Autism Spectrum Disorders Flashcards

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1
Q

Define autism.

A

Biologically based neurodevelopmental disorder

Impairments in two domains

  1. deficits in social communication and social interaction
  2. restricted repetitive patterns of behavior, interests, and activities
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2
Q

What are the social communication criteria for autism spectrum disorders?

A

Persistent Deficit Social Communication (must have all THREE)

  1. Lack of social/emotional reciprocity
  2. Marked deficits in nonverbal and verbal communication used for social interaction
  3. Failure to develop and maintain peer relationships appropriate to developmental level
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3
Q

What are the behavioral criteria for autism spectrum disorders?

A

Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO:

  1. Stereotyped motor movements, use of objects or speech.
  2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or non verbal behaviors
  3. Highly restricted, fixated interests that are abnormal in intensity or focus
  4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment
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4
Q

What are examples of lack of social emotional reciprocity in autism spectrum disorders?

A

Lack of the following:

  • Spontaneously point at things around them just to show you things
  • Show things that interested them to engage your attention
  • Shared enjoyment with others.
  • Picking up on social cues and responding positively to others.
  • Comfort others if sad or hurt
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5
Q

What are examples of lack of verbal/nonverbal communicative behavior?

A

Lack of the following:

  • Varying facial expressions
  • Eye Contact
  • Gestures: nodding head and using hands
  • Reciprocal smile
  • To and fro conversation that involves taking turns and building on what you have said
  • Talking just to be friendly
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6
Q

What are examples of lack of developing & maintaing peer relationships?

A

Lack of the following:

  • Reciprocal Friendships
  • Act differently in different contexts
  • Copy others in play
  • Joining in on social games
  • Play pretend or make believe games
  • Play imaginative games with another child in such a way that you could tell that patient each understood what the other was pretending
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7
Q

What are examples of stereotyped or repetitive most or movements in patients with ASD?

A

At least 2:

  • Odd phrases
  • Invents/Makes up words
  • Metaphorical ways of saying things (saying hot rain for steam)?
  • Echolalia => saying the same thing in the same way repetitively
  • Stereotyped mannerisms (hand flapping, finger flicking, spinning, bouncing, etc.)
  • More interested in parts of a toy or an object
  • Taking toys apart or lining them up.
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8
Q

What are examples of insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or non verbal behaviors?

A

At least 2:

  • Rituals/routines (ex. need to take same route, need to eat the same thing)
  • Rituals that insist others go through
  • Extreme distress with small changes in routine or difficulties with transition
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9
Q

What are examples of highly restricted, fixated interests that are abnormal in intensity or focus?

A

At least 2:

  • Interest that preoccupies her/him and might seem odd to other people (traffic lights, drainpipes, or timetables)
  • Special interests that are unusual in their intensity but otherwise appropriate for their age and peer group (trains, dinosaurs)
  • Objects (other than a soft toy or comfort blanket) that patient had to carry around
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10
Q

What are examples of hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment?

A

At least 2:

  • Negative response to certain sounds or textures
  • Excessively smell or touch things
  • Visual fascination with lights or movement
  • Indifferent to pain/temperature
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11
Q

What are the major criteria of Autism spectrum disorder?

A
  • The symptoms must impair function
  • The symptoms must be present in the early developmental period.
  • Symptoms are not better explained by intellectual disability or global developmental delay
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12
Q

What is social communication disorder?

A
  • Difficulties with social use of communication or language
  • Not a variant of ASD
  • SCD has an absence of restricted and repetitive patterns of behavior
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13
Q

What is the prevalence of autism spectrum disorders in the U.S. ?

A
  • 1:68 births in the U.S.

- International rates: average prevalence rate of 1%-2.6%

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14
Q

What are the major risk factors for autism spectrum disorder?

A
  • Boys 5x&raquo_space; girls (5:1).
  • Increased risk with increasing parental age
  • Pre-term babies (Born prior to 26 weeks)
  • Genetics (About 15% of cases caused by disorders of known genetic mechanism)
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15
Q

What are the genetic predispositions in a family?

A
  • 1 child with ASD: 20% recurrence risk (RR)
  • Multiple siblings with ASD 32.3% RR
  • Twin studies
    • Identical twins: > 70% RR
    • Fraternal twins: 20% RR
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16
Q

What are the primary neurological findings in autism spectrum disorders?

A

Neuroanatomical/Neuroimaging Findings:

  • Early brain overgrowth in first 2 years of life
  • Differences in connectivity b/t frontal and parietal lobes
    • Overreliance on processing details
  • Differences in “empathy circuit”
  • Increased cerebral volume
    • Gray and white matter
    • Enlarged ventricles
17
Q

What diagnostic assessments are done in suspected cases of ASD?

A
  • Diagnostic interviews
  • MRI
  • Metabolic testing
  • Genetic Testing
    • DNA probe for Fragile X
    • Chromosomal Microarray
  • Testing for mutations in the PTEN gene
    • ASD and macrocephaly
  • EEG
    • Clinical suspicion of seizure disorder
    • Regression
18
Q

What are major comorbidities in ASD?

A
  • 38% of people with ASD have an intellectual disability
  • 20-30 % of people with ASD have a seizure disorder
  • 25% of people with isolated ASD have head circumference greater than the 97th percentile
    • ASD and macrocephaly may have mutations in the PTEN gene, placing them at risk for hamartomatous tumor syndromes
  • 15% of people with ASD have microcephaly
  • 10-30% of people with ASD have significant irritability
  • 40-59% of people with ASD also meet criteria for ADHD
  • 85 % of people with ASD are unemployed or underemployed.
19
Q

What effect does ASD have on mortality?

A
  • Moderately reduced life expectancy

- Expected number of deaths 2-3 times higher

20
Q

What are therapeutic treatment options for ASD?

A
  • Individualized approach given heterogeneity
  • Communication skills
  • Speech and Language Therapy
  • Occupational Therapy
  • Physical Therapy
  • Functional academics
  • Therapies
21
Q

What types of drugs are generally used in ASD?

A
  • SSRIs
  • Atypical Antipsychotics
  • Stimulants
  • Alpha 2 Adrenergic Agonists (Clonidine & Guanfacine)
22
Q

What symptoms are targets of ASD pharmacology?

A
  • Aggression/Irritability
  • Hyperactivity/Inattention
  • Repetitive and Stereotyped Behaviors
  • Other comorbid psychiatric disorders (ex. Anxiety, depression, etc.)
23
Q

What drugs are FDA approved for irritability in Autism?

A
  • Risperidone
    • 5-16 yo, low dose ( 0.5-2.5mg/day)
  • Aripiprazole
    • Children 6-17 y.o. dosed at 2-15 mg/day
  • Risperidone is cheaper but also causes weight gain
24
Q

What drug regimen helps decrease stereotypic behavior, hyperactivity, and noncompliance?

A
  • topiramate + risperidone
25
Q

What is the first line treatment for ADHD in children with Autism spectrum disorders?

A

Methylphenidate first line treatment

- Watch for irritability

26
Q

What are other treatments for ADHD in autism?

A
  • Alpha 2 agonist (clonidine and guanfacine)

- Atomoxetine

27
Q

What drugs are used in repetitive and stereotypic behaviors in individuals with ASD?

A

SSRIs:

  • Citalopram, fluoxetine and fluvoxamine: NO significant difference compared to placebo in children
  • Fluoxetine and Fluvoxamine: significant difference in adults
  • Aripiprazole and Risperidone are more effective than placebo
28
Q

What drugs show “promise” for core social impairment in ASD?

A
  • Oxytocine
  • D-cycloserine
  • Arbaclofen