Clinical Traits:The Autism Learning Model:

Implications for Studying Etiology and Designing Treatment

Heterogeneity in the DSM-5/ DM-ID-2 Autism Spectrum: Linking Biological Traits, Clinical

Traits and Treatments

32nd ANNUAL NADD CONFERENCENov. 18, 2015

Bryna Siegel, PhD

Executive Director, Autism Center of Northern California

Professor, Child & Adolescent Psychiatry (Ret.)

University of California, San Francisco

bryna.siegel@ucsf.edu

Atypical Ontogeny versus Typical Development

Expected developmental trajectory

Influence of neuropathology

Development is increasingly constrained by neuropathology as behavioral repertoire becomes more complex.

bryna.siegel@ucsf.edu

Matrix of Ability and DisabilityExamples of How Intact Abilities Interact with Impaired Functions to Form Autistic Learning Disabilities (ALDs)

Intact Abilities (ALS)

Impaired Functions

Auditory memory Visual memory

Slowauditoryspeed

=Echolalia with low comprehension(an ALD)

Slowauditoryspeed

=Insists on routines(an ALD)

bryna.siegel@ucsf.edu

De-Constructing Symptoms of ASD

‘Matrix’ of Ability and Disability: What ‘works’ (abilities) & doesn’t ‘work’ (disabilities)

Primary, Secondary & Tertiary Classes of Symptoms

Primary Symptoms: Sensory threshold problems (e.g., auditory processing delays)

Secondary Symptoms: Successful accommodations arising in ‘Matrix’ (e.g., echolalia, represents

good auditory memory, poor auditory processing speed lowering comprehension)

Tertiary Symptoms:‘Matrix’ failures (e.g., poor auditory processing, low comprehension, poor

auditory memory, communication frustration and tantrumming)

Autistic Learning Disabilities

Diagnosis Does Not Matter As Much As Symptoms

In Studying Etiology (Marco):

Ask ‘how did the patient get that way?

In-born (primary symptom)?

In Studying Treatment (Fancy):

Ask is the symptom actually an accommodation?

Secondary (partly successful) or tertiary symptom (failed)?

The specificity and function of the symptom is more important that the diagnosis/diagnoses it goes with.

bryna.siegel@ucsf.edu

Considerations in Classifying Symptoms as Primary, Secondary or Tertiary

How do alterations in the way a child with ASD perceives, processes, stores, and retrieves information create an altered world view?

The differences in perception, processing, storage or retrieval in ASD’s vs controls are the primary disabilities

These alterations, by definition will occur in the context of intact and disabled primary processes. The resulting behavioral manifestation can be regarded as an ‘autistic learning disabilities’ (ALDs).

We can then study whether specific symptoms/ ALDs point to specific treatments?

bryna.siegel@ucsf.edu

The ALD/ALS Approach: A New Heuristic

ALD = ‘Autistic Learning Disabilities’

ALS = ‘Autistic Learning Styles’

The concept of ASDs and ALSs can be used to classify autistic alterations in perception, cognition, information-processing, motivation and expression

bryna.siegel@ucsf.edu

The Child with ASD Perceives Differently

Sensory Threshold & Modulation Problems:

Audition:

Covers Ears Appears Deaf

Tactile:

Clothes Sensitivities Diminished Pain Response

Visual:

Gaze Avoidance Visual Scrutiny

Olfactory:

Pica Gags at Smells

The Child with ASD Processes Differently

bryna.siegel@ucsf.edu

Sensory threshold differences = misrepresentation of input

Processing speed delays lead to loss of information

If what you:

Perceive ✚ Process ✚ Retain

is incomplete

‘Spongy’ understanding and

need for compensations that access

transfer of function to ‘fill in blanks’

bryna.siegel@ucsf.edu

The Child with ASD Stores Differently

‘Constructive’ memory borrows from more fully represented data sources (e.g., visual v auditory)

Retention is better if comprehension is better (problems in retention improved by better self-accommodation e.g., visual)

Example problem this can cause: Child mainstreamed above development level at risk for ‘spongy’ knowledge (e.g., rote memorization, no generalization of content)

bryna.siegel@ucsf.edu

Autistic Learning Disabilities:How Social Deficits Affect Learning

Lack of socio-emotional reciprocity=Lack of desire to please othersLow response to social reinforcers

Lack of awareness of others= Motive to please self is foremost

Instrumental learning style

Lack of social imitation= Low “incidental” learning via copying others

No drive to follow group norms

Why Should

I Care??

bryna.siegel@ucsf.edu

Autistic Learning Disabilities:How Non-Verbal Communication Deficits Affect Learning

Low comprehension of facial/ vocal cues including:

Smiles, frowns, facial expressions (guilt, shame, fear)

Tone of voice to mark emotion/ meaning of words

Low comprehension gestures/ no theory of mind: No gaze toward topic of conversation

No point to initiate joint attention to topic of interest

Knowledge base gets more ‘spongy.’

bryna.siegel@ucsf.edu

Autistic Learning Disabilities:How Verbal CommunicationDeficits Affect Learning

Receptive Language

Signal : noise problem for language ‘signal’

Language processing with poor ‘parsing’ (end/ start of words)

Overly ‘visual’ (e.g., mainly nouns) leads to partial comprehension

Expressive Language

Without ‘theory of mind’, no drive to ‘share’ ideas

Low social drive= no expression w/o instrumental motive

Oral-motor apraxia synergistic w/ low expressive drive

bryna.siegel@ucsf.edu

Autistic Learning Disabilities:How Play and Exploration Deficits Affect Learning

Lack of imagination in play=

No assimilation of experience via play

(‘small world’/ re-presentational play)

