autism exam 1

Question 1

autism spectrum disorder (ASD)

Answer 1

a neurodevelopmental disorder that is characterized by persistent deficits in social communication & interaction and excess of restrictive and repetitive behaviors;there are 5 diagnostic criteria

Question 2

social interaction & communication

Answer 2

includes social-emotional reciprocity, non-verbal communication, developing, maintaining, and understanding relationships

Question 3

specifiers

Answer 3

presence of additional diagnoses of special circumstances
-with or without intellectual impairments
with or without language impairments
-known medical, genetic or environmental factors
-other diagnoses, including neurodevelopmental, mental or behavioral
-with catatonia (abnormal movements)
-onset (regression)

Question 4

hyper-/hypo-sensitivity

Answer 4

either over-reactive or under-reactive to sensory input/experiences
-sounds
-visual stimuli
-taste
-smell
-texture
-pain

Question 5

restrictive and repetitive behavior (RRB)

Answer 5

must have 2 of the following:
-stereotyped, repetitive speech, motor movements, or object (includes motor stereotypies, repetitive use of objects, echolalia, idiosyncratic phrases)
-excessive adherence to routines & ritualized patterns of behavior (motor rituals, insistence on sameness, distress at small changes, repetitive questioning)
-restricted interests (circumscribed interests, attachment to unusual objects)
-hyper- or hypo-sensitivity to sensory input (indifference to heat/cold/pain, adverse response to sounds or textures, fascination with spinning objects)

Question 6

stereotyped

Answer 6

repetitive, rhythmic, unchanging behaviors that are not purposeful, but are predictable
-include motor movements, like hand flapping or body rocking

Question 7

social-emotional reciprocity

Answer 7

social approach, lack of back-and-forth in conversation, reduced sharing of emotions and interests, failure to initiate/respond to interactions

Question 8

non-verbal communication

Answer 8

eye contact, body language, uses of gestures, facial expressions

Question 9

diagnostic criteria for ASD

Answer 9

1- deficits in social communication and interaction
2- restrictive and repetitive behaviors
3- symptoms must be present in early childhood
4-symptoms together limit and impair everyday functioning
5- symptoms cannot be better explained by intellectual developmental disorder or global developmental delay

Question 10

core symptoms of ASD

Answer 10

impaired social communication and interaction, RRBs, impaired social-emotional reciprocity, impaired non-verbal communication, impaired relationships (making, understanding & maintaining), impaired dyadic and triadic interactions, impaired ToM, impaired emotional processing, inappropriate topic initiation & maintenance, lack of conversational “coherence”, poor conversational rapport, repetitiveness

Question 11

current statistics on incidence

Answer 11

1 in 36 children
1 in 45 adults
4 in 100 boys, 1 in 100 girls
white - 2.4%
black - 2.9%
hispanic - 3.2%
asian or pacific islander - 3.3%
82% of cases identifed by 4 years old

Question 12

what “spectrum” means

Answer 12

every individual with autism is different, and the disorder can range in severity. there is a lot of variation in the level/severity, specifiers, comorbidity, and other factors that go into autism. it is a spectrum because of the wide range of people that fall into the category.

Question 13

dyadic & triadic interactions

Answer 13

dyadic: social interaction in which 2 people attend only to each other
triadic: social interactions in which 2 people attend to the same thing

Question 14

joint attention

Answer 14

looking where someone is looking or gaining someone’s attention to point something out & looking to see if they are looking

Question 15

theory of mind (ToM)

Answer 15

ability to see from another’s perspective, infer their feelings, thoughts, beliefs, and to behave based on those inferences

Question 16

Sally-Anne test

Answer 16

a false belief test used to assess ToM
-Sally takes a marble and hides it in her basket. She then “leaves” the room and goes for a walk. While she is away, Anne takes the marble out of Sally’s basket and puts it in her own box. Sally is then reintroduced and the child is asked the key question, the Belief Question: “Where will Sally look for her marble?”
-children with autism get this wrong and say she’ll look in Anne’s box
-they cannot understand the alternative perspective that Sally was gone, Anne took it and doesn’t know that it has been moved

Question 17

echolalia

Answer 17

repeating exactly what was heard - can be immediate or delayed (can be hours or days later)

Question 18

social communication challenges at different points in development

Answer 18

-impaired dyadic interactions (typically around 2-6 months old)
-impaired triadic interactions (typically 6-12 months)
-limited eye contact (typically occurs at 2 months in dyadic)
-impaired theory of mind (typically begins by age 1 and fully developed by age 4)

