What It Is
Prader-Willi syndrome (PWS) is a genetic disorder caused by an alteration of chromosome 15. It affects males and females equally, occurring in roughly one in ten thousand births, though the true incidence is likely higher because the condition remains poorly understood.
Clinical Features
The full clinical picture does not appear at birth; many of the hallmark signs emerge later.
In newborns, characteristic features include muscle weakness and feeding difficulties. Developmental delays are common.
Muscle weakness typically improves by eight to twelve months of age. But from ages two or three onward, an uncontrolled increase in appetite appears, coupled with a reduced sense of fullness. This drives patients to seek food wherever they can find it, stealing when necessary. Within a few years, severe obesity sets in—resistant to diet and medication alike—and brings early complications affecting the heart, lungs, and metabolism.
Puberty in both sexes is usually absent or significantly delayed, and intellectual disability occurs to varying degrees, though usually mild.
Over time, behavioral and emotional disturbances become more pronounced. Yet many of these patients are remarkably affectionate and friendly.
Treatment
Intervention is possible through appropriate preventive measures, dietary education, and rehabilitation.
The Italian Association for the Support of Individuals with Prader-Willi Syndrome and Their Families works toward these goals:
- Raise awareness of the syndrome.
- Keep families informed of medical advances, new diagnostic tests and therapies, maintaining contact with doctors specializing in the syndrome.
- Win recognition of the syndrome as a polymalformative disease from the Ministry of Health.
- Inform local authorities about the needs of PWS individuals in school, family life, and leisure settings.
- Push the health system to train specialized teams to care for Prader-Willi patients.
- Establish group homes or communities dedicated solely to PWS, since experience in other countries shows that managing these patients in facilities serving multiple conditions is difficult.
More information on Prader-Willi syndrome Italian Prader-Willi Federation