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Colour Perception in Autism Spectrum Condition and Williams Syndrome Colour Perception in Autism Spectrum Condition and Williams Syndrome A thesis submitted for the degree of Doctor of Philosophy Matthew Benjamin Cranwell Institute of Neuroscience, Faculty of Medical Sciences, Newcastle University September 2016 Abstract Autism Spectrum Condition (ASC) and Williams syndrome (WS) are neurodevelopmental conditions associated with socio-communicative deficits. Also, present in both conditions are sensory sensitivities and reactivities. In ASC extreme sensory reactivity/sensitivities in one or more of any sensory domain have recently been recognised as new diagnostic criteria in DSM-V. Whilst in WS there are reported visuo-spatial and auditory atypicalities. There is increasing importance in identifying both the typical and atypical development of sensory processing, as well as establishing condition-specific and condition-general aspects of sensory processing. Traditionally sensory processing has been studied using a cross-sectional design using either psychophysical tasks or behavioural questionnaires. However little work has attempted to link between these different methodologies resulting in a disconnected study of sensory processing in both typical and atypical development. Colour perception is useful domain to study sensory processing because it can be characterised through psychophysical/cognitive tasks and behavioural questionnaires. Colour perception is also relatively understudied in both ASC and WS despite anecdotal reports of behaviour being influenced by colour. The present research aims to investigate colour perception in ASC and WS relative to mental age typically developing (TD) controls using the same participants across a combination of psychophysical (chromatic discrimination - chapter 3), cognitive (chapters 4 and 5, colour preference and naming), questionnaire (chapter 6) and case studies (chapter 7) methodologies to establish a rounded representation of colour perception in ASC and WS through using these mixed methodologies. The results show condition specific atypicalities across all tasks relative to TD controls. For the ASC group, there was poorer chromatic discrimination, different colour preference patterns and increased frequency of colour affected behaviours. Whilst the WS group showed less pronounced colour preference patterns and atypical colour naming. The differences in results between different measurements of colour perception and condition-specific responses between the ASC and WS suggest that sensory processing is not a homogenous concept but should be considered in relation to the measurements chosen. The results are discussed within the context of diagnostic criteria, approaches to studying sensory processing and syndrome- specificity. Dedication This thesis is dedicated to those individuals with autism and Williams syndrome and their families. These children who served as an inspiration to me through their personality as well as their struggles, and also their parents who are so dedicated to their children, were a major motivation for this body of work. Acknowledgements I would like to acknowledge and express my personal gratitude to my three supervisors; Anya Hurlbert, Ann Le Couteur and Deborah Riby who have helped guide me throughout the course of my PhD. In particular, for their encouragement, support and perseverance during throughout my PhD. Special thanks go to the Estate of David Murray Garside and the Newcastle Vision fund, and to Anya Hurlbert for help in securing funding, without whom, this thesis would not have been possible. These thanks are extended to my lab colleagues, both past and present, Angela Owen, Stacey Aston and Stuart Crichton for their insightful discussions and for making the PhD an enjoyable experience, and Brad Pearce for his assistance with programming the CCDT. As well as Jenny Read and Jacqui Rodgers for their support during progress reviews. In addition to countless others who I have had the pleasure of meeting and working with. I would especially like to thank the Williams Syndrome Foundation, Daslne, Bamburgh School, Collingwood School and Media Arts College, South Gosforth First, Stannington First School, Morpeth All Saints School for their help in recruiting participants. To Nicole, your support has been insurmountable and invaluable, whilst your love which have helped keep me on track. But most importantly have allowed us to graduate together. Finally, to my family and friends who have supported and driven me on to move onwards, of which the thesis has been a big stepping stone. Table of Contents Chapter 1 – General Introduction ......................................................................................................... 1 1.1 Overview .......................................................................................................................................... 1 1.2. Overview of the neurodevelopmental disorders Autism Spectrum Condition and Williams Syndrome ............................................................................................................................................... 1 1.2.1 Overview of Autism Spectrum Condition .................................................................................... 1 1.2.2 Sensory Processing Atypicalities in Autism ................................................................................. 3 1.2.3 Overview of Williams Syndrome .................................................................................................. 5 1.2.4 Sensory Processing Atypicalities in Williams Syndrome ............................................................. 6 1.3. Overview of Human Visual Processing........................................................................................... 7 1.3.1 Colour Vision ............................................................................................................................... 10 1.4. Atypicalities of Visual Processing in the Developmental Conditions Autism and Williams syndrome ............................................................................................................................................. 14 1.4.1 Visual Processing in Autism Overview ....................................................................................... 14 1.4.2 Visual Processing in Williams Syndrome Overview ................................................................... 20 1.5. Neural correlates and theoretical explanations of sensory processing atypicalities in developmental disorders ..................................................................................................................... 21 1.5.1 Perceptual theories of atypical sensory processing in Autism.................................................. 21 1.5.2 Neural correlates of sensory processing atypicalities in autism ............................................... 23 1.5.3. Perceptual Theories of Williams Syndrome .............................................................................. 25 1.5.3.2 Neural correlates of atypical sensory processing in WS......................................................... 26 1.6. Comparison of Sensory Sensitivities between Autism and Williams Syndrome ........................ 27 1.7. Why Study Colour Perception in Autism and Williams Syndrome ............................................. 28 1.8. Aims of Thesis ............................................................................................................................... 29 Chapter 2 – General Methods ............................................................................................................. 31 2.1 Overview ........................................................................................................................................ 31 2.2 Characterisation of Sample ........................................................................................................... 31 2.3 Participant Recruitment ................................................................................................................ 33 X 2.3.1 Sample Size .......................................................................................................................... 34 2.3.2 Inclusion and exclusion criteria ........................................................................................... 35 2.3.3 Final Sample Criteria ........................................................................................................... 35 2.4 Developmental Methods............................................................................................................ 37 2.4.1 Matched Groups Design ...................................................................................................... 37 2.4.2 Developmental Trajectories ................................................... Error! Bookmark not defined. 2.5 The Psychophysics Method ........................................................................................................ 42 2.5.1 Forced Choice Method ........................................................................................................ 43 2.5.2 Staircase Method ................................................................................................................. 44 2.6 Colorimetric specification of colour stimuli............................................................................... 45 2.6.1 Physiological cone-contrast space ...................................................................................... 46 2.6.2
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