#12 Autism Flashcards

1
Q

What is autism?

A

A relatively common and diverse neurodevelopmental condition, it manifests across the lifespan and is associated with a continuum of needs and abilities.

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2
Q

What is the epidemiology of autism?

A

More common in boys (4:1), and genetic, epigenetic and environmental factors all play a role
Prevalence is 1/50
Likelihood of siblings both getting autism is 8-18%
Rates are relatively consistent across international studies (not a lot of caveats)
Prevalence estimates are steadily increasing over the past 40 years (maybe due to expanding the diagnostic criteria)

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3
Q

What are the two different perspectives on how autism is viewed?

A

Biomedical view: autism as a medical diagnosis, promote treatments, impairment results from symptoms, diagnostic language represents clinical needs
Neurodiversity/Social model: autism as an identity, remove diagnosis and references to medical classification, disability from barriers in the social/physical environment, language related to symptoms and levels of support are viewed as stigmatizing and perjorative
Both of these contribute to the CAHS Assessment on Autism

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4
Q

What is the DSM-5 criteria for ASD?

A

This is deficit based, frames differences as bad, focuses on disability
1. Persistent deficits in social communication and interactions by ALL of the following: deficits in social reciprocity, non-verbal communication for social interaction, developing relationships appropriate to developmental level
2. Restricted/repetitive patterns of behaviour/interests/activities that manifest as TWO of the following: repetitive speech/motor movement/use of objects, excessive adherence to routines/ritualized patterns of behaviour, restricted/fixated interests, hyper or hypo reactivity to sensory input or unusual sensory interests

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5
Q

What is the simplified version of the DSM-5 criteria for autism?

A

Social communication (need 3/3 deficits)
Interests, preferences, and sensory features (need 2/4 deficits)

brackets indicate what is necessary for diagnosis

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6
Q

What are the three necessary social communication features of autism?

A

Deficits in:
1. Social-emotional reciprocity: the ability to tailor/adjust social behaviour across diversity of partners/contexts
2. Non-verbal communicative behaviours: socially directed, multiple modes coordinated, adjustment to context, fluency/effort
3. Developing and maintaining relationships: within and outside family, understanding different types of social relationships and what is expected in each, friendships

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7
Q

What are the three steps in making an autism diagnosis?

A

General developmental surveillance
Autism-focuses surveillance
Diagnostic assessment

Interventions can be given on each of these steps

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7
Q

What are the unique features of the DSM-5 compared to previous criteria?

A

Uses diagnostic qualifiers, instead of subtypes (using language/intellectual ability, rather than Aspergers)
Severity (in each domain) relates to level of support needed
Flexibility in age on onset: no minimum age of diagnosis therefore you can diagnose older youth and adults

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8
Q

What are the interests/preferences aspects of autism?

A

Intense interests (focus, duration, impact)
Repetitive speech, movement or use of objects (scripted language, toys, motor)
Preference for sameness, specific routines/rituals (reactions to small changes)
Reactivity to sensory environment (sensations sought or avoided, threshold and intensity of reaction, adaptations may be needed)

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9
Q

What are some signs of autism in the first 18 months of life?

A

Not orient to name, no babbling, no eye contact, social interest and affect is off, absent social referencing, transitions are difficult, insistence on a particular object, atypical sensory behaviour, and engagement of attention

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10
Q

What are the four features that are considered “best practice” in autism diagnosis? Why are these the best?

A

Determine definitive diagnosis
Explore co-occuring conditions (that may overlap with autism)
Determine adaptive function (strengths, challenges, interests)
Gather sufficient information to inform about treatment planning

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11
Q

What are the steps in an autism assessment?

A

Gather a structured developmental and medical history (initial concerns, what others tell docs, developmental course, DSM-5 autism features, medical issues, family and psychosocial history)

Structured observation of social, communication, and play-related behaviours

Developmental context (assessment of language, cognitive and adaptive skills)

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12
Q

What are the two pathways to diagnose autism?

