ESPE Abstracts

Background: Limited research exists on how having a child with achondroplasia impacts parents' daily lives and well-being. The purpose of the study was to gather qualitative evidence to support the development of a parent experience measure that assess the impacts of having a child aged 2 to <12 years with achondroplasia.Methods: Concept elicitation interviews via individual telephone calls and an in-person focus...

Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.Methods: Individual telephone interviews and one parent focus group were conducted in the United S...

Background: Progeria syndromes caused by LMNA gene variants consist of Hutchinson-Gilford progeria syndrome (HGPS) and Atypical progeroid syndrome (APS). Various phenotypes of APS are previously reported, whereas HGPS shows relatively unique phenotype.Objective: To investigate the spectrum of clinical manifestations in three cases of Progeria syndrome.Methods: The history ...

Study aim was to create a prognostic algorithm of dopamine system dysfunction in pubertal age children, based on emotional instability markers, depending on body mass index and pubertal periods.Materials and Methods: Study subjects comprised 120 children (11.6 – 17.9 y/o, the 2nd – 5th Tanner stages) from Belarusian population between 2015 and 2017. Emotional status instability sings were obtained using th...