Up all night? Sleep disruption in parents of young children newly diagnosed with type 1 diabetes.

BACKGROUND: Despite the known challenges of parental adjustment to new-onset type 1 diabetes (T1D) in young children, little is known about parental sleep soon after diagnosis. METHODS: Parents (n = 157) of young children (4.5 ± 1.6 years) with new-onset T1D (29 ± 15 days) self-reported their sleep (Pittsburgh Sleep Quality Index, PSQI) at the baseline of a behavioral randomized control trial. We examined sleep patterns and relations with continuous glucose monitor (CGM) use. RESULTS: Over two-thirds (68.8%) reported poor sleep quality (PSQI > 5, M = 8.3 ± 4.1). The mean reported sleep duration was 5.9 ± 1.4 h/night. PSQI scores did not significantly differ by CGM use. CONCLUSIONS: Sleep disruption is a pervasive self-reported problem among parents of young children emerging early after the T1D diagnosis. Healthcare providers should discuss parental sleep as part of diabetes care soon after diagnosis. Further interventions targeting parental sleep may be of benefit.

Beyond A1C: A Practical Approach to Interpreting and Optimizing Continuous Glucose Data in Youth.

Despite significant pharmacological and technological advances in the treatment of type 1 diabetes, the majority of youth in the United States do not meet the American Diabetes Association's recommended A1C goal. Understanding and managing glycemic variability is important in children and adolescents. Because A1C provides an incomplete picture of day-to-day glycemic fluctuations, continuous glucose monitoring (CGM)-derived metrics are a promising addition to address glycemic management challenges in youth with diabetes. In this article, we discuss how to develop practical strategies to optimize the use of CGM in the pediatric population, interpret the valuable data it provides, and develop personalized and actionable treatment goals.

Barriers and Facilitators to Involvement in Children's Diabetes Management Among Minority Parents.

OBJECTIVE: This study aimed to describe parents' perceptions of the factors that facilitate or are barriers to their involvement in children's type 1 diabetes (T1D) management among African American and Latino parents. METHODS: African American and Latino parents (N = 28) of 5- to 9-year-old children with T1D completed audio-recorded, semi-structured interviews that were transcribed and analyzed using thematic analysis. Themes were identified that aligned with the theoretically-derived Capability-Opportunity-Motivation-Behavior (COM-B) framework. RESULTS: Parents described Capability-based facilitators of parent involvement, including positive stress management, religious/spiritual coping, organizational/planning skills, and diabetes knowledge. Capability-based barriers included child and parent distress. Interpersonal relationships, degree of flexibility in work environments, and access to diabetes technologies were both Opportunity-based facilitators and barriers; and Opportunity-based barriers consisted of food insecurity/low financial resources. Parents' desire for their child to have a "normal" life was described as both a Motivation-based facilitator and barrier. CONCLUSIONS: African American and Latino families described helpful and unhelpful factors that spanned all aspects of the COM-B model. Reinforcing or targeting families' unique psychological, interpersonal, and environmental strengths and challenges in multilevel interventions has potential to maximize parental involvement in children's diabetes management.

The clinical pattern of diabetes Insipidus in a large university hospital in the Middle East.

Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10,000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because of high consanguineous marriages.

Case-Based Curriculum for Pediatric Residents in Diabetes Fundamentals.

Introduction: Pediatricians are at the front line to diagnose new-onset diabetes and treat acute diabetes complications in children. Pediatric residents need a strong foundation in recognizing and managing pediatric diabetes, imposing a demand for a structured, comprehensive pediatric-specific diabetes curriculum. Methods: This three-module case-based curriculum focused on diabetes fundamentals relevant to pediatricians in the outpatient and inpatient settings. Each module covered an independent topic within pediatric diabetes. Topics included diabetic ketoacidosis, new-onset diabetes management, and acute complications of diabetes. The modules were focused, short, and flexible to accommodate learners' demanding clinical duties and time limitations. We delivered the curriculum to pediatric residents rotating in the inpatient endocrinology department over 3 separate days. Pre- and posttests assessed learners' knowledge and confidence in diabetes care. Results: We tested the curriculum for 7 months in 10 individual cycles, with 11 learners participating. We noted an increase in learners' scores on diabetes knowledge assessment of 16% (95% CI, 5-28; p = .01) after completing the curriculum. The residents' confidence in performing diabetes clinical care skills also improved, with the majority going from reporting low or neutral confidence before instruction to reporting high confidence after instruction. Learners reported 100% extreme satisfaction with the curriculum. Discussion: This case-based curriculum exposed residents to pediatric diabetes using authentic, clinically relevant, engaging scenarios. The curriculum enabled learners to actively rationalize their thought process and slow down learning. Short and focused, the curriculum was suitable for mitigating the cognitive load and the time constraints in busy clinical environments.

Endocrine Disorders in Primary Mitochondrial Disease.

CONTEXT: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. OBJECTIVE: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. DESIGN SETTING AND PATIENTS: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of primary mitochondrial disease confirmed by molecular genetic testing. MAIN OUTCOME MEASURES: Age-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism. RESULTS: The majority of our sample was pediatric (<18 years; 60.1%), female (56.9%), and white (85.9%). DM affected 2% of participants aged <18 years [95% confidence interval (CI): 0.4% to 5.7%] and 24.4% of adult participants (95% CI: 18.6% to 30.9%). DM prevalence was highest in individuals with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS; 31.9%, of whom 86.2% had the m.3243A>G mutation). DM occurred more often with mitochondrial DNA defects (point mutations and/or deletions) than with nuclear DNA mutations (23.3% vs 3.7%, respectively; P < 0.001). Other prevalence estimates were 44.1% (95% CI: 38.8% to 49.6%) for AGSM; 0.3% (95% CI: 0% to 1.6%) for hypoparathyroidism; and 6.3% (95% CI: 4% to 9.3%) for hypothyroidism. CONCLUSION: DM and AGSM are highly prevalent in primary mitochondrial disease. Certain clinical mitochondrial syndromes (MELAS and Kearns-Sayre/Pearson syndrome spectrum disorders) demonstrated a higher burden of endocrinopathies. Clinical screening practices should reflect the substantial prevalence of endocrine disorders in mitochondrial disease.

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.

BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory). CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.