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Prader-Willi Syndrome Treatment & Management

  • Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Dec 24, 2015
 

Medical Care

Patients with Prader-Willi syndrome (PWS) frequently require medical care for the following:[38]

  • Initial management of hypotonia or poor feeding
  • Evaluation for hypogonadism or hypopituitarism
  • Management of obesity
  • Monitoring for scoliosis
  • Therapy for behavioral issues

On June 20, 2000, the US Food and Drug Administration (FDA) approved the use of growth hormone in children with genetically confirmed Prader-Willi syndrome and evidence of growth failure.[43, 44, 45]  A study by Bakker et al indicated that growth hormone therapy improves the health-related quality of life (HRQOL) in children with Prader-Willi syndrome. The study included annual HRQOL assessments over an 11-year period.[46]

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Surgical Care

See the list below:

  • Patients with Prader-Willi syndrome may require surgical care for treatment of complications of obesity, treatment of cryptorchidism, and scoliosis intervention. They may require urgent surgical attention for abdominal issues. Because of the high pain tolerance and decreased ability to vomit, they may present late with symptoms of cholecystitis, appendicitis, or acute gastric dilation with risk for progression to necrosis.[21, 22]
  • Tonsillectomy, adenoidectomy, or tracheostomy placement may be required in patients with obstructive sleep apnea.
  • Biliopancreatic diversion and gastric bypass surgery have been ineffective for long-term weight reduction.[47, 48] Significant disruption in the enterohepatic circulation of bile acids may result in deficiencies of fat-soluble vitamins and steatorrhea with anal pruritus due to bile acids. Anal pruritus may exacerbate rectal-picking compulsions. Deficiencies of fat-soluble vitamins may exacerbate the following:
    • Osteoporosis (vitamin D)
    • Hypochromic anemia (vitamin E)
    • Hyporeflexia (vitamin E)
    • Spinocerebellar ataxia (vitamin E)
    • Coagulopathy (vitamin K)
    • Night blindness (vitamin A)
    • Enhanced susceptibility to infections (vitamin A)
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Consultations

Patients with Prader-Willi syndrome may require the support of the following specialists:[42]

  • Geneticist for initial diagnosis and counseling
  • Developmental pediatrician for stimulation programs
  • Endocrinologist for management of hypogonadism
  • Nutritionist for dietary counseling
  • Ophthalmologist for management of strabismus
  • Pulmonologist for management of sleep apnea
  • Psychiatrist, psychologist, or both for management of behavioral issues
  • Gastroenterologist for GI issues
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Diet

Patients with Prader-Willi syndrome have hyperphagia (onset in children aged 1-6 y) and diminished basal metabolic rate. Various treatment modalities for weight control, ranging from behavioral modification to anorexic agents, have been largely unsuccessful in curbing hyperphagia. However, these modalities may yield some success when used at group home settings.[42, 48]

  • Significant dietary restrictions are not implemented during early childhood to ensure optimal myelination.
  • Institution of a balanced hypocaloric diet (1000 calories with supplementation of vitamins and calcium) is generally implemented at early school age with careful monitoring by a dietitian.
  • As children with Prader-Willi syndrome become ambulatory, limitation of access to foods is essential for modulation of weight. Placement of locks on cupboards and refrigerators, use of smaller dishes, and restriction of access to food in the school environment help deter excessive weight gain.
  • In patients with morbid obesity, a protein-sparing modified fast with careful medical and nutritional supervision over several weeks may facilitate short-term weight loss.[49]
  • Based on the feeding behaviors of patients with Prader-Willi syndrome, one study assessed laboratory changes, metabolic changes, and growth changes and identified a total of 7 different nutritional phases, with 5 main phases and subphases in phases 1 (poor feeding and failure to thrive in infancy) and 2 (hyperphagia leading to obesity in later childhood). The study shows that progression of the nutritional phases is much more complex than the previously recognized 2 nutritional stages; awareness of these phases may help develop therapies and prevent or delay the early onset of obesity.[50]
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Activity

See the list below:

  • Patients with Prader-Willi syndrome have hypotonia and require supplemental occupational and physical therapy to promote acquisition of gross and fine motor skills and to strengthen spinal musculature in order to minimize scoliosis.[36]
  • Encouragement of physical activity at home, at school (eg, increased physical education periods), and in the community (eg, Special Olympics) is essential for modulation of weight.
  • Care providers should be instructed in the Heimlich maneuver.[23]
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Contributor Information and Disclosures
Author

Ann Scheimann, MD, MBA Associate Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution

Ann Scheimann, MD, MBA is a member of the following medical societies: North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: synageva<br/>Received research grant from: QOL medical, zafgen, FPWR.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Eric T Rush, MD, FAAP, FACMG Clinical Geneticist, Munroe-Meyer Institute for Genetics and Rehabilitation; Assistant Professor of Pediatrics and Internal Medicine, University of Nebraska Medical Center

Eric T Rush, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American College of Physicians, Nebraska Medical Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals<br/>Honoraria for: Alexion Pharmaceuticals and Biomarin Pharmaceuticals.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

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Severe typical scoliosis.
 
 
 
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