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Adolescents with type 1 diabetes (T1D) frequently experience psychosocial concerns, and mental health screening is becoming increasingly common in routine diabetes care. However, little is known about what adolescents or their caregivers think about the role of mental health screening and intervention within the context of comprehensive diabetes care, or how their diabetes care providers should be involved in navigating mental health concerns. This study used qualitative methods to obtain the perspectives of adolescents with T1D and their caregivers regarding these issues.Participants were 13 adolescents with T1D (ages 12-19 years; M = 15.1 years; 53.8% female; 61.5% Hispanic/Latinx White) and 13 mothers, recruited from an outpatient pediatric endocrinology clinic in South Florida, who participated in semi-structured interviews via video teleconference. Thematic content analysis was used to evaluate participants' responses.Adolescents and their mothers reported positive experiences with the clinic's psychosocial screening procedures and appreciated meeting with the psychology team during visits. They wanted the clinic to offer more opportunities for peer support. Mothers highlighted barriers to seeking mental health care outside of the clinic and the importance of mental health professionals understanding diabetes. Mothers also wanted the clinic to offer more on-site therapeutic services.Study participants valued psychosocial screening and supported addressing mental health as a routine part of diabetes comprehensive care.

COVID-19 necessitated a rapid shift to telehealth for psychologists offering consultation-liaison services in pediatric medical settings. However, little is known about how psychologists providing these services adapted to using telehealth service delivery formats. This report details how our interdisciplinary team identified declining psychosocial screener completion and psychology consultation rates as primary challenges following a shift to telehealth within a pediatric diabetes clinic. We utilized the Plan-Do-Study-Act (PDSA) quality improvement framework to improve screening and consultation rates, which initially declined during the telehealth transition. Screening and consultation rates dropped initially, but recovered to nearly pre-pandemic levels following three PDSA intervention cycles. During implementation, challenges arose related to the feasibility of patient interactions, interdisciplinary collaboration, patient engagement, and ethical issues. Clinics shifting psychology consultation-liaison services to telehealth should prioritize interdisciplinary communication, elicit perspectives from all clinic professionals, leverage the electronic health record, and develop procedures for warm handoffs and navigating ethical issues.

Background: The primary objective of this U.S. based multi-center study was to examine the association of overweight and obesity with A1c levels for children and adolescents with type 1 diabetes (T1D) . Methods: Electronic health record data spanning 2017-2021 for children and adolescents from the T1D Exchange Quality Improvement (T1DX-QI) Collaborative was analyzed. BMI percentiles were calculated using the Centers for Disease Control and Prevention growth curves, and children were categorized into normal weight, overweight, obese and severely obese groups. Normal weight was defined as a BMI < 85th percentile for age and sex. Overweight was defined as a BMI ≥ 85th to < 95th percentile. Obesity was defined as having a BMI Results: Of 14,484 T1D patients aged < 18 years, 2,063 (14%) were underweight, 9,320 (65%) normal weight, 1,769 (12%) overweight, 977 (7%) obese and 333 were severely obese (2%) . More people of Black (12%) and Hispanic (18%) race/ethnicity were in the obese group relative to the normal weight group (8% and 10% respectively; p Conclusion: In this extensive real-world study, we found obese children and adolescents with T1D were more likely of Black or Hispanic race/ethnicity and have higher HbA1c levels compared to those with healthy weight. Disclosure A.B.Mekhoubad: None. B.Miyazaki: None. J.M.Lee: Advisory Panel; GoodRx, Consultant; Tandem Diabetes Care, Inc. S.Hsieh: None. N.Noor: None. O.Ebekozien: None. S.Rompicherla: None. E.L.Ospelt: None. A.J.Roberts: None. J.Sanchez: None. D.Ferro: None. Funding The Leona M. and Harry B. Helmsley Charitable Trust