Question 19

differences in typical development with deficits seen in ASD

Answer 19

typical development:
-2 months: smiles in response to smiles, holds eye gaze
-6 months: lap play, peek-a-boo, synchronize sounds & movements with others, gaze following (turn head to look where another is looking)
-12 months: joint attention

Question 20

examples of dyadic and triadic interactions

Answer 20

dyadic: making eye contact, responding to one’s name as an infant
triadic: mom and son both paying attention to toy car (IRIS twin example)

Question 21

distinguishing between responding to and initiating joint attention

Answer 21

initiating:
-child’s ability to use their gaze, gestures, pointing, sounds or words to draw another’s attention to an object or event
-child will look at object of interest and then look back at adult to learn and share enjoyment
- ex: child looking at sky, seeing airplane, and points to it, then looks at parent and back at airplane
responding:
- child follows adults lead and attends to same thing as adult
- allows child to learn from others and share enjoyment
children begin displaying joint attention skills typically at 2 months; by 12-14 months, children start to direct parent’s attention by pointing and then looking back to parent to ensure parent is looking at same thing

Question 22

examples of theory of mind

Answer 22

-Sally-Anne test is an example of ToM: understanding that Sally has a false belief of where her marble is
-a person realizes that their friend is upset because of their body language and tries to help them feel better

Question 23

emotional impairments in ASD

Answer 23

-impaired ability to recognize emotions in other people, especially negative emotions
-impaired ability to recognize complex emotions, such as guilt, pride or embarrassment
-impaired cognitive empathy and sympathy
-intact ability to experience basic emotions, but facial expressions and gestures are different

Question 24

language impairments in ASD

Answer 24

inappropriate topic initiation & maintenance
- introducing a new topic midway through a convo. w/o warning
-talking repetitively about preferred topic when interest is not shared
-not responding to questions
-repeating questions that were already answered
lack of conversational “coherence”
-failing to identify what or to whom they are talking about
- recounting events in a disconnected order
- remarks irrelevant to on-going convo.
failure to take into account where other person is coming from
-recounting story of a movie to someone who has seen it
-failure to modify convo. based on context
-making tactless or personal remarks
poor conversational “rapport”
-ignoring conversational approaches from others
-not paying attention when someone is talking to them
repetitiveness
-using favorite words, phrases or sentences regardless of context
-turning convo. to preferred topics
-repeating views they have already expressed

Question 25

two categories of RRBs

Answer 25

repetitive sensory motor stereotypes
-body movements: hand flapping, body rocking
-use of objects: lining up toys
-speech: echolalia
-self-injurious behavior: head banging, eye poking, hand-biting
insistence on sameness
-routines: clothes always put on in same order
-formulaic responses/phrases
-monologues on a favorite topic

Question 26

screening

Answer 26

use of assessments to identify who may be at risk for ASD
-not the same as diagnosing!
universal screening in the US of toddlers and young children

Question 27

diagnose

Answer 27

administered by trained professionals
-for infants/young children includes pediatricians, SLP, pediatric neurologist and child psychologist
-for older children/adults includes psychiatrist and clinical psychologist

Question 28

M-CHAT-R

Answer 28

modified checklist for autism in toddlers revised
screening tool
-high risk: score of 8-20
-asks variety of questions, like does child partake in joint attention, does child do imaginative play, does child walk, does child have increased sensitivity to stimuli
-20 questions total
-intended for children between 16-30 months

Question 29

ASQ

Answer 29

autism spectrum quotient
screening tool
- self-report questionnaire for adults
-50 questions that assess 5 domains
1: social skills
2: attention switching
3: attention to detail
4: communication
5: imagination
-rate whether agree or disagree on a 5 point scale
-scores as 32 or higher indicate a significant level of deficits; if someone scores this high, they should see a clinician

Question 30

ADOS-2

Answer 30

autism diagnostic observation schedule
diagnostic tool
-1/2 of the gold standard for diagnosing ASD
-4 modules of specific activities to be used with individuals of different ages and abilities
-activities initiated by a professional/clinician who interacts with and observes the person
-must be trained to administer and score the assessment

Question 31

ADI-R

Answer 31

autism diagnosis interview revised
diagnostic tool
-other 1/2 of the gold standard for diagnosing
topics in the ADI-R:
-family background, education, other diagnoses, medication
-behavior, in general terms
-early language
-language acquisition and any loss of language/other skills
-current functioning related to language and communication
-social, interests and behaviors
-other clinically relevant behaviors, such as hearing impairment, self-injury, epilepsy

