosphatasia as previously described in the literature. Normalization of alkaline phosphatase, a marker of bone turnover, indicates recovery from the adynamic state induced by the KD and typically precedes the normalization of calcium and PTH.

Incidence, Severity, and Presentation of Type 2 Diabetes in Youth During the First and Second Year of the COVID-19 Pandemic.

OBJECTIVE: To describe the evolving impact of the coronavirus disease 2019 pandemic on the incidence and presentation of new-onset pediatric type 2 diabetes. RESEARCH DESIGN AND METHODS: Retrospective medical record review of youth with new-onset type 2 diabetes comparing the prepandemic period (1 January 2017-29 February 2020) with the first (1 March 2020-31 December 2020) and second pandemic year (1 January 2021-31 December 2021). RESULTS: The annualized incidence of type 2 diabetes increased nearly threefold during the pandemic versus prior, with a 61% increase in the 2nd versus 1st year. BMI increased during the pandemic versus prior (129% of 95th percentile vs. 141%, P = 0.02). In the 1st year, patients were younger (12.9 years vs. 14.8, P < 0.001), with higher incidence of diabetic ketoacidosis and/or hyperglycemic hyperosmolar syndrome (20% vs. 3.5%, P = 0.02) versus prior. CONCLUSIONS: Providers should be aware of the escalating incidence of youth-onset type 2 diabetes to avoid delays in diagnosis and inform educational programs to combat the continued impact of the pandemic on health outcomes.

Severe Vitamin D Deficiency in Youth with Autism Spectrum Disorder During the COVID-19 Pandemic.

BACKGROUND: Decrease in sunlight exposure during periods of social distancing during the COVID-19 pandemic increased the risk of severe manifestations of vitamin D deficiency (VDD) in a particular "high-risk" population. Our objective was to highlight the importance of vitamin D screening in youth with autism spectrum disorder (ASD) and restrictive eating. CASE PRESENTATION: We describe 3 adolescent male patients with ASD who developed severe manifestations of VDD and hypocalcemia in late 2020 during the COVID-19 pandemic. All spent less time outdoors than in prior years because of isolation at home during the pandemic. Presenting symptoms included seizures and atraumatic fractures. All 3 were found to have hypocalcemia and severe VDD. Limited sun exposure because of isolation indoors during the COVID-19 pandemic was a likely contributing factor to the severity of VDD. All 3 were treated with intravenous calcium acutely, followed by oral calcium and vitamin D. Laboratory tests performed post-treatment showed biochemical resolution of hypocalcemia and VDD. CONCLUSION: These cases highlight the importance of screening "at-risk" youth for VDD. Clinicians should be cognizant that children and adolescents with ASD and restricted eating can have severe manifestations of hypocalcemia and VDD. Decreased sun exposure because of isolating indoors during the COVID-19 pandemic increased their risk for this.

Severe Hypothyroidism and Large Goiter due to Iodine Deficiency in an Adolescent Male in the United States: A Case Report and Review of the Literature.

Acquired hypothyroidism due to iodine deficiency is extremely rare in the United States due to the introduction of table salt iodization in the 1920s (Leung et al., 2012). We present the case of an adolescent male with a history of mild autism spectrum disorder and an extremely restrictive diet who was found to have iodine deficiency as the etiology for his rapidly enlarging goiter and antibody-negative hypothyroidism. Thyroid-stimulating hormone (TSH) was 416 µIU/mL (0.350-5.500 µIU/mL), free thyroxine (T4) was <0.1 ng/dL (0.80-1.80 ng/dL), and triiodothyronine (T3) was 41 ng/dL (82-213 mg/dL) at diagnosis. The patient's 24-hour urinary iodine was undetectable. He was started on iodine supplementation with rapid visible improvement of goiter within two weeks and normalization of thyroid function tests within four weeks. Thorough dietary history and nutritional screening are important in cases of acquired hypothyroidism and/or goiter. Alternatively, diets that are low in iodized salt, dairy, bread, and seafood should raise concern for iodine deficiency, and patients with suspected or proven iodine deficiency should be screened for hypothyroidism.

Perceptions of simulation-based training in crisis resource management in the endoscopy unit.

Simulation-based training (SBT) teaches healthcare teams to manage critical events, using crisis resource management skills. The purpose of this study was to assess staff perceptions of using SBT in the endoscopy suite. Nurses and technicians were invited to participate in a training program that used simulation of endoscopy-based scenarios to teach crisis resource management skills. Participants completed surveys prior to, immediately following, and 1-month following SBT. Surveys assessed the usefulness, enjoyment, applicability, and realism of SBT using 5-point Likert scales. Eleven (92%) of the 12 nurses (10 = female, median age = 45 years) and four (80%) of five technicians (3 = female, 37 years of age) participated. Prior to participation, nurses with more than 5 years' experience rated their expected enjoyment of SBT to be lower than less-experienced peers (mean = 2.6 vs. 4.5, p =.005). When surveyed immediately after participation, both groups reported SBT to be highly useful (mean ± SD, 4.6 ± 0.9 vs. 5.0 ± 0), enjoyable (3.8 ± 0.8 vs. 4.6 ± 0.5), applicable (4.0 ± 0.8 vs. 4.7 ± 0.8), and realistic (4.0 ± 0.7 vs. 4.7 ± 0.8). One month after training, 14 of the 15 participants expressed interest in future programs, using simulation to practice crisis resource management skills. Findings suggest that SBT may serve as an enjoyable, applicable, and realistic tool to enhance a team's performance in the endoscopy suite across all caregivers and different levels of experience.

