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Prader-Willi syndrome
Prader-Willi syndrome
Description
The Paediatric Endocrinology Clinic provides diagnosis and follow-up care for patients aged 0 to 18 with an endocrine disorder, that is, a condition involving hormones (growth, puberty, pituitary gland, thyroid, adrenal glands, sexual development and bone metabolism). Some rare endocrine diseases require follow-up by several specialists. The doctor–nurse team aims to empower patients to become experts in their disease by informing them and listening to them as carefully as possible. Communication between the various specialists takes place during multidisciplinary meetings within HUDERF, in collaboration with Belgian teams (Belgian Study Group for Pediatric Endocrinology). At European level, the centre is integrated into and actively participates in the ENDO-ERN network, established by the European Commission. The idea is as follows: the European Union is a vast reservoir of knowledge and expertise, and it is ideas that travel, for the benefit of patients with rare diseases.
What is Prader–Willi syndrome?
Prader–Willi syndrome is a neurodevelopmental disorder of genetic origin (chromosome region 15q11.2-q13, unexpressed paternal allele). This syndrome includes endocrine (hormonal), as well as metabolic, neurological, child and adolescent psychiatric, orthopaedic and ENT manifestations. Dysregulation of the hypothalamic–pituitary axis underlies most endocrine manifestations.
Care management
During early childhood, up to approximately 2 years of age, feeding problems, muscular hypotonia and delayed psychomotor development are observed. Dietary management and physiotherapy are essential at this stage.
When the child reaches preschool age, other behavioural characteristics appear, including temper tantrums and an increasingly intense interest in food, with obsessive food-seeking behaviour progressing to severe obesity when access to food is not controlled. Improving weight control remains the most important objective of any treatment programme for Prader-Willi syndrome. A balanced, low-calorie diet should be introduced during the first months of life to prevent obesity and its consequences.
Intellectual disability and learning difficulties, as well as psychiatric disorders, become apparent at school age. Neuropaediatric and child and adolescent psychiatric follow-up is crucial at this stage.
Growth hormone deficiency is present in most patients and is associated with growth retardation, a reduction in lean body mass and an increase in fat mass, resulting in reduced muscle tone. Growth hormone treatment improves body composition by increasing lean body mass and reducing fat mass.
Cryptorchidism and hypogonadism of mixed central and peripheral origin are also present in most patients, with usually partial sex hormone deficiency, delayed and incomplete puberty, and complete infertility in men and very frequent infertility in women. Treatment is based on replacing the deficient sex hormones (oestrogen + progesterone in women and testosterone in men) to improve muscle mass and prevent bone demineralisation.
Endocrine disorders may include hypothyroidism and central adrenal insufficiency, observed in approximately 10% of affected individuals, for which replacement treatment with L-thyroxine and hydrocortisone, respectively, may be considered.
Insulin resistance and type 2 diabetes may also occur in the context of obesity. Other features of the syndrome include orthopaedic problems, temperature instability and periodic breathing with central and obstructive apnoeas.
Advice
This is a complex multisystem disease for which care by multidisciplinary teams is essential to provide the best possible support to patients and their families.
Transition to adulthood
Transitioning to follow-up in adult medicine is also an important stage to manage successfully.
Focus
Patients are monitored and treated by a multidisciplinary team comprising paediatric endocrinologists, paediatric orthopaedic surgeons, paediatric dietitians, speech and language therapists, and physiotherapists, all trained in Prader–Willi syndrome. Genetic testing and genetic counselling are carried out in a specialised laboratory. A 24-hour on-call service is provided.
Useful documents
Associated specialists
- Prof. Cécile Brachet
- Dr Emese Boros
- Dr Fiorenza Ulgiati
- Dr Alfredo Vicinanza
- Dr Sylvie Tenoutasse
- Prof. Claudine Heinrichs
- Prof. Silvia Ciancia
- Prof. Natacha Driessens
Associated services