ESPE Abstracts

Background: Recombinant human growth hormone (r-hGH) treatment can optimise growth potential; however, optimum outcomes are not always achieved owing to several reasons, including poor adherence. This analysis sought to operationalize psychosocial drivers of non-adherence in GH patients, using the three-component, evidence-based capability, opportunity and motivation behavioural framework (COM-b). The framework allows for matching of specific interventions to help modify behav...

Background: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae.Objective and hypotheses: To describe the presentation, clinical and genetic outcomes in a series of infants with CHI.Method: Retrospective case series of 35 patients diagnosed with CHI between...

Background: Ireland has the highest prevalence of Down syndrome (DS) in Europe, affecting ~1 in 500 live births. Patients with DS are at increased risk of developing thyroid disorders during childhood. Hyperthyroidism can be difficult to recognise and treat in this population. First-line therapy with anti-thyroid drugs (ATDs) may help achieve remission, but relapse is common following discontinuation of medication. Definitive treatment with radio ablation or surgery is often c...

Background: Neonatal thyrotoxicosis, a rare and life-threatening condition, is caused by transplacental transfer of thyroid stimulating immunoglobulins from mother to infant. While clinical features may include goitre, prominent eyes and poor weight gain, these may be absent in some cases. Early diagnosis and treatment of affected infants is critical.Objective: We report a case series of infants with neonatal thyrotoxicosis from two tertiary paediatric h...

Background: CHI is a rare condition which can be related to neurological damage due to hypoglycaemic brain injury. Long hospital admissions maybe necessary which can impact babies’ experience of posture and movement, translating to a motor delay. A physiotherapy developmental assessment is a vital part of a multidisciplinary team approach to personalising care. Assessment during admission is essential to provide appropriate developmental support, particu...

Background: In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to hypoglycaemia. It is possible that other pancreatic hormones are also dysregulated in CHI.Objectives: i) To verify the utility of Luminex Multiplex to determine pancreatic hormones in the paediatric age. ii) To investigate the response of pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) to a fast in children with CHI due to different...

Introduction: Early initiation of diazoxide (DZX) treatment in neonates with HH can prevent permanent hypoglycaemic brain injury. The DZX standard therapeutic dose (STD) is 5 mg/kg/day, and rarely associated with adverse events. There are limited data for the effectiveness and safety of DZX low-dose (<5mg/kg/day) for the treatment of HH neonates.Aim: To assess efficacy and safety of low-dose DZX in HH newborns.<p ...

Background: Hyperinsulinism (HI) is a major cause of hypoglycaemia during childhood and is related with neurological damage. Among the therapeutic options for HI patients with limited fasting tolerance are intensive feeding regimes, requiring continuous overnight and regular daytime feeds via gastrostomy. Two types of gastrostomy device are commonly used: Freka Percutaneous (FPEG) and Mic-key button (MB). MB is expected to have a higher rate of unintentional d...

Introduction: A promoter mutation (c.167G>T) in the phosphomannomutase 2 (PMM2) gene, either homozygous or occurring in trans with a PMM2 coding mutation, causes hyperinsulinism (HI) and polycystic kidney disease (PKD) – HIPKD. Organ-specific deficiency of PMM2 leads to the restricted phenotype of HIPKD, without typical clinical features of the Congenital Disorder of Glycosylation Type 1a (CDG1a), which is caused by recessive coding ...

Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction and both hyperglycaemia as well as hyperinsulinaemic hypoglycaemia (HH) have been reported. Although the mechanism is unclear, autonomic dysfunction may underlie this dysregulation of glucose homeos...