Background Diabetes is a risk factor for poor COVID‐19 outcomes, but pediatric patients with type 1 diabetes are poorly represented in current studies. Methods T1D Exchange coordinated a US type 1 diabetes COVID‐19 registry. Forty‐six diabetes centers submitted pediatric cases for patients with laboratory confirmed COVID‐19. Associations between clinical factors and hospitalization were tested with Fisher's Exact Test. Logistic regression was used to calculate odds ratios for hospitalization. Results Data from 266 patients with previously established type 1 diabetes aged, Highlights Outcomes for children with type 1 diabetes who experience COVID‐19 are currently unknown. We report 266 cases from US diabetes clinics of children with type 1 diabetes who had COVID‐19. Diabetic ketoacidosis was the major adverse outcome, and it was associated with higher A1c.

The ISPAD recommends routine, comprehensive psychosocial screening for adolescents with diabetes. However, few clinics have implemented procedures consistent with these guidelines. This study describes the results of a universal, comprehensive psychosocial screening program in an integrated pediatric diabetes clinic located within an academic medical center. Subjects: Participants included 232 ethnically diverse adolescents with type 1 diabetes (55.5% female; M age = 14.85; 58.5% Hispanic; 20% Black). Adolescents completed screening measures on iPads in the waiting room before their medical visit. The proportion of adolescents screening positive on each psychosocial measure was assessed, and regression analyses evaluated how psychosocial variables accounted for variance in insulin non-adherence and glycemic control (measured by A1c). Psychosocial concerns were common and ranged from 7% of adolescents screening positive for disordered eating and suicide risk to 52% screening positive for low motivation to manage diabetes. A1c and insulin non-adherence were positively correlated with suicide risk, depressive symptoms, anxiety, disordered eating, diabetes stress, blood glucose monitoring stress, family conflict, and total number of elevations, and negatively correlated with intrinsic motivation. Insulin non-adherence, disordered eating, diabetes stress, and family conflict uniquely predicted A1c. Age, motivation, and family conflict uniquely predicted insulin non-adherence. Eighty-three percent of eligible youth completed the screener. Referrals by physicians to the team psychologist increased by 25% after the screening program was implemented. Comprehensive psychosocial screening can be effectively implemented as part of routine pediatric diabetes care and can identify adolescents in need of additional supports. This article is protected by copyright. All rights reserved.

OBJECTIVE ABCC8 mutations cause neonatal diabetes mellitus that can be transient (TNDM) or, less commonly, permanent (PNDM); ∼90% of individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with ABCC8-PNDM require lower sulfonylurea doses and have milder neurological features than those with KCNJ11-PNDM. However, these studies were short-term and included combinations of ABCC8-PNDM and ABCC8-TNDM. We aimed to assess the long-term glycemic and neurological outcomes in sulfonylurea-treated ABCC8-PNDM. RESEARCH DESIGN AND METHODS We studied all 24 individuals with ABCC8-PNDM diagnosed in the U.K., Italy, France, and U.S. known to transfer from insulin to sulfonylureas before May 2010. Data on glycemic control, sulfonylurea dose, adverse effects including hypoglycemia, and neurological features were analyzed using nonparametric statistical methods. RESULTS Long-term data were obtained for 21 of 24 individuals (median follow-up 10.0 [range 4.1–13.2] years). Eighteen of 21 remained on sulfonylureas without insulin at the most recent follow-up. Glycemic control improved on sulfonylureas (presulfonylurea vs. 1-year posttransfer HbA1c 7.2% vs. 5.7%, P = 0.0004) and remained excellent long-term (1-year vs. 10-year HbA1c 5.7% vs. 6.5%, P = 0.04), n = 16. Relatively high doses were used (1-year vs. 10-year dose 0.37 vs. 0.25 mg/kg/day glyburide, P = 0.50) without any severe hypoglycemia. Neurological features were reported in 13 of 21 individuals; these improved following sulfonylurea transfer in 7 of 13. The most common features were learning difficulties (52%), developmental delay (48%), and attention deficit hyperactivity disorder (38%). CONCLUSIONS Sulfonylurea treatment of ABCC8-PNDM results in excellent long-term glycemic control. Overt neurological features frequently occur and may improve with sulfonylureas, supporting early, rapid genetic testing to guide appropriate treatment and neurodevelopmental assessment.

