Katy Berg

The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes.

BACKGROUND Self-injurious and aggressive behaviours are reported as components of some behavioural phenotypes but there are few studies comparing across syndrome groups. In this study we examined the prevalence of these behaviours and the associated person characteristics in seven genetic syndromes. METHODS Questionnaire data on self-injury and aggression, mood, hyperactivity, autism spectrum disorder and repetitive behaviour were collected on Angelman (AS, n=104), Cornelia de Lange (CdLS, 101), Cri du Chat (CdCS, 58), Fragile X (FXS, 191), Lowe (LS, 56), Prader-Willi (PWS, 189) and Smith-Magenis (SMS, 42) syndromes. RESULTS A significantly higher prevalence of self-injury was evident in CdCS, CdLS, FXS, PWS, LS and SMS. The prevalence of aggression was significantly heightened in AS and SMS. Self-injury was associated with repetitive and impulsive behaviour in CdLS, FXS, PWS and LS. Impulsivity and overactivity were significantly higher in those showing aggression across all syndrome groups. CONCLUSIONS These data quantify the risk for self-injury and aggression in the syndromes studied with implications for early intervention. The associations between these behaviours and person characteristics both within and between syndromes warrant further research.

Prevalence of Autism Spectrum Phenomenology in Cornelia de Lange and Cri du Chat Syndromes

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively). Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the autism cut-off on the Autism Diagnostic Observation Schedule compared to 9 with Cri du Chat syndrome (39.2%). Prevalence of autism spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. The profile of characteristics is atypical to that of idiopathic autism.

The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability.

BACKGROUND There is a need for assessments of psychological difference and disorder in people who have more severe intellectual disability (ID). Hyperactivity and impulsivity are two behavioural domains of importance as they are correlated with self-injury and aggression and this alludes to a shared cognitive correlate of compromised behavioural inhibition. Additionally, compromised behavioural inhibition is demonstrably related to repetitive behaviour and the latter might be expected to be associated with impulsivity and hyperactivity. METHODS The Activity Questionnaire (TAQ) was developed for this study. Three sub-scales with high levels of face validity were supported by factor analysis of the scoring of 755 intellectually disabled participants on the TAQ items. These sub-scales mapped onto the constructs of Overactivity, Impulsivity and Impulsive Speech. Test-retest, inter-rater reliability and internal consistency were robust. TAQ scores and scores on the Repetitive Behaviour Questionnaire (RBQ) were collected for a sample of 136 participants with varying degrees of ID. RESULTS Scores on the TAQ at sub-scale and full-scale level were not related to level of adaptive functioning. There were significant positive associations between overactivity (TAQ) and stereotyped behaviour (RBQ), impulsivity (TAQ) and restricted preferences (RBQ), and impulsive speech (TAQ) and repetitive speech (RBQ). CONCLUSIONS The TAQ is a reliable assessment of hyperactivity and impulsivity for people with ID with robust factor structure. Validity requires evaluation. The relationship between impulsivity and restricted preferences may result from a common cognitive impairment in inhibition, which may underpin these two classes of behaviour.

Effects of Adult Familiarity on Social Behaviours in Angelman Syndrome.

BACKGROUND Individuals with Angelman syndrome appear strongly motivated by social contact, but there have been few studies that have examined the relationship between sociability and familiarity. In this study we compared social behaviour in Angelman syndrome when in contact with mothers and strangers. METHODS We systematically manipulated adult familiarity, eye contact and speech to examine the effect on social approach behaviours in children with Angelman syndrome. Eleven children (deletion 15q11-13) participated and were observed during interactions with their mother and an unfamiliar adult, while adult eye contact and talking were manipulated. Laughing and smiling, looking and social approach were observed. RESULTS There was no effect of familiarity on laughing and smiling or eye contact. Participants showed more social approach towards their mother than the unfamiliar adult but only when their mother was looking at them. CONCLUSIONS In Angelman syndrome, looking at adults, laughing and smiling appear to be unaffected by the familiarity of the adult. However, approach behaviours are more common with mothers than strangers. The function of the approach behaviours might be to increase investment from the primary caregiver.

Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes.

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader–Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader–Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.