Prader-Willi Syndrome Follow-up

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

Further Inpatient Care

  • Patients with Prader-Willi syndrome (PWS) may require inpatient evaluation and treatment for hypotonia and poor feeding during infancy.
  • Individuals with Prader-Willi syndrome and other medical issues, including scoliosis and complications of obesity or pickwickian syndrome, may require inpatient therapy.
  • Patients with severe behavioral problems may merit admission to a facility staffed with individuals with long-term experience with Prader-Willi syndrome.
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Further Outpatient Care

  • Further outpatient care is targeted toward management of hypogonadism, obesity, and behavioral issues.
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Transfer

  • Patients with Prader-Willi syndrome and significant behavioral issues recalcitrant to traditional therapies may benefit from transfer to a center, such as the Children's Institute in Pittsburgh, staffed with individuals with experience in treatment of people with Prader-Willi syndrome.
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Deterrence/Prevention

  • Patients with Prader-Willi syndrome have hyperphagia and require restricted access to foods to minimize weight gain. Binge-eating episodes may predispose patients to development of food poisoning and acute gastric dilation. Caregivers of patients with Prader-Willi syndrome should be instructed in the Heimlich maneuver.[23]
  • Evaluate males with Prader-Willi syndrome and cryptorchidism for gonadotropin-releasing hormone (GnRH) and orchiopexy.[27]
  • Routinely monitor for symptoms of sleep apnea. Obtain a sleep study within the few months after initiation of growth hormone therapy at the first sign of symptoms.[41]
  • Routinely screen children for scoliosis.[34, 40]
  • Regularly screen patients with obesity for evidence of type 2 diabetes mellitus.[27]
  • Screen for thyroid and adrenal function when indicated.[40]
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Complications

  • Patients with Prader-Willi syndrome can develop complications from the following:
    • Hypogonadism (osteoporosis/pathologic fractures)
    • Obesity due to hyperphagia and hypometabolism (secondary to hypopituitarism): This predisposes patients to premature death from cardiorespiratory failure.
    • Slipped capital femoral epiphyses/hip dysplasia
    • Sleep apnea: Patients with Prader-Willi syndrome have a primary disturbance in central control of the respiratory drive with diminished responsiveness to hypercapnia during quiet sleep.
    • Cor pulmonale
    • Type 2 diabetes mellitus
    • Neoplasias (eg, Wilms tumors,[47] testicular neoplasias,[48] multiple endocrine neoplasia [MEN1],[49] neoplasias, hematologic neoplasias [leukemia][50] ): Various neoplasias have been rarely reported in patients with Prader-Willi syndrome.
    • Binge-eating episodes: These episodes may predispose patients to choking episodes (which require the Heimlich maneuver), acute gastric dilation with risk of gastric necrosis, and food poisoning from consumption of contaminated food.[21, 23]
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Prognosis

  • Patients with Prader-Willi syndrome frequently reach adulthood and are able to function in a group home setting, performing vocational work or attending community college classes.
  • Diminished sensitivity to pain and diminished capacity to vomit may delay the diagnosis of underlying disease (eg, appendicitis).
  • Complications from hypogonadism (eg, osteoporosis/pathologic fracture), behavioral issues (eg, temper tantrums, stubbornness, psychoses), and morbid obesity (eg, type 2 diabetes mellitus, cor pulmonale) may shorten life expectancy and may affect the quality of life.
  • Patients with Prader-Willi syndrome can be mainstreamed into the classroom environment. They require additional speech therapy to enhance verbal skills and should have additional physical activity periods in place of rest periods. These individuals require a structured environment and may need a smaller classroom size for individual attention.
  • Older children with Prader-Willi syndrome may enter vocational programs (with avoidance of food preparation). Some adults have attended community colleges.
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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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