Prader-Willi Syndrome Treatment & Management

  • Author: Ann Scheimann, MD, MBA; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Jun 8, 2011
 

Medical Care

  • Patients with Prader-Willi syndrome (PWS) frequently require medical care for the following:[36]
    • 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.[41, 42]
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Surgical Care

  • 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.[43, 44] 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:[40]

  • 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.[40, 44]

  • 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.[45]
  • 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.[46]
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Activity

  • 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.[34]
  • 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 and Nutrition

Disclosure: Nothing to disclose.

Specialty Editor Board

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: American Society for Biochemistry and Molecular Biology and Radiation Research Society

Disclosure: Nothing to disclose.

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.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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Severe typical scoliosis.
 
 
 
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