Question 32

reasons to diagnose ASD

Answer 32

-access to resources/interventions(therapies)
-help in school (IEP/504)
-understanding person with ASD better, helps parents make sense of child
-guides expectations for individual
-helps parents find support
-facilitate communication between practitioners
-provide info. needed for services (treatments, financial)
-ensures comparability between participants in research studies

Question 33

barriers to diagnosis

Answer 33

-underrepresentation of minority and ethnic groups
-no difference in identification for individuals compared to
-lower rates among Hispanic individuals
-concern the person will be stigmatized/face stigma
-concern about overuse of diagnosis
-concern about misuse of diagnosis
-lack of awareness among pediatricians
-lack of awareness among parents
-multiple diagnoses
-ability of the person to compensate for deficits until at an older age (masking/camouflage)

Question 34

examples from the ADOS-2 for children

Answer 34

gregory video
-peek-a-boo: enjoyed it, but did not engage himself/try to play himself, or reacted with DR did it
-mom & doctor called name: did not respond w/o touch
-playing with baby doll: no interest in making play
-lack of interest in toys & no imaginative play: block as airplane, car or frog - didn’t engage, just banged block
-balloon: didn’t play typically - just swung it around, didn’t blow it up like DR did
testing joint attention, social interaction, verbal communicative skills, play, RRBs, and non-verbal communication

Question 35

challenges specific to adult diagnosis

Answer 35

-inconsistent processes
-limited services for adults, lack of resources for adults
-limited support for adults
-lack of retrospective evidence (like home videos, school/medical records, family history)
-long wait times to receive diagnosis
-adults may have masked symptoms for a long time to fit in better/camouflaging
-comorbidity/other mental health disorders
-inaccurate recall of developmental milestones
-don’t want to be diagnosed with autism b/c it feels like a loss or change of personality
-cost of getting diagnosed is high, deters many
-fear not being believed by health professionals
-difficulty finding adult autism specialists
-lack of awareness among DRs

Question 36

Leo Kanner

Answer 36

-1943
-influential in US
-used term “infantile autism”
what he saw:
-profound lack of affective contact with others
-intense resistance to change in routines
-fascination with manipulating objects but not using them for their intended function
-muteness of abnormalities of language
-superior rote memory and visual-spatial skills
-saw more severe levels of ASD than Asperger
-believed children with autism were born that way

Question 37

Hans Asperger

Answer 37

-1944
-influential in Europe
-work was not influential in US until 1981
-used term “asperger’s”
what he saw:
-severe impairment of social interaction
-odd, inappropriate behavior, rather than aloofness
-all-absorbing, narrow interests, often to the exclusion of other activities
-imposition of repetitive routines on self and others
-good grammar and vocab. but inappropriate use of speech
-tendency to engage in monologues in special interests
-limited/inappropriate non-verbal communication
-motor clumsiness

Question 38

refrigerator mother

Answer 38

term coined by Kanner originally, but mostly taken by psychologist, Bruno Bettelheim
-believed that mother’s were to blame for child’s autism
-thought mother’s who were not emotionally “warm” enough to children caused autism
-“left neatly in refrigerators which did not defrost” - from Kanner’s paper
-blames mothers who are cold, distant, and rejecting which causes children to lack a proper bond and causes autism

Question 39

psychosis

Answer 39

-mistakenly thought that childhood autism was a form of schizophrenia
-disproved by research involving children who actually had childhood schizophrenia
-childhood autism lacks delusions, hallucinations, and has a different time course for symptoms

Question 40

neurosis

Answer 40

-based in psychoanalysis and the idea that autism is caused by disturbed mother-child relationship (refrigerator mother/Bettelheim)
-disproved in the 1970’s by research showing that people with autism have abnormalities in brain structure and function

Question 41

DSM & evolution of it

Answer 41

the diagnostic and statistical manual of mental disorders
-first version came out in 1952, up to 5th version now
-DSM 3 was the first version to include the term “autism” (1980)
-DSM 3 had 4 criteria and used term “infantile autism”
-DSM 4 (1994) used 5 separate classification: autistic disorder, aspergers, PDD-NOS, childhood disintegrative disorder, & Rett syndrome
-DSM 5 (2013) has 5 criteria & is current version used today

