Autism Spectrum Disorders: Core Symptoms and their Development Rhea Paul, Ph.D., CCC-SLP Southern Connecticut State Univ

2. Triad of symptoms Severe, qualitative impairment in social interaction Qualitative impairment in communication Restrictive, repetitive or stereotyped behaviors interests or activities

3. Social Interaction Gaze Attentional patterns Eye contact Joint Attention Imitation Emotion and attachment Reciprocity Play Peer Relations

4. Eye Contact/Using Gaze to Share

5. Eye Contact

7. Gaze development in ASD Newborns show preference for faces prefer eyes by 2 mo. Can detect direction of other’s gaze by 4 mo. Children with ASD fail to develop these patterns Problems in gaze persist throughout the life span, even in HFA Are resistant to intervention

8. Joint Attention (Intersubjectivity) Dyadic: infant looks at adult Triadic: Begins w/ gaze following (6 mo.) Progresses to following point (8-10 mo.) Then to initiation w/ smiling and pointing at objects of interest (12 mo.) Lays basis for conversation Very low frequency in ASD, appears later than TD Can increase with age

9. Joint Attention Video examples: JA DD JA Autism Imitate JA

10. Imitation Emerges in infancy Basis of learning Fades in typical development Role of mirror neurons Less spontaneous imitation and less in elicitation settings for children with ASD

11. Imitation In normal development http://www.youtube.com/watch?v=-rWKSTtM6Ys In ASD Haddia example

12. Emotion and attachment Social referencing Comfort seeking Sharing emotion with gaze Children with ASD Do show attachment Have difficulty recognizing emotions: may be related to difficulties in face perception Less likely to coordinate expression of emotion (smile) with gaze Difficulties in empathy (hurt examiner experiment) Decreased social referencing (robot experiment)

13. Sharing emotions

14. Sharing emotions

15. Reciprocity Turn-taking emerges before language Back-and-forth nature of social interaction Deficits in reciprocity can be seen in both verbal and nonverbal individuals

16. Reciprocity: Preverbal

17. Reciprocity: Verbal

18. Play Normal development: 0-8 mo. All schemes to all objects 8-12 mo. Functional play 12-18 mo. Autosymbolic play 18-24 mo. Single scheme symbolic play 24-36 mo. Multischeme symbolic 3-5 Pretend, role play 5-12 games with rules

19. Play in ASD Favor exploratory, means-ends, construction, stereotypical play over pretend play Even symbolic play can be repetitive and stereotypic May prefer solitary play May have difficulty w/ flexibility in games w/ rules

20. Play

21. Peer Relations TD children move from family-centered to peer-centered social relations Children with ASD may Prefer to remain solitary Be ineffective in approaching and engaging peers Make fewer approaches to peers Respond less often to peer bids Those w/ HFA may prefer adults to peers Expand interest in peers during adolescence Become depressed over loneliness and lack of friendships

22. Communication: Definitions Communication Message Sender Receiver Language Rule-governed Conventional Symbolic Culturally Determined Communication Speech Vocal expression Sounds of language

23. Language Domains

24. Communication is a primary deficit in autism Of the triad of symptoms, communication is directly involved in two Communication deficits are a primary means of identifying and diagnosing autism Communication in autism involves both delay and deviance. Primary area of difficulty is in pragmatics BUT deficits in other areas can also be seen; sometimes are similar to those of children with specific language impairments (SLI).

25. Communication in Typical Development

26. Communication Development: Capacities at birth Vision best at face-to-face range Infants show preferences for Faces over other visual stimuli Speech over other sounds Female voices over other voices Own mother’s voice over other female voices Motherese speech-style over adult directed style Can discriminate phonemes of native and non-native languages

27. Typical Communication Development: Preverbal & Early Language Perlocutionary Stage: 0-8 mo. 0-4 mo.: Preference for faces, speech 4-8 mo.: Development of vocal communication 6-10 mo.: Emergence of preference for ambient language patterns Emergence of speech-like sounds

28. Communication Development: Preverbal Form Production 0-2 mo.: Vegetative sounds 2-4: Cooing & laughing 4-8 mo.: vocal play 6-10 mo.: canonical babble 8-18 mo.: jargon babble with prosodic contours of ambient language Perception 0-6 mo.: general speech processing abilities that are biologically determined and “generic;” can apply to any linguistic input (Eimas et al., 1971.) 7-12 mo.: Change in preferences from those that would apply to any language toward ones those closely tuned to the sound patterns of the environment

29. Perlocutionary Communication

30. Illocutionary Stage: 8-12 mo.Use Development of intentional communication expressed through Gestures, e.g., pointing Vocalization Gaze Small range of functions expressed Proto-imperative Proto-declarative 2.5 communicative acts/minute Emergence of prosodic patterns of ambient language.

