| 1. Head, eyes, ears, nose, throat |
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- Children: Strabismus and myopia are common
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- Arrange an auditory brainstem response (ABR) in newborns
- Undertake ophthalmology evaluation before 2 years of age, with particular attention to strabismus and visual acuity
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- Adults: Visual acuity is more commonly diminished than in the general population
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- Perform office-based screening of vision annually as recommended for average-risk adults, and when symptoms or signs of visual problems are noted, including changes in behavior and adaptive functioning.
- Refer for vision assessment to detect glaucoma and cataracts every 5 years after age 45
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| 2. Dental |
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- Children: Decreased and sticky saliva flow can predispose to dental caries
- Delays in teeth eruption and dental overcrowding may occur
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- Attend to oral hygiene in infants and children including use of soft foam toothbrushes, as well as dental products (toothpaste, sugarless gums, mouthwash) to stimulate saliva production
- Arrange regular dental visits with particular attention to crowding of teeth and dental caries
- Make orthodontic referral, as necessary
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| 3. Cardiovascular |
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- Adults: Cor pulmonale is a commonly reported cardio-vascular complication in those who are obese or have significant obstructive sleep apnea (OSA)
- Cardiopulmonary compromise related to obesity is a common cause of death
- Hypertension is frequently reported but is uncommon in children
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- When any risk factor is present, screen for cardiovascular disease earlier and more regularly than in the general population and promote prevention (e.g., increasing physical activity, reducing smoking)
- Arrange cardiac evaluation, including cardiology consultation, for severely obese patients.
- Manage underlying obesity (see below)
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| 4. Respiratory |
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- Children: Unexpected death may be caused by respiratory obstruction early in growth hormone therapy
- Upper respiratory tract infections may affect some children and adults significantly.
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- Refer to ENT for evaluation for removal of tonsils/adenoids, if obstruction is present
- All patients with PWS who have an upper respiratory tract infection or other respiratory symptoms should be assessed as soon as possible
- Ascertain a sleep history and then arrange a sleep study before anesthesia, and if evidence of respiratory distress, sleep apnea, or obesity is present
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- Adults: Cardiopulmonary compromise is the most common cause of death
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- Ascertain a sleep history with attention to sleep disorders, obesity of any level, snoring, asthma, respiratory infections, and excessive daytime sleepiness
- Consider cardiology or pulmonary referral, as needed
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| 5. Sleep |
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- Children: At risk for sleep-disordered breathing
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- Arrange routine sleep studies during infancy and childhood, and before starting growth hormone therapy and three months after initiating therapy
- Ascertain a sleep history and arrange a sleep study before use of anesthesia, and if evidence of respiratory distress, sleep apnea or obesity is present.
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- Children and Adults: Narcolepsy/cataplexy is common than in the general population
- At risk for sleep paralysis upon falling asleep or awakening, which may include hallucinations
- Adults: Continue to be at risk for sleep-disordered breathing
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- Evaluate for daytime sleepiness or loss of muscle tone provoked by excitement or other strong emotions
- Ascertain a sleep history, with attention to sleep disorders, obesity, snoring, asthma, respiratory infections, and excessive daytime sleepiness
- Consider a sleep study, pulmonolgy, and ENT referral, as indicated
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| 6. Gastrointestinal & nutrition |
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- Children: Early concerns include gastroesophageal reflux disease (GERD) and reduced intake due to poor sucking
- Failure to thrive is common in infancy followed by the development of hyperphagia and obesity in early childhood
- ~10% develop gall bladder stones
- Gastroparesis is common
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- Ascertain a comprehensive GI and nutrition history
- Undertake video swallow in neonates based on clinical concerns
- Attend to feeding ability and need for assisted feeding
- Educate caregivers regarding the necessity of a lower-calorie regime, and environmental controls to prevent ready access to food
- Attend to diet, nutrition, physical activity, and obesity, including plotting weight on standard growth charts
- Refer to a dietitian/physician with experience in PWS, if possible, to develop an appropriate nutrition and food security regime
- Refer to a gastroenterologist, nutritionist, or dietician, as appropriate. Behavioral management programs should be instituted
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- Adults: Obesity is common without a nutrition and food security program
- Vomiting often reflects very serious illness (e.g., gastric necropsy)
- Gastroparesis is common
- Anal picking is common and may lead to colonic tears/bleeding
- Constipation due to hypotonia is common
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- Ascertain a comprehensive GI and nutrition history. Attend to diet, nutrition, and obesity. Refer to a gastroenterologist, dietitian/physician with experience in PWS. Implement the modified Red, Yellow, Green (RYG) 2 diet based on energy requirements (ideally measured by indirect calorimetry) and food security programs