We examined diabetes status (no diabetes; type 1 diabetes [T1D]; type 2 diabetes [T2D]) and other demographic and clinical factors as correlates of coronavirus disease 2019 (COVID-19)-related hospitalization. Further, we evaluated predictors of COVID-19-related hospitalization in T1D and T2D.We analyzed electronic health record data from the de-identified COVID-19 database (December 2019 through mid-September 2020; 87 US health systems). Logistic mixed models were used to examine predictors of hospitalization at index encounters associated with confirmed SARS-CoV-2 infection.In 116,370 adults (=18 years old) with COVID-19 (93,098 no diabetes; 802 T1D; 22,470 T2D), factors that independently increased risk for hospitalization included diabetes, male sex, public health insurance, decreased body mass index (BMI;25.0-29.9 kg/mThe higher hospitalization risk in T1D versus T2D warrants further investigation. Modifiable risk factors such as vitamin D deficiency/insufficiency, BMI, and elevated HbA1c may serve as prognostic indicators for COVID-19-related hospitalization in adults with diabetes.

Background: The benefits of Continuous Glucose Monitoring (CGM) on glycemic management have been demonstrated in numerous studies; however, widespread uptake remians limited. The aim of this study was to provide real-world evidence of patient attributes and clinical outcomes associated with CGM use across clinics in the U.S. based T1D Exchange Quality Improvement (T1DX-QI) Collaborative. Method: We examined electronic Health Record data from eight endocrinology clinics participating in the T1DX-QI Collaborative during the years 2017-2019. Results: Among 11,469 type 1 diabetes patients, 48% were CGM users. CGM use varied by race/ethnicity with Non-Hispanic Whites having higher rates of CGM use (50%) compared to Non-Hispanic Blacks (18%) or Hispanics (38%). Patients with private insurance were more likely to use CGM (57.2%) than those with public insurance (33.3%) including Medicaid or Medicare. CGM users had lower median HbA1c (7.7%) compared to nonusers (8.4%). Rates of diabetic ketoacidosis (DKA) and severe hypoglycemia were significantly higher in nonusers compared to CGM users. Conclusion: In this real-world study of patients in the T1DX-QI Collaborative, CGM users had better glycemic control and lower rates of DKA and severe hypoglycemia (SH) events, compared to nonusers; however, there were significant sociodemographic disparities in CGM use. Quality improvement and advocacy measures to promote widespread and equitable CGM uptake have the potential to improve clinical outcomes.

Background: Management of type 1 diabetes (T1D) involves achieving glycemic targets to avoid complications. However, despite advancements in diabetes technology and standards, achieving adequate glycemic control in children and adolescents remains a challenge. This study aims to identify factors associated with optimal glycemic targets of Methods: The analysis included 9,991 T1D patients (1-18 years) from eight sites in the T1D Exchange Quality Improvement (T1DX-QI) database for whom electronic health record data was available with at least one completed clinic encounter between July 2017-July 2020. Results: Among those with hemoglobin A1c 7% [p Conclusions: This study highlights real-world challenges and social disparities in achieving optimal glycemic control. A combination of CGM and insulin pump device use is beneficial for the effective management of blood glucose levels. T1Dx-QI sites are implementing best practices to improve optimal outcomes. Disclosure O. Ebekozien: None. E. L. Ospelt: None. M. K. Kamboj: None. T1dx-qi collaborative: n/a. N. Noor: Research Support; Self; Dexcom, Inc. B. Seyoum: None. S. Majidi: Advisory Panel; Self; Companion Medical. N. Jones: Consultant; Self; Companion Medical, Medtronic. R. Mcdonough: None. J. Sanchez: None. A. Kim: None. R. Izquierdo: None. Funding The Leona M. and Harry B. Helmsley Charitable Trust

