Autism Spectrum Disorder--DSM + Guidelines (2014) Flashcards

1
Q

How many criteria are there for ASD

A

5

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2
Q

How many elements are there in criterion A for ASD (all of which must be present)

A

3

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3
Q

what is criterion A for ASD

A

persistent deficits in SOCIAL COMMUNICATION and social INTERACTION across multiple contexts, as manifested by ALL of the following, currently or historically:

  1. deficits in SOCIAL-EMOTIONAL RECIPROCITY
    –can range, for example, from abnormal social approach and failure or 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 NON VERBAL COMMUNICATIVE BEHAVIOURS used for social interaction
    –can range, 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
    –can range, for example, from difficulties adjusting behaviour to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers
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4
Q

how many elements are there to consider in criterion B for ASD? how many of these do you have to have for a diagnosis to be made of ASD?

A

there are 4 elements, and you must have 2 present to make the diagnosis

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5
Q

what is criterion B for ASD

A

restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following, currently or by history:

  1. STEREOTYPED or REPETITIVE MOTOR MOVEMENTS, use of objects, or speech
    –(i.e simple motor stereotypies, lining up toys, flipping objects, echolalia, idiosynchratic phrases)
  2. insistence on SAMENESS, inflexible ADHERENCE TO ROUTINES or RITUALIZED PATTERNS of verbal or nonverbal behaviour
    –(i.e 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
    –(i.e 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
    –(i.e 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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6
Q

how do you specify severity in ASD

A

based on (1) social communication impairments and (2) restricted, repetitive patterns of behaviour

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7
Q

what is criterion C for ASD

A

symptoms must be present in early developmental period (but may not become fully manifest until social demands exceed limited capacities; may be masked by learned strategies later in life)

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8
Q

what is criterion D for ASD

A

symptoms cause clinically significant impairment in social, occupational or other important areas of CURRENT functionign

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9
Q

what is criterion E for ASD

A

not better explained by intellectual disability or global developmental delay

ID and ASD frequently co-occur –> to make both diagnoses, social communication should be below that expected for general developmental level

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10
Q

which DSM IV diagnoses should now fall under the dx of ASD?

A

those with a WELL ESTABLISHED dsm IV dx of:

autistic disorder
aspergers disorder
pervasive developmental disorder not otherwise specified

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11
Q

what are the specifiers in the diagnosis of ASD?

A
  1. with or without accompanying intellectual impairment
  2. with or without accompanying language impairment
  3. associated with a known medical or genetic condition or environmental factor
  4. associated with another neurodevelopmental, mental, or behaviour disorder
  5. with catatonia
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12
Q

how many severity levels are there for ASD

A

3

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13
Q

what do each of the severity levels indicate with regard to need for support

A

level 1–requiring support

level 2–requiring substantial support

level 3–requiring very substantial support

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14
Q

describe the deficits in social communication associated with ASD level 3

A

SEVERE deficits in verbal and nonverbal social communication skills

causes severe impairments in functioning, very limited initiation of social interactions, minimal response to social overtures from others

i.e a person with few words of intelligible speech who rarely initiates interaction and, when they do, makes unusual approaches to meet needs only and response only to very direct social approaches

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15
Q

describe the restricted, repetitive behaviors associated with ASD level 3

A

inflexibility of behaviour, EXTREME difficulty coping with change or other restricted/repetitive behaviours MARKEDLY interfere with functioning in ALL spheres

great distress/difficulty changing focus or action

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16
Q

describe the deficits in social communication associated with ASD level 2

A

MARKED deficits in verbal and nonverbal communication skills

social impairments evident even with supports in place

limited initiation of social interactions and reduced or abnormal responses to social overtures from others

ie. a person who speaks simple sentences, whose interaction is limited to narrow special interests and who has markedly odd nonverbal communication

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17
Q

describe the restricted, repetitive behaviours associated with ASD level 2

A

inflexibility of behaviour, difficulty coping with change, or other restricted/repetitive behaviours appear FREQUENTLY ENOUGH to be OBVIOUS to the casual observer and interfere with functioning in a VARIETY of contexts

distress and/or difficulty changing focus or attention

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18
Q

describe the deficits in social communication associated with ASD level 1

A

without supports in place, deficits in social communication cause noticeable impairments

difficulty initiating social interaction, and clear examples of atypical or unsuccessful responses to social overtures of others

may appear to have decreased interest in social interactions

ie. a person who is able to speak in full sentence and engages in communication but whose to-and-fro conversation with others fails, and whose attempts to make friends are odd and typically unsuccessful

