Prader–Willi syndrome (PWS)

The clinical picture of a patient with PWS changes over the course of the person's life; already in the fetal period a reduction in fetal movements can occur, secondary to a muscular hypotonia that will characterize the neonatal period and early childhood, determining, among others, a difficulty in sucking with initial poor growth and the delayed acquisition of the main stages of psychomotor development. Usually between the second and fourth year of life there is, alongside the improvement of hypotonia, the appearance of worsening hyperphagia, secondary to an absent sense of satiety, which leads to a rapid weight gain. In a few years, in the absence of adequate treatment, a high degree of obesity is established. In later ages, the most serious complications of excess weight occur, mainly of a cardiorespiratory, metabolic and osteoarticular nature, including obstructive sleep apneas, aggravated by the concomitant presence of central apneas, and type 2 diabetes mellitus.