Little is known about the association between novel coronavirus disease 2019 (COVID-19) and type-1 diabetes in children. A 16-year-old female patient with history of type-1 diabetes was admitted for life threatening diabetic ketoacidosis (DKA). She recovered from the DKA after 24 hours of insulin infusion and rehydration. On day 2, she was diagnosed with COVID-19. The DKA relapsed and required restarting insulin. She developed leukopenia, neutropenia, and high ferritin. Upon recovery, she was discharged for self-quarantine. Severity of DKA in children with COVID-19 is multifactorial. Clinical suspicion of COVID should be heightened in patients who present with unexplainedly severe DKA.

This study investigated the role of objectively measured moderate-vigorous physical activity (MVPA) and sedentary behavior on cardiometabolic risk factors of young Latino children. We hypothesized that MVPA would be associated with lower cardiometabolic risk when sedentary behavior is low. We studied 86 primarily low-income, Latino children using a cross-sectional study design. The study sample consisted of 51 girls and 35 boys, with mean age 5.6 (SD = .53) years. Physical activity was measured by accelerometry, anthropometric measures obtained, and fasting blood samples were used to measure cardiometabolic risk factors. Greater levels of sedentary behavior were associated with increased waist circumference (rs = .24, p.05) and metabolic risks. MVPA, however, had significant beneficial associations with all cardiometabolic risk factors (rs-range = -.20 to -.45, p.05) with the exception of plasma insulin. MVPA predicted latent variables representing anthropometric risk (β = -.57, p.01), cardiac risk (β = -.74, p.01), and metabolic risk (β = -.88, p.01). Sedentary behavior significantly moderated the effect of MVPA on anthropometric (β-interaction = .49, p.01), cardiac (β-interaction = .45, p.01), and metabolic risk (β-interaction = .77, p.01), such that more MVPA was associated with better health outcomes under conditions of lower sedentary behavior. The model explained 13%, 22%, and 45% variance in anthropometric, cardiac, and metabolic risk factors, respectively. Increased MVPA is associated with decreased cardiometabolic risk in young Latino children, particularly when sedentary behavior is low.This study investigated the role of objectively measured moderate–vigorous physical activity (MVPA) and sedentary behavior on cardiometabolic risk factors of young Latino children. We hypothesized that MVPA would be associated with lower cardiometabolic risk when sedentary behavior is low. The study sample consisted of 51 girls and 35 boys, with mean age 5.6 (SD = .53) years. Participants were primarily low-income, Latino children. We found that greater levels of sedentary behavior were associated with increased waist circumference and metabolic risks. MVPA, however, had significant beneficial associations with all cardiometabolic risk factors with the exception of insulin. MVPA predicted latent variables representing anthropometric risk, cardiac risk, and metabolic risk. Sedentary behavior significantly moderated the effect of MVPA on anthropometric, cardiac, and metabolic risk, such that more MVPA was associated with better health outcomes under conditions of lower sedentary behavior. We conclude that an increased MVPA is associated with decreased cardiometabolic risk in young Latino children, particularly when sedentary behavior is low.

