Pragmatic language in fragile X syndrome, autism, and Down syndrome
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1 Pragmatic language in fragile X syndrome, autism, and Down syndrome Jessica Klusek, MS CCC-SLP FPG Child Development Institute (FPG) University of North Carolina at Chapel Hill (UNC) Molly Losh, PhD Northwestern University Gary E. Martin, PhD CCC-SLP FPG Child Development Institute (FPG) University of North Carolina at Chapel Hill (UNC) American Speech-Language-Hearing Association Convention Atlanta, GA November, 2012 Disclosure Statement: The authors have no relevant financial or nonfinancial relationships within the products described, reviewed, evaluated or compared in this presentation
2 Background Agenda Autism, fragile X syndrome, Down syndrome Pragmatic language assessment Study Aims: To determine whether boys with autism, fragile X syndrome, Down syndrome, and typical development differ in pragmatic language abilities To explore the impact of autism on pragmatic skills Methods Results Summary and Next Steps
3 Autism Spectrum Disorders (ASD) Prevalence: 1 in 88 children (CDC, 2012) Evidence supports a genetic component, although exact genetic mechanisms unknown Defined by a triad of symptoms: Social Reciprocity Restricted/re petitive behaviors Communication
4 Fragile X Syndrome (FXS) Prevalence: 1 in 4000 males; 1 in 6000 females Caused by an expansion of the trineucleotide gene sequence (CGG) of the Fragile X Mental Retardation-1 gene (FMR1) on the X chromosome Phenotype: Intellectual disability Speech & language impairment Social anxiety Hyperactivity Most common known single-gene disorder associated with ASD 50-74% of individuals with FXS meet the criteria for ASD
5 Down Syndrome (DS) Prevalence: 1 in 800 Caused by an extra copy of the 21 st chromosome Most common non-inherited cause of intellectual disability Speech & language difficulties are common
6 Pragmatic Language Impairment Appropriate use of language in social contexts Universally observed in ASD Also seen in FXS, although it is unclear whether pragmatic impairments in FXS are linked to cooccurring ASD Few studies have directly compared pragmatic language abilities in ASD and FXS Do children with ASD and FXS show different pragmatic strengths and weaknesses?
7 Pragmatic Language Assessment Standardized (Structured) Pros: Quick Easy Controlled testing Many are norm-referenced Cons: De-contextualized (poor generalizability) - Contrived context - Simplified information processing - Performance not in realtime Most provide only a summary score Semi-Naturalistic Ecologically valid Samples different aspects of behavior Time consuming Most not norm-referenced Many not comprehensive
8 Study Aims To determine whether boys with ASD, FXS, Down syndrome, and typical development differ in pragmatic language ability To explore the impact of ASD on pragmatic language ability in FXS
9 Participants Subgroup of boys participating in an study of pragmatic language in FXS and ASD (Losh, Martin et al., 2012) 34 with idiopathic autism spectrum disorder (ASD) 38 with FXS with ASD (FXS-ASD) 10 with FXS without ASD (FXS-only; FXS-O) 20 with Down syndrome (DS) 20 typically developing (TD) Inclusion Criteria: English was the primary language Regularly using phrases of at least 3 words ASD ruled out in the DS and TD groups
10 Group Characteristics Chronological age Nonverbal mental age 1 Receptive vocabulary 2 Expressive vocabulary 3 Mean length of utterance ASD FXS-ASD FXS-O DS TD 9.6 a ( ) 7.8 a ( ) 7.4 a ( ) 6.9 a ( ) 4.8 a ( ) 12.2 b ( ) 5.1 b ( ) 6.2 a ( ) 5.5 a,b ( ) 3.5 c ( ) 11.1 a,b ( ) 5.2 b ( ) 7.0 a ( ) 6.0 a,b ( ) 4.5 a,b,c ( ) 12.9 b ( ) 5.7 b ( ) 5.9 a ( ) 5.9 a,b ( ) 2.2 c ( ) 4.8 c ( ) 5.3 b ( ) 6.1 a ( ) 5.7 a,b ( ) 4.9 a ( ) Note: 1 Age equivalent of the Leiter-R Full Scale IQ or WASI Performance IQ; 2 PPVT age equivalent 3 EVT age equivalent. Means in the same row with different subscripts differ significantly at p <.05.
