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Journal of Policy and Practice in Intellectual Disabilities Volume 2 Number 3/4 pp 256–259 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 Präder–Willi 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: [email protected]

Brief Research ReportSelf-Injury and Präder–Willi SyndromeStephano Buono, Maria Palmigiano, Fabio Scannella, Paola Occhipinti, and Donatella GrecoI.R.C.C.S. Oasi Maria SS, Troina, Italy

Abstract Präder–Willi syndrome (PWS) is predominantly a genetic disorder resulting from the absence of normally active paternallyexpressed 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 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, Präder–Willi syndrome, self-injury

INTRODUCTION

Präder–Willi syndrome (PWS) is a genetic disorder thatresults from the absence of normally active paternally expressedgenes from the 15q11–q13 chromosome region (Butler, 1990;Nicholls & Knepper, 2001). A number of genes located in the15q11–q13 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 15q11–q13; 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 5–10% 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 one’sbody (e.g., Tate & Baroff, 1966). The DSM-IV-TR (AmericanPsychiatric Association, 2000) classifies self-injury within the“stereotypical movement disorders” that are part of the class of“disorders 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-

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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.

METHODOLOGY

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-testing, the surveywas used to collect data through interviews with families andproviders.

The subjects for the study were selected from a referral pop-ulation at the diagnostic and rehabilitation departments of theOASI Institute, a center for assessing and treating ID located inTroina, Italy. The subjects, residing on the island of Sicily, con-sisted of 15 persons (7 males; 8 females) diagnosed with PWS.Their chronological ages ranged from 1 to 29 years (meanage = 14 years). The study subjects were categorized into two agegroups: 1–12 years (n = 7) and 13 years and older (n = 8). Theirdegrees of ID were mild (67%), moderate (13%), and NOS (nototherwise specified) (33%), according to the DSM-IV-TR (2000)criteria. Informed consent was obtained for each person includedin this study, and the survey was conducted in agreement withthe ethical guidelines of the OASI ethics committee.

RESULTS

SIBs were found to be present in 11 (73%) of the subjectswith PWS. As indicated in Table 1, all presented with an ID.

TABLE 1Relation between ID and SIBs

ID level

SIB

TOTYes No

Mild 8 2 10Moderate 2 0 2Total 10 2 12

Chi-square = 0.12; d.f. = 1; P = 0.73.ID = intellectual disability; SIB = self-injurious behavior.



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Eight (80%) of the persons with mild ID, two (100%) of thepersons with moderate ID, and one (50%) of the persons withNOS ID presented with some form of self-injurious behavior.Because of the small sample size, only mild and moderate levelsof ID were taken into account in conducting statistical tests – seeTable 1 for the contingency and significance results (P > 0.05).Table 2 shows that SIBs were present in 45% (n = 5) of the casesincluded in the age group of 6–12 years (none were present insubjects aged 1–5 years) and in 55% (n = 6) of the cases includedin the age range of 13 years and older. Differences between agelevels were not significant. As far as the age onset of SIB wasconcerned, onset occurred prior to age 6 years in 91% of thesubjects, while it occurred between ages 7 and 12 years in theremaining 9%.

With respect to the localization of the body areas involved, itwas found that the most involved areas were: hands (82%), arms(73%), legs (64%), and face and head (36%). The most frequenttype of SIB observed was skin-picking (64%), followed by nailtearing and scratching (18%). With regard to the frequency ofoccurrence, the sample showed the following distribution: rare(0%); sporadic (22%); frequent (46%); continuous (32%). Look-ing into the intensity of the SIBs (defined as seriousness of thedamage produced to one’s body), we found the following: low(0%); medium (9%); high (91%).

When we examined the trigger events, we found that all of thesubjects manifested an SIB when small cuts or insect bitesoccurred. Apparent idiopathic occurrences (when the person wasinactive or absent any trigger) were evident in 30%, while 20%manifested it in response to a stressful situation. The degree ofsupport requested by the families and providers to manage theoccurrence of an SIB was distributed as follows: never, intermit-tent, and limited (0%); frequent (30%); continuous (70%)(Tables 3 and 4).

To test the significance of the relation between emission fre-quency and levels of ID and age, two separate contingency tableswere constructed. No statistically significant relationships wereobserved, and it was concluded that the rates of SIBs in oursubjects with PWS seemed to be independent from such variablesas age, ID levels, and emission frequency.

DISCUSSION

Our study offers data that are substantially in agreement withwhat has been reported in the literature, although our Siciliansubjects with PWS showed slightly lower rates of occurrence ofSIBs. The predominant body areas (head, arms, and legs) weresimilar to those noted by other researchers. We found that themost frequent behaviors (skin-picking, nail tearing, and scratch-ing) were consistent with other reports. In our subjects, SIBs wereexhibited with a high daily or weekly frequency and, in mostcases, they required continuous intervention (i.e., by blocking,tutoring, etc.) by carers in order to interrupt or reduce the emis-sion rate of the SIB. Our findings seem strictly correlated with thehigh intensity of SIBs and with the relative damage that theyproduce. We are continuing our work in this area and are con-ducting periodic follow-ups aimed at assessing the evolution ofthe SIBs and the eventual variation in their expression and local-ization. The conclusions of our study are limited by the smallsample size, but we need to underline that this sample consists ofalmost all the persons diagnosed with PWS in the Sicilian popu-lation. We have begun to extend the validity of our research bycomparing the data that we have collected relative to our subjectswith PWS with data available for other genetic syndromes asso-ciated with ID and which produce SIBs.

ACKNOWLEDGMENTS

The study was funded as part of a research project grantreceived from the Italian Ministry of Health.

TABLE 2Relation between CA and SIBs

CA

SIB

TOTYes No

0–12 5 2 712–18+ 6 2 8Total 11 4 15

Chi-square = 0.18; d.f. = 1; P = 0.67.CA = chronological age; SIB = self-injurious behavior.

TABLE 3Relation between level of ID and emission frequencies

ID level Rare/sporadic Frequent/continuous TOT

Mild 1 7 8Moderate 1 1 2Total 2 8 10

Chi-square = 0.04; d.f. = 1; P = 0.84.ID = intellectual disability.

TABLE 4Relation between chronological and emission frequencies

CA Rare/sporadic Frequent/continuous TOT

0–12 1 3 412–18+ 1 5 6Total 2 8 10

Chi-square = 0.23; d.f. = 1; P = 0.63.CA = chronological age.



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