Objective ABCC8 mutations cause neonatal diabetes that can be transient (TNDM) or less commonly permanent (PNDM); ~90% individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with ABCC8-PNDM require lower sulfonylurea doses and have milder neurological features than those with KCNJ11-PNDM. However, these studies were short-term and included combinations of permanent and transient forms of ABCC8-NDM. We aimed to assess the long-term glycemic and neurological outcomes in sulfonylurea-treated ABCC8-PNDM. Research Design and Methods We studied all 24 individuals with ABCC8-PNDM diagnosed in the UK, Italy, France or USA known to transfer from insulin to sulfonylureas before May 2010. Data on glycemic control, sulfonylurea dose, adverse effects including hypoglycemia, and neurological features were analysed using non-parametric statistical methods. Results Long-term data were obtained for 21/24 individuals (median follow-up 10.0 (4.1-13.2) years). 18/21 remained on sulfonylureas without insulin at most recent follow-up. Glycemic control improved on sulfonylureas (pre-sulfonylurea vs 1-year post-transfer HbA1c 7.2% vs 5.7%, p=0.0004) and remained excellent long-term (1-year vs. 10-year HbA1c 5.7% vs. 6.5%, p=0.04), n=16. Relatively high doses were used (1-year vs 10-year dose 0.37 vs 0.25mg/kg/day glyburide, p=0.50), without any severe hypoglycemia. Neurological features were reported in 13/21 individuals: these improved following sulfonylurea transfer in 7/13. The commonest features were learning difficulties (52%), developmental delay (48%), and ADHD (38%). Conclusions Sulfonylurea treatment of ABCC8-PNDM results in excellent long-term glycemic control. Overt neurological features frequently occur and may improve with sulfonylureas, supporting early, rapid genetic testing to guide appropriate treatment and neurodevelopmental assessment.

Objective We examined whether diabetic ketoacidosis (DKA), a serious complication of type 1 diabetes (T1D) was more prevalent among Non-Hispanic (NH) Black and Hispanic patients with T1D and laboratory-confirmed coronavirus disease 2019 (COVID-19) compared with NH Whites. Method This is a cross-sectional study of patients with T1D and laboratory-confirmed COVID-19 from 52 clinical sites in the United States, data were collected from April to August 2020. We examined the distribution of patient factors and DKA events across NH White, NH Black, and Hispanic race/ethnicity groups. Multivariable logistic regression analysis was performed to examine the odds of DKA among NH Black and Hispanic patients with T1D as compared with NH White patients, adjusting for potential confounders, such as age, sex, insurance, and last glycated hemoglobin A1c (HbA1c) level. Results We included 180 patients with T1D and laboratory-confirmed COVID-19 in the analysis. Forty-four percent (n = 79) were NH White, 31% (n = 55) NH Black, 26% (n = 46) Hispanic. NH Blacks and Hispanics had higher median HbA1c than Whites (%-points [IQR]: 11.7 [4.7], P Conclusion We found that among T1D patients with COVID-19 infection, NH Black patients were more likely to present in DKA compared with NH White patients. Our findings demonstrate additional risk among NH Black patients with T1D and COVID-19.

Objective: To report 2 patients with haploinsufficiency of hepatic nuclear factor 1 homeobox B (HNF1B) that results in the onset of maturity onset diabetes of the young type 5 (MODY5) before 3 years of age. Methods: We present 2 unusual patients with MODY5 that was diagnosed at 33 and 22 months of age, respectively. We describe the presentations, clinical course, and genetic tests of both patients, and lastly, we review the literature on the prevalence and the age of presentation of MODY5 both in children and in adult patients. Results: The first patient had severe congenital renal dysplasia, and deoxyribonucleic acid microarray indicated the deletion of 17q12. Hemoglobin A1c (HbA1c) was obtained due to the concern of MODY5, and the initial level (6.6%, 49 mmol/mol) was abnormally elevated. The second patient had mild renal dysplasia and 17q12 deletion encompassing the HNF1B gene. Hyperglycemia was identified during an episode of respiratory illness. HbA1c (6.2%, 44 mmol/mol) level was abnormally elevated. Pancreatic autoantibodies were absent in both patients. Diet modification resulted in an improvement of HbA1c in both patients. Conclusion: Our report highlights the importance of considering MODY5 in patients with congenital anomalies of kidney. Identification of children with MODY5 permits early management of hyperglycemia. Abbreviations: HNF1B hepatic nuclear factor 1 homeobox B MODY5 Maturity onset diabetes of the young type 5

