Autism Spectrum Disorder

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58 Terms

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neurodiversity

used to describe full range of cognitive functions, not just ASD 

  • People who differ from the average 

  • Not abnormal or a disorder 

  • A spectrum 

But is still categorical 

  • Someone is BLANK or not 

Autism as an identity vs disorder 

  • There is human variation 

  • Acknowledge it vs seeing neurological differences as a disease/disorder 

  • Accommodation vs asking the individual to change 

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ASD Criteria

  • All 3 deficits in social communication/social interactions (current or by history)

  • 2 of 4 restrictive, repetitive patterns of behavior, interests or activities (current or by history) 

  • Must be present in early developmental period 

  • Symptoms cause clinically significant impairment in social, occupational, or other areas of current functioning 

  • Not better explained by intellectual disability or global developmental delay 

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by history

sx was there in the past  

  1. Documented in medical record  

  1. family/child can attest to it 

Chronic, life-long disorder

  1. Past experiences count towards diagnosis bc 

  1. An accommodation/service is provided -> function more effectively 

  1. Individual continues to meet criteria due to past sx -> continues to receive accommodation

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deficits in social communication/interactions (current or by history)

  • reciprocity

  • nonverbal communication

  • developing, maintaining, understanding relationships

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reciprocity

Social exchanges with other people 

  • Failure of back and forth conversations

  • Reduced sharing of interests, emotions, or affect 

  • More extreme – failure to initiate or respond to social interactions 

    • May not respond when you say their name 

may improve with age 

  • Develop ability to have a scripted conversation 

  • But difficulty with unscripted conversation 

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failure of back and forth conversation

One sided conversations 

  • Not responding to questions, but giving a speech 

Less severe 

  • Trouble joining a conversation 

  • Difficulty knowing what to say 

May try to practice conversations 

  • Unless situation has a clear script 

  • Ex. Ordering coffee 

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reduced sharing of interests, emotions, affect

Kids pay attention to the same things as others, Learn from others 

  • Early sign of ASD: Kids are not pointing to objects, not asking parent for label 

ASD: kids not seeking hug/comfort, sensory issue 

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failure to initiate or respond to social interactions

extreme reciprocity deficit

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nonverbal communication

  • poorly integrated verbal and non-verbal communication

  • abnormalities in eye contact and body language (or deficits in using and understanding gestures)

  • extreme - total lack of facial expressions

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total lack of facial expressions

extreme nonverbal communication deficit

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poorly integrated verbal and non-verbal communication

do not match

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abnormalities in eye contact and body language

may not understand someone’s tone or look them in the eyes

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developing, maintaining, and understanding relationships

disruption w parents and peers

  • Difficulties w/adjusting behavior to social context 

  • Difficulties in sharing imaginative play or making friends  

  • Extreme – absence of interest in peers 

 

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Difficulties in sharing imaginative play or making friends  

Insistence on playing by rules 

  • do not want to change the rules of a game 

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Interrater reliability in DSM5 field trials

Proposed diagnostic criteria are studied in the field 

  • When different clinicians interview the same person, are they giving the same diagnosis? 

  • Kappa varies from 0 to 1 

  • 1 is perfect agreement between raters 

ASD has best (0.69)

  • Should more diagnoses use a similar diagnostic structure as ASD? 

  • Provide examples/prototype instead of checklist 

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restrictive, repetitive patterns of behavior, interests or activities

2 of 4 required for diagnosis

  • stereotyped or repetitive movement, use of objects or speech

  • insistence on sameness, inflexible routines, ritualized verbal/non-verbal behavior

  • highly restricted, fixated interests

  • hyper/hypo-reactive to sensory input, or unusual interests in sensory experiences

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stereotyped or repetitive movement, use of objects or speech

  • motor stereotypies

  • lining up objects

  • echolalia

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motor stereotypies

Rhythmic, repetitive, predictable, but purposeless movement 

  • May have self-stimulatory or self-soothing function 

  • But function is not apparent to outsiders 

  • stimming 

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immediate echolalia

Immediate verbal repetition 

  • Of their own phrases 

  • Of others’ phrases 

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delayed echolalia

recite lines from a favorite movie they watched a day ago

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functions of immediate echolalia

  • Buy time to process and generate response 

  • Interaction – a way to be present with someone, listening 

  • Communication, expression  

  • Self-soothing 

  • Self-stimulation 

  • Form of rehearsal 

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insistence on sameness, inflexible routines, ritualized verbal/nonverbal behavior

Extreme distress at small changes, difficulty with transitions, rigid thinking patterns 

  • Where family members sit at dinner table 

  • Change may lead to emotion dysregulation, distress 

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highly restricted, fixated interests

Strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests 

  • Loves dinosaurs, every answer is about dinosaurs 

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hyper/hypo-reactive to sensory input, or unusual interests in sensory experiences

Can have both 

  • Hypo: appear indifferent to pain/temp 

  • Hyper: adverse response to specific sounds, textures (stimulation) 

    • Overwhelmed by a sensory experience 

    • Tags on clothes 

  • Unusual interest: excessive smelling or touch of objects, fascination with lights or movements 

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level 3

severity specifier

requiring very substantial support

  • extreme communication deficits

  • extreme difficulty coping with change

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level 2

severity specifier

requiring substantial support

  • marked deficits in communication

    • apparent even with supports in place 

  • difficulty coping with change

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level 1

severity specifier

requiring support

  • noticeable deficits in communication without supports in place

  • inflexibility causes interference with functioning

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with intellectual impairment

