AUTISM

SPECTRUM
DISORDER
Prevalence
• In 1990’s it was 1 per 2,000, including Asperger’s
Syndrome 1 per 1,000 (Tanguay 2000)
• Current prevalence rates around 1/150 to 1/100 for ASDs
(Croen et al., 2002, Rice, 2009)
• True increase in milder cases
• True increase of all case types
• More awareness
• Problems with diagnostic instruments
• Incorrect diagnoses
• Studies differ in screening methods, diagnostic instruments,
diagnostic criteria
• Diagnosed 4x as often in males than females
Diagnostic Criteria
• Projects using ICD-10 criteria show prevalence
around 1/2,000 (Autism) and 1/600 (Autism plus
other pervasive developmental disorders)
• Studies using less strict criteria show much
higher prevalence rates
• Bryson et al., 1988, 1/1,000 Used ABC (checklist)
• Sugiyama and Abe (1989) used DSM-III and noted
1/760
• Ehlers and Gillberg (1993) set of criteria specifically
designed to diagnose ASD found 1/143
DSM-V Criteria
• Criterion A: Persistent deficits in social communication and
interaction
• Can include social-emotional reciprocity, nonverbal communicative
behaviors, developing/maintaining relationships
• Criterion B: Restricted, repetitive patterns of behavior
• Repetitive motor movements (rocking), ecolalia, insistence on
sameness and a routine, highly restricted, fixated interests, unusual
interest in sensory aspects of the environment
• Symptoms must be present in early developmental period and
cannot be better explained by intellectual disability or global
developmental disability
• 3 levels of severity
• Viewed as a dimensional disorder
• Specifiers for each criterion
Secondary Features
• Intellectual disability
• Often large discrepancies in abilities in high functioning kids
• Motor disabilities
• Odd gait, clumsiness, walking on tiptoes
• Self-injury
• Inattention
• Disruptive behavior
• Catatonia
• Possible, not particularly common
• Most likely during adolescent years
Social Problems
• Most universal, specific characteristic of ASD
• Consistent and replicated across studies
• Lack joint attention, theory of mind
• Cannot correctly assign motives, understand someone’s goals, difficulty
participating in spontaneous symbolic play
• Other groups show problems with theory of mind but may not show same
deficits in joint attention
• Down Syndrome, severe hearing impairment
• Pay proportionately less attention to people than objects
• Spend less time than TD kids doing something that shows intent
• Children are attached to mothers as much as age- and IQ-matched TD
kids (Rogers et al., 1991)
• Tend not to point, show objects – attention-sharing behaviors (Sigman et
al., 1986)
• Do not seem to recognize emotions (facial expression, gesture,
nonverbal vocalizations of emotion)
Restricted, Repetitive Behaviors
• Verbal and nonverbal repetitive, stereotyped behaviors
• More heterogeneous and context-dependent than social
deficits
• Including them on diagnostic instruments increases
specificity with little change in sensitivity
• One study showed only 9 of 2700 children with ASD
diagnosis did not show any RRB’s (Lord et al., 2012)
Restricted, Repetitive Behaviors
• Four subdomains:
• Motor stereotypies – lining things up, flipping things, step
counting, unusual responses to sensory input, rocking
• Some of these may be common in young children – clinicians must look
at the number and intensity of behaviors to discriminate TD from ASD
• Tend to emerge early in life but are somewhat flexible
• Most common subdomain
• Rituals and sameness – like Rain Man’s pancake Tuesday
• Prevalent in about 25% of ASD population
• Develop later than motor type, stable throughout life
• Circumscribed interests – highly fixated or unusual interests
• A particular movie, cartoon character,
• Self-injurious behavior – hand flapping, hitting
• Present in other disorders
• More common in ASD than general population
Language Delay
• Language delay is not specific to ASD
• Delays in receptive language may be specific to ASD as
opposed to other communication disorders (Philofsky, Hepburn,
Hayes, Hageran, & Rogers 2004)
• Not yet connected to specific neurobiological problem
• Language (particularly receptive language) scores
correlate with IQ (specifically verbal) (Luyster et al., 2008)
Controversy
• DSM-IV included categories for Autism, Pervasive
Development Disorder NOS, High Functioning Autism,
and Asperger’s Syndrome
• Sevin et al (1995) studied 34 kids with autism and PDD-
NOS. Did not find discrete categories.
• Categories were collapsed into Autism Spectrum – PDD-
NOS, HFA, and AS now “on the spectrum”
• Concern about retaining diagnoses, receiving services,
stigma
Controversy
• Intent was NOT to remove anyone’s diagnosis
• Will actually help some higher functioning kids get services
• Everyone should convert to Autism Spectrum with
specifications if criteria used correctly
• DSM-IV included category for communication difficulty
• This is covered by DSM-V criteria A and B. Separate category was
not needed
 DSM-V Schematic
Genetics
• Unknown