OBJECTIVE: ABCC8 mutations cause neonatal diabetes that can be transient (TNDM) or less commonly permanent (PNDM); ~90% individuals can be treated with oral sulfonylureas instead of insulin. Previous studies suggested that people with ABCC8-PNDM require lower sulfonylurea doses and have milder neurological features than those with KCNJ11-PNDM. However, these studies were short-term and included combinations of permanent and transient forms of ABCC8-NDM. We aimed to assess the long-term glycemic and neurological outcomes in sulfonylurea-treated ABCC8-PNDM. RESEARCH DESIGN AND METHODS: We studied all 24 individuals with ABCC8-PNDM diagnosed in the UK, Italy, France or USA known to transfer from insulin to sulfonylureas before May 2010. Data on glycemic control, sulfonylurea dose, adverse effects including hypoglycemia, and neurological features were analysed using non-parametric statistical methods. RESULTS: Long-term data were obtained for 21/24 individuals (median follow-up 10.0 (4.1-13.2) years). 18/21 remained on sulfonylureas without insulin at most recent follow-up. Glycemic control improved on sulfonylureas (pre-sulfonylurea vs 1-year post-transfer HbA1c 7.2% vs 5.7%, p=0.0004) and remained excellent long-term (1-year vs. 10-year HbA1c 5.7% vs. 6.5%, p=0.04), n=16. Relatively high doses were used (1-year vs 10-year dose 0.37 vs 0.25mg/kg/day glyburide, p=0.50), without any severe hypoglycemia. Neurological features were reported in 13/21 individuals: these improved following sulfonylurea transfer in 7/13. The commonest features were learning difficulties (52%), developmental delay (48%), and ADHD (38%). CONCLUSIONS: Sulfonylurea treatment of ABCC8-PNDM results in excellent long-term glycemic control. Overt neurological features frequently occur and may improve with sulfonylureas, supporting early, rapid genetic testing to guide appropriate treatment and neurodevelopmental assessment.

Increasing intrinsic motivation (IM) may be an effective way to improve regimen adherence and glycemic control in youth with type 1 diabetes (T1D). This preliminary study evaluated the reliability and validity of a new measure of intrinsic motivation for diabetes management for ethnic minority youth with T1D. The 12-item Intrinsic Motivation Inventory for Diabetes Management (IMI-DM) was developed to assess perceptions of confidence in and the importance of engaging in self-care behaviors for diabetes management. Participants included 51 11–16 year-old minority adolescents (M age = 13.5 years) with T1D and their parents. The IMI-DM demonstrated excellent internal consistency (α=.92). Higher IM was associated with better diabetes self-management behaviors and glycemic control, better youth self-concept, less depression and family conflict, and greater youth responsibilities for diabetes management. These findings provide preliminary support for the reliability and validity of a new diabetes-specific IM measure for youth with T1D, and identified some key individual and family factors that may be important to consider in interventions to improve regimen adherence and glycemic control in minority youth with T1D.

Type 1 diabetes (T1D) is a chronic autoimmune disease leading to immune-mediated destruction of pancreatic beta cells, resulting in the need for insulin therapy. The incidence of T1D is increasing worldwide, thus prompting researchers to investigate novel immunomodulatory strategies to halt autoimmunity and modify disease progression. T1D is considered as a multifactorial disease, in which genetic predisposition and environmental factors interact to promote the triggering of autoimmune responses against beta cells. Over the last decades, it has become clear that vitamin D exerts anti-inflammatory and immunomodulatory effects, apart from its well-established role in the regulation of calcium homeostasis and bone metabolism. Importantly, the global incidence of vitamin D deficiency is also dramatically increasing and epidemiologic evidence suggests an involvement of vitamin D deficiency in T1D pathogenesis. Polymorphisms in genes critical for vitamin D metabolism have also been shown to modulate the risk of T1D. Moreover, several studies have investigated the role of vitamin D (in different doses and formulations) as a potential adjuvant immunomodulatory therapy in patients with new-onset and established T1D. This review aims to present the current knowledge on the immunomodulatory effects of vitamin D and summarize the clinical interventional studies investigating its use for prevention or treatment of T1D.

