Journal of Policy and Practice in Intellectual Disabilities Volume 2 Number 3/4 pp 256259 September/December 2005
2005 International Association for the Scientific Study of Intellectual Disabilities and Blackwell Publishing, Inc.
Blackwell Science, LtdOxford, UKPPIPolicy and Practice in Intellectual Disabilities1741-11222005 International Association for the Scientific Study of Intellectual Disabilities and Blackwell Publishing Ltd?? 200523/4256259Original ArticleSelf-Injury and PrderWilli SyndromeS. Buono et al.
Received July 13, 2005; accepted September 1, 2005Correspondence: Stephano Buono, I.R.C.C.S Oasi Maria SS. Via Conte Ruggero, 73, 94018 Troina, Italia. Tel: 0935/936111; Fax: 0935/653327; E-mail: firstname.lastname@example.org
Brief Research ReportSelf-Injury and PrderWilli SyndromeStephano Buono, Maria Palmigiano, Fabio Scannella, Paola Occhipinti, and Donatella GrecoI.R.C.C.S. Oasi Maria SS, Troina, Italy
Abstract PrderWilli syndrome (PWS) is predominantly a genetic disorder resulting from the absence of normally active paternallyexpressed genes from the 15q11q13 chromosome region. The principal characteristics are developmental psychomotor delay,generalized hypotonia, intellectual delay, behavioral and emotional problems, hyperphagia, and consequent obesity. There arefrequent 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 amongpersons with PWS, by their localization in relation to different degrees of intellectual disability, and their evolution in time by usinga specially designed interview questionnaire with families and providers. The subjects were drawn from referrals to the Diagnosticand Rehabilitation Departments of the OASI Institute, Troina, Italy and consisted of the 15 known persons with PWS (7 males; 8females) residing in Sicily (Italy). SIBs were found in 73% of the subjects, and the body areas most affected were hands, arms, andlegs. The most frequent SIB observed was skin-picking (64%). Our data substantially agree with what has been reported in theliterature, although we found slightly lower rates of SIBs in the Sicilian sample.
Keywords: body localization, intellectual disability, PrderWilli syndrome, self-injury
PrderWilli syndrome (PWS) is a genetic disorder thatresults from the absence of normally active paternally expressedgenes from the 15q11q13 chromosome region (Butler, 1990;Nicholls & Knepper, 2001). A number of genes located in the15q11q13 region have been shown to be imprinted. Only onemember of the chromosome pair is active. The expression isdependent on the parent origin of chromosome 15 (Butler, 1990;Butler & Thompson, 2000; Cassidy, 1997). The majority of indi-viduals, about 70%, have paternally derived interstitial deletionof 15q11q13; about 25% have maternal disomy 15 (uniparentaldisomy (UPD)), while the remaining 2% to 5% of individualshave imprinting defects (Butler & Thompson, 2000; Nicholls &Knepper, 2001). PWS is the most common genetic syndromeassociated with obesity and has an estimated prevalence from 1to 10,000 or 15,000.
The phenotypic characteristics in the neonatal period includehypotonia and feeding difficulties with growth problems. This isfollowed by early onset hyperphagia, leading to obesity, andhypogonadism (associated with genital hypoplasia and pubertalinsufficiency); characteristic facial traits are present in most per-sons (Butler & Thompson, 2000; Gunay-Aygun, Cassidy, &
Nicholls, 1997; Nicholls & Knepper, 2001). Individuals with PWSgenerally show global developmental delay, a mild intellectualdisability (ID) or borderline intelligence, and a characteristicbehavioral profile. Frequent behaviors include temper tantrums,stubbornness, manipulative features and controlling behavior,emotional dysregulation, mood alterations, anxiety, obsessive-compulsive features, difficulties with change in routine, and self-injurious behaviors (SIBs) (Dykens, Leckman, & Cassidy, 1996;Symons, Butler, Sander, Feurer, & Thompson, 1999). In approx-imately 510% of adults with PWS, there is evidence of psychoticdisorder, which generally has an onset in adolescence; however,this never seems to occur in persons with paternal deletion andis exclusively associated with maternal UPD or imprinting abnor-malities (IM) (Gunay-Aygun et al., 1997; Vogels et al., 2004).
