Abstract

In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS) and autism spectrum disorder (ASD). The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description of the behaviour phenotype, that is, which types and natural history of self-injurious behaviour are more common in PWS and ASD and which are shared with other forms of developmental disability. Self-injury displayed by individuals with PWS and individuals with ASD was compared with that reported in a group of individuals with intellectual disability due to mixed aetiology (ID group). Three self-injurious behaviours (head banging, skin-picking and hitting and/or biting self) were measured on five occasions over 18 years using the Developmental Behaviour Checklist (DBC) a well-validated caregiver report measure. Rates of skin picking were higher in individuals with PWS and hitting and/or biting self was higher in individuals with ASD compared to the ID group. Rates of head banging were similar across the three groups. Over time, skin-picking and head banging increased with age for individuals with ASD and hitting and/or biting self increased for the PWS group. In the PWS and mixed ID groups head banging decreased with age. These findings suggest that the typology and developmental trajectories of self-injurious behaviours differ between those with PWS and ASD.

Highlights

  • Prader Willi syndrome (PWS) is caused by the failure of the imprinted genes in the paternally derived PWS segment of chromosome 15 q11–q13 [1,2]

  • The authors noted that rates of self-injury are high in both disorders, there has not been a study that has directly compared the nature of self injury in PWS and autism spectrum disorder (ASD)

  • In line with our first hypothesis, we found that hitting and/or biting self was more common in ASD and skin-picking more common in PWS than in the mixed ID group; rates of head banging were similar across the three groups

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Summary

Introduction

Prader Willi syndrome (PWS) is caused by the failure of the imprinted genes in the paternally derived PWS segment of chromosome 15 q11–q13 [1,2]. Cytogenetic abnormalities within this region have been found in a small percentage of individuals with autism spectrum disorder (ASD) [3]. This has led to some interest in exploring whether PWS and ASD share phenotypic similarities. Cross-sectional studies have shown that skin-picking increases from early childhood to adolescence [8,9] and is present throughout adulthood [10]

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