No symbolic actions linking words to abstract thinking

Stereotyped and repetitive interests=

Averse to novelty/ low curiosity

Limited learning through exploration

Repetitive interests = mental ‘down time’

bryna.siegel@ucsf.edu

Autistic Learning Styles Defined

Autistic learning styles are intact abilities automatically used to compensate for impaired abilities

By looking for autistic learning styles, we discover what works and can make more use of those intact abilities (improving on success)

bryna.siegel@ucsf.edu

Individual Differences in Compensatory Abilities:Autistic Learning Styles (ALSs)Related to Memory

Verbal Intelligence-Related

Good Auditory Memory without ‘Parsing’

(Memorizes songs, videos or books without understanding full meaning)

Performance Intelligence-Related

Good Procedural Memory (Prefers Routines)

(Anticipates exact events leading to desired outcomes)

bryna.siegel@ucsf.edu

Individual Differences in Compensatory Strengths:

Autistic Learning Styles (ALSs)Related to Motivation

Verbal Intelligence-Related

Better use of language when requesting than commenting

Performance Intelligence-Related

Good visual-motor-spatial abilities without need for language

(Does puzzles backward or upside down, draws from ‘photographic’ memory)

The Case for De-Emphasis of Diagnosis

The Autistic Learning Model was developed to have a nomenclature more useful to etiological and treatment research that a diagnosis alone

DSM-type diagnostic categories can serve as a ‘first cut’ for a research sample, or for therapy-eligibility

DM-ID does a better job for neurodevelopmental disorders as it considers how ID modifies symptom presentation

However, ID is not uniform, and symptom expression will vary by domain

The DSM-5 ASD Diagnostic Issues

When is new diagnostic nomenclature needed?

Are there implications of changes in DSM-5 for clinical care?

Are there the implications of changes in DSM-5 for research?

If not, why did we need a new DSM?

What are (some of) the politics of DSM-5 ASDs?

Do We Need New Diagnostic Criteria for ASDs?

Stated purpose of a revision to a DSM is to incorporate new research on nosology

For Research: Diagnostic Criteria Should

1) Map to etiology: Genetics/ Neuroimaging/Neurochemistry

2) Predict differential treatment responses

What there should be to support any new diagnostic nomenclature:

RESEARCH:

uniformity of population = more readily ascertained samples (E.g.: Few criteria =easier to recognize syndrome)

assurance of comparable samples= generalizability of research findings on the syndrome

What there should be to support any new diagnostic nomenclature:

CLINICAL:

If it will improve access to services

If it will short-list beneficial treatments (E.g., Fewer sx to dx, fewer sx to target)

If it will Sp of traits so it is easy to know what works for what

Are DSM-5 ASD criteria built to these specs? No

ASDs remain heterogeneous, while gene functions and brain regions are increasingly appreciated for specificity

Is this a tug-of-war between the ‘lumpers’ (DSM-5: fewer ASDs) and splitters (DSM-IV: more criteria, more kinds of ASDs?)

Diagnostic Shifting from DSM-IV to DSM-5 ASDs

DSM-IV Asperger’s disorder in Ss w/o RRBs excluded from ASD,

DSM-IV Ss w/ ADHD & ‘autistic-features, now may be ASD as primary dx

DSM-IV Ss w/ PDD,NOS w/o RRB: Now SCD & ‘off spectrum’

Slightly different cases are not ASDs…

Slightly different cases are ASD…

Effect of DSM-5 for Ongoing Research: A Logistical Nightmare

How interpretable will findings made in last 20 years be--going forward?

Research: Algorithms to map DSM-IV DSM-5?

What about AGRE, IAN, ATN and other databases?

How does DSM-5 ASD map to ICD-10/ 11 Autism Spectrum classifications?

How Did We Get Here?ASD-5 & the Politics of Autism-I

History of this problem: DSM-III DSM-III-R databases showed 35% as fn. of new defn. (Siegel & Spitzer, 1990).

DSM-IV: Further ’unexplained’ increases…

Is more of a diagnosis ‘good’ for business?

How Did We Get Here?ASD-5 & the Politics of Autism-II

in ASD most readily accounted for by APA’s own more broadly applicable criteria

Also- Addition of Aspergers

Also Flip of ID Ratio: ‘Old’ ID ratio—70:3030:70

The Politics of ASD Incidence

March 2013 (just before DSM-5), CDC says ASDs now 1:55; didn’t ‘fly’, now 1:68 is most accepted #..

Prevalence versus Incidence Studies…

The more suspected cases of DD, the more often ASD is in the differential as incidence increases.

AAP standards for screening at 18 & 24 m. when Sp is low, but fans the flames

Do we have enough ‘Autism Awareness’ yet?

Back to the Future?: Research Diagnostic Criteria (RDC)

Late 1970s-early 1980s: Concept of RDC as more reliable than clinical diagnostics (per DSM-III).

Do researchers now need their ‘own’ RDC criteria more useful for etiologic and prognostic investigations?

Arguments in Favor of RDC for Neurodevelopmental Disorders

No single criterion for any neurodevelopmental disorder is unique to that disorder; so:

How about a taxonomy by ‘family’?

Social, Linguistics, Cognitive, Sensory, Motor…

With ‘genus’’ level specificity of symptoms:

Linguistics> Receptive Language

And ‘species’ level resolution:

Receptive Language > Auditory Processing Speed

Limits to DSM-5If ASD-5 is not likely to help research,

And not likely to help better understand response to interventions,

How about a clinically descriptive taxonomy that reflects ‘behavioral’ endophenotypes—small enough observable, clinically well-characterized units--that can link to etiologies, and can be studied in the context of treatment responses…

Overlapping disorders?

Next two presentations will help you decide which is more helpful taxonomy:

Next two presentations will help you decide which is a more helpful taxonomy:Clusters of ‘primary’ disabilities?