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Infants at Risk for Autism Spectrum Disorder: Gestures in Infants and Mothers

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Infants at Risk for Autism Spectrum Disorder: Gestures in Infants and Mothers Infants at Risk for Autism Spectrum Disorder: Gestures in Infants and Mothers by Shelley Jay Mitchell A thesis submitted in conformity with the requirements for the degree of Doctor of Philosophy Department of Speech–Language Pathology University of Toronto © Copyright by Shelley Jay Mitchell (2013) Infants at Risk for Autism Spectrum Disorder: Gestures in Infants and Mothers Doctor of Philosophy, 2013 Shelley Jay Mitchell Department of Speech–Language Pathology, University of Toronto Abstract Infants with an older sibling diagnosed with an autism spectrum disorder (ASD) have a twentyfold increase in risk of developing ASD. Deficits in gesture use are among the first signs of impairment in infants later diagnosed with ASD. Typically, infants develop gestures incidentally in the context of social interactions with their parents. However, infants at risk for ASD may not acquire gestures within these natural interactions. The first purpose of this research was to determine whether infants at high risk for ASD show patterns of communicative and play gestures that are delayed and/or different relative to low‐risk infants. The second purpose was to compare mothers of infants at risk for ASD with mothers of infants at low risk for ASD in their use of gestures, gesture strategies, and prompts. Seventeen 15‐month‐old infant‐mother dyads were recruited from a longitudinal study of the emergence of autism symptoms in infants with an older sibling with ASD (high risk for ASD, n = 8; low risk for ASD, n = 9). Infant gestures were examined in three contexts: during clinical assessment, during naturalistic play with their mothers, and by parent report. Maternal gestures and gesture‐ related behaviours were recorded during the play interaction. Infant and maternal gesture behaviours were later coded from video. ii High‐risk infants showed different patterns of gesture use relative to low‐ risk infants. In clinic and home contexts, high‐risk infants: (a) used gestures that were not directed to a communicative partner more often than low‐risk infants, and (b) showed specific deficits in the use of deictic and joint attention gestures. In addition, high‐risk infants: (a) demonstrated fewer symbolic play acts at home, and (b) had a smaller inventory of communicative and play gestures by parent report. Mothers of high‐risk infants used more play gestures, but were otherwise no different in their gesture behaviours from mothers of low‐risk infants. This research demonstrated that, at 15 months of age infants at risk for ASD showed delays and differences in gesture use despite receiving typical gestural input from their mothers. The patterns of these deficits may be important in early identification and could inform intervention practices. iii Table of Contents Abstract………………………………………………………………………………………………………....…....ii List of Tables……………………………………………………………………………………………..………....v List of Figures……………………………………………………………………………………………….…....vii Introduction……………………………………………………………………………………………………..….1 Method………………………………………………………………………………………………………..…….36 Results………………………………………………………………………………………………………………60 Discussion ...............................................................................................................................................100 References…………………………………………………………………………………………………….…130 Appendix A. Orientation to Study and Instructions for Mothers………………………….148 Appendix B. Caregiver Perception Rating Form (Home Visit) …………………………….149 Appendix C. Caregiver Perception Rating Form (Clinic Visit) …………….……………….150 Appendix D. Telephone Script for Contacting Mothers Scoring Seventeen or Higher on the BDI‐II………………………………………………….………………………………………....151 Appendix E. Gesture Coding Manual: Infants……...…………………………………………...…152 Appendix F. Gesture Coding Manual: Mothers……………………………………………………161 iv List of Tables Table 1. Types of Gestures…………………………………………………………………………………..6 Table 2. Communicative Functions of Gestures………………………………………………...…..7 Table 3. Characteristics of High­ and Low­Risk Infants……………………………………….39 Table 4. Characteristics of Mothers of High­ and Low­Risk Infants………………………40 Table 5. Ethnic Backgrounds of Mothers with High­ and Low­Risk Infants…………...42 Table 6. Descriptions and Examples of Infant Codes………………………………………..….53 Table 7. Descriptions and Examples of Codes for Mothers…………………………………...55 Table 8. Percentage Agreement for Infant Behaviours and Infant Symbolic Play Acts Coded (Clinic and Home Contexts), Maternal Gestures and Related Behaviours, and Maternal Symbolic Play Acts Coded………………………………………………..