31. Illocutionary Stage: Content and Form Expressive vocabulary starts slowly 12 mo: 1-3 words 15 mo.: 10 words 18 mo. 50-100 words; first word combinations First 50 words include proper and common nouns, adjectives, verbs, social terms Receptive vocabulary is larger: 50 words at 15 mo. Most words have CV shape, one syllable Sounds used are same as those found in babble: /b/, /p/ /m/, /n/, /d/, /h/, /w/.

32. Illocutionary Stage: Gestures used to express intents: Contact Point

33. Illocutionary Stage: Gestures used to express intents: Reach

34. Illocutionary Stage: Gestures used to express intents: Distal Point

35. Illocutionary Stage: Gestures used to express intents: Show

36. Illocutionary Stage: Other Conventional Gestures

37. Illocutionary Communication

38. Locutionary Communication: 12-18 mo. Add perlocutionary, illocutionary and locutionary clipsAdd perlocutionary, illocutionary and locutionary clips

39. Locutionary Development: Content Early two-word utterances express a small range of meanings Agent, action, object combinations Possession Location Attributes Meanings related to object permanence

40. Locutionary Communication

41. Communication Development: 18-24 mo. Repertoire of speech sounds increase CVC and multisyllabic words increase; many still single syllable Average child is 50% intelligible Average expressive vocabulary size at 18 mo. Is 100 words (+/- 100) Multiword utterances increase in frequency; vocabulary grows Understanding of sentences is not far ahead of production Pragmatic developments: New discourse-related communicative functions: Discourse management Turns: increasing awareness of conversational obligation Topics: 1-2 turns/topic Register variation Add clip or word combosAdd clip or word combos

42. 18-24 mo. Communication

43. Limitations in Communication is ASD: Prelinguistic Level Delayed onset of speech (Stone et al., 1994) Atypical preverbal vocalizations (Sheinkopf et al., 2000) Depressed rate of preverbal communication (Wetherby, Prizant & Hutchinson, 1998) Restricted range of communicative behaviours, limited primarily to regulatory functions (Mundy & Stella, 2000) Low responsiveness to speech (Osterling & Dawson, 1994) Delayed and deviant use of gestures (Dawson et al., 1998; Stone, et al., 1997) Dearth of pretend and imaginative play (Stone et al., 1994) Laci of imitation orally, vocally, and verbally (Volkmar et al., 1997)

44. TD: Comment

45. ASD: Comment

46. Developing Language

47. Communication Development: 24-36 mo. Form and Content Average expressive vocabulary size at 24 mo. Is 300 words (+/-150); word classes include Object & action words Kinship terms Spatial terms Question words Color, shape words Grammatical morphemes, verb phrase marking emerges; some overgeneralization Grammatical forms for sentences such as questions, negatives are emerging Sentence length is 3-5 words Intelligibility increases from 50% to 70%

48. Communication Development: 48-60 mo.: Form & Content Vocabulary at school entry=6000 words Basic grammatical forms mastered expressively and receptively; few grammatical errors are heard Overgeneralization may persist Average 4 year is 100% intelligible Speech errors may persist, but speech can be understood Residual errors in /s/, /l/, and /r are last to resolve

49. Background: Pragmatics of Language Pragmatic domains: Communicative functions Discourse management Register variation Presupposition Prosody

50. Communication Development: 48-60 mo.: Use Communicative functions Increase in range of functions New genre: narration Increase in decontextualized talk Discourse management Requires less support from adults; still needs some Longer turns; more turns/topic

51. Communication Development: 48-60 mo.: Use Register variation New polite forms: permission requests, permission directives, some indirect requests 4-7: hints Ability to use ‘motherese’

