Marr, Abby (2009)
Clin.Psy.D. thesis, University of Birmingham.
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Studies of 1p36 deletion syndrome have focused on physical characteristics with limited exploration of the behavioural phenotype. When behavioural features have been reported, self-injury and aggression are noted. This study aimed to describe these behaviours and investigate aetiology. The prevalence of self-injurious and aggressive behaviour in 1p36 deletion syndrome (n=23) were compared with three matched syndrome groups; Angelman (n=21); Cri du Chat (n=23) and Cornelia de Lange (n=23) syndromes. Carers completed questionnaires regarding self-injury, physical aggression, mood, autism spectrum disorder, hyperactivity and repetitive behaviour. Experimental functional analysis was carried out with six children. Fourteen (60.9%) participants in the 1p36 deletion syndrome group showed self injury and twelve (52.2%) showed physical aggression, with self biting found to be the most common topography of self-injury. Self-injurious behaviour was associated with overactivity and stereotyped behaviour and aggression was associated with impulsivity and repetitive behaviour. Behavioural data confirmed high levels of hand mouthing and for three participants there was evidence of attention maintained function of self injury. The findings are consistent with previous research. The implications for treatment of self-injury are discussed within the context of shaping precursor behaviours to have a communicative function prior to the development of self-injurious behaviour.
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