Table 5.

Executive summary.

Domain	Recommendation
Structure of healthcare team	Young people with PWS require multidisciplinary care, ideally through a network of specialist centres.
Genetic analysis	The diagnosis of PWS should be confirmed by genetic analysis, and young people with PWS should be referred for review by Clinical Genetics after genetic confirmation.
Growth	Height and weight should be measured at every clinical visit and plotted on standard growth charts for children and young people.
Nutrition	Children with PWS have the same micronutrient requirements as their peers, and multivitamins and minerals should be prescribed as appropriate.
	Caloric requirements are generally reduced, related to reduced energy expenditure secondary to hypotonia, but will vary depending on their age and growth. Input from experienced dietitians should be sought soon after diagnosis.
	Measures must be undertaken to ensure food security throughout life, together with encouraging physical activity.
Growth hormone	Due to the potential upper respiratory changes associated with GH therapy, a level 2 (cardio-respiratory) sleep study is mandatory before the start of GH therapy through liaison with local respiratory services.
	Where an appropriate sleep study has been obtained, GH should be recommended to start prior to the age of 1 year.
	A starting dose of 0.5 mg/m2 daily (9–15 µg/kg/day) is suggested, increasing the dose to 1.0 mg/m2 daily (35 µg/kg/day) over a period of 3–6 months.
	Body surface area should be used to avoid inappropriately high GH doses in overweight/obese individuals.
	Serum IGF-1 concentrations may be higher in PWS, but levels more than twice the upper limit of normal should be avoided and indicate the need for GH dose reduction.
	Evaluation of the GH axis at final height should be considered using GH stimulation testing after at least 1 month off GH therapy via a GHRH-arginine test.
	GH may be used in adults with PWS up to the age of 25 years, but thereafter the data supporting this intervention are sparse.
Hypogonadism	Premature adrenarche are common in children with PWS and do not require treatment.
	Hypogonadism is a constant feature in PWS and may require treatment with testosterone or oestradiol/progesterone, as appropriate.
Other endocrine dysfunction	No routine screening is required for adrenal insufficiency in PWS.
	Screening for hypothyroidism should be undertaken regularly.
Sleep studies	We recommend as a minimum, a full level 2 (cardio-respiratory) sleep study every 2–3 years in those under the age of 5 years on GH therapy, or sooner if there are clinical concerns suggestive of worsening OSA, even if the patients have had a previous normal sleep study.
	In those over the age of 5 years, cardio-respiratory sleep studies should be considered where there are clinical concerns, perhaps associated with significant weight gain, such as increased lethargy and acute changes in behaviour.
Muscle function	Exercise is an essential part of management in PWS and should be recommended at all stages as an adjunct to preventing obesity.
Bone health	It is important to optimize bone health through sex steroid replacement, vitamin D/calcium supplementation, and physical activity.
	Dual energy X-ray absorptiometry (DXA) scans should be considered at the point of transition to adult services.
Spine	Annual clinical examination of the spine should be undertaken.
	Spinal x-rays should be performed every 2 years once the child is able to sit independently until the age of 5 years.
	Thereafter, repeat X-rays are recommended at 10 years and then at least every 2 years during puberty, and more regularly if clinically indicated, until the cessation of growth. If there is evidence of scoliosis (Cobb angle >10°) on initial or follow-up X-rays, referral/discussion with the local paediatric spinal team should be undertaken.
	A Cobb angle exceeding 25° requires urgent referral to the paediatric spinal team for further assessment and management.
Learning, cognition, and development	Additional support for learning, cognition, and development may be required from a range of professionals, including educational psychology, occupational therapy, physiotherapy, and speech and language therapy.
	Individualised education and healthcare plans (EHCP) should be developed for all children with PWS to trigger statutory channels of support via the local education authority (LEA) and children’s services.
Parent/Caregiver support	PWS confers high levels of caregiver and family burden. The PWSA-UK, PWSA-I, IPSWO, and other national PWS charities offer advice and support for PWS families, education, and social services professionals. This includes introducing respite care for families sooner rather than later.
Mental health and behaviour	All CA with PWS with associated behavioural problems should be sign-posted to PWS associations for information and guidance, and if appropriate, should be able to access either local LD or mainstream CAMHS services. Respite care is very valuable where available.
Transition to adult services	Transition to adult PWS clinical and community services should involve multi-disciplinary support and a physician such as an endocrinologist acting as a core healthcare professional.