Background Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in children with hypoparathyroidism. Methods We describe three children with hypoparathyroidism in whom intercurrent illnesses led to hypocalcaemia and escalation of treatment with alfacalcidol (1-hydroxycholecalciferol) and calcium supplements. Results Three infants managed with standard treatment for hypoparathyroidism (two with homozygous mutations in GCMB2 gene and one with Sanjad-Sakati syndrome) developed symptomatic hypocalcaemia (two infants developed seizures) following respiratory or gastrointestinal illnesses. Substantial increases in alfacalcidol doses (up to three times their pre-illness doses) and calcium supplementation were required to achieve acceptable serum calcium concentrations. However, following resolution of illness, these children developed an increase in serum calcium and hypercalciuria, necessitating rapid reduction to pre-illness dosages of alfacalcidol and oral calcium supplementation. Conclusion Intercurrent illness may precipitate symptomatic hypocalcaemia in children with hypoparathyroidism, necessitating increase in dosages of alfacalcidol and calcium supplements. Close monitoring is required on resolution of the intercurrent illness, with timely reduction of dosages of active analogues of vitamin D and calcium supplements to prevent hypercalcaemia, hypercalciuria and nephrocalcinosis.

Aims There is limited data on the psychological sequelae of obesity in paediatric patients. We aimed to assess the prevalence of psychological comorbidities in obese paediatric patients and to explore whether patient and parent motivation scores can be used as a predictor for weight loss. Methods Internationally validated self-report questionnaires were offered to 19 patients and their parents from a tier 3 paediatric obesity clinic. These included the Paediatric Index of Emotional Distress (PI-ED); Beck Youth Inventory™ exploring self-perceptions of competency, potency and self-worth; Paediatric Quality of Life Inventory (PaedsQL™); Parent-Proxy report (PaedsQL™Parent) and two in-house derived motivation questionnaires for parents and patients. Results 14 patients completed the PI-ED, of which more than half (57%) reported emotional distress (5=female, 3=male). 15 patients completed the Beck Youth Inventory™ of which 53% reported low self-esteem (4=female, 4=male). 17 patients completed QoL scores and scored on average below normal cut offs for the social and physical domains, as well as for overall psychosocial health and overall QoL (total score). The parents of these children also reported below normal cut offs for all domains except schooling. Those aged <10 years reported the highest QoL scores. Females reported significantly lower scores for emotional, social and overall QoL domains, particularly those between 10–15.9 years. 18 children and 19 parents completed motivation scores. All of those reported medium to high motivation with a non-significant correlation between reduction in BMI SDS (z-score) and increased patient and parent motivation scores (p = 0.19 and p = 0.47 respectively). Discussion/Conclusion More than half of obese paediatric patients in our cohort experience a high prevalence of emotional distress and low self-esteem. Obese paediatric patients are at risk of experiencing reduced QoL. Females between the ages of 10–15.9 years are the most vulnerable to experiencing psychological comorbidities within this cohort. Initial observations may suggest high motivation scores are a positive indicator for weight change but more research should be carried out to establish a link.

Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy12 however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated. Aims and methods With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children with CHI. 43 patients were genotyped for potassium channel (KATP) mutations. Echocardiography was used to detect structural abnormalities and parameters for left/right/biventricular hypertrophy (LVH/RVH/BVH) that is, interventricular septal thickness in diastole (IVSd) and left ventricular posterior wall diameter (LVPWd) were used to quantify cardiac dysfunction, with serial echocardiography to assess cardiac improvement. ECG were used to corroborate muscle hypertrophy. Results In our cohort of 48 children, 94% (45/48) required diazoxide therapy for CHI management and 48.8% (21/43) had positive KATP mutations. Median age at echocardiography was 23 days (5 days to 10.8 years). Cardiac structural abnormalities were present in 15 (31%) (five patent ductus arteriosus, four atrial septal defect, two ventricular septal defect, two branch pulmonary artery stenosis, one aortic stenosis and one aberrant subclavian artery). Myocardial hypertrophy was present in 29(60%) [23 LVH, 1 RVH, 5 BVH]. Z scores for LVPWd and IVSd were more than 2SD above mean in 51% and 48% of patients respectively. ECG abnormalities consistent with myocardial hypertrophy were present in only 24% (5/21). Cardiac medications (diuretics, digoxin, β blockers) were required in seven (15%), with improved function and discontinuation of therapy in six (75%). No significant associations were found between birthweights, genotypes and cardiac defects using χ2 analysis. Conclusion Our results show that 60% of CHI patients had echocardiographic evidence of myocardial hypertrophy and 15% (7/48) with myocardial hypertrophy at baseline required cardiac supportive treatment with reversal of pathology in 75% (6/7). About a third of patients had cardiac structural abnormalities. We advocate early cardiac assessment in infants with CHI, with baseline echocardiography as the investigation of choice.

