Autism Spectrum Disorder

Question 1

What are the characteristics of autism?

Answer 1

neurodevelopmental disorder

emerging in infancy

onset peaks in early childhood

broad range of impairment and intellectual disability

Question 2

What are the persistent deficits in social communication and interaction seen in autism?

Answer 2

social-emotional reciprocity

non-verbal communication

developing, maintaining, and understanding relationships

Question 3

What are the restricted and repetitive patterns of behavior in autism?

Answer 3

stereotyped or repetitive motor movements

inflexible adherence to routines

restricted and fixated interests

hyper or hypo-reactivity to sensory input

Question 4

How is autism spectrum disorder described in the DSM-V?

Answer 4

DSM-V is the first edition to characterize autism as a true spectrum disorder, condensing many previous categories of developmental disorders

Question 5

What are the DSM-V categories of autism spectrum disorder in the DSM-V from minimal support to very substantial support?

Answer 5

autistic savant

pervasive developmental disorder (NOS)

Asperger’s syndrome

Autism

autistic disorder

childhood autism

infantile autism

childhood disintegrative disorder

Question 6

What are the disorder associated with autism spectrum disorder in the DSM-V in order from minimal support to very substantial support?

Answer 6

Fragile X syndrome (female heterozygous)

Fragile X syndrome (male)

Rett syndrome

Question 7

What are the deficits in social-emotional reciprocity in children with ASD?

Answer 7

little initiation of social interaction

absence of sharing of emotions

reduced or absent imitation

language use (if present) restricted to requests rather than commentary or conversation

Question 8

What are the deficits in social-emotional reciprocity in adults with ASD?

Answer 8

difficulty processing social cues

struggle in novel social situations

Question 9

What are the deficits in non-verbal communicative behaviors in children with ASD?

Answer 9

reduce or absent eye-contact

impaired joint attention: pointing or following pointing, showing or bringing to share interest

Question 10

What are the deficits in non-verbal communicative behaviors in adults with ASD?

Answer 10

compensatory social behaviors

wooden or exaggerated body language

poor integration of eye contact, gesture, posture, facial expressions

Question 11

What are the deficits in developing and maintaining relationships in children with ASD?

Answer 11

absent or reduced social interest

lack of shared and/or imaginative play

insistence on play by fixed rules

Question 12

What are the deficits in developing and maintaining relationships in adults with ASD?

Answer 12

struggles with situational differences in appropriate behaviors

struggles with language use: irony, white lies, sarcasm

preference for solitary activities

“incomplete” friendships: one-sided relationships, friendships solely based on s shared interest

Question 13

What are repetitive behaviors in ASD?

Answer 13

vary according to age and ability

simple motor stereotypes: hand flapping, finger flicking

repetitive use of objects: spinning coins, lining up toys

repetitive speech: echolalia, use of “you” in self reference

ritualized patterns of behaviors: pacing, repetitive questioning

adherence to routines/resistance to change: distress at small changes, insistence on rules, rigidity in thinking

restricted and fixated interests: child preoccupied with vacuum cleaners, adults spending time writing out timetables

fascinations or aversions related to sensory input: aversion or fixation to sounds, smells, tastes, or textures

Question 14

What are the associated features of ASD?

Answer 14

intellectual impairment (>60%)

language impairment

motor deficits

self-injury

anxiety and depression in adults

seizures (25%)

Question 15

What are the DSM-V specifiers of ASD?

Answer 15

severity: graded from 1 (requiring support) to 3 (requiring substantial support)

accompanying intellectual impairment

associated with a known medical condition or environmental factor: Rett, Fragile X, or down syndromes, epilepsy, fetal alcohol syndrome, valproate exposure

Question 16

What is prevalence of autism?

Answer 16

higher prevalence in males (2:1 for ASD or 4:1 for Asperger’s)

current estimates range from 0.2-1.4% (1 in 68 in US data)

oft-quoted “historical” prevalence of ASD is 0.04% (4 in 10,000)

Question 17

What are the two hypotheses to explain observed increases in rates of ASD?

Answer 17

rates of autism are increasing due to the influence of an as yet unidentified environmental factor

diagnoses of autism are increasing due to increased awareness, surveillance, and therapeutic support

Question 18

What is the vaccine hypothesis of ASD?