Bacteremia in a Newborn with Hypocalcemic Seizures and Vitamin D Deficiency.

Infants with neonatal hypocalcemia often present with seizures, and neonatal hypocalcemia can be due to parathyroid (PTH) insufficiency or resistance. Causes of hypocalcemia with PTH elevation include increased phosphate load, vitamin D deficiency (VDD) or defects in metabolism, renal dysfunction, hypomagnesemia, genetic mutations resulting in end-organ resistance to PTH, or critical illness. Hypocalcemia has also been shown to be associated with Gram-negative bacteremia and sepsis in adults. We present the case of a full-term, formula-fed newborn presenting with late-onset hypocalcemic seizures and VDD in the setting of Klebsiella pneumoniae bacteremia. This case highlights that newborns presenting with hypocalcemic seizures should undergo a workup for sepsis.

Fellow perceptions of training using computer-based endoscopy simulators.

BACKGROUND: Integrating procedural training by using computer-based endoscopic simulators (CBES) into gastroenterology fellowships may facilitate technical skill development, while posing no additional risk to patients. OBJECTIVE: The aim of our study was to survey pediatric gastroenterology fellows about their experiences with and perceptions of CBES as compared with actual procedures, prior to and after exposure to both types of endoscopic learning. DESIGN AND SETTING: All first-year trainees at Children's Hospital Boston (2003-2008) were invited to complete a written, pretraining questionnaire and then perform at least 10 each of CBES endoscopies and colonoscopies prior to performing actual procedures. Fellows completed a written, posttraining questionnaire after 4 months. MAIN OUTCOME MEASUREMENTS: Survey responses. RESULTS: All 25 first-year fellows (12 male, median age 30 years) over the 5-year period participated. Four months into their fellowships, fellows reported simulation to be helpful in increasing procedural skill and confidence. The number of sessions on the simulator was associated with reported increased colonoscopic skill and confidence (P = .032 and P = .007, respectively). All fellows reported it difficult to incorporate CBES into their work schedules. Only 28% of fellows reported performing 20 total CBES procedures, with most simulation sessions reportedly lasting less than 30 minutes. All participants rated faculty instruction with CBES as very helpful. LIMITATIONS: This was a single-site study of pediatric trainees and may be limited in generalizability. CONCLUSION: A few short sessions with CBES may be perceived as useful for endoscopic skill acquisition by pediatric gastroenterology trainees. Further exploration into how to assimilate CBES into busy gastroenterology training programs may be warranted.

NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.

OBJECTIVE: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 (XRCC4) is a causative gene for an autosomal recessive form of MPD. The objective of this report is to describe novel XRCC4 mutations in a female infant with MPD, dilated cardiomyopathy, and subclinical hypothyroidism. METHODS: Genetic testing was performed using a comprehensive next generation sequencing panel for MPD, followed by targeted XRCC4 gene sequencing. RESULTS: We report the case of a 970-gram, 35-cm, female infant (weight z score -5.05, length z score -4.71) born at 36 weeks and 3 days gestation. Physical examination revealed triangular facies, micrognathism, clinodactyly, and second and third toe syndactyly. Initial echocardiogram at birth was normal. Follow-up echocardiogram at 60 days of life revealed dilated cardiomyopathy with moderate left ventricular systolic dysfunction (ejection fraction was 40 to 45%), and anticongestive therapy was initiated. Thyroid testing revealed subclinical hypothyroidism with elevated thyroid-stimulating hormone of 13.0 µIU/mL (reference range is 0.3 to 5.0 µIU/mL) and normal free thyroxine by dialysis of 1.6 ng/dL (reference range is 0.8 to 2.0 ng/dL). Levothyroxine was initiated. Postnatal growth remained poor (weight z score at 3 months -4.93, length z score at 3 months -6.48), including progressive microcephaly (head circumference z score at 3 months -10.94). Genetic testing revealed novel compound heterozygous XRCC4 variants in trans: c.628A>T and c.638+3A>G. The child ultimately had cardiopulmonary arrest and died at 6 months of life. CONCLUSION: Molecular diagnosis in MPD is key to defining the natural history, management, and prognosis for patients with these rare disorders.

Nurse reports of adverse events during sedation procedures at a pediatric hospital.