  • 33% IQ < 70 (intellectual disability) 

  • 24% 71-85 (Borderline intellectual disability) 

  • 42% >85 (average or above average IQ) 

  • 40% of girls vs 32% of boys with ASD

    • May be because girls are under identified 

    • Have to have a more severe presentation to be diagnosed 

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with language impairment

specifier

range from no speech to fluent speech

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associated with a known medical or genetic condition or environmental factor

specifier

Rett syndrome, Fragile X syndrome, Down syndrome, epilepsy, environmental exposure (valporate, fetal alcohol syndrome, very low birth weight) 

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associated with another neurodevelopmental, mental, or behavioral disorder

Note other DSM conditions 

  • ADHD  

  • behavioral and impulse-control disorders 

  • Anxiety 

  • Depression 

  • Bipolar 

  • Tics and Tourette’s 

  • Self-injury 

  • Feeding, elimination (bowel), sleep disorders 

70% have >=1 comorbid disorder 

40% have >=2 comorbid disorder 

 

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tic disorder

30%

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Tourette’s disorders

6.5%

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communication disorder

50% of those with ASD and intellectual disability are nonverbal 

  • Pronoun reversal  

  • Abnormal prosody 

  • Problems with pragmatics 

  • One-sided 

 

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pronoun reversal

communication disorder

you or she instead of I

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abnormal prosody

communication disorder

  • Tone, manner of speech 

  • Mechanical, sing songy 

  • Unusual rhythms or intonations 

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problems with pragmatics

communication disorder

  • Difficult to follow 

  • comments are tangential, out of context 

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one-sided

communication disorder

talk to vs with others

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DSM-IV

  • Autism spectrum disorder 

  • Asperger’s disorder 

  • Pervasive developmental disorder not otherwise specified (PDD-NOS) 

    • Subclinical ASP or subclinical Asperger’s 

DSM5: Now all of these are under ASD label  

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Lord et al. Multisite Study of Clinical Diagnosis of Different Autism Spectrum Disorder Diagnoses

  • 12 sites at university-based, autism expert staffed clinics 

  • Analysis of best estimate clinical (BEC) diagnosis to assess diagnostic practices 

    • Comprehensive evaluations 

    • What are the symptoms that clinicians use to differentiate between ASD and Asperger’s? 

Found site mattered more than other factors (eg. Autism symptoms (ADI, ADOS), IQ scores, demographics, adaptive behaviors (Vineland), clinician characteristics (degree, years of experience) 

  • Suggests while clinicians felt strongly that their distinctions among ASD, ASP, and PDD were meaningful, the meaning differed across sites (local norms) 

  • Shared understanding within clinic, not across sites 

 

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combined into ASD

  • Tightened criteria a little 

  • Added dimensional severity rating 

  • Collapsed to one social-communication domain 

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concern of combining into ASD

speculation: 10-40% of previously diagnosed will no longer meet criteria 

  • In reality: rate of diagnosis has gone up 

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social communication disorder

Added additional diagnosis to offset concern that people would no longer meet ASD label 

  • Similar to ASD, but without the RRBs or disruptive behaviors 

    • Subclinical autism 

    • Only have deficits in social communication/interactions 

  • Pronounce words correctly, grammatically correct 

  • BUT, problems with using verbal and nonverbal communication appropriate to context – both expressive and receptive 

 

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arguments against combining

Parents of children (self-injurious, nonverbal) who require a lot of support were concerned of public perception and policy makers  

  • Kids have heterogenous presentation 

  • Their needs vary dramatically 

  • Most functional kids become the face of ASD 

  • May lead to less resources for the kids who are less visible 

 

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prevalence

1.85% of US children have ASD

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prevalence is increasing

could be both

  • real increase

  • changes in diagnostic practices

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real increase

  • Food allergies 

  • Metabolic disorder 

  • Neurological problems due to toxins or teratogens (toxins in utero) 

  • Advanced maternal/paternal age 

    • More likely to see mutations in older parents 

    • Older moms are more likely to use IVF 

      • Hormones increase likelihood of developing autism 

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changes in diagnostic practices

  • Greater awareness, so more referrals for assessment 

  • More willingness to diagnose 

    • Less stigma 

    • More access to services 

  • Definition has broadened 

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gender

4 boys : 1 girl

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gender difference

  • Boys’ hormones may be involved in development of ASD 

  • Genetics – X-chromosome linked disorders 

  • Bishop Slate commentary about gender and diagnosis 

    • Girls are socialized different 

    • Are more effective at masking 

  • Girls’ overall stronger social and communication skills make ASD less noticeable in girls

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ethnicity

More common among Caucasian

vs African American and Latino children 

  • May be due to stigma levels, understanding, and access to services

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socioeconomic status

More common with higher SES 

  • Able to and more likely to seek services 

  • In Europe, free healthcare, same pattern is not seen 

 

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onset

Usually <2 years old 

  • Early signs – aloof, avoidant, lack of joint attention, language delays 

    • reciprocity: Check this thing out 

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1/3

have no signs until after 2, then see 

  • Lack of social skills 

  • Loss of language 

  • Increase in stereotyped behaviors 

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prognosis

no cure

a lot of variability in course

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IQ

if higher, better prognosis

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linguistic ability

predicts better later social outcomes

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social engagement

better earlier → better later