ESPE Abstracts

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

Background: Patients with mutations of the short-stature-homeobox-containing (SHOX) gene likely have impaired growth, with or without a spectrum of skeletal anomalies consistent with mesomelic skeletal dysplasia. In a multinational clinical trial, GH has been shown to increase growth rate and final height (FH).Objective and hypotheses: The aim of this analysis was to describe FH outcome after GH treatment in an observational setting (Genetics and Neuroen...

Background: Knowledge on multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII) regimen impacts on the out-of-hours advice given to families of children with diabetes. As such, knowledge base and attitudes of senior medical staff particularly middle grades regarding insulin therapy is paramount.Objective: Assessing confidence levels of middle grade doctors to provide advice on insulin regimens. We conducted a questionnaire ba...

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related neuroendocrine, cognitive and visual morbidity. A recent international survey highlighted the considerable variation in management strategies employed for these tumours, and the lack of any evidence- a...

Background: Children with structural hypothalamic-pituitary anomalies, e.g. ectopic posterior pituitary (EPP) with/without pituitary stalk interruption syndrome, septo-optic dysplasia (SOD), and isolated anterior pituitary aplasia/hypoplasia (AP/HP) usually have more severe GHD and better auxological outcomes with GH therapy than those with normal hypothalamic-pituitary magnetic resonance imaging findings. However, adult height data is limited.Objective:...

Background: Thyroid hormones are essential in the regulation of foetal and post-natal neurodevelopment. Despite early diagnosis and treatment of congenital hypothyroidism (CH) difficulties with language, hearing, memory and motor function persist for some children. However, comprehensive data about hearing, language and communication function in children with CH are not widely available.Objective and hypotheses: To evaluate hearing, language and communic...

Background: The phases of human growth are associated with gene expression (GE) changes1, raising the possibility that rhythmic patterns of GE occur throughout childhood.Objective: In this study, we have assessed time-series patterns of GE profiles associated with age to characterise oscillations.Methods: GE analysis was conducted on cells of lymphoid origin from normal individuals through childhood (n=87, 43 ma...

Background: Robot assisted therapy has the potential to provide emotional and educational support to young patients with type 1 diabetes (T1DM).Objective: To investigate the attitudes of children and young people with T1DM and that of their parents towards the concept of utilising a humanoid robot as an assistant in the management of their diabetes.Methods: A humanoid robot programmed to help self-management of T1DM at home was int...

Background: To date, one randomized, controlled, clinical trial (RCCT) demonstrated that GH-treated patients with SHOX deficiency (SHOX-D) had GH-mediated height gain comparable to that of girls with Turner syndrome (TS). No new safety concerns were identified, but the study was limited by small sample size.Objective and hypotheses: To examine long-term outcomes in patients treated in standard clinical practice, we assessed final height (FH) and safety o...