Approach

Prader-Willi syndrome (PWS) consists of wide-ranging medical, behavioral, 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 pediatric endocrinologists, endocrinologists, pediatricians, dietitians, medical geneticists, genetic counselors, an orthopedist, the patient's primary care physician, and physical, 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 behavioral 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][46][47]​​​ 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.[48][49]​​​​[50]

  • Encouragement of physical exercise.[3] Physical therapy is also required to maximize mobility and to reduce the risk for later-onset orthopedic complications.

  • Growth hormone treatment, which should be started in the first year of life.[1][2][3][51][52]​​​​ See Growth hormone deficiency in children.

  • Management of hypogonadism:

    • Human chorionic gonadotropin 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 onward.[1][3][53]​​​

  • Screening for and management of:

    • Skeletal problems such as developmental dysplasia of the hip, scoliosis, and osteoporosis.[2][3][54] See Developmental dysplasia of the hip and Osteoporosis.

    • Other endocrinologic problems such as primary and central hypothyroidism, central adrenal insufficiency, type 2 diabetes, and hyperlipidemia.[2][3][55]​​ 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 apnea).[2][3][56]​​​ 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][57][58]​​

  • Psychological, behavioral, and educational interventions, such as an individualized education plan in school; a section 504 plan; evaluation for alternative means of communication (e.g.,  ASHA: augmentative and alternative communication Opens in new window​) for patients with expressive language difficulties; and interventions used in autism spectrum disorder (e.g., applied behavior analysis therapy).​[1][2][59]

Management of acute illness

Signs and symptoms of illness can be more subtle in patients with PWS, and they may require specialized 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 behavior; 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][60][61]

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

Use of this content is subject to our disclaimer