Question 42

Bettelheim

Answer 42

-wrote book The Empty Fortress, which discussed challenges for children with autism & theory that parents caused autism in their child
-psychologist who largely believed that mothers caused autism in their children by being “cold”
-compared children with autism to being a prisoner in a concentration camp
-largely responsible for promoting popularity of (false) theory

Question 43

vaccine

Answer 43

typically a shot that inserts a dead or weakened version of a virus to the body in order to make immune system aware and prepared for virus, should person ever come in contact with it
-effectiveness of vaccines has been widely studied and verified, but still largely debated

Question 44

Andrew Wakefield

Answer 44

British doctor who started rumors when he published a dramatic study that found a connection between autism and vaccines in 1998
-ultimately was found that study was falsified and unethical in MANY ways
-but, by time people/research disproved his findings, it had already reached the public and caused lots of harm

Question 45

Brian Deer

Answer 45

an investigative journalist, who in 2004 exposed some of Wakefield’s unethical practices in study
-found that Wakefield was paid by a law firm that was representing a vaccine company
-vaccine company made a drug for measles that they wanted to become the popular drug instead of combined MMR one, so they paid Wakefield to create results that said MMR vaccine caused autism

Question 46

Wakefield’s hypothesis

Answer 46

Hypothesized that the MMR vaccine would cause severe bowel problems and regression in development that manifests as autism
-vaccine makes its way to gut, “leaks” through the guts, enters the brain, and causes autism

Question 47

evidence of bad science and fraud in Wakefield’s research

Answer 47

-was paid by company to produce results that helped them/conflict of interest
-knew that study did not prove link between autism and vaccine, but continued to report to the media that his work suggested a causal link
-results were the product of contamination in the lab - only found DNA when there should have been RNA
-co-authors took their name off research
-The Lancet retracted article
-unethical treatment of children in study
-Chadwick, who worked in Wakefield’s lab, told him that they found no measles virus present during study, but Wakefield continued to push hypothesis
-results are not replicable - other studies have proved that children with ASD are not more likely to have gut problems OR are caused by developmental problems, not GI problems
-most children in paper DID NOT have autism

Question 48

harm caused by Wakefield’s fraud

Answer 48

-drop in rates of MMR vaccine in number of different places
-people have died & become sick with disease that should be basically eradicated
-people still believe that vaccines cause autism even thought theory has been disproved by many studies
-there was widespread media coverage of the theory, so it reached and affected many people

Question 49

gluten and casein diet for autism intervention

Answer 49

-imposing dietary restrictions on a child with an ASD are only warranted if there are valid signs of the presence
of a food allergy
-most popular diet promoted as a “cure” for autism involves restricting casein and gluten from the child’s
diet
-unfounded assumption behind recommending that
casein and gluten be restricted is that the processing of these
substances causes many of the symptoms of autism
-there is no scientific evidence that casein, gluten, or any other ingested substance causes autism
-Unless a child with autism has a specific food allergy or
intolerance or a metabolic condition, it is unlikely that dietary
changes will affect them in a positive manner
-children with ASD seem no more likely to have GI difficulties than typically developing children

Question 50

genotype vs phenotype

Answer 50

genotype: genetic makeup of a person/group that provides their physical characteristics
phenotype: physical characteristics of a person/group

Question 51

MZ & DZ twins

Answer 51

MZ: identical - share 100% of genes
DZ: fraternal - share 50% of genes
-both types share a uterine environment

Question 52

copy number variation

Answer 52

-when a genetic variation occurs “in more than 1 per cent of the general population”
-variations are common and often include either deletion or duplication of a gene
-“contribute to making every individual genome unique…, thereby contributing to individual differences in physique, temperament, cognitive abilities, and so forth”
-can result in different personality types and temperament in those with autism and neurotypicals
-accumulation of variations increases risk of mental health conditions
-in ASD, evidence that 50% of the risk is from inherited variations
-some rare CNVs occur de novo and provide significant risk

Question 53

prenatal, perinatal, and postnatal environmental factors

Answer 53

prenatal: before birth
-advanced parental age (typically father, but can be either)
-prenatal exposure to thalidomide (epilepsy drug) & valproic acid (medication for morning sickness)
-maternal nutrition
-infection during pregnancy
-prematurity
-heavy pollution or exposure to pesticides
perinatal: during childbirth
-preterm delivery
-low birth weight
-birth injury/trauma
-neonatal jaundice
-low APGAR score
postnatal: after birth
-exposure to air pollutants
-exposure to pesticides
-infections
-severe social deprivation

