hrp0089p2-p274 | Growth & Syndromes P2 | ESPE2018

KBG Syndrome: Our Experience and Unreported Clinical Features

Scarano Emanuela , Tassone Martina , Tamburrino Federica , Graziano Claudio , Perri Annamaria , Stefanelli Francesca , Vestrucci Benedetta , Mazzanti Laura

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

hrp0097p1-237 | Diabetes and Insulin | ESPE2023

Effects of the COVID-19 pandemic on anthropometric data, glycemic control, and lipid levels in children and young people with type 1 diabetes: two years of follow-up

Iughetti Lorenzo , Candia Francesco , Stefanelli Francesca , Trevisani Viola , F. Madeo Simona , Bruzzi Patrizia , Predieri Barbara

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

hrp0097p1-431 | Diabetes and Insulin | ESPE2023

Telemedicine usefulness in the follow-up of young people with diabetes 1 diabetes 2-years after the spread of COVID-19

Predieri Barbara , Candia Francesco , Stefanelli Francesca , Vandelli Sara , Lucaccioni Laura , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Telemedicine was adopted during the lockdown due to the COVID-19 pandemic in the follow-up of patients with type 1 diabetes (T1D). Because of its potential to reinforce self-management support outside health care settings it was used still after the lockdown.Objectives: Longitudinal and observational study aimed to investigate effectiveness of telemedicine in the follow-up of young people with T1D over the ...

hrp0095p1-51 | Diabetes and Insulin | ESPE2022

Health-related quality of life and metabolic control in children and young patients with type 1 diabetes and in their parents before and after the COVID-19 lockdown.

Predieri Barbara , Bruzzi Patrizia , Candia Francesco , Caccamo Paola , Sandoni Marcello , Stefanelli Francesca , Pugliese Marisa , Lucaccioni Laura , F. Madeo Simona , Iughetti Lorenzo

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...