Prader-Willi Syndrome

Health Watch Table

(Printable PDF version can be found at the bottom)

Considerations	Recommendations
1. Head, eyes, ears, nose, throat
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
2. Dental
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
3. Cardiovascular
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)
4. Respiratory
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
5. Sleep
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 more 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, pulmonology, and ENT referral, as indicated
6. Gastrointestinal & nutrition
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
7. Genitourinary
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
8. Sexual function
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
9. Musculoskeletal
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
10. Neurology
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	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
11. Behavioral/mental 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
12. Endocrine
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	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
13. Other
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

Original tool: © 2011 Surrey Place Centre.
Developed by Forster-Gibson C, Berg J, & Developmental Disabilities Primary Care Initiative Co-editors.

Expert Clinician Reviewers
Thanks to the following clinicians for their review and helpful suggestions.

Karen Balko, RD
Coordinator of Prader-Willi Syndrome Clinic, North York General Hospital
Toronto, Ontario
Glenn Berall, MD
Chief of Pediatrics, North York General Hospital
Toronto, Ontario
Suzanne B. Cassidy, MD
Clinical Professor of Pediatrics,
Division of Medical Genetics
University of California, Irvine, California

Modified with permission of Surrey Place Centre. This tool was reviewed and adapted for U.S. use by physicians on the Toolkit’s Advisory Committee .

Additional reviewer was Elizabeth Roof, MA, Senior Research Specialist, Prader-Willi and Williams Syndrome Research Projects, Vanderbilt Kennedy Center, Nashville, TN.

Resources

10 published Prader-Willi syndrome health care guidelines reviewed and compared. For the full list of references, see the Surrey Place Prader-Willi Syndrome Health Watch Table. Accessed September 2026.
Prader-Willi syndrome websites that may be helpful for families and support persons:
- Prader-Willi Syndrome Association USA. Accessed September 2026.
- Ontario Prader Willi Syndrome Association. Accessed September 2026.
- Pittsburgh Partnership, Specialists in Prader-Willi Syndrome. Accessed September 2026.
- Foundation for Prader-Willi Research. Accessed September 2026.

References

Sullivan WF, Berg JM, Bradley E, Cheetham T, Denton R, Heng J, Hennen B, Joyce D, Kelly M, Korossy M, Lunsky Y, McMillan S. Primary care of adults with developmental disabilities: Canadian consensus guidelines. Can Fam Physician 2011;57:541-53.
Balko K. Red yellow green: system for weight management. Toronto: Ontario Prader-Willi Syndrome Association; 2005.
de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, et al. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab. 2008 May;93(5):1649-54.

Other references consulted:

Deal CL. Tony M. Hoybye C. Allen DB. Tauber M. Christiansen JS. 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants. Journal of Clinical Endocrinology & Metabolism. 2013 June; 98(6):E1072-87.

Access: Prader-Willi Syndrome Health Watch Table as PDF file

Share this page: