Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD)

Presentation by Benson Munyan

Autism Spectrum DisorderThe Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5; American Psychiatric Association, 2013) defines Autism Spectrum Disorder as:

• Persistent impairment in reciprocal social communication and social interaction.

• Restricted, repetitive patterns of behavior and interests.

• Symptomology present from early childhood and restricts everyday functioning.

The New Spectrum• Former Diagnosis falling into ASD:– Early Infantile Autism– Childhood Autism– Kanner’s Autism– High-Functioning Autism– Atypical Autism– Pervasive Developmental Disorder NOS– Childhood Disintegrative Disorder– Asperger’s Disorder

APA 2013

Historical DiagnosisDSM-I & DSM-II

-- No term of Pervasive Developmental Disorder

DSM-III-- Pervasive Developmental Disorders (PDD)

-- Childhood Onset PDD, Infantile Autism, Atypical Autism

DSM-III-R-- Pervasive Developmental Disorders (PDD)

--PDD-NOS, Autistic Disorder

Historical Diagnosis (cont.)DSM-IV

--Pervasive Developmental Disorders (PDD)

--PDD-NOS, Autistic Disorder, Asperger Disorder, Childhood

Disintegrative Disorder, Rett syndrome.DSM-IV-TR

--Same Diagnosis. Corrected text for PDD-NOS

DSM-V ASD Criteria (299.00)• A. Persistent deficits in social communication and social interaction across

multiple contexts, as manifested by the follow, currently or by history (Not exhaustive).

1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.

2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.

3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends, to absence of interest in peers.

APA 2013

DSM-V ASD Criteria (299.00)• B. Restricted, repetitive patterns of behavior, interests, or activities, as

manifested by at least two of the following, currently or by history (Not Exhaustive).

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases).

2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior. (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).

3. Highly Restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement.

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DSM-V ASD Criteria (299.00)• C. Symptoms must be present in the early developmental period (but may

not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life.

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

• E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.

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Specifications upon Diagnosis• Specify IF:– With or without accompanying intellectual

impairment.– With or without accompanying language

impairment.– Associated with another neurodevelopmental,

mental, or behavioral disorder.– With catatonia.

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Severity Specifications• Criteria “A” & “B” should be paired with a

severity specification.Level 1 “Requiring support”

Without supports in place, deficits in social communication cause noticeable impairments.

Level 2 “Requiring substantial support”Marked deficits in verbal and nonverbal social communication

skills; social impairments apparent even with supports in place.

Level 3 “Requiring very substantial support”Severe deficits in verbal and nonverbal communication skills

cause severe impairments in functioning.APA 2013

Prevalence• Currently prevalence rate is approx. 1%

• Unknown if increase is due to actual increase in rate of disorder or simply better detection and diagnosis.

(APA 2013)

Biological Factors

Genetics:

Heritability estimates range from 37% - >90% based on concordance studies.

~15% of cases are known to be associated with a genetic mutation, although it is not fully penetrant.

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OnsetSymptoms generally recognized between ages of 12-24 months, depending on severity (APA, 2013)

- Losses of language or social skills.- Gradual or Rapid deterioration.

- May be confused with childhood disintegrative

disorder.- RED FLAG

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Onset (Cont.)• Other early behavioral features:– Lack of interest in social interaction– Developmental plateaus or regression

• More severe behavioral changes:– Loss of self care– Toileting– Motor Skills

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Onset (Cont.)Example Symptoms:• Odd play patterns (Carrying toys but not

playing with them).

• Unusual communication patterns (Knowing alphabet, but not responding to own name).

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Duration• ASD is not degenerative.

• Only a minority of those with ASD live and work independently during adulthood.

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Risks and Prognosis• Prognosis’ are best established in relation to

the presence or absence of intellectual disability and/or language impairment.

• E.g., functional language by age 5 is a good sign.

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Functional Impairment• Lack of social functioning, leading to;• Hampered learning.– Particularly learning through social interaction and

communication.• Inflexible routines / Aversion to change.• Sensory sensitivity.• Low adaptive skills.• Difficulty establishing independence.

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Comorbidity• Frequently associated with intellectual

impairment and structural language disorder.

• 70% with ASD carry another diagnosis.

• 40% with ASD may carry more 2 or more concurrent diagnoses.

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DSM-5 Model

Beyond DSM-5

Biological Factors

Biological Factors

• Advanced age at birth.

• Maternal Prenatal Medication use.

• Gestational Diabetes.

• Mother born abroad.

Parental Age & HealthThe following were associated with a elevated risk of autism.

Gardener, Spiegelman, & Buka (2009)

Biological FactorsPrenatal StressKinney et al (2008) found that prenatal exposure to stressful life events is associated with significantly higher risks for ASD.

• Human and Animal Models

• Produced:- Abnormal postnatal behaviors consistent with core ASD

symptomology.- Abnormalities that have elevated prevalence among those

with ASD, such as;- Learning Deficits- Seizure Disorders- Low Postnatal Stress Tolerance

Biological FactorsIn Utero: InfluenzaCiaranello & Ciaranello (1995) suggest that the prinicipal non-genetic cause of autism is prenatal viral infection.

Associated with neurophysiologicaldeficits which have not yet beenlocalized or clarified.

Neuronal Migration, Maturationsynaptic capacity may be productiveareas of research.

Biological FactorsIn Utero: Cytomegalovirus:Human Herpesvirus-5 (HHV-5)

Activates mother’s autoimmune Response (Patterson, 2009).

Cytokenes may act on plecenta.

Results in immune disregulation.

Biological FactorsLeptin is a 16-kDA protein hormone that influences regulation of energy intake and use.

Leptin has been suggested as having a role in stress response (Heiman, Ahima, Craft,Schoner, & Flier (1997).

Ashwood et a., (2008) determined that Leptin levels were significantly higher inChildren diagnosed with Autism than in typically developing non-ASD controls. Specifically, subjects with clinical phenotypes of early onset.

Leptin is able to cross the blood brain barrier due to active transport.

It is currently unknown if altered Leptin levelsare neuropathological determinants.

Biological Factors

Responsible for intracellular calcium signaling, which is important in synaptic development.

Absence of ATP2B2 linked to defects in vestibular and auditory system.

May be a predisposing gene for autism.

ATP2B2

Yang et al (2013)

Environmental Factors

Environmental FactorsNeurotoxic chemical exposure either prenatal or postnatal may play a roll in the development of ASD.

Chemicals include:• Lead• Methylmercury• Polychlorinated Biphenyls (PCBs)• Arsenic• Manganese• Organophosphate Insecticides• DDT• Ethyl Alchohol

Over 200 chemicals are known to be neurotoxic. Over 1000 have not been evaluated.

(Landrigan, 2010)

Theoretical Model

Assessment

Assessment

Gold Standards: The ADOS and ADI-R

Autism Diagnostic Observation Schedule – Generic (ADOS-G)

• Semi-Structured, Standardized Assessment of social interaction, communication, play, and imaginative use of materials.

• Goal is to elicit spontaneous behaviors in a standardized context.

• Excellent IRR, Internal Consistency, and test-retest reliability.

(Lord et al, 2000)

ADOS-G

(Lord et al, 2000)

ADOS-G

(Lord et al, 2000)

Example of ADOS

ADI-R• Composed of 93 items.• Respondents are caregivers.• Utilizes DSM-IV and ICD-10 Criteria• Duration: 2 Hours• Three Subscales:– Communication, Social Reciprocity, and Restricted,

Repetitive behaviors.

Best Practices• Psychologists need to be well trained.• Use Multiple informants.• Family members are key parts of evaluation.• Do not rely on screeners.• Provide follow-up services.

Intervention• IDEA: Schools must provide services to

children with disabilities.• Least Restrictive Environment• Educational placement should be based on

evidence based evaluations.

Intervention• Target areas for intervention.

Social skillsLanguage (Nonverbal communication)Flexibility in Social InteractionMotor SkillsAppropriate Behavior

Applied Behavior Analysis (ABA)• Used in Autism intervention since the 1970s.• Used to systematically modify behavior.• Has shown significant positive benefits.– Increase in functional skills and cognitive

performance.– Decrease in Autistic symptoms.

ABA

The process of ABA is explained in the book, Let me hear your voice.

(Somewhat analogous to The Center Cannot Hold.)

ReferencesAmerican Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). http://dx.doi.org/10.1176/appi.books.9780890425596.910646

Ashwood, P., Kwong, C., Hansen, R., Hertz-Picciotto, I., Croen, L., Krakowiak, P., … Van De Water, J. (2008). Brief report: plasma leptin levels are elevated in autism: association with early onset phenotype? Journal of Autism and Developmental Disorders, 38, 169–175.

Ciaranello, A. L., & Ciaranello, R. D. (1995). The neurobiology of infantile autism. Annual Review of Neuroscience, 18, 101–128. Retrieved from 10.1146/annurev.ne.18.030195.000533

Gardener, H., Spiegelman, D., & Buka, S. L. (2009). Prenatal risk factors for autism: comprehensive meta-analysis. The British journal of psychiatry : the journal of mental science, 195(1), 7–14. doi:10.1192/bjp.bp.108.051672

Heiman, M. L., Ahima, R. S., Craft, L. S., Schoner, B., Stephens, T. W., & Flier, J. S. (1997). Leptin inhibition of the hypothalamic-pituitary-adrenal axis in response to stress. Endocrinology, 138(9), 3859–63. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9275075

Hyman, S. L., Arndt, T. L., & Rodier, P. M. (2006). Environmental agents and autism: Once and future associations. NEUROTOXICITY AND DEVELOPMENTAL DISABILITIES. Retrieved from http://ezproxy.net.ucf.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=edswss&AN=000234420900005&site=eds-live&scope=site

Kinney, D. K., Munir, K. M., Crowley, D. J., & Miller, A. M. (2008). Prenatal stress and risk for autism. Neuroscience and biobehavioral reviews, 32(8), 1519–32. doi:10.1016/j.neubiorev.2008.06.004

Landrigan, P. J. (2010). What causes autism? Exploring the environmental contribution. Current opinion in pediatrics, 22(2), 219–25. doi:10.1097/MOP.0b013e328336eb9a

Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., … Rutter, M. (2000). The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. Journal of autism and developmental disorders, 30(3), 205–23. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11055457

Patterson, P. H. (2009). Immune involvement in schizophrenia and autism: etiology, pathology and animal models. Behavioral brain research, 204(2), 313–21. doi:10.1016/j.bbr.2008.12.016

Yang, W., Liu, J., Zheng, F., Jia, M., Zhao, L., Lu, T., … Wang, L. (2013). The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population. PloS one, 8(4), e61021. doi:10.1371/journal.pone.0061021