Approach

Prader-Willi syndrome (PWS) consists of wide-ranging medical, behavioural, and psychological features and therefore requires a multidisciplinary approach to management throughout the patient's life.[1][2][3]​​​

Signs of acute illness may be subtle or atypical in patients with PWS.[1][3]​​

Multidisciplinary approach

Management of PWS requires specialist involvement from a core multidisciplinary team.[1][2]​​[3]

  • Key specialists include paediatric endocrinologists, endocrinologists, paediatricians, dietitians, medical geneticists, genetic counsellors, an orthopaedist, the patient's primary care physician, physotherapists, and occupational and speech therapists.

  • 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).

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. The benefits of bariatric surgery in patients with PWS are unclear and is not currently recommended as a standard form of treatment.[47][48]​​​​[49]

  • Encouragement of physical exercise.[3] Physiotherapy is also required to maximise mobility and to reduce the risk for later-onset orthopaedic complications.

  • 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:

    • Human chorionic gonadotrophin treatment may be considered for male patients with cryptorchidism, as well as orchiopexy before 3 years of age​[1][2][3]

    • Sex hormone replacement treatment is required from puberty onwards.[1][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.

    • 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, depending on the underlying cause (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 barrier techniques for skin picking (e.g., distraction, keeping fingernails, toenails, and cuticles trimmed, covering of lesions, gloves, and topical antibiotic ointment).[3] Topiramate or acetylcysteine may also be used.[1][56][57]​​

  • Psychological, behavioural, and educational interventions such as: an individualised education plan in school; an education, health and care plan (UK) GOV.UK: children with special educational needs and disabilities Opens in new window; evaluation for alternative means of communication for patients with expressive language difficulties; and interventions used in autism spectrum disorder (such as applied behaviour analysis therapy).​[1][2][58]

Management of acute illness

Signs and symptoms of illness can be more subtle in patients with PWS, 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]​​

  • Respiratory infections are common; respiratory infection and failure is a leading cause of death in patients with PWS, particularly in children.[1][9][59][60]

  • Older children are at risk of severe gastric distension and necrosis as a result of binge eating.[1][3]​​

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