Behavioural profile of Wolf- Hirschhorn syndrome Preliminary findings

1. Behavioural profile of Wolf-Hirschhorn syndromePreliminary findings Peter McGill and Paul Langthorne P.McGill@kent.ac.uk

2. Behavioural phenotype • The term behavioural phenotype refers to social, linguistic, motor, cognitive and behavioural features characteristic of certain genetic syndromes (Dykens, 1995). • Despite having a similar incidence to other genetic causes of intellectual disability (e.g., Smith-Magenis syndrome) we still know comparatively little about the behavioural phenotype of WHS. • Important to know this information to determine what input people with WHS and their families need.

3. Existing evidence on behavioural phenotype of WHS… • Fisch et al (2008) study involving 12 children with WHS. • Reported considerable variability in IQ scores for children with WHS (mild-severe). • Reported that females with WHS had higher adaptive behaviour scores than males. • Adaptive behaviour profiles suggested relative strength in socialisation skills in comparison to other domains • Over 50% of the children with WHS were observed to have attention-deficits and hyperactivity (ADHD) • But…study had low numbers and only included children who were verbal

4. Current study… • Aim to describe the behavioural phenotype in people with WHS and compare this to other groups • Currently have 40 participants identified (18 of whom have been interviewed) • Mean age of total sample = 16 years, 9 mths (range = 2yrs, 1 mth – 30yrs, 5 mth) • Gender: 21 male and 19 female. • Using telephone interviews aim to determine: 1) Adaptive behaviours in WHS 2) Both the form and function of challenging behaviours in WHS 3) Also aim to examine family satisfaction with support received from local services.

5. Preliminary findings… • Challenging behaviour Aberrant Behavior Checklist

6. So? • People with WHS score lower than other groups on all subscales • Despite the fact that WHS is associated with lots of ‘risk markers’ for challenging behaviour • No gender differences found • Should be noted that a significant minority of participants were reported as displaying CB (i.e., 12/40 people with WHS scored above 10 on the irritability subscale of the ABC and 11/18 people interviewed were reported to display SIB) • Levels of CB (as measured by Aberrant Behaviour Checklist) in WHS is positively correlated with scores on Social Communication Questionnaire. r= .6; p<.05 • So…children with lower social communication abilities are more likely to display CB. Could it be that social communication acts as a protective factor against CB in children with WHS? • 14/18 (77.8%) participants interviewed scored at or above ASD cut-off of 15 on SCQ.

7. Preliminary findings… • Vineland Screener

8. Preliminary findings… • Within syndrome profile similar to that found by Fisch and suggests that socialization skills in people with WHS are strong in comparison to other domains. This within group difference was significant (p<0.05)

9. Preliminary findings… • So? • People with WHS score lower across all domains of adaptive behaviour than any of the comparison groups • People with WHS appear to have relative strengths in socialization skills in comparison to other domains • No gender differences in people with WHS for adaptive behaviour

10. Preliminary findings… • Family satisfaction • Considerable variability in the experience of different families • As a whole, families reported higher satisfaction with all other forms of support (medical, communication, respite and other support) than psychology services. • None of the 18 families interviewed rated psychology input as being any better than ‘neither satisfied nor dissatisfied’. • Similar pattern of results to that reported by other groups. For example, parents of children with FXS, SMS and mixed etiology group all rated satisfaction with psychology input as lower than other areas • Overall people reported being slightly satisfied with the support they had received. This was higher than the average satisfaction with overall support reported by other groups (FXS, SMS and mixed etiology group)- which were not higher than slightly dissatisfied.

11. Finally… • Some interesting preliminary results • Found challenging behaviours in WHS may be lower than in other groups, but significant minority who display them. Some evidence to suggest CB linked to social communication skills in people with WHS. • Adaptive behaviours in WHS are lower than other groups across all domains • Social skills appear to be a relative strength for people with WHS in comparison to other domains • Family support questionnaire suggested lowest satisfaction was with psychology input but that overall families were ‘slightly satisfied’ with the support they received. • More work to do… • Still need to recruit 10 more families for the study • Need to finish interviews for the second mail out