A

community model: collaborative/virtual team, less complexity, ongoing mentorship
specialty team: multi-disciplinary, more complexity, consults as needed

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13
Q

TRUE OR FALSE: Autism is diverse, manifests across lifespan, across many ethnicities, across sexes and gender, and across a continuum of language and intellectual abilities

A

TRUE (although girls and women may be underidentified)

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14
Q

What are four distinct patterns of brain development?

A

Acceleration in brain growth to age 2-3 years (starts postnatally)
Neural connectivity altered
Neuropathological findings
Pattern of brain activation with social perceptual tasks (decreased activation of fusiform gyrus during facial recognition, less amygdala activation and poorer performance on tasks requiring judging facial emotion)

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15
Q

How is accelerated brain growth in ASD characterized?

A

Increased head circumference and brain volume most consistently replicated (macrocephaly in 20-30%)
Recent studies indicate a post-natal onset (show increased cortical surface area rather than cortical thickness, at or below average head size at birth and then rapid growth)

16
Q

What are some white matter differences in autism?

A

White matter is disproportionately enlarged relative to gray matter, and this increase is primarily found in subcortical areas and in the origins/terminations of projection/sensory fibers
Corpus callosum is abnormally small
Increased local and reduced distal connectivity (fits with the central coherence theory of autism and enhanced local processing, which states that autistic people pay closer attention to detail)

17
Q

What do neuropathological studies reveal about autism?

A

Abnormalities of the cerebellum (reduced Purkinje cells)
Limbic system abnormalities (small and densely packed neurons in limbic regions, including amy, hippo, entorhinal)
Findings about neuronal numbers, densities and volumes are variable from many studies
Neuroinflammation: microglia release proinflammatory cytokines in ASD in select brain regions, and due to this, cortical minicolumns are narrower and more numerous, with greater neuronal density
Association between autism and autoimmune disorders in family members

18
Q

What are 3 key points about genetic contributions to autism?

A

Twin studies show higher concordance in mono than di twins therefore suggesting a genetic involvement
Meta-analysis of twin studies shows that autism is among the most heritable neurodevelopmental conditions, and shared environment does not influence rates of autism, but does contribute to expression of broader spectrum of traits
Role of both common and rare genetic variants (including syndromic forms of autism)

19
Q

How are the genetics of autism complicated?

A

Over 100 genes involved, genes are generally not unique to autism and are involved in other neurodevelopmental conditions, the genes have roles in neuronal communication and gene expression
Clinically there are high rates of co-occurring NDD (like ADHD)

20
Q

How does genetic testing inform “precision health” in autism? (3)

A

Informs medical management and care pathways, refines familial recurrent risk, facilitates pharmacological intervention.
OVERALL make more informed decisions about the care of autistic people

21
Q

What are some factors associated with autism rates? (5)

A

Congenital viral infection, prenatal medication exposure, pregnancy/birth factors (prematurity, complications, stressors), parental age, some preliminary evidence for environmental toxins (pesticides)

22
Q

What are some investigations that are recommended be done routinely for people with autism? (3)
What are some other considerations?

A

Audiology, molecular testing for fragile X (often assoc with autism in boys), and clinical microarray (for minor genetic variance)
Other considerations: ferritin, TSH, CK, lead, metabolic testing, EEG, neuroimaging

23
Q

What are some indications that an EEG should be performed for autism? Is it acceptable?

A

All children with clinical seizures have prevalence
Children with regression of development, in the absence of clinical seizures
CONCLUSION: EEG not justified in children with ASD and regression, does not alter management of the condition

24
Q

What are some indications that neuroimaging should be performed for ASD?

A

Not usually done
Some studies show increased rates of CNS structural abnormalities in ASD
Possibly more common in monogenic forms of ASD, but they are non-specific and non-diagnostic
ONLY INDICATED WITH SPECIFIC COMORBID DIAGNOSIS OR LOCALIZED FINDINGS