Searchable abstracts of presentations at key conferences in endocrinology
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42nd Meeting of the British Society for Paediatric Endocrinology and Diabetes

Main Symposia

Endocrine Nurse Session

ea0036en1 | Endocrine Nurse Session | BSPED2014

Genetics: back to basics

Williams Jessica

The evolution of molecular genetics has altered our understanding of many endocrine conditions. Some conditions have clear inheritance patterns and others have a more complex genetic influence.Whilst genetic disorders have previously been considered to represent a small minority of the clinical workload, it is now apparent that many clinical conditions have some genetic influence.The purpose of this session is to re-familiarise som...

ea0036en2 | Endocrine Nurse Session | BSPED2014

Breathe-easy – the significance of respiratory assessment in Prader–Willi syndrome

Evans Hazel

Prader–Willi syndrome is a complex genetic disorder. The characteristics of hypotonia put children at increased risk of respiratory problems during childhood. These range from an increased propensity to respiratory infection to problems during sleep of central and obstructive sleep apnoea. Obesity a common finding in children with Prader–Willi syndrome has the tendency to exacerbate these increased risks. There are often concerns around the use of GH in children with...