- Behavioral management should be maintained with the assistance of a behavioral specialist
- In the event of emesis history, the adult with PWS requires immediate evaluation and possibly medical imaging
- Recommend daily multivitamins
- Provide usual interventions to prevent and manage constipation
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| 7. Genitourinary |
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- Children: 80% - 90% of males have cryptorchidism
- Precocious adrenarche may occur
- Delayed and incomplete pubertal development is common in both sexes
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- Verify testicular descent before 2 years of age
- Refer to a urologist for cryptorchidism (i.e., absence of one or both testes from the scrotum)
- Consider referral to an endocrinologist or gynecologist/urologist, as appropriate, regarding hormone replacement therapy (HRT)
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- Adults: Incomplete pubertal development is common in both sexes
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- Refer to gynecologist/urologist, as indicated by clinical findings, and for guidance regarding HRT for both sexes
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| 8. Sexual function |
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- Adults: Males and most females are infertile
- Pregnancy, though unlikely, has been reported
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- Educate and, if sexually active, counsel
- Consider contraception in women who menstruate
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| 9. Musculoskeletal |
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- Children: 30% - 70% have scoliosis
- 10% have hip dysplasia
- Prevention of osteoporosis should start at an early age
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- Assess for hip dysplasia in early infancy and before 2 years of age
- Evaluate for scoliosis from infancy
- Monitor with X-rays and refer to an orthopedic surgeon as necessary (Timing of surgical interventions are influenced by the severity of scoliosis and the degree of skeletal maturation)
- Ensure adequate intake of calcium and vitamins D3 and K from childhood
- Encourage a weight-bearing exercise program
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- Adults: Scoliosis and osteopenia/osteoporosis are common in both sexes.
- Kyphosis may also occur
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- Screen for scoliosis and kyphosis with spinal X-rays and refer to an orthopedic surgeon as necessary
- Assure adequate calcium and vitamins D3 and K intake
- Screen for osteoporosis with regular bone mineral density tests
- Refer to an endocrinologist for consideration of sex-hormone therapy to promote bone health
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| 10. Neurology |
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- Children: Hypotonia is common and leads to impaired or absent swallowing and sucking reflexes
- Hypotonia gradually improves over time
- 10% have epilepsy
- All have some degree of cognitive impairment
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- Undertake clinical evaluation with attention to reduced motor activity and psychomotor delay
- Consult relevant specialists as indicated by clinical findings
- Treat epilepsy as in general population
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| 11. Behavioral/mental health |
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- Children & Adults: Severe skin picking is common and tends to increase with age
- Severe maladaptive behaviors are common (including obsessive-compulsive disorders).
- Psychosis may occur in adolescents and adults. Some features of PWS (e.g., tantrums, aggression, compulsivity, anxiety and mood disorder) may be treated with specific pharmacological agents
- Risperidone, if indicated, does not usually lead to additional weight gain
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- Examine skin for evidence of severe skin picking, edema and skin breakdown
- A behavior management program is required to support their dietary requirements. Avoid food-related occupational and educational activities. Refer to a psychologist or psychiatrist familiar with PWS when necessary to assist in distinguishing between behavior problems and psychiatric illness
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| 12. Endocrine |
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- Children: Hypothyroidism, diabetes mellitus (Type II), growth hormone (GH) and sex hormone deficiencies may occur
- Growth hormone therapy and strict dietary modifications can normalize body habitus
- 60% can develop central adrenal insufficiency 3
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- Arrange for a PWS pediatric endocrinologist to assess for GH therapy as soon as diagnosis is confirmed. An orthopedic surgery referral may also be indicated before GH treatment is started
- Make ENT referral to evaluate upper airway with regards to enlarged tonsils and adenoids prior to starting GH therapy
- Screen before and during GH replacement for hypothyroidism, diabetes, and scoliosis. (See No. 4 Respiratory and No. 5 Sleep sections for other recommended assessments prior to GH replacement)
- Beginning at age 2, assess obese children for diabetes mellitus (Type II)
- Refer to an endocrinologist as appropriate for consideration of sex-hormone replacement therapy (See No. 7 Genitourinary above)
- Undertake cortisol evaluation for all children
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- Adults: As per children, growth and sex hormone deficiencies continue to be found
- Growth hormone therapy in adults can help to prevent obesity and improve strength and endurance
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- Undertake clinical assessment with attention to thyroid function, diabetes mellitus (Type II), and hypogonadism
- Refer to an endocrinologist, as appropriate, including for consideration of GH and sex-hormone therapy
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| 13. Other |
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- Molecular causes of PWS differ (e.g., in order of frequency: deletion, uniparental disomy, imprinting errors) each of which effect recurrence risks and possible clinical manifestations
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- Refer to a genetics clinic for evaluation and counseling, where appropriate
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