Question 54

cerebral cortex

Answer 54

outer layer of the cerebrum
-divided into 4 lobes
-contains sulci and gyri
differences in those with ASD
-thickness, total surface area & gyrification caries from typical at different developmental stages

Question 55

gray matter

Answer 55

tissue in the brain and spinal cord that plays central role in allowing normal day-to-day functions
-made up of neurons, axons and dendrites

Question 56

neurons

Answer 56

a nerve cell
-sends and receives electrical signals

Question 57

synapse

Answer 57

place where neurons connect and communicate with each other
-when a signals reaches the end of a neuron, it must trigger the release of a neurotransmitter, which carries signal to next neuron

Question 58

cerebellum

Answer 58

largest area of the brain
-divides brain into 2 hemispheres
differences in those with ASD
-decreased grey matter (Purkinje cells)
-implicated in inhibitory control

Question 59

neurotransmitters - serotonin, norepinephrine, acetylcholine, dopamine, GABA, glutamate, & oxytocin

Answer 59

serotonin: related to digestion, body systems & cognitive function
norepinephrine: increases alertness, arousal and attention
acetylcholine: related to attention, learning and memory
dopamine: related to attention, emotion, executive function, and repetitive behavior
GABA (inhibitory) & glutamate (excitatory): related to muscle control, vision, and arousal
oxytocin: related to sexual behavior, pain perception, emotion & social bonding

Question 60

synaptic pruning

Answer 60

process where brain removes neurons and synapses that it does not need
-usually occurs around 2-10 y/o
-brain becomes more efficient by removing unneeded neurons

Question 61

current understanding of the causes of autism

Answer 61

no single cause, but understood that it is a combination of genetic and environmental factors
-many risk factors, that when combined are sufficient to cause autism, but none on their own are sufficient

Question 62

twin studies & how that informs on the causes of autism

Answer 62

twin studies have found that when one twin has ASD, the percent of other twins who have the following are:
-MZ: 60% ASD, 30% ASD traits, and 10% none
-DZ: 90% ASD traits, 10% none
shows that causes of autism are very much genetic, because twins share DNA (100-50%), but also shows that environmental factors play a role because twins share a uterine environment

Question 63

evidence for familial history of autism

Answer 63

-1st degree relatives have greater chance of having ASD or ASD traits - “broad autism phenotype”
-ASD can occur in someone whose family members show no traits, but this does not mean that genetics are not involved

Question 64

different ways genes influence autism

Answer 64

-there are many genetic risk factors
genes have a polygenic origin:
-no single individual gene variants are the cause
-cumulative variants & certain combinations implicated
-tens or hundred of factors
sources of genetic mutations in autism:
-77% unknown
-15% Mendelian disorders & other mutations
-5% rare & de novo mutations
-3% chromosome abnormalities
some genetic variants also occur in people with
-schizophrenia
-ADHD
-developmental dyslexia
-specific language impairment
types of genetic variants
-missing or reduplicated chromosomes
-individual genes missing or reduplicated
-variations on sequencing of DNA molecules

Question 65

differences in brain chemistry & structure

Answer 65

structure
-atypical neuronal connectivity in both gray and white matter
-hyper- and hypo-connectivity
-no consistent pattern
-differences in circuitry impacts social functioning & language
chemistry
-research is ongoing
-abnormalities in different neurotransmitters, such as GABA, glutamate, serotonin, dopamine, acetylcholine, and oxytocin

Question 66

endemic

Answer 66

-regularly occurring disease within an area or community
-restricted to a particular region or area and is constantly present but at manageable levels
Ex: malaria in certain regions

Question 67

epidemic

Answer 67

-a disease that occurs suddenly in a discrete population, an
outbreak
-based on speed with new cases occur rather than the number of cases
-there are more cases of a condition than you would expect, based on past numbers

Question 68

pandemic

Answer 68

-cuts across international boundaries
-lead to large-scale social disruption, economic loss, and general hardship
-spreading out of control

Question 69

prevalence

Answer 69

proportion of a population affected by a condition at a single point in time
-current prevalence of autism: 1 in 36 children

Question 70

incidence

Answer 70

number of new cases that occur in a population in a defined period of time
-not typically reported because it is difficult to determine

Question 71

factors related to increased prevalence

Answer 71

1. better awareness and diagnosis
2. earlier diagnosis
3. no longer confused with schizophrenia
4. broadened concept of “autism”
5. intellectual disability now diagnosed as autism
6. changing epidemiological methods
7. application of autism diagnosis to people who had other diagnoses (not allowed initially)