Autism Spectrum Disorder--DSM + Guidelines (2014) Flashcards
How many criteria are there for ASD
5
How many elements are there in criterion A for ASD (all of which must be present)
3
what is criterion A for ASD
persistent deficits in SOCIAL COMMUNICATION and social INTERACTION across multiple contexts, as manifested by ALL of the following, currently or historically:
- 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 - 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 - 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
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?
there are 4 elements, and you must have 2 present to make the diagnosis
what is criterion B for ASD
restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following, currently or by history:
- STEREOTYPED or REPETITIVE MOTOR MOVEMENTS, use of objects, or speech
–(i.e simple motor stereotypies, lining up toys, flipping objects, echolalia, idiosynchratic phrases) - 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) - 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) - 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)
how do you specify severity in ASD
based on (1) social communication impairments and (2) restricted, repetitive patterns of behaviour
what is criterion C for ASD
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)
what is criterion D for ASD
symptoms cause clinically significant impairment in social, occupational or other important areas of CURRENT functionign
what is criterion E for ASD
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
which DSM IV diagnoses should now fall under the dx of ASD?
those with a WELL ESTABLISHED dsm IV dx of:
autistic disorder
aspergers disorder
pervasive developmental disorder not otherwise specified
what are the specifiers in the diagnosis of ASD?
- with or without accompanying intellectual impairment
- with or without accompanying language impairment
- associated with a known medical or genetic condition or environmental factor
- associated with another neurodevelopmental, mental, or behaviour disorder
- with catatonia
how many severity levels are there for ASD
3
what do each of the severity levels indicate with regard to need for support
level 1–requiring support
level 2–requiring substantial support
level 3–requiring very substantial support
describe the deficits in social communication associated with ASD level 3
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
describe the restricted, repetitive behaviors associated with ASD level 3
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
describe the deficits in social communication associated with ASD level 2
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
describe the restricted, repetitive behaviours associated with ASD level 2
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
describe the deficits in social communication associated with ASD level 1
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
describe the restricted, repetitive behaviours associated with ASD level 1
inflexibility of behaviour causes significant interference with functioning in ONE OR MORE contexts
difficulty switching between activities
problems of organization and planning hamper independence
what might need to be recorded diagnostically along with the diagnosis of ASD
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
how do you record severity in the chart
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
with regard to recording diagnosis of ASD in the medical record, what are the 5 elements to consider
- whether the ASD accompanies a known medical/genetic/enviro factor or with another neurodevelopmental/mental/ behavioural disorder
- severity
- with/without accompanying intellectual impairment
- with/without accompanying language impairment (and severity of the language impairment)
- catatonia (recorded separately as catatonia associated with ASD)
how do receptive and expressive language domains develop differently in those with ASD
receptive language abilities may lag behind expressive language development in those with ASD
thus, they should be considered separately
what are some known genetic disorders associated with ASD
Rhett syndrome
Fragile X syndrome
Down Syndrome
what is a medical disorder that has been associated with ASD
epilepsy
what are some environmental exposures that may be associated with ASD
valproate
FASD
very low birth weight
what is the nature of the impairments in communication and social interaction seen in ASD
they are PERVASIVE and SUSTAINED
describe the range of language impairments that can be seen in ASD
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
what is social-emotional reciprocity
the ability to engage with others and share thoughts and feelings
how may deficits in social-emotional reciprocity manifest in young children with ASD
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
how might deficits in social-emotional reciprocity manifest in adults with ASD, even in those without intellectual disability or language delays
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
how might deficits in non verbal communicative behaviours used for social interaction manifest in those with ASD
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
what is an early feature of ASD (related to non verbal communicative behaviours)
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)
how might deficits in developing, maintaining, and understanding relationships manifest in those with ASD
*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
how much friendships manifest in those with ASD
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)
describe the range of stereotyped or repetitive behaviours that may be seen in ASD
*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
how might excessive adherence to routines and restricted patterns of behaviour manifest in ASD
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)
how might highly restricted, fixated interests manifest in ASD
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
how might apparent hyper or hypo-reactivity to sensory input manifest in ASD
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
can you diagnose ASD in an adult even if restricted, repetitive patterns of behaviour, interests or activities are not clearly present in adulthood?
yes–if they were clearly present in childhood or at some time in the past
what are some features often associated with ASD that may support diagnosis
- intellectual or language impairment
–even if average or high intelligence, often have large gap between intellectual and adaptive functional skills - motor deficits
- self injury
- disruptive/challenging behaviours
- anxiety, depression
- catatonic-like motor behaviour
what motor deficits may be present along with ASD
odd gait
clumsiness
other abnormal motor signs (i.e walking on tiptoes)
what self injury behaviours may be present along with ASD
head banging, biting the wrist
also, disruptive/challenging behaviours are more common in those with ASD than other disorders (including intellectual disability)
what types of catatonic-like behaviours are seen in ASD
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
when is the risk period for comorbid catatonia highest in ASD
adolescent years
what is the prevalence of ASD
approaching 1% of the population
when are symptoms of ASD typically recognized
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
how might the pattern of onset of autism be described
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
how do you distinguish between the loss of social/language skills associated with ASD and that associated with rare instances of developmental regression
developmental regression typically occurs after age 2 (after 2 years of normal development) whereas ASD presents between ages 12-24 months
when should you go looking for another cause of losses of developmental skills (other than ASD)
- loss of skills beyond social communication (i.e loss of self care, toileting, motor skills)
- those occurring after second birthday
what are common first symptoms of ASD
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)
is ASD a degenerative disorder
no–> it is typical for learning and compensation to occur throughout life
when are ASD symptoms typically most marked
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
what proportion of those with ASD live and work independently in adulthood
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
what are the best established prognostic factors for individual outcome with ASD
- presence or absence of associated intellectual disability and language impairments
*functional language by the age of 5 is a GOOD prognostic sign - additional mental health problems
- epilepsy–> as a comorbid diagnosis is associated with greater ID and lower verbal ability
list some environmental risk factors for ASD
advanced paternal age
low birth weight
fetal exposure to valproate
what is the heritability of ASD
estimates range from 37% to higher than 90% based on twin concordance studies
twins show 80% chance of heritability
what % of cases of ASD appear to be associated with a known genetic mutation
15%
*even when a case of ASD is associated with a known genetic mutation, it does not appear to be fully penetrant
which gender is more likely to be diagnosed with ASD
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
how do adaptive skills and IQ compare in kids with ASD
adaptive skills tend to be below measured IQ
what features of ASD tend to significantly hamper academic achievement even in those with above average intelligence
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
what is the ddx for ASD
- Rett syndrome
- selective mutism
- language disorders and social communication disorder
- intellectual disability without ASD
- stereotypic movement disorder
- ADHD
- schizophrenia
what is rett syndrome
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
when is the regressive phase of Rett syndrome
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
how to distinguish between ASD and schizophrenia on the ddx
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
what % of those with ASD have one comorbid mental disorder? two?
70% have 1, and 40% have 2+
what comorbidities are common in those with ASD
intellectual disability
structural language disorder
ADHD
developmental coordination disorder
anxiety
depression
specific learning disability
what feeding disorder is a relatively common presenting feature of ASD
ARFID
list ways in which ASD can manifest differently in girls than boys
- superficial social behaviour can be relatively well preserved
- social understanding and social skills are nevertheless low BUT such deficits may be difficult to elicit in girls unless specifically sought
- girls often camouflage their deficits
- subtly autism, often seen in girls, may be too subtle to detect on a casual interview
list some hints that ASD may be the correct diagnosis in a girl
- 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
- a girl who has acquired many diagnoses but there still seems to be some unexplained features
- a girl hose parents describe as having very unreasonable behaviour–but who do not recognize it as abnormal anymore after many years
- 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
- 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
- girls, however social incompetent, may still be interested in “people”–a social interest does not rule out autism
- even a previous negative autism assessment done when the girl was much younger, though apparently ruling it out, attests to earlier suspicion
in what ways may superficial social behaviour be relatively well preserved in girls with autism
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
how do girls mask their ASD deficits
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
list “red flags” for autism
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