Answer 18

diagnosis of autism have increased since the introduction of the measles-mumps-rubella vaccine in 1971

age of appearance of autistic symptoms correlates with age of vaccination

Question 19

What is the controversy of the vaccine hypothesis?

Answer 19

exhaustive meta-analyses demonstrate no changes in rates of autism relating to MMR

Wakefield was shown to have multiple conflicts on interest, manipulated evidence, and broke rules of ethics in his research

study retracted partially 2004, fully 2010

Wakefield prosecuted for serious professional misconduct and struck off the UK medical register

Question 20

What is the gastrointestinal hypothesis of ASD?

Answer 20

gastrointestinal problems associated with dietary gluten have been proposed to contribute to development of autism

open-label studies promoting gluten-free diets for autistic patients have shown improvement of symptoms

specific GI problems are not identified as a common comorbidity in children with autism: rates comparable to the general pediatric population

testing for general gluten-sensitivity is not available: studies examining celiac disease show no apparent interaction with autism

the only blinded study of gluten tolerance showed no relationship between improvement in autistic symptoms and gluten intake

Question 21

What is the diagnostic hypothesis of ASD?

Answer 21

criteria for a diagnosis of autism have been redefined several times since 1960s

rates of autism are comparable across cultural and international borders

rates of ASD among adults (including those born before 1971) are comparable to children

increased rates of autism in the US from 1994-2003 correlate with declines in other diagnostic categories (e.g. mental retardation)

retrospective analyses using current diagnostic criteria on historical datasets suggest comparable rates

availability of services and public awareness (e.g. de-stigmatization) have helped increase diagnoses

Question 22

What is the onset and development of ASD?

Answer 22

autism is usually diagnosed by 3 years of age: prospective studies show deficits in social responsiveness and communication are observable by 6-12 months

regression in ~25% of ASD cases: absent in Asperger’s

characterized by delays in development, with varied outcomes

not progressive beyond developmental periods

often fairly responsive to behavioral interventions: early intervention improves treatment efficacy

Question 23

What are the common psychiatric co-morbidities of ASD?

Answer 23

anxiety

depression

obsessive-compulsive disorder

Question 24

What are the common psychiatric co-morbidities in parents of children with ASD?

Answer 24

anxiety

depression

Question 25

What are the historical perspectives on ASD?

Answer 25

intellectual disabilities have been aggressively persecuted

ancient Spartans threw “defective” babies from a cliff

British mental deficiency act (1913) placed those with mental retardation into custodial care

US supreme court (1927) upheld forced sterilization for mental retardation

Alberta sexual sterilization act (1928) amended in 1937 to allow sterilization without consent for those deemed mentally defective (until 1972)

Question 26

What is the “refrigerator mother” theory of ASD?

Answer 26

Leo Kanner, who first described autism in 1943, put forward the idea that autism was affected by maternal behaviors

Bruno Bettelheim popularized the idea that autism was caused by mothers who did not communicate properly and withheld affection from their children in the 60s-70s

Bernard Rimland proposed a neurological basis for autism in his 1964 thesis and led the foundation of the Autism Society of America

Question 27

What is the empathizing brain?

Answer 27

drive to identify another’s thoughts and emotions

prediction of behavior of individuals

involves speculation about affective states

Question 28

What is the systemizing brain?

Answer 28

drive to analyze variables and construct systems

predict behavior of systems

detail/process oriented

Question 29

What is the “male brain theory” of autism?

Answer 29

balance between empathizing and systemizing define the stereotypic gender differences

female (E > S)
male (S > E)

autism (S&raquo_space; E)

Question 30

What are the genetic causes of autism?

Answer 30

heritability estimate up to 90%

20-50x increased risk of a second child having autism

60-90% concordance in monozygotic twins

10% concordance in dizygotic twins

Question 31

What are the specific genetic syndromes that cause autism?

Answer 31

Fragile X syndrome

Rett syndrome

tuberous sclerosis

duplications at 15Q1-Q13

Question 32

What are the environmental causes of autism?

Answer 32

fetal alcohol exposure

fetal valproate exposure