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19
Q

describe the restricted, repetitive behaviours associated with ASD level 1

A

inflexibility of behaviour causes significant interference with functioning in ONE OR MORE contexts

difficulty switching between activities

problems of organization and planning hamper independence

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20
Q

what might need to be recorded diagnostically along with the diagnosis of ASD

A

record if the ASD is associated with a known medical/genetic/enviro factor or with another neurodevelopmental/mental/ behavioural disorder

i.e ASD associated with Rhett syndrome or ASD with/without accompanying intellectual impairment

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21
Q

how do you record severity in the chart

A

record as level of support needed for each of the two psychopathological domains (social communication and restricted/repetitive behavious)

note, the severity levels can be different for the two domains and recorded as such

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22
Q

with regard to recording diagnosis of ASD in the medical record, what are the 5 elements to consider

A
  1. whether the ASD accompanies a known medical/genetic/enviro factor or with another neurodevelopmental/mental/ behavioural disorder
  2. severity
  3. with/without accompanying intellectual impairment
  4. with/without accompanying language impairment (and severity of the language impairment)
  5. catatonia (recorded separately as catatonia associated with ASD)
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23
Q

how do receptive and expressive language domains develop differently in those with ASD

A

receptive language abilities may lag behind expressive language development in those with ASD

thus, they should be considered separately

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24
Q

what are some known genetic disorders associated with ASD

A

Rhett syndrome

Fragile X syndrome

Down Syndrome

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25
Q

what is a medical disorder that has been associated with ASD

A

epilepsy

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26
Q

what are some environmental exposures that may be associated with ASD

A

valproate

FASD

very low birth weight

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27
Q

what is the nature of the impairments in communication and social interaction seen in ASD

A

they are PERVASIVE and SUSTAINED

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28
Q

describe the range of language impairments that can be seen in ASD

A

can range from complete lack of speech–> language delays–> poor comprehension of speech–> echoed speech–> stilted and overly literal language

even when formal language skills (i.e vocab, grammar) are intact, the use of language for reciprocal social communication is impaired in ASD

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29
Q

what is social-emotional reciprocity

A

the ability to engage with others and share thoughts and feelings

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30
Q

how may deficits in social-emotional reciprocity manifest in young children with ASD

A

may show little or no initiation of social interaction and no sharing of emotions

may also have reduced or absent imitation of others behaviour

what language exists is often one sided, lacking in social reciprocity, and used to request or label rather than to comment, share feelings, or converse

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31
Q

how might deficits in social-emotional reciprocity manifest in adults with ASD, even in those without intellectual disability or language delays

A

these deficits may be most apparent in difficulties processing and responding to COMPLEX social cues

(i.e when and how to join a conversation, what not to say)

adults who have developed COMPENSATION strategies for some social challenges still struggle in novel or unsupported situations and suffer from the effort and ANXIETY of CONSCIOUSLY CALCULATING what is socially intuitive for most people

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32
Q

how might deficits in non verbal communicative behaviours used for social interaction manifest in those with ASD

A

absent, reduced or atypical use of eye contact, gestures, facial expressions, body orientation, or speech intonation

may learn a few functional gestures, but have smaller repertoire than others; often dont use spontaneous gestures in communication

difficulty coordinating verbal and non verbal communication–> ie giving impression of ODD, WOODEN or EXAGGERATED “body language” during interactions
–> even if impairments subtle, notice it most with INTEGRATION of eye contact, gesture, body posture, prosody and facial expression for social interaction

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33
Q

what is an early feature of ASD (related to non verbal communicative behaviours)

A

impaired joint attention

(as manifested by lack pf pointing, showing, or bringing objects to share interest with others, or failure to follow someone’s pointing or someone elses gaze)

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34
Q

how might deficits in developing, maintaining, and understanding relationships manifest in those with ASD

A

*should be judged against age, gender, cultural norms

may be absent, reduced or atypical SOCIAL INTEREST (manifested by rejection of others, passivity or inappropriate approaches that seem aggressive or disruptive)

difficulties particularly evident in young children –> often a LACK of SHARED SOCIAL PLAY and IMAGINATION, and later, insistence on playing by VERY FIXED RULES

older individuals may struggle to understand what behaviour is considered appropriate in one context, but not another (i.e casual behaviour in a job interview) or the different ways language can be used

may be an apparent preference for SOLITARY activities or for interacting with MUCH YOUNGER or OLDER PEOPLE

