Presentation and characteristics of children with screen-detected type 1 diabetes: learnings from the ELSA general population pediatric screening study.

INTRODUCTION: We describe the identification and management of general population screen-detected type 1 diabetes (T1D) and share learnings for best practice. RESEARCH DESIGN AND METHODS: Children diagnosed with T1D through a general population screening initiative, the EarLy Surveillance for Autoimmune diabetes (ELSA) study, were reviewed and described.Parents provided written, informed consent for inclusion in the case series. RESULTS: 14 children with insulin requiring (stage 3) T1D are described. These cases offer unique insights into the features of screen-detected T1D. T1D is identified sooner through screening programs, characterized by absent/short symptom duration, median presenting glycated hemoglobin 6.6% (49 mmol/mol) and insulin requirements<0.5 units/kg/day. ELSA identified four children at stage 3 and another 4 progressed within 4 months of ELSA completion, including two single seropositive children. Six children developed stage 3 T1D prior to ELSA completion, including two children (14%, n=2/14) with diabetic ketoacidosis prior to confirmed antibody status. CONCLUSIONS: There are three main learnings from this case series. First, T1D identified through screening is at an earlier stage of its natural history and requires personalized insulin regimens with lower total daily insulin doses. Second, single autoantibody seropositivity can rapidly progress to stage 3. Finally, insulin requirement can manifest at any stage of the T1D screening pathway, and therefore early education around symptom recognition is essential for families participating in screening programs.

Home remedy or hazard?: management and costs of paediatric steam inhalation therapy burn injuries.

BACKGROUND: Steam inhalation has long been considered a beneficial home remedy to treat children with viral respiratory tract infections, but there is no evidence to suggest a benefit and children are at risk of serious burn injuries. AIM: To determine the demographics, mechanism, management, and costs of steam inhalation therapy scalds to a regional burns centre in the UK, and to ascertain whether this practice is recommended by primary care providers. DESIGN AND SETTING: A retrospective study of all patients admitted to a regional burns centre in Swansea, Wales, with steam inhalation therapy scalds. METHOD: Patients who attended the burns centre for steam inhalation therapy scalds between January 2010 and February 2015 were identified using the burns database and data on patient demographics, treatment, and costs incurred were recorded. In addition, an electronic survey was e-mailed to 150 local GPs to determine whether they recommended steam inhalation therapy to patients. RESULTS: Sixteen children attended the burns centre with steam inhalation scalds. The average age attending was 7.4 years (range 1-15 years) and, on average, three children per year were admitted. The most common indication was for the common cold (n = 9). The average size of the burns was 3.1% (range: 0.25-17.0%) of total body area. One child was managed surgically; the remainder were treated with dressings, although one patient required a stay in a high-dependency unit. The total cost of treatment for all patients was £37,133. All in all, 17 out of 21 GPs surveyed recommended steam inhalation to their patients; eight out of 19 GPs recommended it for children aged <5 years. CONCLUSION: Steam inhalation incurs a significant cost to patients and the healthcare system. Its practice continues to be recommended by GPs but children, due to their limited motor skills, curiosity, and poor awareness of danger, are at significant risk of burn injuries and this dangerous practice should no longer be recommended.

Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series.

We describe seven infants with transient congenital hypothyroidism (CH) due to maternal thyroid-stimulating hormone receptor (TSH-R) blocking antibodies (TRAb) identified over three decades of newborn screening for CH in Wales, UK that represents a minimum incidence of 1.6% of CH cases. Infants with transient CH due to maternal TRAb presented with a spectrum of clinical and biochemical hypothyroidism. Blood spot TSH concentrations ranged 60.5-332 mIU/L. CH was confirmed by plasma thyroid function tests in all cases (plasma TSH ranged 21-752 mIU/L). The seven infants belonged to five different families. On examination, four infants were clinically hypothyroid. Five infants had a thyroid ultrasound, of which three were abnormal. All infants were treated with thyroxine, which was subsequently withdrawn from three. Following thyroxine withdrawal, one infant resumed normal thyroid function and two developed compensated hypothyroidism. Of the five mothers, two had undiagnosed hypothyroidism and three were receiving thyroxine for longstanding hypothyroidism. Thyroid peroxidase antibody (aTPO) was measured in four and was negative in two, borderline positive in one and strongly positive in another. TRAb was measured in all five women and was strongly positive in all of them. This case series highlights the importance of identifying CH due to TRAb by investigating both the infant and the mother following a raised TSH found on newborn screening. The identification of those infants with transient CH caused by maternal transfer of TRAb is essential for optimizing management during childhood (including potential withdrawal of thyroxine replacement in the longer term) and in any subsequent pregnancy.