The 1.4 MB deletion in the 17q12 region causes a contiguous gene syndrome, which was recently named 17q12 Deletion Syndrome. This region encompasses the Hepatocyte Nuclear Factor 1ß gene (HNF1ß), which plays an important role in the formation of kidneys, pancreas, liver, brain and genital tract. The deletion of HNF1ß causes variable manifestations including dysplastic or cystic renal disease, MODY 5, pancreatic and urogenital malformations, hepatopathy, and neurological disorders. MODY 5 has been described in about 80% of the patients with this deletion, but less than 5% of patients are diagnosed before 10 years of age. We herein present two patients with MODY 5 due to the deletion of 17q12 whose hyperglycemia developed within 3 years of age. The first patient was diagnosed with multi-cystic dysplastic kidneys and urogenital malformations soon after birth. Microarray, obtained as part of the investigations to determine a genetic cause, revealed a heterozygous microdeletion of 17q12 region which includes HNF1ß gene region. At three years of age, his random glucose was abnormal (204 mg/dl) and HgbA1C was then obtained. The result indicated abnormal HgbA1C level of 6.6%. Pancreatic autoantibodies, GAD65, IA-2 and Insulin autoantibodies, were negative. His fasting C-peptide was also normal (2.37 ng/ml), and diagnosis of MODY 5 was than given. He currently has chronic kidney disease stage 5. However, his HgbA1C normalized (5.5%) with diet management alone. The second patient presented at 18 months of age with hyperglycemia, which was discovered during his acute respiratory illness. HgbA1C was elevated (6.2%), and the subsequent repeat tests showed similar results. He has also a global developmental delay, and was evaluated by a neurologist who requested a microarray to determine a genetic cause of his developmental delay. The result showed a heterozygous microdeletion in the similar region encompassing HNF1ß gene. Pancreatic autoantibodies were negative.Renal ultrasound was obtained to determine the presence of renal malformations, and the result indicated bilateral dysplastic kidneys. However, his renal function remains normal to date. Even though his HgbA1C was still below the diabetic cutoff point, the combinations of hyperglycemia, dysplastic kidneys and developmental delay were consistent with 17q12 Deletion Syndrome. His HgbA1C also normalized with diet management. Our report, to the best of our knowledge, presents the earliest manifestation of abnormal glucose homeostasis in patients with HNF1ß gene deletion. We, henceforth, suggest that the screening of hyperglycemia be done in pediatric patients with cystic dysplastic kidneys to aid the timely diagnosis of MODY5.

Self-efficacy is an important construct in diabetes management, especially for parents of young children. The Parental Self-Efficacy Scale for Diabetes Management (PSESDM) was adapted from the Perceived Diabetes Self-Management Scale (PDSMS) to measure parental self-efficacy for diabetes management of young children. The PSESDM was administered to 49 primary caregivers of youth between 2–9 years of age with type 1 diabetes (T1D). Cronbach’s alpha for the 8-item measure demonstrated adequate internal consistency (α = 0.84). Criterion-related validity was established. Higher scores on the PSESDM were associated with better glycemic control and quality of life in children. These preliminary findings provide support for the reliability and validity of the PSESDM, which may be a useful screening measure of diabetes-related parental self-efficacy for young children.

This study assessed whether clinic attendance was related to health outcomes for youth with type 2 diabetes mellitus (type 2 DM). Medical records of pediatric patients with type 2 DM were retrospectively reviewed. Clinic attendance was much more infrequent than recommended by physicians, and 42% of the sample withdrew from medical care. Patients who had a history of not showing during appointments had higher HbA1c levels than those who attended regularly scheduled visits; however, contrary to our hypotheses, average number of clinic visits was not associated with HbA1c levels or zBMI. Given the increased risk for health complications, new strategies are needed to keep patients engaged with medical care.