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35
Q

how much friendships manifest in those with ASD

A

there is frequently a desire to establish friendships without a complete or realistic idea of what friendship entails (i.e one sided friendships or friendships based solely on shared special interests)

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36
Q

describe the range of stereotyped or repetitive behaviours that may be seen in ASD

A

*there is a range of manifestations possible, depending on age, ability, intervention, supports… i.e:

simple motor stereotypies (hand flapping, finger flicking)

repetitive use of objects (spinning coins, lining up toys)

repetitive speech (echolalia, parroting of hear words, use of “you” when referring to self)

can also have excessive adherence to routines and restricted patterns of behaviour

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37
Q

how might excessive adherence to routines and restricted patterns of behaviour manifest in ASD

A

resistance to change (i.e distress at apparently small changes, insistence on rules, rigidity of thinking)

ritualized patterns of verbal or nonverbal behaviour (i.e pacing a perimeter, repetitive questioning)

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38
Q

how might highly restricted, fixated interests manifest in ASD

A

tend to be abnormal in INTENSITY or FOCUS

i.e toddler strongly attached to a kitchen pan, a child preoccupied with vacuum cleaners, adult spending hours writing out timetables

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39
Q

how might apparent hyper or hypo-reactivity to sensory input manifest in ASD

A

some fascinations/routines may related to apparent hyper or hypo-reactivity to sensory input

can manifest through extreme responses to specific sounds or textures, excessive smelling or touching of objects, fascination with lights or spinning objects, and sometimes apparent indifference to pain, cold, or heat

extreme reaction or rituals involving TASTE, SMELL, TEXTURE or APPEARANCE of FOOD or excessive food restrictions are common and may be PRESENTING FEATURE of ASD

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40
Q

can you diagnose ASD in an adult even if restricted, repetitive patterns of behaviour, interests or activities are not clearly present in adulthood?

A

yes–if they were clearly present in childhood or at some time in the past

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41
Q

what are some features often associated with ASD that may support diagnosis

A
  1. intellectual or language impairment
    –even if average or high intelligence, often have large gap between intellectual and adaptive functional skills
  2. motor deficits
  3. self injury
  4. disruptive/challenging behaviours
  5. anxiety, depression
  6. catatonic-like motor behaviour
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42
Q

what motor deficits may be present along with ASD

A

odd gait

clumsiness

other abnormal motor signs (i.e walking on tiptoes)

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43
Q

what self injury behaviours may be present along with ASD

A

head banging, biting the wrist

also, disruptive/challenging behaviours are more common in those with ASD than other disorders (including intellectual disability)

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44
Q

what types of catatonic-like behaviours are seen in ASD

A

some individuals develop catatonic-like motor behaviour like slowing, or “freezing” mid action, but these are typically not of the magnitude of a catatonic episode

however, also possible for those with ASD to experience marked deterioration in motor symptoms and display a full catatonic episode with symptoms such as mutism, posturing, grimacing, waxy flexibility

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45
Q

when is the risk period for comorbid catatonia highest in ASD

A

adolescent years

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46
Q

what is the prevalence of ASD

A

approaching 1% of the population

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47
Q

when are symptoms of ASD typically recognized

A

during the second year of life (12-24 months)

*may be seen earlier than 12 months if developmental delays are severe, or noted later then 24 months if symptoms are more subtle

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48
Q

how might the pattern of onset of autism be described

A

might include info about early developmental delays or any losses of social or language skills

*in cases where skills were lost, parents may give a history of a gradual or relatively rapid deterioration in social behaviours and language skills –> such losses are rare in other disorders and should be a red flag for autism
*would typically occur between 12-24 months of age

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49
Q

how do you distinguish between the loss of social/language skills associated with ASD and that associated with rare instances of developmental regression

A

developmental regression typically occurs after age 2 (after 2 years of normal development) whereas ASD presents between ages 12-24 months

50
Q

when should you go looking for another cause of losses of developmental skills (other than ASD)

A
  1. loss of skills beyond social communication (i.e loss of self care, toileting, motor skills)
  2. those occurring after second birthday
51
Q

what are common first symptoms of ASD

A

delayed language development

often accompanied by lack of social interest or unusual social interactions (ie pulling people by the hand without attempt to look at them), odd play patterns and unusual communication patterns (i.e knowing alphabet but not responding to own name)

