1. + Interpreting Faces and Eyes in Individuals with Autism Spectrum Disorders, Fragile X Syndrome and Rubinstein Taybi Syndrome Hayley Mace, Joanna Moss, Giles Anderson, Chris Oliver and Joseph McCleery

2. + Different Social Phenotypes Fragile X Syndrome Rare genetic syndrome Intellectual disability Autism (Moss & Howlin, 2009) Social withdrawal Social anxiety (Cornish et al., 2007) Autism Spectrum Disorders Triad of impairments Social withdrawal Social indifference (Cornish et al., 2007) Rubinstein Taybi Syndrome Rare genetic syndrome Intellectual disability Increased social competence given degree of intellectual disability (Galera et al., 2009)

3. + Social Phenotypes and Face Processing Williams syndrome: Increased looking at the eyes compared to TD (Riby & Hancock, 2008) FXS: Decreased eye looking compared to TD (Farzin et al., 2009) ASD: Typical eye looking when using static stimuli (Speer et al., 2007) RTS: No previous literature

4. + Eye Looking and Emotion Recognition Eye gaze important for accurate emotion recognition (Baron- Cohen et al., 1997b) Impairments in understanding emotions suggested to underlie social impairments in psychiatric disorders (Baron- Cohen, 1995, 2002; Happé & Frith, 1996; Brüne, 2004) Intact explicit emotion recognition in FXS (Turk & Cornish., 1998) and ASD (see Harms, Martin & Wallace, 2010) Importance of distinguishing implicit/explicit (Senju, Southgate, White & Frith., 2009)

5. + Research Questions 1) Do individuals with FXS, ASD and RTS show differential looking patterns to facial features? Hypothesis: Increased eye looking in RTS, decreased eye looking in FXS and typical eye looking in ASD Do individuals with FXS, ASD and RTS spontaneously discriminate between emotions? Hypothesis: Atypical in FXS, typical in RTS

6. + Method: Participants CharacteristicFXS (n=13) ASD (n=15) RTS (n = 17) TD Child (n=14) Age in Years Mean (SD)19.70 (9.00)11.01 (3.48) 17.33 (10.14) 6.99 (1.67) Range6.60 - 34.196.71 - 18.76 4.31 - 37.10 3.80 - 9.50 Gender (% male)92.3180.00 41.18 50.00 Adaptive Behaviour Age Equivalence Mean in Years (SD) 5.88 (2.15)4.92 (3.38)6.04 (3.49) N/A ASD & FXS: Database of participants who have previously taken part in studies at the Cerebra Centre

7. + Method Emotion - Happy  One face displayed a neutral expression, the other displayed a happy expression  5 trials Baseline trials  Both faces displayed a neutral expression  70 trials Emotion - Disgust  One face displayed a neutral expression, the other displayed a disgust expression  5 trials 2 faces for 1.5 seconds 1 of 2 blocks (different presentation order) Passive viewing

8. + Heat Maps ASDFXS Td ChildRTS

9. + Looking at the Eyes & Mouth Significant between-groups difference in time spent looking at the eye region (F (3,55) = 7.345, p <.001) Bonferroni post-hoc tests: FXS look less at eyes than ASD (p <.001) and TD Child (p =.004) No significant difference between groups in mouth looking (F (3,55) = 1.284, p =.289)

10. + Results: Spontaneous Emotion Discrimination All groups looked at happy and neutral faces a similar amount (p >.05) All groups looked significantly longer at disgust faces than neutral faces (p <.05) No between group differences in happy preference (F (3,55) =1.595, p =.201) or disgust preference (F (3,55) =.624, p =.602) * * * *

11. + Results FXS look less at the eyes than ASD and TD ASD look at the eyes a similar amount to TD children RTS look at the eyes a similar amount to TD children All participants performed the same on spontaneous emotion discrimination Accounting for differences between participant characteristics: CA & ANCOVA

12. + Eye Looking and Social Phenotypes FXS Social anxiety Less eye looking ASD Social indifference Typical eye looking RTS Social competence Typical eye looking

13. + Discussion: Looking to the Eyes and Mouth FXS consistent with literature (Farzin et al., 2008) ASD consistent with static literature Static stimuli (Speer et al., 2007) Less eye looking in ASD with moving stimuli (Klin et al., 2002) No previous literature for RTS Similar social phenotype as WS but differences in looking to the eyes (Klin et al., 2002)

14. + Discussion: Spontaneous Emotion Discrimination All participants discriminated between disgust and neutral faces but not happy and neutral faces Negativity bias Look longer at fearful than happy (Ludemann & Nelson, 1988) Novelty bias Attentional advantage (Desimone & Duncan, 1995) Participants with ASD, FXS and RTS discriminate emotions in the same way as TD participants

15. + Discussion Similar behaviours in ASD and FXS but differences in eye looking Similar behaviours in RTS and WS but differences in eye looking FXS reduced eye looking but typical spontaneous emotion discrimination Compensatory mechanisms?

16. + Thank you for listening Thank you to: Families Fragile X Society, UK and RTS, UK Funders: Economic and Social Research Council (ESRC) and Cerebra Supervisors: Dr. Joe McCleery, Dr. Joanna Moss, Professor Chris Oliver