what is the prevalence of sleep disturbance in ASD
40-80%
list 3 screening tools and rating scales
Autism Spectrum Quotient
Quantitative Checklist for Autism in Toddlers
Modified Checklist for Autism in Toddlers
what test should be ordered in all individuals with ASD
genome-wide microarray analysis
what treatment is evidence-based in ASD (psychDB)
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
name 3 genetic conditions that can be associated with autism
fragile X
tuberous sclerosis
rett syndrome
is there stronger influence of heritability or environment on development of autism
heritability only = 37%
stronger influence of environment
list 7 substances in which in utero exposures may result in autism
(only small number of cases)
valproic acid
thalidomide
misoprostol
terbutaline
antidepressants
pesticides
congenital rubella
what % of kids with autism have an associated medical disorder
10-25%
i.e fragile X, TS, teratogenic exposure, neurologic disease
is fragile X testing recommended for all kids with suspected autism
yes
in which patients would you order PTEN gene sequencing
if head circumference bigger than 3 standard deviations (esp. if developmental regression)
what disorder are you looking for if you are doing PTEN gene sequencing
rett
in which patients is neuroimaging recommended (if also autism suspected)
if substantial dysmorphology
microcephaly
seizures
list 3 evaluation tools that can be used to assess presence of autism
ADOS–> autism diagnostic observation schedule
CARS-2–> childhood autism rating scale 2
ADIR–> autism diagnostic interview-revised
what % of kids with autism have clear behaivoural signs by age 2
80%
what are two tools that can be used to screen for (but not actually assess) autism
M-CHAT–> modified checklist for autism in toddlers
ITC–> infant toddler checklist
list social-communication related red flags for autism at age 12-18 months
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
list language-related red flags for autism in ages 12-18 months
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)
what are some red flags for autism related to play in ages 12-18 months
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
what are some visual or other sensory and motor skill-related red flags for autism in ages 12-18 months
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
list 3 common comorbidities with autism
ADHD
anxiety
mood
behavioural interventions for autism focus on improving what factors
language, cognitive and adaptive skills
what is one type of behavioural intervention in autism
Applied Behaviour Analysis
what is Applied Behaviour Analysis
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
what 3 factors were associated with greatest gains in verbal IQ and language communication with Applied Behaviour Analysis for autism
- stronger pre treatment skills
- started earlier
- greater intensity or duration of intervention
ABA in toddlers has been shown to improve what parameters
improved IQ
improved adaptive skills
what are the two medications that are FDA approved for irritability and aggression in autism
risperidone
abilify
(supported by cochrane review)
what medications can be used for ADHD sx in ASD (i.e hyperactivity, inattention)
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
what medications can be used for repetitive behaviours in autism
risperidone, abilify
significant decrease in repetitive behaviours in autism, careful of SEs
did citalopram help with repetitive behaviours in autism
no
what medication is recommended to treat sleep disturbances in autism
melatonin
*improved sleep parameters, better daytime behaviour, minimal SEs
what is the strongest predictor of outcomes in those with autism
level or verbal communication and IQ before age 5
how do the core phenotypic features and challenging behaviours seen in autism change over time
they persist
some problems may improve over time, may be due to educational programs
what psychiatrist first described autism
Kanner in 1943
does earlier detection and service improve long term prognosis
yes
what gene is responsible for Rett syndrome
MeCP2
in which patients should you suspect Rett syndrome
girls with hand washing/wringing, stereotypies
what are the two domains of assessment in diagnosing autism
social communication and interaction deficits
restricted, repetitive patterns of behaviour and interests
what % of those with autism have EEG abnormalities and seizure disorder
20-25%
what neurobiological differences are seen in people wiht autism
- increased peripheral serotonin
- increased brain size on MRI + abberrations in white matter tract development
- differences in social/affective judgment and facial/nonfacial processing on fMRI
- limbic system abnormalities on post mortem studies
- seizures/EEG abnormalities in some people
what neuropsychological deficits are seen in autism
impaired EXECUTIVE FUNCTION
weak CENTRAL COHERENCE–> integrating information
deficits in THEORY OF MIND
list pregnancy/childbirth related risk factors for ASD
closer spacing of pregnancies
advanced maternal/paternal age
extremely premature birth (less than 26 weeks GA)
what % of those with autism have IQ in normal range
20%
what exam assessed for tuberous sclerosis
woods lamp exam
what is the yield of genetic testing if clinical suspicion is present in the case of autism
33%
what types of skills/tasks are addressed by applied behaviour analysis
academic tasks
adaptive living skills
communication
social skills
vocational skills
CBT has shown efficacy for treating what comorbidities in high functioning youth with autism
anxiety and anger management
are rates of parental separation/divorce higher in kids with autism
no