52
Q

is ASD a degenerative disorder

A

no–> it is typical for learning and compensation to occur throughout life

53
Q

when are ASD symptoms typically most marked

A

early childhood and early school years–> developmental gains are typical in later childhood in at least some areas

*a small proportion of individuals deteriorate behaviourally during adolescence whereas most others improve

54
Q

what proportion of those with ASD live and work independently in adulthood

A

a minority–> they tend to be those with superior language and intellectual abilities and are able to find a niche that matches their interests and skills
–> even these may remain socially naive and vulnerable

55
Q

what are the best established prognostic factors for individual outcome with ASD

A
  1. presence or absence of associated intellectual disability and language impairments
    *functional language by the age of 5 is a GOOD prognostic sign
  2. additional mental health problems
  3. epilepsy–> as a comorbid diagnosis is associated with greater ID and lower verbal ability
56
Q

list some environmental risk factors for ASD

A

advanced paternal age

low birth weight

fetal exposure to valproate

57
Q

what is the heritability of ASD

A

estimates range from 37% to higher than 90% based on twin concordance studies

twins show 80% chance of heritability

58
Q

what % of cases of ASD appear to be associated with a known genetic mutation

A

15%

*even when a case of ASD is associated with a known genetic mutation, it does not appear to be fully penetrant

59
Q

which gender is more likely to be diagnosed with ASD

A

males are four times more likely to be diagnosed with ASD than women

*females tend to be more likely to show accompanying ID, which means that girls without accompanying ID or language delays may be going unrecognized, perhaps because of subtler manifestation of social and communication difficulties

60
Q

how do adaptive skills and IQ compare in kids with ASD

A

adaptive skills tend to be below measured IQ

61
Q

what features of ASD tend to significantly hamper academic achievement even in those with above average intelligence

A

extreme difficulty in planning, organization and coping with change

*even in adulthood, these people may have difficulties establishing independence due to continued rigidity and difficulty with novelty

62
Q

what is the ddx for ASD

A
  1. Rett syndrome
  2. selective mutism
  3. language disorders and social communication disorder
  4. intellectual disability without ASD
  5. stereotypic movement disorder
  6. ADHD
  7. schizophrenia
63
Q

what is rett syndrome

A

rare genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every domain–> ability to speak, walk, eat and breathe easily

hallmark is NEAR CONSTANT REPETITIVE HAND MOVEMENTS

64
Q

when is the regressive phase of Rett syndrome

A

between ages 1-4 years

*during this time, affected girls may meet criteria for ASD, but usually, after age 4, most individuals with Rhett syndrome improve their social communication skills and ASD features are no longer an area of concern

65
Q

how to distinguish between ASD and schizophrenia on the ddx

A

though schizophrenia with childhood onset may present with a prodromal state in which they have social impairments and atypical interests and beliefs, this typically follows a period of normal, or near normal, development

neither hallucinations or delusions are seen in ASD

66
Q

what % of those with ASD have one comorbid mental disorder? two?

A

70% have 1, and 40% have 2+

67
Q

what comorbidities are common in those with ASD

A

intellectual disability

structural language disorder

ADHD

developmental coordination disorder

anxiety

depression

specific learning disability

68
Q

what feeding disorder is a relatively common presenting feature of ASD

A

ARFID

69
Q

list ways in which ASD can manifest differently in girls than boys

A
  1. superficial social behaviour can be relatively well preserved
  2. social understanding and social skills are nevertheless low BUT such deficits may be difficult to elicit in girls unless specifically sought
  3. girls often camouflage their deficits
  4. subtly autism, often seen in girls, may be too subtle to detect on a casual interview
70
Q

list some hints that ASD may be the correct diagnosis in a girl

A
  1. a girl who never fits in socially, or has had only a few friends ever, or whose friendships, on detailed review, are not truly reciprocal and spontaneous
  2. a girl who has acquired many diagnoses but there still seems to be some unexplained features
  3. a girl hose parents describe as having very unreasonable behaviour–but who do not recognize it as abnormal anymore after many years
  4. a girl who takes it upon herself to study the behaviour of others so that she can learn how to behave socially and not be noticed
  5. a girl who has other atypical features which may have gone unnoticed: fixated on routines, delayed echolalia, some motor and sensory habits, intense though ordinary girl interests–> atypical behaviours and interests must also be present in addition to social impairment for diagnosis
  6. girls, however social incompetent, may still be interested in “people”–a social interest does not rule out autism
  7. even a previous negative autism assessment done when the girl was much younger, though apparently ruling it out, attests to earlier suspicion
71
Q

in what ways may superficial social behaviour be relatively well preserved in girls with autism