…...58 Table 9. Reliability Coefficients and Percentage Agreement for Infant Gestures (Clinic and Home Contexts)……………………………………………………………………….59 Table 10. Percentage Agreement and Reliability Coefficients for Mothers’ Gestures, Prompts, and Gesture Strategies to Augment Spoken Language………………..…59 Table 11. Means and Standard Deviations for Directed and Non­Directed Gestures in Clinic and Home Contexts by Group …………………………………………………………..63 Table 12. Mean Proportion (as percentage) of Non­directed Gestures for Individual Cases Averaged Across Clinic and Home Contexts…………………………….………….70 Table 13. Mean Rates and Standard Deviations for Types of Gestures in Clinic and Home Contexts by Group …………………………………………………………………………. 72 Table 14. Means and Standard Deviations for Functions of Gestures in Clinic and Home Contexts by Group …………………………………………………………………………..80 Table 15. Means and Standard Deviations for Infant Symbolic Play Acts in Clinic and Home Contexts by Group…………………………………………………………………………...86 Table 16. Means and Standard Deviations for Overall Rate of Maternal Gestures and Types of Gestures by Group ………………………………………………………………...…….90 Table 17. Means and Standard Deviations for Communicative Functions of Maternal Gestures by Group ……………………………………………………………………………………93 v Table 18. Means Rates and Standard Deviations for Maternal Gesture Strategy by Group ……………………………………………………………………………………………………..96 Table 19. Summary of Within­Group Profiles of Directedness, Types, and Functions of Gestures for High­ and Low­Risk Infants in Clinic and Home Contexts…..…….111 vi List of Figures Figure 1. Recruitment and Procedures……......................................................................................42 Figure 2. Profile Plot for Mean Rates of Directed and Non­Directed Infant Gestures in a Clinic Context………………………………………...……………………………………………….….65 Figure 3. Profile Plot for Mean Rates of Directed and Non­Directed Infant Gestures in a Home Context…………………………………………………………………………………………….67 Figure 4. Profile Plot for Mean Rates of Types of Infant Gestures in a Clinic Context..74 Figure 5. Profile Plot for Mean Rates of Types of Infant Gestures in a Home Context.78 Figure 6. Profile Plot for Mean Rates of Communicative Functions of Infant Gestures in a Clinic Context…………………………………………………………………………………………81 Figure 7. Profile Plot for Mean Rates of Communicative Functions of Infant Gestures in a Home Context……………………………………………………………………………..………….84 Figure 8. Mean Rates and Standard Deviations of Infant Symbolic Play Acts in a Clinic Context…………………………………………………………………………………………………………87 Figure 9. Mean Rates and Standard Deviations of Infant Symbolic Play Acts in a Home Context………………………………………………………………………………………………88 Figure 10. Mean Number and Standard Deviations of Parent­Reported Early and Late Gestures……………………………………………………………………………………………………….89 Figure 11. Profile Plot for Mean Rates of Types of Maternal Gestures……………………….92 Figure 12. Profile Plot for Mean Rates of Communicative Functions of Maternal Gestures. ………………………………………………………………………………………………….…..94 Figure 13. Mean Rates and Standard Deviations of Maternal Symbolic Play Acts……..95 Figure 14. Profile Plot for Mean Rates Showing Maternal Gesture Strategies Used to Augment Spoken Language……………………………………………………………….…………97 Figure 15. Mean Rates and Standard Deviations of Maternal Prompts to Encourage Infant Gesturing……………………………………………………………………………………...……99 vii Autism, which forms part of a spectrum known as the Autism Spectrum Disorders (ASD), is a complex neurodevelopmental disorder with a unique constellation of symptoms characterized by qualitative impairments of social interaction, verbal and non‐verbal communication, and by the presence of repetitive, inflexible behaviours and interests (Bertrand et al., 2001; Chakrabarti & Fombonne, 2001). Recent epidemiological estimates indicate the prevalence of ASD is 1 in 88 (Autism and Developmental Monitoring Network Surveillance Year 2008 Principal Investigators and Center for Disease Control, 2012). Autism spectrum disorders are widely considered to have substantial genetic heritability (Lauritsen, Pedersen, & Mortensen, 2005; Szatmari et al., 2000; also see Weiss, 2009 for review). Therefore, infants who have an older sibling with ASD are at increased genetic risk of developing ASD. Previous recurrence in siblings has been estimated at about 10% (Constantino, Zhang, Frazier, Abbacchi, & Law, 2010; Sumi Taniai, Miyachi, & Tanemura, 2006) or at least a twentyfold increase (Bailey, Phillips, & Rutter, 1996; Lauritsen et al., 2005; Ritvo et al., 1989) relative to population prevalence. More recently, the largest prospective study of recurrence in high‐risk siblings, Ozonoff et al. (2011) estimated a recurrence rate of 18.4% in infant siblings of children with ASD. Prospective studies comparing the development of infants with an older sibling with ASD (high­risk infants) to those with low genetic risk for ASD have identified a number of early diagnostic indicators. By 24 months of
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