ESPE Abstracts

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

Background: A meta-analysis of 39 studies using multicomponent lifestyle interventions, in comparison to standard, minimal, or no treatment identified a mean difference in BMI z-score of -0.12 (95% CI -0.17 to -0.06) at six months. However, a minimum BMI-SDS reduction of 0.25 or greater has been shown to improve metabolic health in overweight children. We describe our experience in a multidisciplinary (MDT) clinic at a tertiary children's hospital with...

Background: Interplay of various factors contribute to development of morbid childhood obesity and to its recalcitrant nature making it a treatment challenge. A tertiary level, structured multidisciplinary outpatient approach may not always be sufficient in identifying morbid obesity causation. In the absence of other effective treatment modalities, a hospital stay approach can be a suitable option in selected resistant cases.Met...

Background: Craniopharyngioma is a non-malignant embryonic tumour in the pituitary-hypothalamic area, associated with hypothalamic obesity. Dysfunctional parasympathetic nervous system activity has been proposed as one mechanism underlying alterations in energy metabolism. Arterial spin labelling (ASL) is a non-invasive MRI technique that quantifies brain tissue perfusion as a proxy for functional activity. Here, we measure cerebral perfusion in patients with ...

Background: Craniopharyngioma is a non-malignant, embryological brain tumour in the sellar and parasellar region. Hypothalamic damage is common and accompanied by development of obesity in at least 50% of cases. Mechanisms underlying hypothalamic obesity in craniopharyngioma patients however remain unclear and treatment options are invasive and limited. This feasibility study included a novel application of functional neuroimaging, an established method in obe...

Background: Craniopharyngioma is a rare, suprasellar tumour, which, together with associated surgery or radiotherapy, results in damage to the hypothalamus and severe obesity in approximately 50% of cases. The multi-factorial mechanisms underlying the development of obesity in craniopharyngioma are not well understood. Hypothalamic damage in craniopharyngioma has been associated with dysfunctional parasympathetic nervous system activity leading to altered gluc...

Introduction: Paediatric morbid obesity (BMI >99.6th centile for age) causes severe obstructive sleep apnoea (OSA) requiring respiratory support. Patient prognosis is poor and requires urgent intervention. Four patients with morbid obesity and severe OSA were admitted for multidisciplinary team (MDT) intensive weight management and continuous positive airway pressure (CPAP) initiation.Methods: The patients...

Background: Children and young people living with severe obesity experience a range of complications of excess weight (CEW), however the prevalence of complications is not well defined. We have evaluated baseline clinical characteristics and CEW of patients seen in two multi-disciplinary tier-3 paediatric weight management services in different regions of the UK.Methods: All new patients (n=185) aged 2-17 years ...

Longitudinal growth is driven by endochondral ossification at the growth plate, where chondrocytes undergo a well-organized cellular differentiation process from stem-like progenitors to rapidly-proliferating transit-amplifying cells and to hypertrophic chondrocytes. Numerous recent studies have demonstrated that epigenetic modifications play a crucial role in human development and childhood growth. For example, Brachydactyly mental retardation syndrome (BDMR) is caused by hap...