Among the characteristics of PWS in infants are hypotonia (weak muscles), low muscle mass, weak suck at birth. As the child develops short stature and small hands and feet, behavioral problems and hyperphagia (insatiable hunger) leading to early onset childhood obesity occur, as well as incomplete sexual development due to growth hormone and other hormone deficiencies and intellectual disability. There is elevated mortality in PWS at all ages.
Diagnosis
Diagnosis of PWS is confirmed by genetic testing. Newborns with PWS must often be treated for extended periods in the hospital before going home and may require tube feeding and other supportive care. In developed countries, where genetic testing is more readily available, patients are often diagnosed within the first month of life.
Living with PWS, the need for treatments
People with PWS can take about twice as long to reach developmental milestones, (sitting, crawling, walking, speaking) as their siblings or other children their age. This is due to hypotonia and low muscle mass.
Starting at age two, most people with PWS begin to gain excess body fat even without an increase in caloric intake and are prone to excess body fat accumulation throughout life.
Hyperphagia
Nearly all people living with PWS will reach a stage characterized by hyperphagia (insatiable hunger). For some, this occurs as early as age four, and on average about age eight and then continues into adulthood. Hyperphagia occurs because of failure of the normal appetite regulatory mechanisms in the hypothalamus, which can lead to increased appetite or food consumption, reduced satiety and a range of disruptive food related behaviors, including aggressive food seeking.
At this stage children and adults are constantly seeking and thinking about food and may:
- Become angry or frustrated if denied food or asked to stop talking about food.
- Often consume any accessible food including frozen food, pet food, and even non-food items.
- Can continue to eat until stomach ruptures.
- Steal food or money to buy food and hoard and hide food to eat later.
Without available treatments to reduce hyperphagia, the only effective intervention is to strictly control access to food. These individuals are at risk of suffering significant health and quality of life consequences, including morbid obesity and premature death without such controls in place.
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