prof. norbury lecture: 'overlap between asd and sli: diagnostic challenges
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overlap between autism spectrum disorders (ASD)
and specific language impairment (SLI):
diagnostic challenges
Professor Courtenay Frazier NorburyRoyal Holloway
University of London1
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why is there so much variation in core language skills within ASD?
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outline of the session
• overview of language profile(s) in ASD
• does autism cause language impairment?
• is language impairment a co-morbid (co-occurring) condition?
• multiple factors that contribute to variation in language development within ASD.
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Language
Phonology
the sounds of
language
Syntax/morphology
the rules that control sentence formation and word endings (plural, past tense)
Semantics
the meaning of individual words & words in context
Pragmatics
the social use of language in context & social exchanges
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autism spectrum disorder (ASD)
social-emotional reciprocity
nonverbal communicative behaviours
developing and maintaining relationships
Stereotyped behaviour
Routines, rituals & rigidity
Highly restricted, fixated interests
unusual sensory interests
social communication and social interaction
restricted repertoire of interests and behaviours
DSM-5 criteria for ASD5
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together, these core deficits should really derail language
acquisition
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‘normal’ range
= omnibus test of language production and comprehension (grammar)
= receptive and expressive vocabulary (semantics)
= articulation/phonology
= non-sense word repetition (memory and phonology)
language in ASD is hetergeneous(Tager-Flusberg & Joseph, 2003)
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‘specific’ language
impairment
“pragmatic” language skills are extremely variable!
structural language impairments are universal
deficits in morphosyntax and grammar
weaknesses in semantics and word learning
limitations in verbal short-term and working memory (poor non-word repetition)
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what is the relationship between autism spectrum disorders and specific language impairment?
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• autism + Language Impairment (ALI) is the outcome of autistic cognition
– poor social interaction results in reduced language learning opportunities
– weak central coherence impedes learning of language in context
• but must explain how some children have an ALN (autism + ‘language normal’) profile
SLI Autism
ALI
A B
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verbal and nonverbal communication
reciprocal social interaction
restricted and repetitive
behaviours
core cognitive
deficit
executive function
social understanding
central coherence
ASD
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autistic symptoms
language impairment (standard tests of vocabulary and sentence processing)
autism: language ‘normal’ (ALN)
autism: language ‘impaired’ (ALI)
typically developing (TD)
‘specific’ language impairment (LI)
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autistic symptoms
language impairment (standard tests of vocabulary and sentence processing)
autism: language ‘normal’ (ALN)
autism: language ‘impaired’ (ALI)
typically developing (TD)
‘specific’ language impairment (LI)
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direct comparison of language phenotypes…
• allows identification of features that are ‘universal’ and ‘specific’ to ASD
• allows identification of risk factors that contribute to language impairment (common across disorders)
• allows identification of protective factors that facilitate language acquisition, despite ASD
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verbal and nonverbal communication
reciprocal social interaction
restricted and repetitive
behaviours
core cognitive
deficit
executive function
social understanding
central coherence
ASD
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• set of functions necessary for flexible, future-oriented behaviour– working memory– inhibitory control– attentional flexibility– planning
• poor executive control could disrupt language learning– difficulties with joint attention– problems inhibiting irrelevant
information to the context– problems learning rules– problems planning expressive
language
executive function
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implications• should be a strong relationship between
executive abilities and language competence– discrepant findings regarding correlations between EF
tasks and measures of verbal ability• some do: (Pellicano 2007; Liss et al. 2001)• some don’t: (B&N 2005; Landa & Goldberg 2005; Joseph et
al. 2005)• different patterns of relationship may depend in part on
which measures are used
• some studies find associations between poor EF performance and impaired language status, but not ASD status (e.g. Bishop & Norbury 2005; Liss et al. 2001) 17
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Kelly, Walker & Norbury (2013) Developmental Science
• explore eye-movement control in relation to ASD and language impairment
• ALI = autism + language impairment• ALN = autism with language ‘normal’• SLI = specific language impairment• TD = typically developing
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X
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X
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challenges• direction of causation is not at all clear:
– one alternative explanation is that language important to encode the arbitrary rules needed to succeed on EF tasks (Russell et al. 1999, Zelazo 2004)
– another is that EF and language ability are essentially unrelated, but that individuals with ASD fail to use language for self-regulation (Joseph et al. 2005)
• relationship between EF and language seen in non-autistic populations (e.g. SLI; Henry et al. 2012)
• limited investigation of the developmental relationship between EF and language (especially in ASD)
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verbal and nonverbal communication
reciprocal social interaction
restricted and repetitive
behaviours
core cognitive
deficit
executive function
social understanding
central coherence
ASD
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• tendency to focus on individual, local elements at the expense of global, holistic meaning
• explains apparent skill at solving certain visuospatial tasks
• could explain disruptions to language because need to integrate different pieces of information in context– joint attention– learning from context
weak centralcoherence
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implications• individuals with ASD, of all ages and abilities,
should be impaired at deriving context dependent meaning (Happe 1999)
– e.g. homograph task (Happe 1997)• Lucy was cutting onions. In her eye there was a tear.• Lucy was climbing fences. In her dress there was a tear.