Studies of self-injury in syndromes associated with ID lead,above all, to a reflection regarding terminology that is clearer andwhich can improve diagnostic criteria sharing as well as opera-tional aspects. The different ways of describing this phenomenoncontribute to the observations of different frequencies, asreported in the literature (Buono, Palmigiano, & Scannella,2004). Behavioral researchers often define SIBs as behavior thatimmediately, or cumulatively, produces physical damage to onesbody (e.g., Tate & Baroff, 1966). The DSM-IV-TR (AmericanPsychiatric Association, 2000) classifies self-injury within thestereotypical movement disorders that are part of the class ofdisorders usually diagnosed for the first time in infancy andchildhood. These stereotyped movement disorders are charac-terized by motor behaviors that are repetitive and often appar-
Journal of Policy and Practice in Intellectual Disabilities Volume 2 Number 3/4 September/December 2005
S. Buono et al. Self-Injury and PrderWilli Syndrome
ently intentional and not finalized. When such behaviorconsiderably interferes with normal activities and causes majorbodily lesions requiring medical treatment (or can lead to lesionsif the protective measures are not used), the specification withself injurious behavior, is added to the principal diagnosis. Forsuch a diagnosis, this behavior should have persisted for at leastfour weeks. An association has been reported with ID, especiallyin its more serious forms (DSM-IV-TR, 2000). As far as differen-tial diagnosis is concerned, the DSM-IV-TR reports that stereo-typed or self-injurious behavior is diagnosed only when itproduces effects that require specific medical treatment.
The ICD-10 manual classifies self-injury among the stereo-typed movement disorders that are found in the class of otherbehavioral and emotional disorders with onset in childhood andadolescence. These consist of nonfunctional, repetitive, stereo-typed voluntary movements, which do not belong to any specif-ically identified psychiatric or neurological disorder. Thestereotyped behaviors are subdivided as either self-injurious ornot-self-injurious. The former include repetitive head banging,slapping, eye striking, hand and lip biting, and biting of otherbodily areas (ICD-10; World Health Organization, 1992).
The reference to the term self-injury is found with differentemphases; for example, a number of authors agree on some ele-ments that characterize SIBs, while others have underlined theirspecific aspects, such as the effects or modalities that vary or thatremain stable in time, as well as their topography, frequency, andintensity. Among those who have focused their attention moreon the effects of SIBs are Schroeder et al. (1980), for whom suchbehaviors are self-directed acts that provoke, or that can poten-tially provoke, bodily tissue damage. A number of authors (e.g.,Baumeister & Rollings, 1976; Favell et al., 1982; Griffin, Williams,Stark, Altmeyer, & Mason, 1984; Hollis & Meyer, 1983; Hyman,Fisher, Mercugliano, & Cataldo, 1990; Koegel & Koegel, 1989;Rojahn et al., 2001; Singh, 1981) have noted that self-injury con-sists of repetitive or chronic behaviors (such as head banging,arm biting, eye gouging) that cause self-inflicted bodily tissuedamage.
Prevalence studies suggest a rate of SIBs raging from 2% to50% (Aman, Werry, Paxton, & Turbutt, 1987; Bruininks, Olson,Larson, & Lakin, 1994; Symons et al., 1999). Some have indicatedthat about half of persons with ID manifest at least one type ofSIB (Buono et al., 2004). The most frequent types of SIBs are headbanging (59.8%), biting (52.6%), head hitting (48.5%), bodyhitting (24.7%), scratching (23.7%), and pica (13.4%) (Hymanet al., 1990; Rojahn et al., 2001; Symons et al., 1999). The major-ity of SIB sites are located on the forehead and specific areas ofthe back of the hands (Symons et al., 1999). Among persons withPWS, SIBs have been reported to be a prevalent behavioral prob-lem. Witman and Accardo (1987) reported that 69% of a sampleof adolescents with PWS exhibited SIBs, and Thorton andDawson (1990) reported the same observation in 81% of a sampleof adults with PWS. Symons et al. (1999) found that of 62 personswith PWS (mean age = 18 years, range = 3 to 44 years), SIBsoccurred in 81% of the sample, with skin picking (82%) the most
prevalent form and involved these body areas: legs (42%) andarms (39%).
To examine the nature of SIBs among a sample of personswith PWS, our research evaluated their localization, frequency,and intensity, in relation to chronological age, age of onset, dif-ferent degrees of ID, and needs for support.
A specifically designed Survey for the Evaluation of SIB wasdeveloped by the authors. The instrument is able to reveal theemission frequency of the SIB through a four-point scale thatevaluates when the SIB is exhibited, with categories of occurrenceranging from daily, weekly, monthly, or yearly. The degree ofsupport requested by the families and providers to manage theoccurrence of SIBs was assessed by using a five-point Likert scale(0 never; 1 intermittent; 2 limited; 3 frequent; 4 contin-uous). The survey was designed to be completed by psychologiststrained in its administration. Following pilot-testi