11 Autism, Cognitive, and Structural Language Assessment Autism: Autism Diagnostic Observation Schedule (ADOS; Lord et al., 2001) Nonverbal Cognition: Leiter International Performance Scale-Revised (Leiter-R; Roid & Miller, 1997) Structural Language: Peabody Picture Vocabulary Test-III (PPVT; Dunn & Dunn, 1997) Expressive Vocabulary Test (EVT; Williams, 1997) Mean length of utterance in morphemes (MLU) Calculated using SALT (SALT; Miller & Chapman, 2008) 110 child turns, taken the ADOS Morpheme-to-morpheme reliability of 7% of transcripts = 78%
12 Pragmatic Language Assessment: Standardized Pragmatic Judgment subtest of the Comprehensive Assessment of Spoken Language (CASL-PJ; Carrow-Woolfolk, 1999) Participants are shown pictures and asked what the children in the pictures should say or do Normed on individuals aged 3-21 years Test-retest reliability coefficients range from across age groups
13 CASL-PJ
14 Pragmatic Language Assessment: Semi-Naturalistic Pragmatic Rating Scale- School Age (PRS-SA; Landa, 2011) 33 items, coded on a scale of 0-2 Coded from interaction during the ADOS Coded by an SLP who had achieved reliability with the creator of the PRS-SA blind to 86% of participants diagnoses Inter-rater reliability = ICC (3, 2): % of sample randomly selected, coded by a trained, blind independent rater
15 PRS-SA Items 1. Reduced communicative intents 2. Overly candid 3. Swearing 4. Overly talkative 5. Overly detailed 6. Fails to provide background info. 7. Redundant 8. Fails to signal humor 9. Unable to clarify 10. Does not initiate 11. Shifts topics 12. Interrupts 13. Fails to acknowledge 14. Does not elaborate 15. Perseverates 16. Makes unusual vocal noises 17. Poor reciprocal conversation 18. Overly formal 19. Scripting 20. Grammar/vocabulary errors 21. Unintelligible 22. Rate 23. Intonation 24. Volume 25. Character speech 26. Language formulation 27. Stuttering/cluttering 28. Mismanagement of interpersonal space 29. Gestures 30. Mannerisms 31. Unusual facial expressions 32. Eye contact 33. Vegetative sounds
16 PRS-SA
17 Results
18 Group Comparisons: CASL-PJ CASL-PJ Age Equivalent a,b b b a,b a ASD FXS-ASD FXS-O DS TD Note: Covariate-adjusted means, controlling for chronological age, nonverbal mental age, receptive and expressive vocabulary, and mean length of utterance. Groups sharing the same letter did not differ significantly (p <.05). Lower scores indicate greater impairment.
19 Group Comparisons: PRS-SA PRS-SA Total Score a a b b,c c ASD FXS-ASD FXS-O DS TD Note: Covariate-adjusted means, controlling for chronological age, nonverbal mental age, receptive and expressive vocabulary, and mean length of utterance. Groups sharing the same letter did not differ significantly (p <.05). Higher scores indicate greater impairment.
20 Summary Boys with ASD and FXS-ASD showed similar levels of pragmatic language impairment Pragmatic language impairment is a core feature of autism, that extends to syndromic forms of the disorder (namely, autism associated with FXS) ASD-status in FXS impacts pragmatic language Children with FXS with co-occurring ASD showed greater pragmatic language difficulties Children with FXS should be evaluated for ASD
21 Implications for Pragmatic Language Assessment Multimodal pragmatic language assessment is important Group patterns differed on PRS-SA and CASL-PJ PRS-SA more sensitive to group differences Benefits of naturalistic pragmatic assessment: More representative of real-life skills Helps identify specific pragmatic features to guide intervention Can be repeated without learning effects May be more sensitive to small changes (tracking progress)
22 Future Directions Pragmatics in other contexts (narrative, conversation with peer)? Causes of pragmatic language impairment (theory of mind, hyperarousal)? Pragmatic language in girls with ASD and FXS Autism-specific pragmatic language interventions for children with FXS?
23 Acknowledgments Children & Families Communication and Neurodevelopmental Disabilities Project at Frank Porter Graham Child Development Institute (PI: Dr. Gary Martin) AND Neurodevelopmental Disabilities Laboratory at Northwestern University (PI: Dr. Molly Losh) Other colleagues: John Sideris, Jan Misenheimer Dr. Joanne Roberts FPG s James J. Gallagher Dissertation Award National Institute of Health: NICHD, NIDCD The Research Participant Registry Core of the Carolina Institute for Developmental Disabilities
24
25 Results What is the concordance between standardized and semi-naturalistic pragmatic language assessment tools?
26 Correlations between PRS-SA and CASL-PJ PRS-SA Full Sample ASD-O FXS-ASD FXS-O DS TD CASL-PJ -.26* -.40* Note: *p <.05
27 Results Is autism severity a unique predictor of pragmatic language ability in FXS and ASD? Accounting for autism continuously
28 Autism Severity as Predictor of CASL-PJ R 2 R 2 Δ FΔ Step 1: age Step 2: age, Leiter- R, PPVT, EVT, MLU Step 3: age, Leiter- R, PPVT, EVT, MLU, ADOS **p<.01; ***p<.001 ASD *** Mental age and structural language accounted for 77% of the variance beyond chronological age. Autism severity did not account for significant variance after accounting for chronological age, mental age, and structural language. FXS (all) Mental age and structural language accounted for 64% of the variance in CASL-PJ Autism severity uniquely predicted 5% of the variance beyond chronological age, mental age, and structural language R 2 R 2 Δ FΔ Step 1: age Step 2: age, Leiter-R, PPVT, EVT, MLU Step 3: age, Leiter-R, PPVT, EVT, MLU, ADOS **p<.01; ***p< *** **
29 Autism Severity as Predictor of PRS-SA ASD R 2 R 2 Δ FΔ Step 1: age Step 2: age, Leiter R, PPVT, EVT, MLU Step 3: age, Leiter ** R, PPVT, EVT, MLU, ADOS **p<.01 Mental age and structural language did not account for significant variance in PRS-SA Autism severity accounted for 27% of variance in PRS-SA beyond chronological age, mental age, and structural language. FXS (all) Mental age and structural language did not account for significant variance in PRS-SA Autism severity uniquely predicted 34% of the variance beyond chronological age, mental age, and structural language R 2 R 2 Δ FΔ Step 1: age Step 2: age, Leiter- R, PPVT, EVT, MLU Step 3: age, Leiter- R, PPVT, EVT, MLU, ADOS ***p< ***
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