A

eye contact, facial expressions and gestures can be intact–> verbal exchanges with adults i.e answering questions about home and school, can come across as typical–>

“boys are interested in things and girls are interested in people”

girls with ASD can be intensely interested in ANIMATE things including animals and people –> they can be highly aware of their social environment and may love things such as doll play and fantasy stories

these typical girl interests are pursued with autistic focus and compulsiveness however

72
Q

how do girls mask their ASD deficits

A

girls have greater interests and capacity to both hide their autism by masking, or compensate for it

may mask it by suppressing stimming, or pretending they have a reason to withdraw when they do not know what to say

may compensate by studying gestures, copying clothing, language etc

73
Q

list “red flags” for autism

A

use of another persons body as a tool–> almost PATHOGNOMONIC for autism (i.e child using parent’s hand as a tool to achieve a task)

seems to be in their “own world”

doesnt respond to own name when called

doesnt respond to parents attempts to play, even if relaxed

avoids or ignores other children when they approach or interact

no words by 16 months or no 2 word phrases by 24 months

any loss of previously acquired language or social skills

doesnt point to show others things he/she interested in

inconsistent or reduced use of eye contact with people outside the family

rarely smiles when looking at others or does not exchange back and forth warm, joyful expressions

does not spontaneously use gestures such as waving, reaching or pointing with others

more interested in looking at objects rather than peoples faces

may be content to spend extended periods of time alone

doesnt attempt to get parents attention

doesnt bring toy or item to parents to show them

74
Q

what is the prevalence of sleep disturbance in ASD

A

40-80%

75
Q

list 3 screening tools and rating scales

A

Autism Spectrum Quotient

Quantitative Checklist for Autism in Toddlers

Modified Checklist for Autism in Toddlers

76
Q

what test should be ordered in all individuals with ASD

A

genome-wide microarray analysis

77
Q

what treatment is evidence-based in ASD (psychDB)

A

Applied Behaviour Analysis

uses theories of learning and operant conditioning to address core symptoms of ASD

*early aggressive intervention has been shown to be effective in reducing symptoms

78
Q

name 3 genetic conditions that can be associated with autism

A

fragile X

tuberous sclerosis

rett syndrome

79
Q

is there stronger influence of heritability or environment on development of autism

A

heritability only = 37%

stronger influence of environment

80
Q

list 7 substances in which in utero exposures may result in autism

A

(only small number of cases)

valproic acid

thalidomide

misoprostol

terbutaline

antidepressants

pesticides

congenital rubella

81
Q

what % of kids with autism have an associated medical disorder

A

10-25%

i.e fragile X, TS, teratogenic exposure, neurologic disease

82
Q

is fragile X testing recommended for all kids with suspected autism

A

yes

83
Q

in which patients would you order PTEN gene sequencing

A

if head circumference bigger than 3 standard deviations (esp. if developmental regression)

84
Q

what disorder are you looking for if you are doing PTEN gene sequencing

A

rett

85
Q

in which patients is neuroimaging recommended (if also autism suspected)

A

if substantial dysmorphology
microcephaly
seizures

86
Q

list 3 evaluation tools that can be used to assess presence of autism

A

ADOS–> autism diagnostic observation schedule

CARS-2–> childhood autism rating scale 2

ADIR–> autism diagnostic interview-revised

87
Q

what % of kids with autism have clear behaivoural signs by age 2

A

80%

88
Q

what are two tools that can be used to screen for (but not actually assess) autism

A

M-CHAT–> modified checklist for autism in toddlers

ITC–> infant toddler checklist

89
Q

list social-communication related red flags for autism at age 12-18 months

A

reduced or atypical:
–eye gaze and shared or joint attention
–sharing of emotions (less +, more - affect)
–social or reciprocal smiling
–social interest and shared enjoyment
–oriented when his/her name is called
–coordination of different modes of communication–> eye gaze, facial expression, gesture, vocalization)

regression or loss of social-emotional connectedness

90
Q

list language-related red flags for autism in ages 12-18 months

A

delayed or atypical:
–babbling, particularly back and forth babbling
–language comprehension and production
–unusual tone of voice (including crying)
–development of gestures (i.e pointing and waving)

regression or loss of communication skills (including words)