OBJECTIVE:In children with congenital hyperinsulinism (CHI), K(ATP) channel genes (ABCC8 and KCNJ11) can be screened rapidly for potential pathogenic mutations. We aimed to assess the contribution of rapid genetic testing to the clinical management of CHI.DESIGN:Follow-up observational study at two CHI referral hospitals.METHODS:Clinical outcomes such as subtotal pancreatectomy, (18)F-Dopa positron emission tomography-computed tomography (PET-CT) scanning, stability on medical treatment and remission were assessed in a cohort of 101 children with CHI.RESULTS:In total, 32 (32%) children had pathogenic mutations in K(ATP) channel genes (27 in ABCC8 and five in KCNJ11), of which 11 (34%) were novel. In those negative at initial screening, other mutations (GLUD1, GCK, and HNF4A) were identified in three children. Those with homozygous/compound heterozygous ABCC8/KCNJ11 mutations were more likely to require a subtotal pancreatectomy CHI (7/10, 70%). Those with paternal heterozygous mutations were investigated with (18)F-Dopa PET-CT scanning and 7/13 (54%) had a focal lesionectomy, whereas four (31%) required subtotal pancreatectomy for diffuse CHI. Those with maternal heterozygous mutations were most likely to achieve remission (5/5, 100%). In 66 with no identified mutation, 43 (65%) achieved remission, 22 (33%) were stable on medical treatment and only one child required a subtotal pancreatectomy.CONCLUSIONS:Rapid genetic analysis is important in the management pathway of CHI; it provides aetiological confirmation of the diagnosis, indicates the likely need for a subtotal pancreatectomy and identifies those who require (18)F-Dopa PET-CT scanning. In the absence of a mutation, reassurance of a favourable outcome can be given early in the course of CHI.

ObjectiveTo determine the effect of coeliac disease and treatment with a gluten-free diet on growth and glycaemic control in asymptomatic children with Type 1 diabetes.MethodsData were compared in children with coeliac disease diagnosed by annual antibody screening and jejunal biopsy and treated with a gluten-free diet (n = 49) against individuals who were antibody negative (n = 49) matched for age, sex and duration of diabetes.ResultsNo differences in growth were observed. In the years prior to diagnosis of coeliac disease, mean glycated haemoglobin (HbA(1c)) was lower in cases compared with control subjects [8.3 +/- 1.1% vs. 8.7 +/- 0.9%, P = 0.02 (mean +/- sd)]. In cases, HbA(1c) deteriorated 12 months from the start of a gluten-free diet to levels similar to control subjects (8.9 +/- 1.5% vs. 8.8 +/- 1.5%, P-value for analysis of variance = 0.9). In regression analysis, the diagnosis of coeliac disease and start of a gluten-free diet was associated with a rise in HbA(1c) in the first year of treatment [odds ratio 1.56 (95% confidence intervals 1.16-2.10), P = 0.003] after adjusting for insulin dose and regimen and other variables.ConclusionsIn children with Type 1 diabetes, lower HbA(1c) prior to diagnosis of silent coeliac disease rises following treatment with a gluten-free diet to levels similar to those without coeliac disease. Although unproven, these observations may relate to abnormalities at the small bowel mucosa before the appearance of circulating coeliac antibodies.