– inferencing, resolution of ambiguous and figurative expressions
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challenges
• problems with verbal coherence are not unique to ASD– seen in virtually every other disorder where
language is impaired• good visual spatial skill and poor verbal
coherence do not necessarily go together• series of studies demonstrate that weak CC
aligns with weak verbal ability, independent of ASD status (Norbury 2004, 2005, Brock et al. 2008) 26
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weak verbal ability weak CC?
• Snowling & Frith (1986)– performance on
homograph task dependent on language ability in both ASD and Developmental Delay groups
01
23
45
67
89
SLI ALI ALN TD
Group
Faci
liata
tion
diff
eren
ce s
core
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verbal and nonverbal communication
reciprocal social interaction
restricted and repetitive
behaviours
core cognitive
deficit
executive function
social understanding
central coherence
ASD
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• failure to orient to social stimuli early in life:– reduced fixations to faces/eyes– reduced preference for child
directed speech
• decreased participation in social interactions
• poor joint attention– poor gaze following
core social deficit
poor understanding of social intention / theory of mind
disruptions to language learning / pragmatics
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implications
• all individuals with ASD should show pervasive language impairments (especially in vocabulary, which relies on use of social cues)
• should be strong relationship between measures of “socialness” and measures of language ability
• all individuals with ASD should show poor processing of social stimuli, from the earliest ages/stages
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challenges
• all individuals with ASD should show pervasive language impairments (especially in vocabulary, which relies on use of social cues)– most do, though ~25 - 43% of cognitively able
individuals demonstrate ‘normal’ language skills on standardised tests (Kjelgaard & Tager-Flusberg, 2001; Loucas et al. 2008)
– vocabulary often one of the better aspects of language in ASD (Mottron 2004)
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challenges
• should be strong correlation between measures of “socialness” and measures of language competence– Kuhl et al. (2005): toddlers with ASD who
preferred to listen to non-speech instead of child directed speech
• show decreased ability to distinguish different meaningful phonemes
• poorer scores on expressive language measures
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Norbury et al. (2009)
• Measured symptom severity and social adaptation scores in adolescents with ASD who did and did not have additional language impairments
– Social Communication Questionnaire (SCQ)– Autism Diagnostic Observation Schedule (ADOS-Module 4)– Vineland Adaptive Behavior Scales (Socialisation)
• Compared scores to adolescents with SLI
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LI ALI ALN
group
2
4
6
8
10
12
14
16
ADO
S
LI ALI ALN
group
5
10
15
20
25
30
35
Soci
al C
omm
unic
atio
n Q
uest
ionn
aire
(raw
sco
re)
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Vineland Adaptive Behavior Scales: Socialisation
16th centile
10th centile
3rd centile
LI ALI ALN
60
70
80
90
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typically developing adolescents
adolescents with autism
best social outcome
Klin et al. (2002)
attention to social stimuli
(very high-functioning)
Norbury (2009) showed viewing patterns aligned to language status (cf. Rice et al. 2012) 36
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verbal descriptions of social scenes• children with ASD will
look more at background• children with ASD more
likely to mention background items in output
• children with language impairments (ALI/LI) will produce fewer important sentence elements
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pre-speech post-speech.0000
.0500
.1000
.1500
.2000
.2500
.3000
.3500
.4000
.4500
typically developing
agentpatientcorebackground
prop
ortio
n fix
ation
pre-speech post-speech.0000
.0500
.1000
.1500
.2000
.2500
.3000
.3500
.4000
.4500
ALN
agentpatientcorebackground
prop
ortio
n fix
ation
these graphs show the proportion of viewing time to different regions of the screen before and after speakers start their utterance
we expect more looks to the agent pre-speech and then a switch to looking more at the patient after they start the utterance 38
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pre-speech post-speech.0000
.0500
.1000
.1500
.2000
.2500
.3000
.3500
.4000LI
agentpatientcorebackground
prop
ortio
n fix
ation
pre-speech post-speech.0000
.0500
.1000
.1500
.2000
.2500
.3000
.3500
.4000
.4500
ALI
agentpatientcorebackground
prop
ortio
n fix
ation
children with ALI scan the scene differently – they never prioritise looks to the agent!