91
Q

what are some red flags for autism related to play in ages 12-18 months

A

reduced or atypical imitations or actions, or functional and imaginative play

excessive or unusual manipulation or visual exploration of toys and other objects

repetitive actions with toys and other objects

92
Q

what are some visual or other sensory and motor skill-related red flags for autism in ages 12-18 months

A

atypical tracking, visual fixation i.e on lights

under and over reaction to sounds or other forms of sensory stimulation

delayed fine and gross motor skills, atypical motor control (i.e reduced muscle tone)

repetitive motor behaviours, atypical posturing of limbs or digits

93
Q

list 3 common comorbidities with autism

A

ADHD

anxiety

mood

94
Q

behavioural interventions for autism focus on improving what factors

A

language, cognitive and adaptive skills

95
Q

what is one type of behavioural intervention in autism

A

Applied Behaviour Analysis

96
Q

what is Applied Behaviour Analysis

A

type of behavioural intervention in autism

“antecedent-behaviour-consequence contingency”

discrete trial teaching–> progresses to more naturalistic learning

there have been enhanced outcomes with EARLY INTENSIVE ABA-treatment

97
Q

what 3 factors were associated with greatest gains in verbal IQ and language communication with Applied Behaviour Analysis for autism

A
  1. stronger pre treatment skills
  2. started earlier
  3. greater intensity or duration of intervention
98
Q

ABA in toddlers has been shown to improve what parameters

A

improved IQ

improved adaptive skills

99
Q

what are the two medications that are FDA approved for irritability and aggression in autism

A

risperidone

abilify

(supported by cochrane review)

100
Q

what medications can be used for ADHD sx in ASD (i.e hyperactivity, inattention)

A

stimulants, atomoxetine–> effective, though smaller effect sizes and more SEs when used in those with autism than those with ADHD alone

clonidine, guanfacine may have a role

101
Q

what medications can be used for repetitive behaviours in autism

A

risperidone, abilify

significant decrease in repetitive behaviours in autism, careful of SEs

102
Q

did citalopram help with repetitive behaviours in autism

A

no

103
Q

what medication is recommended to treat sleep disturbances in autism

A

melatonin

*improved sleep parameters, better daytime behaviour, minimal SEs

104
Q

what is the strongest predictor of outcomes in those with autism

A

level or verbal communication and IQ before age 5

105
Q

how do the core phenotypic features and challenging behaviours seen in autism change over time

A

they persist

some problems may improve over time, may be due to educational programs

106
Q

what psychiatrist first described autism

A

Kanner in 1943

107
Q

does earlier detection and service improve long term prognosis

A

yes

108
Q

what gene is responsible for Rett syndrome

A

MeCP2

109
Q

in which patients should you suspect Rett syndrome

A

girls with hand washing/wringing, stereotypies

110
Q

what are the two domains of assessment in diagnosing autism

A

social communication and interaction deficits

restricted, repetitive patterns of behaviour and interests

111
Q

what % of those with autism have EEG abnormalities and seizure disorder

A

20-25%

112
Q

what neurobiological differences are seen in people wiht autism

A
  1. increased peripheral serotonin
  2. increased brain size on MRI + abberrations in white matter tract development
  3. differences in social/affective judgment and facial/nonfacial processing on fMRI
  4. limbic system abnormalities on post mortem studies
  5. seizures/EEG abnormalities in some people
113
Q

what neuropsychological deficits are seen in autism

A

impaired EXECUTIVE FUNCTION

weak CENTRAL COHERENCE–> integrating information

deficits in THEORY OF MIND

114
Q

list pregnancy/childbirth related risk factors for ASD

A

closer spacing of pregnancies

advanced maternal/paternal age

extremely premature birth (less than 26 weeks GA)

115
Q

what % of those with autism have IQ in normal range

A

20%

116
Q

what exam assessed for tuberous sclerosis

A

woods lamp exam

117
Q

what is the yield of genetic testing if clinical suspicion is present in the case of autism

A

33%

118
Q

what types of skills/tasks are addressed by applied behaviour analysis

A

academic tasks

adaptive living skills

communication

social skills

vocational skills

119
Q

CBT has shown efficacy for treating what comorbidities in high functioning youth with autism

A

anxiety and anger management

120
Q

are rates of parental separation/divorce higher in kids with autism

A

no