Structure. Estimates of Prevalence 28/05/2015

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1 Structure Autism Spectrum Disorder in genetic syndromes Chris Oliver The Cerebra Centre for Neurodevelopmental Disorders School of Psychology University of Birmingham UK Estimates of prevalence Differences in profiles of domains between syndromes Differences within domains between syndromes Difference in causal pathways Other relevant and important differences Differences in developmental trajectories 1 Percentage of group scoring above cut-offs for Autism and Autism Spectrum Disorder on ASQ/SCQ Autism Spectrum Disorder Autism 75 Estimates of Prevalence 5 Samples range from 26 to ( < 5) Oliver et al. (211) JADD 1

2 Autism Screening Questionnaire % ASD % Autism Social Comm. Rep. Beh. Differences in the profiles of domains between syndromes Angelman (15q11-q13) Cri du Chat (5p ) Cornelia de Lange (5p 13.1) Fragile X (Xq27.3) Prader-Willi (15q11-q13) Lowe (Xq26.1) Smith Magenis (17p 11.2) O O O O ++ Age range 4 to 54 + indicates score higher than 1 other group, - indicates score lower than 1 other group, O indicates no difference from any other group. Oliver, C. et al. (211). JADD, 41, Gestures 2 Eye contact Sensory interests ASD Differences within domains between syndromes Mean ADOS Item Score 1 Odd/stereotyped odd/stereotyped pointing gestures overall language eye contact range of facial expression spontaneous initiation of joint attention quality of social overtures response to name shared enjoyment showing response to joint attention Imagination and creativity functional play sensory interests hand stereotypies repetitive interests functional play SIB overactivity aggression anxiety communication social interaction Play Repetitive Behaviour Other Moss, Howlin, Magiati &Oliver. (212). JCPP, 53,

3 2 ASD Unusual eye contact Anxiety Mean ADOS Item Score 1 odd/stereotyped pointing gestures overall language eye contact range of facial expression spontaneous initiation of joint attention quality of social overtures response to name shared enjoyment showing response to joint attention Imagination and creativity functional play sensory interests hand stereotypies repetitive interests functional play SIB overactivity aggression anxiety communication social interaction Play Repetitive Behaviour Other Moss, Howlin, Magiati &Oliver. (212). JCPP, 53, Unusual eye contact Methods: Structured social situations: Interacting adult alternates between familiar (mother) and unfamiliar (researcher) High attention (interacting adult in the room) Familiar adult Unfamiliar adult Compared to a matched group of children with Down syndrome, children with SMS: a) Showed a greater preference for attending to and initiating interaction with their mother (even when receiving high levels of attention from someone else) Low attention (interacting adult leaves the room) b) Showed relatively little attention to or initiation of interaction with the unfamiliar adult (even as an alternative source of attention when their mother is unavailable); a pattern not found in DS Unresponsive adult in the background (either mother/researcher) who is not interacting with the child) Lucy Wilde s PhD 3

4 Autism CdC Profiles of repetitive behaviour across syndromes Moss, J., Oliver, C., Arron, K., Burbidge, C. and Berg, K. (29). The prevalence and phenomenology of repetitive behavior in genetic syndromes. Journal of Autism and Developmental Disorders.39, objec orga HID AS LS FXS PWS hand st Autism CdC SMS Difference in causal pathways Executive function and social cognition Social information processing Social Cognition Battery 9 Months Understanding Intentions (unwilling vs. unable) 14 Months Helping Task Seeing is Knowing Task 18 Months Understanding Communicative Pointing 24 Months Understanding Communicative Gaze Cooperation and Social Games Task Scaled precursors to ToM TO HELP Warneken & Tomasello (27) You need an understanding what that person is intending/wanting to do. I can t reach it 4

