Self-injurious behaviour in Cornelia de Lange syndrome: I. Prevalence and phenomenology

School of Psychology, University of Birmingham, Birmingham, UK.
Journal of Intellectual Disability Research (Impact Factor: 2.41). 08/2009; 53(7):575-89. DOI: 10.1111/j.1365-2788.2009.01179.x
Source: PubMed


Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS.
A total of 54 participants with CdLS were compared with 46 individuals who were comparable on key variables including age, degree of intellectual disability and wheelchair use, using questionnaire and observational measures.
Clinically significant self-injury was not more prevalent in the CdLS group (55.6%), nor was it different in presentation from that seen in the comparison group. Hyperactivity, stereotyped and compulsive behaviours predicted clinically significant self-injury in all participants. Hand directed, mild self-injury was more prevalent in CdLS.
The results show that clinically significant self-injury may not be part of the behavioural phenotype of CdLS but a specific body target for proto-SIB is more common.

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    • "However, there was no significant relationship between the presence of SIB and the lethargy domain, which refers to social withdrawal. These findings support previous studies that associated overactivity, impulsivity and self-injury (Cooper et al. 2009; Oliver et al. 2009). To explain this association, authors suggested that some cases of SIB may be exacerbated by motor impulse control difficulties and impaired inhibition (Richards et al. 2012; Richman et al. 2013). "
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    ABSTRACT: Self-injurious behaviours (SIB) are highly prevalent in individuals with autism spectrum disorders (ASD) and have deleterious effects on the individual and their environment. The aim of this study was to examine SIB prevalence and associated features in a population of 152 adolescents with ASD and to determine risk factors for SIB. The present study uses a subset of data of a longitudinal follow-up of 152 children with ASD. The presence of a low or high level of self-injury was assessed at adolescence through the Aberrant Behaviour Checklist completed by parents. Clinical and social variables regarding severity of autism symptoms, psychological development, adaptive behaviours, parental quality of life and total intervention time were collected during childhood (mean age = 5 years, SD = 1.6) and at adolescence (mean age = 15 years, SD = 1.3). About 35.8% of adolescents with ASD in our sample displayed self-injury, which was frequently associated with other challenging behaviours and was related to severity of autism symptoms, adaptive skills, intellectual functioning and language level (P < 0.001). The main risk factor for SIB at adolescence was severity of autism symptoms (P = 0.04). Cognitive development during childhood was found to be a protective factor (P = 0.03) whereas at adolescence, the main protective factor was communicative abilities (P = 0.04). These data showed that SIB remained highly prevalent at adolescence and yielded risk and protective factors for developing SIB at this period of life. Limitations and perspectives for future research are discussed. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.
    Journal of Intellectual Disability Research 01/2015; 59(8). DOI:10.1111/jir.12177 · 2.41 Impact Factor
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    • "As has been shown repeatedly in the past (González et al. 2009; Rojahn et al. 2012b), SIB is the subscale with the relatively lowest internal consistency (even when controlled for item numbers), which reflects the fact that SIB as a psychometric construct if not as a clinical disorder is less coherent than stereotyped behavior and aggression/destruction. Compared with prevalence data for behavior problems in CdLS from the Oliver workgroup in the UK (Arron et al. 2011; Hyman et al. 2002; Oliver et al. 2009), this study produced relatively higher rates of occurrence across the board. However, those other studies used different assessment instruments (namely the Challenging Behavior Questionnaire (Hyman et al. 2002) and the Challenging Behavior Interview (Oliver et al. 2003)). "
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    ABSTRACT: The purpose of this study was to validate the Behavior Problem Inventory-01 (BPI-01; Rojahn J Autism Dev Disord 31:577–588, 2001) in a population of 179 individuals with Cornelia de Lange Syndrome (CdLS) and to extend the literature on the behavioral phenotype of individuals with CdLS. We also set out to determine the relationship between the frequency of self-injurious behavior (SIB), stereotyped behavior, and aggressive/destructive behavior topographies with the level of intellectual disability (ID). The BPI-01 among the individuals with CdLS showed a sufficient factor structure and internal consistency of each of the three assessed construct (SIB, stereotyped behavior, and aggressive/destructive behaviors). Similar to the findings in other populations with intellectual disabilities, those with severe/profound intellectual impairment exhibited significantly more frequent SIB and stereotypic behavior than those with moderate or mild intellectual impairment or average intellectual abilities while no statistically a differences were noted for aggressive behavior across levels of intellectual impairment. There is a need for uniformity of assessment tools across different study to improve our ability to compare results across different prevalence studies.
    Journal of Developmental and Physical Disabilities 10/2013; 25(5). DOI:10.1007/s10882-012-9329-6 · 1.56 Impact Factor
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    • "The results revealed that individuals with ASD who engaged in selfinjury had significantly higher scores on measures of impulsivity, overactivity and impulsive speech. These findings support previous studies that associated overactivity, impulsivity and self-injury (Cooper et al., 2009; Collacott et al., 1998; Oliver et al., 2009; Schneider et al., 1996) and provide tentative evidence for a potential role for executive dysfunction in aetiological models of self-injury. The elevated levels of impulsivity and overactivity in individuals with self-injury found in this study may constitute behavioural indicators of impaired inhibition. "
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    ABSTRACT: Autism spectrum disorder (ASD) has been identified as a risk marker for self-injurious behaviour. In this study we aimed to describe the prevalence, topography and correlates of self-injury in individuals with ASD in contrast to individuals with Fragile X and Down syndromes and examine person characteristics associated with self-injury across and within these groups. Carers of individuals with ASD (n = 149; mean age = 9.98, SD = 4.86), Fragile X syndrome (n = 123; mean age = 15.32, SD = 8.74) and Down syndrome (n = 49; mean age = 15.84, SD = 12.59) completed questionnaires relating to the presence and topography of self-injury. Information was also gathered regarding demographic characteristics, affect, autistic behaviour, hyperactivity, impulsivity and repetitive behaviour. Self-injurious behaviour was displayed by 50% of the ASD sample: a significantly higher prevalence than in the Down syndrome group (18.4%) but broadly similar to the prevalence in Fragile X syndrome (54.5%). Self-injury was associated with significantly higher levels of autistic behaviour within the Down and Fragile X syndrome groups. Within the ASD group, the presence of self-injury was associated with significantly higher levels of impulsivity and hyperactivity, negative affect and significantly lower levels of ability and speech. Self-injurious behaviour is prevalent in individuals with ASD and the presence of ASD phenomenology increases the risk of self-injury in individuals with known genetic disorders but without a diagnosis of idiopathic autism. Person characteristics associated with self-injury in ASD indicate a role for impaired behavioural inhibition, low levels of ability and negative affect in the development of self-injurious behaviour.
    Journal of Intellectual Disability Research 03/2012; 56(5):476-89. DOI:10.1111/j.1365-2788.2012.01537.x · 2.41 Impact Factor
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May 29, 2014