The purpose of our study was to examine the reliability of nurse reports of adverse events related to procedural sedation in children. A descriptive, correlational design was used to analyze for inter-rater agreement between prospective adverse event reporting and that identified on independent review of the medical record. All sedation documentation at a pediatric hospital over one calendar year was reviewed, and inter-rater reliability of reporting was analyzed using K statistics. Five thousand forty-five sedation documentation records were reviewed. An adverse event rate of 6.52% was identified: 1.92% of adverse events were serious, and 4.60% were minor. Although overall agreement between nurse reports and independent review was greater than 99%, subanalysis suggested greater agreement for serious events than for minor ones (K values: 0.85 vs 0.49, P < .01). The results of our study revealed that minor adverse events associated with procedural sedation were under-reported, despite clear perianesthesia documentation in the medical record that an event had occurred. Improved education for perianesthesia nurses regarding the importance of monitoring both for serious and minor adverse events will help to identify opportunities to improve sedation protocols.

EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION.

OBJECTIVE: Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs). METHODS: We report the case of a 46,XY infant with phenotypically female external genitalia, müllerian structures including uterus and fallopian tubes, and bilateral streak gonads who was found to have unilateral gonadoblastoma at 13 months. 46,XY DSD was suggested prenatally when discordance between NIPT and fetal ultrasound was noted. RESULTS: Genetic investigation revealed a deletion of 12.5 million base pairs at chromosome 9p24.3, which includes the doublesex and MAB-3-related transcription factor-1 (DMRT1) gene. CONCLUSION: Current guidelines recommend gonadectomy at the time of diagnosis in cases of 46,XY CGD, and our patient had gonadoblastoma at 13 months. 46,XY DSD, including rare disorders such as CGD, will be increasingly identified before birth with more widespread use of NIPT, raising the question about the appropriate timing of gonadectomy in prenatal diagnoses. Our case supports the current recommendation to perform gonadectomy as early as possible after diagnosis.

Endoscopic sedation in pediatric practice.

Best sedation practices for pediatric endoscopy involve the consideration of many patient factors, including age, medical history, clinical status, and anxiety level, as well as physician access to anesthesia support. A recent survey of pediatric gastroenterologists suggests that endoscopist-administered intravenous (iv) sedation and anesthesiologist-administered propofol represent common sedation regimens in children. Technical advances in ventilatory monitoring are contributing to increased patient safety for all children undergoing gastrointestinal procedures, regardless of sedation type.

Graves' Thyrotoxicosis Leading to Adrenal Decompensation and Hyperandrogenemia in a Pediatric Patient with Salt-Wasting Congenital Adrenal Hyperplasia.

INTRODUCTION: Thyroid hormone is known to accelerate glucocorticoid turnover. In a thyrotoxic state, individuals with adrenal insufficiency are unable to increase endogenous cortisol production to compensate for increased turnover, placing them at risk for symptoms of glucocorticoid deficiency and adrenal crisis. In patients with salt-wasting congenital adrenal hyperplasia (SW-CAH), hyperandrogenemia is a measurable reflection of relative glucocorticoid insufficiency. CASE PRESENTATION: A 12-year-old girl with SW-CAH reported 3 recent episodes of vomiting without diarrhea, and accompanying tachycardia, responsive to stress dose steroids. In the previous 9 months, she unintentionally lost 2.6 kg. She had tachycardia and new thyromegaly. Labs showed suppressed TSH, elevated free T4 and total T3, and elevated thyroid stimulating immunoglobulin (TSI) consistent with Graves' disease. Adrenal androgens were markedly elevated. Maintenance hydrocortisone dose was 25 mg/m2/day and was not changed. Methimazole was initiated. Four weeks later, free T4 and adrenal androgens normalized. She had no further vomiting episodes. CONCLUSIONS: Thyrotoxicosis must be included in the differential diagnosis of individuals with SW-CAH who present with episodes concerning for adrenal crises, escalating hydrocortisone requirements, and/or inadequate suppression of adrenal hormones.

A Pilot Study of Ketamine versus Midazolam/Fentanyl Sedation in Children Undergoing GI Endoscopy.

Background. Ketamine sedation has been found superior by physician report to traditional sedation regimens for pediatric endoscopy. Goal. To objectively compare sedation with ketamine versus midazolam/fentanyl for children undergoing gastrointestinal endoscopy. Study. Patients received one of two regimens and were independently monitored using a standardized rating scale. Results. There were 2 episodes of laryngospasm during ketamine sedation. Univariate analyses showed patients sedated with ketamine (n = 17) moved more (median 25% of procedure time versus 8%, P = .03) and required similar low levels of restraint (0.83% versus 0.25%, P = .4) as patients sedated with midazolam/fentanyl (n = 20). Age-adjusted analyses suggested that patients sedated with ketamine were comparably more quiet (P = .002). Conclusions. A pilot trial of ketamine at our institution was associated with episodes of laryngospasm. In addition, children sedated with ketamine moved and required restraint similarly to patients sedated with midazolam/fentanyl. Physician perceptions may be affected by the fact that children who received ketamine were less likely to vocalize distress.