5 Social Cognition Battery Helping SIK Point Gaze Trampoline Tubes DD DB KA CFB RAE Participant 14m 14m 18m 24m 24m 24m 42m 42m 54m 59m 64m Theory of Mind Scale Wellman and Liu (24) 42 Months: Diverse Desires Task Diverse Beliefs Task 54 Months: Knowledge Access Task 59 Months: Contents False Belief Task 64 Months: Real Apparent Emotion Task What s inside the Smarties box? It s really pencils inside! Peter has never seen inside the Smarties box before. What we he think is inside? Participants have to suppress their own knowledge and think about what Peter will think given that he hasn t seen inside A ge Months Results: Is Is ToM impaired/preserved relative to mental age? ToM Months MA Months Social Information Processing Social development is critically dependent on attending to social stimuli Differences in attending to social stimuli in with different social profiles 4 2 ToM Deficit Participants 5

6 Example videos Looking Time Proportion of social dwell time.7 directed non-directed FXS RTS Participant Group All groups look more at social directed vs. social non-directed No between groups difference in looking time to social or nonsocial Time to Fixate Ratio of time to fixate on social to nonsocial stimuli directed non-directed FXS RTS Participant Group Ppts with take longer to fixate to social directed stimuli No difference when non-directed 6

7 Time spent looking at eyes RTS FXS Ratio of time spent looking at the eye region of faces FXS RTS Participant Group Other relevant and important differences RTS FXS Participants with FXS look to the eyes at the same speed but look away quicker 7

8 5 Prevalence of selective mutism Craig at 16 He is content to just sit there until he s asked a question. Percentage Cornelia de Lange Fragile X Down Rubinstein Taybi Lisa Nelson s PhD ASD He s more quieter than he used to be. He can hold s but he is quieter when it comes to strangers. From about 1 to 4 he was very sociable. He would come up to you and talk to you even if you were stranger. When you ask him a question.it takes a bit to register.and you have got to give him time to answer. Differences in developmental trajectory Difference in trajectory FX SMS AS ASD Mean Total SCQ Score 24 FXS Under to 21 Age Group (Years) Significant interaction between syndrome group and age group: (F (2, 179) = 3.792; p<.5) Mean Total SCQ Score Interaction Score Age -11 Age Age 19+ Age Group Interacting with familiar Age -11 Age Age 19+ Age Group Interacting with unfamiliar 8

9 FX SMS AS ASD Is amount of speech related to specific cognitive deficits? 1 9 Interaction Score Age -11 Age Age 19+ Age Group Interacting with familiar Age -11 Age Age 19+ Age Group Interacting with unfamiliar Atypical Typical Atypical Participant Verbalisation (% duration) Cornelia de Lange Syndrome Down syndrome Familiar Inhibit subscale Unfamiliar Familiar Shift subscale Emotional control subscale Working memory subscale -.57 Correlations between participant speech and executive function Unfamiliar Increasing social demand Familiar Unfamiliar.1 DS Plan/Organise subscale Does any of this matter? Pragmatist or purist? Behaviourally defined criteria prevail The problem of changing to a syndrome sensitive social profile Refining assessment Effective intervention Executive function deficits vs. core social impairment Social anxiety vs. social indifference Are (critical) imitation skills impaired or intact? Theory of mind impairments combined with motivation for social contact Early and late profiles of impairment Some resources c.oliver@bham.ac.uk 9

10 Core Funding Cerebra Grant Support Medical Research Council The Big Lottery Baily Thomas Foundation Cornelia de Lange Syndrome Foundation Research Autism NE Essex PCT Birmingham Children s Hospital Angelman Syndrome Foundation (USA) Newlife National Autistic Society Economic and Social Research Council Jerome Lejeune Fondation Tuberous Sclerosis Association NIHR C.Oliver@Bham.ac.uk Debbie Allen, Jane Appleby, Ian Apperly, Sarah Beaumont, Sarah Beck, Lisa Collis, Fay Cook, Louise Davies, Kate Eden, Ruth Fishwick, Christina Goredema, Sarah Gorniak, Glyn Humphreys, Abby Marr, Jonathan Martin, Anna Mitchell, Chris Oliver, Jan Oyebode, Jane Petty, Laurie Powis, Barzan Rahman, Donna Reid, Caroline Richards, Kristina Stockdale-Juhlberg, Penny Tunnicliffe, Lucy Wilde, Kate Woodcock. 1