ESPE Abstracts

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

Keywords: Congenital Adrenal Hyperplasia, Parent’s experience, Focus Group DiscussionBackground: Congenital Adrenal Hyperplasia (CAH) leads to many unseen social burdens for parents, including ambiguous genitalia (in girls), lifelong use of medication, including stress dosing, social and psychological pressure, and stigmatization. This study aimed to investigate various lived experiences of parents caring for their...

Background: Those affected by adrenal insufficiency (AI) (including congenital adrenal hyperplasia (CAH)) are at risk of serious illness and growth problems, and as a result they require life-long daily hormone replacement therapy. Little is known about the psychosocial impact that living with and treating AI on a daily basis can have on both children and their parents.Objective and hypotheses: The aim of the study was to explore the psychosocial impact ...

Background & objectives: An important aspect of managing type 1 diabetes is to identify and address the apprehensions of patients and parents of newly diagnosed type 1 diabetes. Understanding parental difficulties in managing type1 diabetes and promptly dealing them will surely affect the short and long-term outcome in children. The aim of this study was to determine the affective response of parents after the diagnosis of type 1 diabetes in a developing c...

Introduction: Several studies show the negative impact of low level of studies of parents on the dietary patterns and the degree of adiposity of their children. The objective of this study is to evaluate the relationship between the level of studies and compliance with the recommendations of healthy eating pyramid.Material and method: An anthropometric study was conducted in 895 Spanish children and adolescents (53% women), between 3 and 18 years old (10...

Aim: To examine offspring of patients with simple obesity. To ascertain, if there are some disturbances in the carbohydrate or lipid metabolism or unknown type 2 diabetes in these subjects.Method and subjects: Examined were 132 families, 108 families with obesity, and 24 families without obesity, the control group. 14 additional were excluded because of ascertained at the time of examination unknown type 2 diabetes in the parents. In all of the offspring...

Background: Prenatal diagnostics (PND), as any achievement in genetic research, brings ethical and moral dilemmas that need to be a subject of reflection and debate in modern societies.Objective and hypotheses: Once the expecting parents have undergone PND, data about abnormalities confront them with moral dilemmas regarding the decision on the life or death of the unborn child, the responsibility for it, and possible suffering during its future life. Ps...

Background: Glycaemic control is adversely affected by family conflict derived from the psychological impact of the disease upon parents.Objective and hypotheses: To identify parental psychological stressors and thus interventions deemed useful to provide parental support.Method: 252 diabetic children were identified and PIP questionnaires were sent to each household to assess parental stress. Two parental focus groups were held to...

CHARGE syndrome is a rare and complex disorder with an incidence of 1:15000 to 1:17000 live births. It is associated with a wide range of issues, including, but not limited to, coloboma of the eye, congenital heart disease, atresia of the choanae, retardation of growth and development, hypogonadotropic hypogonadism, ear abnormalities and hearing loss. Hypogonadotropic hypogonadism is present in 60-88% of individuals with CHARGE syndrome. In these patients, hormone replacement ...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...