Homozygous or compound heterozygous mutations in the GH receptor (GHR) gene result in GH insensitivity syndrome. Previous reports have shown that some heterozygous mutations may induce a partial insensitivity to GH, but others appear to have limited effect on growth. To investigate further these observations, we analyzed the GHR gene in 17 subjects with idiopathic short stature (ISS). All subjects had a height 2 sd or more below the mean and/or abnormal growth velocity. In addition, serum GH levels were 10 ng/mL or more and insulin-like growth factor I levels were normal or low. A novel heterozygous mutation resulting in a valine to isoleucine change (V144I) in exon 6 in the extracellular domain was found in one subject. His mother and one brother had significant short stature and also had the identical mutation. Affected family members also had a polymorphism in exon 6 of the GHR gene, which has been present in other subjects who had short stature and heterozygous mutations of the GHR gene. The other sub...

Pediatric cardiomyopathies, which are rare but serious disorders of the muscles of the heart, affect at least one in every 100,000 children in the USA. Approximately 40% of children with symptomatic cardiomyopathy undergo heart transplantation or die from cardiac complications within 2 years. However, a significant number of children suffering from cardiomyopathy are surviving into adulthood, making it an important chronic illness for both pediatric and adult clinicians to understand. The natural history, risk factors, prevalence and incidence of this pediatric condition were not fully understood before the 1990s. Questions regarding optimal diagnostic, prognostic and treatment methods remain. Children require long-term follow-up into adulthood in order to identify the factors associated with best clinical practice including diagnostic approaches, as well as optimal treatment approaches. In this article, we comprehensively review current research on various presentations of this disease, along with current knowledge about their causes, treatments and clinical outcomes.

Objective This cross sectional study examined the relationship between parental health literacy (HL), diabetes related numeracy, and parental perceived diabetes self-efficacy on glycemic control in a sample of young children with Type 1 DM.

The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development. Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism.Our objective was to determine the frequency of GLI2 mutations in patients with multiple pituitary hormone deficiency (MPHD).Patients were selected from participants in the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) program. Patients with mutations within established candidate genes were excluded.A total of 165 patients with MPHD defined as GH deficiency and at least 1 additional pituitary hormone deficiency were studied regardless of the presence of extrapituitary clinical manifestations.Prevalence of GLI2 variations in MPHD patients was assessed and detailed phenotypic characterization is given. Transcriptional activity of identified GLI2 variants was evaluated by functional reporter assays.In 5 subjects, 4 heterozygous missense variants were identified, of which 2 are unpublished so far. One variant, p.R516P, results in vitro in a complete loss of protein function. In addition to GH deficiency, the carrier of the mutation demonstrates deficiency of thyrotrope and gonadotrope function, a maldescended posterior pituitary lobe, and polydactyly, but no midline defects.For the first time, we show that heterozygous amino acid substitutions within GLI2 may lead to MPHD with mild extrapituitary findings. The phenotype of GLI2 mutations is variable, and penetrance is incomplete. GLI2 mutations are associated with anterior pituitary hypoplasia, and frequently, ectopy of the posterior lobe occurs.

The National Heart, Lung, and Blood Institute (NHLBI) Expert Panel in the United States (US) recently published its report, Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents. The Panel's goals were to develop comprehensive, evidence-based strategies for use by general practitioners in the primary and primordial prevention of cardiovascular disease (CVD). These Guidelines have been endorsed by the American Academy of Pediatrics. Many of the recommendations restate existing lifestyle guidance similar to those proposed by the Committee on Nutrition in 2008. However a debate has emerged because for the first time, universal and comprehensive childhood dyslipidemia screening and treatment is now recommended by these new Guidelines. Because of universal screening, dyslipidemia attributed to both lifestyle and genetic factors could potentially be ascertained. The recommendations to screen for serum lipids and glucose have stimulated heated discussions among pediatricians, subspecialists, and policy-makers. This commentary discusses the medical, psychosocial and economic benefits and risks of universal cholesterol screening in children.