hrp0094fc7.5 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Rituximab therapy in Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome

Hawton Katherine , Doffinger Rainer , Ramanan Athimalaipet , Langton Hewer Simon C , Giri Dinesh , Hamilton Shield Julian P ,

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...

hrp0092fc1.5 | Diabetes and Insulin Session 1 | ESPE2019

FADES: A Birth Cohort to Understand the Mechanisms Underlying Accelerated Onset of Autoimmunity in Children with Down's Syndrome

Williams Georgina , Mortimer Georgina L. , Leary Sam D. , Williams Alistair J.K. , Gillespie Kathleen M. , Hamilton - Shield Julian P.

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...

hrp0094p2-221 | Fat, metabolism and obesity | ESPE2021

“Sleep Properly, Reduce Intake, aNd Get Stepping” (SPRINGS): a multidisciplinary approach to managing paediatric morbid obesity with severe obstructive sleep apnoea

Hawton Katherine , Oakley uliette , Welsh Kathryn , Kilpin Kate , McLean Cal , Easter Shelley , Langton Hewer Simon C , Hamilton Shield Julian P , Giri Dinesh ,

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...