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Prematurity and Genetic Testing for Neonatal Diabetes.

ABSTRACT: Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our knowledge, have investigated the prevalence of monogenic forms of diabetes in preterm infants.We studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born <37 weeks and compared them with 604 born ?37 weeks.A genetic etiology was found in 97/146 (66%) preterm infants compared with 501/604 (83%) born ?37weeks, P < .0001. Chromosome 6q24 imprinting abnormalities (27% vs 12%, P = .0001) and GATA6 mutations (9% vs 2%, P = .003) occurred more commonly in preterm than term infants while mutations in KCNJ11 were less common (21 vs 34%, P = .008). Preterm patients with an identified mutation were diagnosed later than those without an identified mutation (median [interquartile range] 35 [34 to 36] weeks vs 31 [28 to 36] weeks, P < .0001). No difference was seen in other clinical characteristics of preterm patients with and without an identified mutation including age of presentation, birth weight, and time to referral.Patients with neonatal diabetes due to a monogenic etiology can be born preterm, especially those with 6q24 abnormalities or GATA6 mutations. A genetic etiology is more likely in patients with less severe prematurity (>32 weeks). Prematurity should not prevent referral for genetic testing as 37% have a potassium channel mutation and as a result can get improved control by replacing insulin with sulphonylurea therapy.

SUBMITTER: Besser RE

PROVIDER: S-EPMC5049686 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Prematurity and Genetic Testing for Neonatal Diabetes.

Besser Rachel E J RE Flanagan Sarah E SE Mackay Deborah G J DG Temple I K IK Shepherd Maggie H MH Shields Beverley M BM Ellard Sian S Hattersley Andrew T AT

Pediatrics 20160818 3

<h4>Background</h4>Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our knowledge, have investigated the prevalence of monogenic forms of diabetes in preterm infants.<h4>Methods</h4>We studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born <37 weeks and compared them with 604 born ≥37 wee ...[more]

PMID: 27540106

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Project description:IntroductionIt is well established that a premature birth increases the likelihood of developing anxiety during the postpartum period, and that the environment of the neonatal intensive care unit (NICU) might be a contributing factor. Mothers of earlier premature infants may experience these anxieties to a higher degree compared to mothers of later premature infants. The aim of this study was to explore the association between prematurity and postpartum-specific anxiety, and the relationship between postpartum-specific anxiety and stress in the NICU.Materials and methodsMothers (N = 237) of infants aged between birth and 12 months completed an online survey containing the Postpartum Specific Anxiety Scale - Research Short Form (PSAS-RSF) and the Parental Stressor Scale: Neonatal Intensive Care Unit (PSS:NICU). Structural equation modeling was used to analyze the relationship between gestational age and postpartum-specific anxiety, with one-way ANOVAs used to analyze this relationship with respect to categories of gestational age. Hierarchical regression models analyzed the relationship between postpartum-specific anxiety and stress in the NICU.ResultsFor the PSAS-RSF, Practical Infant Care Anxieties (p = 0.001), Maternal Competence and Attachment Anxieties (p = 0.033), and Infant Safety and Welfare Anxieties (p = 0.020) were significantly associated with week of gestation. Practical Infant Care and Infant Safety and Welfare Anxieties were significantly higher for mothers of late premature infants, compared to mothers of term infants (p < 0.001; p = 0.019). There were no significant between-group differences with respect to Maternal Competence and Attachment Anxieties. After controlling for potential confounders, Infant Safety and Welfare Anxieties were significantly associated with increased stress in the NICU (p < 0.001) as measured by the PSS:NICU.ConclusionsOur findings highlight the need for interventions for mothers with premature infants, which specifically target anxieties reflected in the PSAS-RSF, such as routine care and increasing maternal self-efficacy.

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Prematurity and Genetic Testing for Neonatal Diabetes.

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Prematurity and Genetic Testing for Neonatal Diabetes.

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