| | Characteristics and monitoring | Interventions |
| Feeding and obesity |
| Infants | - Feeding problems, poor weight gain, lack of interest in feeding
| - Oromotor therapy
- Concentrated feeds (consult dietitian); commonly, nasogastric supplemental feeds
|
| Children and adults | - Hyperphagia, obesity when there is a lack of environmental control
| - Food restriction (with physical barriers) at home and school
- Calorie-restricted diet/low-carbohydrate diet; consult dietitian
- Exercise/physical therapy
- Consider pharmacotherapy if above actions are not effective
- Refer/discuss management of challenging cases with a PWS center
|
| Behavior and neurodevelopment |
| Motor skills | | - Early intervention, occupational therapy, rhGH
- Carnitine supplements if deficient
|
| Behavioral rigidity, obsessive-compulsive behaviors | | - Behavioral specialist
- Pharmacotherapy
|
| Skin picking | | - Possible options:
- N-acetylcysteine
- Guanfacine
- Topiramate
|
| Anxiety | | - Behavioral therapy
- Pharmacotherapy (use with caution due to risk of activation)
|
| Cognitive and learning deficits | - Mild or moderate intellectual disability (mean IQ 60)
| - Early intervention therapies (occupational therapy, physical therapy)
|
| Endocrine issues |
| Growth hormone deficiency | - rhGH improves linear growth, body composition, bone density, physical function, and motor development; in young children, it may promote cognitive development
| - Initiate shortly after diagnosis of PWS (if nutrition is adequate)
- Benefits children and adults, with or without growth hormone deficiency
- Monitor for respiratory complications and hyperglycemia before and during therapy
- Monitor for development or worsening of scoliosis (children)
|
| Hypogonadism | - Cryptorchidism
- Pubertal delay
- Infertility
| - hCG (3 to 18 months old)
- Orchiopexy if needed
- Treatment for hypogonadism as needed*
- Birth control pills for fertile women
|
| Low bone mineral density and osteoporosis | - DXA every 2 to 3 years beginning in late childhood
| - Dietary calcium and vitamin D
- Sex steroid replacement*
- rhGH treatment
- For osteoporosis, consider treatment with bone resorption inhibitors in adults
|
| Hypothyroidism | - Measure fT4 (to detect central hypothyroidism) and TSH (to diagnose primary hypothyroidism)
- Monitor every few months during the first year of life, then annually thereafter
| - Management is similar to other patients with central hypothyroidism¶
|
| Central adrenal insufficiency | - Association with PWS is not established
- Test if symptoms develop (unexplained nausea, vomiting, or hypotension, especially during physical stress)
| - Management is similar to other patients with hypocortisolism¶
|
| Type 2 diabetes mellitus | - Test with fasting blood glucose, hemoglobin A1c
- Test annually in patients with obesity
| - Food security and physical activity are essential to management
- Management is otherwise similar to other patients with type 2 diabetes¶Δ
|
| Sleep disorders |
| Sleep apnea | - Mostly obstructive but may have central component
- Monitor for sleep-related symptoms
- PSG is indicated after start of growth hormone, at age 3 years, and if there is significant weight gain or change in behavior
| - Adenotonsillectomy
- Residual symptoms are common
- CPAP may help but may be a challenge to implement, requiring behavioral intervention
- Tracheostomy in refractory cases
|
| Excessive daytime sleepiness | - Primary disorder of vigilance
| |
| Orthopedic problems |
| Scoliosis | - Clinical evaluation throughout growth
- Spine radiograph every 1 to 2 years, beginning at approximately 6 years
| - Evaluation by an orthopedic specialist if scoliosis is detected
|
| Hip dysplasia | | - Hip ultrasound (infants); frequency is not established
|
| Lower limb alignment abnormalities | | - Footwear technician
- Orthopedic specialist
|
