Growing up with Prader-Willi syndrome

Prader-Willi syndrome is a complex and severe neurodevelopmental genetic disease with various stages of development. 

From the age of two, the eating behaviour of patients flips and they develop an increasing interest in food, followed by severe hyperphagia and a lack of satiety, often leading to morbid obesity. At all ages, dysfunctions with serious consequences are observed, leading to major treatment difficulties for patients, families and carers (dysphagia, learning, behavioural and social skills difficulties, and endocrine problems). 

Dysphagia, a threatening and underdiagnosed symptom with serious consequences, throughout life

Swallowing disorders – or dysphagia – persist at all ages in patients with Prader-Willi syndrome and are now recognised as a major medical issue. Swallowing fluoroscopy studies in children, adolescents and adults (Salehi, 2017; Gross, 2016; OT2suite, unpublished data) have in fact shown the presence of swallowing problems and major risk factors for pulmonary aspiration in the majority of these patients. 

These swallowing problems are thought to be related to oropharyngeal-oesophageal dysmotility (OPOD) in patients with PWS. 

Often underdiagnosed (due to an absence of clear clinical signs such as discomfort or cough) and therefore unrecognised, and associated with a high pain threshold in these patients and abnormal temperature regulation, dysphagia in Prader-Willi patients can increase the risk of infectious respiratory complications and pulmonary aspiration, as well as sudden death at any age (Stevenson, 2007; Butler 2017). Although dysphagia is not caused by eating behaviour, the risks and consequences of dysphagia may be exacerbated in the context of hyperphagia, a characteristic of Prader-Willi syndrome.