PWS is a complex, multi-symptom condition caused by a genetic alteration. It is highly variable and symptoms depend on age.
THE CHALLENGE OF PWS
INFANTS: Fetal movement is decreased. Newborns are weak and limp, lethargic, have a weak cry, and, most importantly, have a very poor suck causing inadequate nutrition. This results in “failure to thrive” unless special feeding techniques, such as tube feeding, are employed for weeks or months. Physical development is delayed. These problems are at least partially related to growth hormone deficiency. Replacement therapy is standard at an early age in wealthier countries.
TODDLERS: Feeding improves with age. All milestones are delayed, necessitating occupational, physical and speech therapy.
CHILDREN: In early childhood, a lifelong insatiable appetite develops, if food intake is not consistently controlled. No medication is yet known to treat this hunger. Difficult behavior, including temper tantrums and extreme persistence, often begins after the appetite changes, requiring consistency and structured routines. Special education is often required. Scoliosis frequently occurs.
ADOLESCENTS: With greater independence, increased access to food can result in obesity and its medical complications, such as diabetes and cardio-pulmonary compromise. Emotional and behavioral issues become more severe, sometimes requiring medication. Pubertal development is delayed and incomplete, but secondary sex characteristics do respond to hormonal therapy.
ADULTS: Successful independent living is rarely possible largely due to behavioral issues and lack of appetite control. Some adults develop psychiatric disorders, such as psychosis, which respond to standard medications.
When our son was born in 1968, few physicians had even heard of Prader-Willi syndrome. Fortunately, a University pediatric neurologist diagnosed him at 3 months of age. The scant research and knowledge was just enough to save him from disastrous obesity and uncontrolled behaviors. His abilities and opportunities would have been severely limited without this information. Knowing what to expect and what to do saved the whole family from dysfunction as well as him. We truly know how important help is.” Joan Gardner, Friends of IPWSO President