Janine Sanchez

Parent Perspectives of Diabetes Management in Schools

Purpose The purpose of this study is to investigate parent reports of the diabetes care support their children receive in school, their concerns about diabetes management in school, and their knowledge of federal laws that protect children with diabetes. In addition, the study explores ethnic and socioeconomic status differences in diabetes management in school. Methods An ethnically heterogeneous sample of 309 parents of children with diabetes was recruited from a community-based and a university-based diabetes outpatient clinic. Parents completed a survey assessing supports their childs school provides for diabetes care, worries about diabetes care in school, and awareness of federal laws that pertain to children with diabetes. Results Many children did not have a written care plan or a nurse at school, but significantly more white children had these supports than Hispanic or black children. Most children were not allowed to check blood glucose levels or administer insulin in class. Most parents were worried about hyperglycemia and hypoglycemia in school, and most were not at all or only a little confident in the schools ability to care for diabetes. Most parents were not aware of federal laws, but high-income and white parents were more likely to be aware. Conclusions According to parents in the current study, children receive inadequate diabetes management support in schools. Minority children are less likely to receive supports than white children. Parents are worried about diabetes management in school, but most do not have the knowledge of federal laws necessary to protect their children.

Madelung-like deformity in pseudohypoparathyroidism type 1b.

CONTEXT Pseudohypoparathyroidism (PHP) types 1a and 1b are distinguished by clinical, biochemical, and molecular features. We report extended kindred with PHP 1b in which many affected members also had growth plate defects, including brachydactyly and a Madelung-like deformity. DESIGN Analyses included clinical examination, assessment of mineral metabolism, thyroid function, skeletal radiography, and analysis of the GNAS and STX16 genes. SETTING Patients were studied in an academic medical center. RESULTS We studied 37 members of a family in which PHP 1b occurred in 23 individuals. Ten of 17 affected patients who were examined had brachydactyly E, including two subjects with Madelung-like defects. Five of 16 subjects had subclinical hypothyroidism; no subject showed sc ossification or short stature. None of the unaffected members had brachydactyly or an elevated serum level of PTH or TSH. Levels of immunoactive erythrocyte Gα(s) were normal in two affected subjects tested. Linkage analysis indicated linkage between PTH resistance and the GNAS gene locus; however, no mutations were identified in GNAS exons 1-13. Methylation analysis of genomic DNA from affected subjects showed loss of maternal epigenotype in exon 1A with normal methylation of the differentially methylated regions for XLGαs and NESP55, and PCR demonstrated heterozygosity for a 3.0-kb deletion in the STX16 gene. CONCLUSION The segregation of brachydactyly with PHP 1b in this family indicates that an imprinting defect in GNAS can lead to growth plate defects, including brachydactyly and Madelung deformity. These features suggest that GNAS signaling plays a more extensive role in chondrocyte maturation than previously thought.

Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

CONTEXT 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. OBJECTIVE Our objective was to determine the frequency of GLI2 mutations in patients with multiple pituitary hormone deficiency (MPHD). DESIGN 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. PATIENTS 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. MAIN OUTCOME MEASURES 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. RESULTS 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. CONCLUSIONS 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.

Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies

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.

Measurement of Parental Self-Efficacy for Diabetes Management in Young Children

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.

Clinic attendance and health outcomes of youth with type 2 diabetes mellitus

Abstract 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.

Intrinsic motivation in ethnic minority youth with type 1 diabetes

ABSTRACT 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 (mean age = 13.5 years) with T1D and their parents. The IMI-DM demonstrated excellent internal consistency (α = 0.92). 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.