Children: Strabismus and myopia are common

Arrange an auditory brainstem response (ABR) in newborns

Undertake ophthalmology evaluation before 2 years of age, with particular attention to strabismus and visual acuity

Adults: Visual acuity is more commonly diminished than in the general population

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

Children: Decreased and sticky saliva flow can predispose to dental caries

Delays in teeth eruption and dental overcrowding may occur

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

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

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)

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.

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

Adults: Cardiopulmonary compromise is the most common cause of death

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

Children: At risk for sleep-disordered breathing

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.

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

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

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

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

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

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

Children: 80% - 90% of males have cryptorchidism

Precocious adrenarche may occur

Delayed and incomplete pubertal development is common in both sexes

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)

Adults: Incomplete pubertal development is common in both sexes

Refer to gynecologist/urologist, as indicated by clinical findings, and for guidance regarding HRT for both sexes

Adults: Males and most females are infertile

Pregnancy, though unlikely, has been reported

Educate and, if sexually active, counsel

Consider contraception in women who menstruate

Children: 30% - 70% have scoliosis

10% have hip dysplasia

Prevention of osteoporosis should start at an early age

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

Adults: Scoliosis and osteopenia/osteoporosis are common in both sexes.

Kyphosis may also occur

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

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

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

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

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

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

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

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

Refer to a genetics clinic for evaluation and counseling, where appropriate