Prader-Willi syndrome

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

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ACUTE

with acute illness

1st line – assessment and specialist management

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1st line –

assessment and specialist management

Prader-Willi syndrome (PWS) is a complex, multisystem neurological disorder and the clinical features may be extensive and wide ranging.[2] Acute presentations include:

Respiratory infections - these are common and respiratory failure is a leading cause of death in patients with PWS, particularly in children[1][9][59][60]
Severe gastric distension and necrosis in older children as a result of binge eating.[1][3]

Signs and symptoms of acute illness can be subtle or atypical and they may require specialised management.[3]

Always take a detailed history from the parents if a child with PWS doesn't seem their usual self.[3]
Patients typically have an increased pain threshold, meaning that symptoms of serious conditions or injuries may not be obvious.[3] The first signs of illness can be a change in level of alertness or behaviour; temperature is an unreliable indicator.[1][3]

ONGOING

without acute illness

1st line – multidisciplinary team management

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1st line –

multidisciplinary team management

Management of the wide-ranging medical, behavioural, and psychological features associated with Prader-Willi syndrome (PWS) requires specialist involvement from a core multidisciplinary team, including paediatric endocrinologists, endocrinologists, paediatricians, dietitians, medical geneticists, genetic counsellors, an orthopedist, the patient's primary care physician, and physical, occupational, and speech therapists.[1][2][3]

Other specialists may be involved depending on the patient's needs, and include a neurologist (if seizures are present), a pulmonary physician (for sleep-disordered breathing, narcolepsy, or cataplexy), an otolaryngologist (if tonsil or adenoid hypertrophy is a concern), and a psychiatrist or psychologist (if behavioural or mental health concerns arise).[1][2][3]

Interventions may include:

Assisted feeding in infants (e.g., special nipples, gavage feeding using a nasogastric tube).[2][3]
Management of hyperphagia and obesity (children >1 year), which should include management of access to food (including locking cupboards and refrigerator and supervision at times where food is available), education and plan regarding a well balanced diet, and provision of advice regarding vitamin supplementation.[1][2][3][45][46] See Obesity in children and Obesity in adults.
Physiotherapy and advice on physical exercise.[3]
Growth hormone treatment, which should be started in the first year of life.[1][2][3][50][51] See Growth hormone deficiency in children.
Management of hypogonadism (e.g., human chorionic gonadotrophin, sex hormone replacement treatment, orchiopexy) and consideration of pregnancy and infertility.[1][2][3][52]
Screening for and management of skeletal problems such as developmental dysplasia of the hip, scoliosis, and osteoporosis.[2][3][53] See Developmental dysplasia of the hip and Osteoporosis.
Screening and management of other endocrinological problems, such as primary and central hypothyroidism, central adrenal insufficiency, type 2 diabetes, and hyperlipidaemia.[2][3][54] See Primary hypothyroidism, Central hypothyroidism, and Type 2 diabetes in children.
Management of sleep disorders (e.g., tonsillectomy, adenoidectomy, and/or continuous positive airway pressure or bilevel positive airway pressure if the patient has sleep apnoea).[2][3][55] See Dyssomnias in children.
Prevention and management of skin picking (e.g., barrier techniques and consideration of topiramate or acetylcysteine).[1][3][56][57]
Psychological, behavioural, and educational interventions.[1][2][58]

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