Prader-Willi Syndrome Follow-up
- Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD more...
Further Outpatient Care
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- Further outpatient care is targeted toward management of hypogonadism, obesity, and behavioral issues.
Further Inpatient Care
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- 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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- 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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- 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.
- Evaluate males with Prader-Willi syndrome and cryptorchidism for gonadotropin-releasing hormone (GnRH) and orchiopexy.
- 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.
- Routinely screen children for scoliosis.[36, 42]
- Regularly screen patients with obesity for evidence of type 2 diabetes mellitus.
- Screen for thyroid and adrenal function when indicated.
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- 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, testicular neoplasias, multiple endocrine neoplasia [MEN1], neoplasias, hematologic neoplasias [leukemia] ): 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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- 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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