Self-Injury and Präder–Willi Syndrome

Prader–Willi syndrome (PWS) is predominantly a genetic disorder resulting from the absence of normally active paternally expressed genes from the 15q11–q13 chromosome region. The principal characteristics are developmental psychomotor delay, generalized hypotonia, intellectual delay, behavioral and emotional problems, hyperphagia, and consequent obesity. There are frequent problems in the emotional affective sphere, with significant emotional instability, irascibility, scarce tolerance to frustrations, rigidity of thoughts, repetitive behaviors, and self-injury. This study evaluated self-injurious behaviors (SIBs) prevalent among persons with PWS, by their localization in relation to different degrees of intellectual disability, and their evolution in time by using a specially designed interview questionnaire with families and providers. The subjects were drawn from referrals to the Diagnostic and Rehabilitation Departments of the OASI Institute, Troina, Italy and consisted of the 15 known persons with PWS (7 males; 8 females) residing in Sicily (Italy). SIBs were found in 73% of the subjects, and the body areas most affected were hands, arms, and legs. The most frequent SIB observed was skin-picking (64%). Our data substantially agree with what has been reported in the literature, although we found slightly lower rates of SIBs in the Sicilian sample.