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the story so far• impaired language development is not causally related
to ASD, nor does it account for variation in ASD symptomatology
• severity of ASD symptomatology does not fully account for variation in language ability
• no one cognitive theory of ASD can explain variation in language phenotype
• perhaps language impairments are not caused by autism?
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so, why is there so much variation in core language skills within the
autism spectrum?
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• ALI represents the co-morbidity of SLI and ASD– separate causal systems that are
themselves correlated.• ALI overlap is due to causal factors for SLI
being associated with those causing autism.
– same causal factor yielding different diseases (Pleiotropy)
• autism and SLI are phenotypic variants of the same set of genes (Bishop, 2003)
• should expect overlap in both directions
SLI AutismALI
A B
SLI ALI
A B C
Autism
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note: partially overlapping disorders
ASD involves impairment not seen in SLI (e.g. repetitive interests/behaviours; regression)
therefore, would not expect identical patterns of language behaviour, even on
tasks both groups find challenging, or remarkably similar developmental
trajectories43
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the way forward
• a truly developmental approach– at risk studies so children are assessed over time
• cross disorder and cross cultural comparisons• unified approach to language assessment and
characterisation of language impairment• combining behavioural, cognitive,
neurobiological evidence in same cohorts• intervention studies to test causal hypotheses
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www.pc.rhul.ac.uk/sites/lilac 45
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Kuhl (2007) model of language
SOCIALNESSSPEECH PROCESSING
perception
phonological skill
computational capacity
??????? amongst many other
things! 46
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those who develop good language skills rely on non-social processes
individual differences in non-social processes could explain variation in
language skill...
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learned 4 new words (6 exposures to each)
• three measures of learning:– recognition– naming (phonology)– defining (semantics)
• two time frames:– immediately after
learning trials– four weeks later
‘show me the kellow’48
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0
0.1
0.2
0.3
0.4
0.5
0.6
0.7
Time 1 Time 2 Time 1 Time 2
Semantic Phonological
pro
po
rtio
n o
f fe
atu
res/
ph
on
emes
co
rrec
tly
reca
lled
ASD
TD
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conclusions from this study• children with ALN very good at learning and retaining
phonological information– strong prediction that children with ALI will have additional
phonological deficits– may explain facility with text (non-social avenue to word
learning?)
• unlike peers, children with ALN do not show strong evidence of consolidating learned information (see also Henderson, Gaskell, Powell & Norbury, 2014)
– qualitative differences in ASD languagereflect difficulties integrating new information with existing knowledge
– underlies difficulties with semantic and pragmatic aspects of meaning?
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ASD (n =13) TD (n = 13) t-value p-value Cohen's d
Age (months) 86.46 85.00 1.02 0.32 0.40
Receptive
Vocabulary
(raw score)
73.54 73.85 0.08 0.93 0.03
Receptive
Vocabulary
(SS)
100.54 102.31 0.50 0.62 0.20
WASI Matrix
Reasoning
51.31 51.77 0.11 0.91 0.05
WASI
Definitions
40.00 51.23 3.05 0.006 1.73
can acquire vast store of words despite social limitations
clear qualitative differences in what they know about
words 51
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summary• single deficit models of ASD cannot explain
the wide variation in language ability that characterises the disorder
• risk factors for language impairment are likely to be shared across a number of neuro-developmental disorders
• disorder specific risk factors also operate, resulting in rich tapestry of behavioural outcomes
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inhibition
perception
phonological memory
consolidation processes
social engagement
attention control
motor skills
implicitlearning
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inhibition
perception
phonological memory
consolidation processes
social engagement
attention control
motor skills
implicitlearning
ALN
ALILI
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