Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as disease severity; the presence or absence of certain symptoms; an individual’s age and general health; and/or other elements. Decisions concerning the use of particular drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.
In infants, special nipples or gavage feeding may be used to ensure adequate nutrition. Gavage feeding is a procedure in which a small, thin tube is passed through the nose and mouth to the stomach to directly feed a newborn who has feeding difficulties.
In males, the treatment of hypogonadism with either testosterone or human chorionic gonadotropin may be beneficial during infancy, potentially increasing the size of the genitalia or prompting testicular descent into the scrotum when cryptorchidism is present. Although cryptorchidism may occasionally resolve spontaneously or with hormone therapy, most males may require surgical treatment.
Individuals with PWS also benefit from growth hormone (GH) therapy, which can help to increase height, improve lean body mass, mobility and respiratory function, decrease body fat and ultimately improve the quality of life. Some studies have shown that GH therapy may improve development and behavior. In June of 2000, the Food and Drug Administration (FDA) approved the use of human growth hormone for the treatment of children with genetically-confirmed PWS and evidence of growth failure. Studies have shown that the earlier GH therapy is started the more beneficial it is and that therapy can begin as early as two to three months of age. GH therapy has been shown to improve facial appearance and overall body build (body habitus). Development of standardized growth charts for PWS with and without growth hormone treatment have been generated and can be used to monitor the growth parameters at specific ages in PWS. It is recommended that affected individuals undergo a sleep study to detect and treat obstructive sleep apnea before initiating GH therapy because some reports suggest a link between premature death and GH therapy in certain individuals with PWS (e.g., those with profound hypotonia or obesity and pre-existing respiratory or cardiac problems). However, other researchers have expressed doubt as to whether GH therapy had a direct role in these cases but decisions regarding GH therapy in individuals with PWS are best made after consultation with a pediatric endocrinologist after a sleep study and assessments for adrenal gland insufficiency.
Children with PWS require early intervention to assess and treat issues with motor skills, intellectual disability, and speech and language development. Early intervention may include physical and occupational therapy, special education, and speech therapy. An individualized education plan should be created at the start of school. Behavioral therapy and, in some cases, psychoactive medications such as specific serotonin reuptake inhibitors may be beneficial to manage difficult behavior or psychosis.
Children should receive an ophthalmological exam to evaluate for eye abnormalities potentially associated with PWS such as strabismus and to assess visual acuity. Children should also be assessed for hip dysplasia and scoliosis which can occur in this patient population. Evaluation and treatment of sleep disturbance is recommended as well. Some researchers recommend that all individuals with PWS be screened for hypothyroidism (which occurs with increased incidence in PWS) and central adrenal insufficiency.
During childhood, a program consisting of a low calorie diet, regular exercise and a strict supervision of food intake and access should be formulated. Strict supervision of food intake should be based upon height, weight and body mass index (BMI). Such a program should begin before signs of obesity to help to prevent its development. Limiting the access to food may require locking cabinets and refrigerators. Some individuals may require vitamin supplementation, especially for calcium and vitamin D.
Sex hormones can be replaced at puberty as they can stimulate the development of secondary sexual characteristics and improve self-image and bone density. In males, the use of such therapy has been controversial because testosterone replacement by monthly injection may contribute to behavioral issues in males; use of a testosterone patch or gel will avert this problem. Sex hormone replacement therapy may increase the risk of stroke in females, as in the general population, and hygiene issues should also be considered. Sex education and consideration of contraception are important, particularly in females, as rarely pregnancy has occurred. Decreased flow of saliva may be improved with special toothpastes, gels, mouthwash and gum.