52. Preschool Conversation

53. Early Verbal Communication in ASD Pronoun reversals Idiosyncratic word use Use of immediate and delayed echolalia (communication strategy) Perseverative conversation Atypical voice and prosodic features

54. Echolalia http://www.youtube.com/watch?v=sniGZoVB0R4&feature=related

55. Conversation in ASD

56. Communication Development in Later Childhood and Adolescence Syntax/Semantics Increases in oral and written forms Increases in figurative, nonliteral language Pragmatics Discourse Genres Narration Persuasion/negotiation Exposition Ambiguity/sarcasm Register variation Slang Figurative language

57. Communication in Youth

58. Impairments in Higher Level Language Skills in ASD Reduced topic management skills appropriate topic termination Responding to cues to change topic Commenting contingently; say something relevant Reduced presuppositional skills due to “theory of mind” (ToM) deficits Poor ability to share topics infer other’s informational state Obsessive, circumscribed interests Sparse conversation OR overly talkative about special interests Gaze and prosodic deficits persist

59. Discourse Management Example

60. Presupposition Example

61. Prosody Example

62. Circumscribed Interest Example

63. Repetitive behaviors http://www.youtube.com/watch?v=-6blmKiPe9c&feature=related http://www.youtube.com/watch?v=MB9UDDLJfKM&feature=related

64. Controversial Treatments Promise to cure the core symptoms of ASD Definition of the core deficits often lacks solid empirical evidence (e.g., metabolic problems, exposures, ‘visual processing’) Offer vague benefit (e.g., improve focus) Lack of empirical evidence Reliance on uncontrolled studies, single-case testimonials Claim that ‘they cannot be studied ‘ Often claim persecution form the scientific establishment Staying open-minded How can we tell noncontroversial or less controversial treatments: you can usually read about them in peer-reviewed journals, they have sound theory and at least some demonstrated efficacy, they tend to be manualized and do not promise miracles.How can we tell noncontroversial or less controversial treatments: you can usually read about them in peer-reviewed journals, they have sound theory and at least some demonstrated efficacy, they tend to be manualized and do not promise miracles.

65. Gluten- Free & Cassien-Free Diet (GFCF) “Leaky gut” -> peptides crossing blood-brain barrier -> disrupted neurotransmitter breakdown -> increase of opiotoids -> activity-autism. “Leaky gut” could be caused by: yeast overgrowth, gastrointestinal disease due to immunization, etc. No evidence for these causal relationships Systematic study of GFCF diet initiated at University of Rochester Alternative – Fad, un-corroborated, non-evidence basedAlternative – Fad, un-corroborated, non-evidence based

66. Ethyl Mercury (Thimerosal) Exposure Danish “Natural Experiment” 1970 – 1992 petrussis vaccine contained Thimerosal 1992-1997: same vaccine w/o Thimerosal 1997: different petrussis vaccine w/o Thimerosal Danish Psychiatric Register Data: contrary to prediction, no difference in rates of autism was found between groups who received Thimeraosal and those who did not

67. Chelation Therapy Hypothesized toxic effects of mercury exposure, mercury accumulates in internal organs (hair trace analysis) Chelation: introduction into the blood stream agents that bond with specific metals in the body Purely hypothetical connection between mercury poisoning and autism No empirical evidence supporting the claim, no reports of curing autism or improving symptoms following chelation Possible side-effects of chelation: washes out valuable minerals, very costly diagnostic process Two children have died following chelation.

68. Supplements Assumption that developmental disabilities may be caused by innate biochemical errors E.g., B6+magnesium supplements Lack of well-controlled, long-term follow up studies Possible side effects: high dose of B6: possible neuromotor side effects in adults, magnesium: potentially toxic metal in high doses

69. Secretin Pancreatic hormone assisting digestion “Cure” of autism (Horvath et al., 1998) after single injection of the hormone Controlled studies: secretin has the same effect as placebo (Carey et al., 2002; Chez et al., 2000; Owley et al., 1999) Positive effect on children with autism and diarrhea, but no reduction in aberrant behaviors; no effect on those w/o diarrhea (Kern et al., 2002)