Core Symptoms
• Social Deficits
• Restricted, repetitive
behaviors

Biological
Substrate
• Unknown Secondary Symptoms
• Intellectual, motor disabilities
• Self-injury
• Inattention/Disruptive Behavior
• Catatonia
Assessment – ADI-R
• Gold Standards are Autism Diagnostic Interview –
Revised (ADI-R) and Autism Diagnostic Observation
Scale (ADOS)
• ADI-R is semi-structured interview for caregivers
• 93 items, about 2 hours
• Based on DSM-IV criteria (Communication difficulties, social
reciprocity, restricted, repetitive behaviors)
• Chakrabarti and Fombonne (2001) found that interrater reliability
was excellent on those subscales
Assessment - ADOS
• Observational
• Can be used in nonverbal 2-year-olds – verbal adults and
all between
• 4 Modules:
• Pre-Verbal-Single Words
• Phrase speech
• Fluent Speech
• Activities for daily living, plans, hopes
Psychometric Issues in Diagnosis
• Low test-retest reliability on many instruments
• Little investigation of specificity or validity of screening
measures
• Lack sensitivity and specificity
• Severity scores quantifying social deficits needed
• Sometimes alternative thresholds are suggested for
research vs clinical diagnoses
• Children of color or of less-educated parents less likely to
receive ASD diagnosis than Caucasian kids or kids with
well-educated parents (Mandell et al 2009)
Onset and Course
• Symptoms are usually noted first in months 12-24 of a
child’s life
• Delayed language, odd play patterns, lack of social interaction
• Pay attention to type, frequency, intensity of symptoms
• Can experience developmental plateaus or regression
• Rarely a severe regression after 2 years of normal development
• Onset must occur by age 3
• Individuals generally improve throughout lives
• Robust diagnosis
• Sensitivity of .82 and specificity of .87 (Volkmar et al 1994)
Common Comorbidities
• 70% of ASD individuals have one comorbid disorder, up to
40% may have 2 or more (DSM-V)
• Medical conditions such as epilepsy and sleep problems
somewhat common
• Comorbid diagnoses of ADHD, anxiety and depressive
disorders, and developmental coordination disorder seen
• First degree relatives have higher incidence of major
depression and social phobia than the rest of the
population (Bolton et al., 1998)
• Relatives have 20% frequency of social phobia (Smalley et al.,
1995)
• 10 times higher than controls
• Over half (64%) had first episode before the birth of autistic child
Biological Contributions

?
 Genetics
• Concordance rates in monozygotic versus dizygotic twins
range from 60-91% (MZ), 0-10% (DZ) (Folstein and Rutter, 1977,
Steffenburg et al., 1989, Bailey et al., 1995.)

• Variation in behavioral and cognitive deficits as great within

MZ pairs as between pairs
• These findings suggest that autism is highly heritable (broad cognitive
and social impairment)
• Different sets of genes do not act to produce different symptoms
Genetics
• Gender disparity led some researchers to wonder if ASD
linked to X chromosome
• Hallmayer et al (1996) found no major gene effect on X
chromosome causing autism
• International Molecular Genetic Study of Autism
Consortium (1998) found possible connections for regions
on chromosomes 7 and 16
• Significance is not yet known
• Found most often in those with severe language delays
Neuroligins and Neurexins
• Neuroligins and neurexins are the “building blocks” of
synapses
• Small percentage of those with ASD have mutations
which can cause neurexin deletions
• This affects synaptic formation and function
• May increase risk for developing ASD
Neuropharmacological Studies
• Cook and Leventhan (1996) noted that serotonin may be
involved in many of the symptoms of autism
• This is neither surprising nor particularly helpful
• One study found people with ASD have autoantibodies to
brain serotonin receptors (Todd and Ciaranello, 1985)
• Two studies failed to confirm findings
• People with ASD may have increased 5-HT on blood
platelets
Electroencephalography
• ASD people unlikely to show more EEG abnormalities
than the normal population
• This is nonspecific and not particularly helpful
Vaccines
• One study published in a medical journal concluded a link
between vaccines (MMR) and autism
• Article was fully retracted in 2010
• Lead author Andrew Wakefield had many undeclared
conflicts of interest and manipulated some of his data
• Found guilty of serious medical misconduct and no longer
allowed to practice medicine
• Study has been disproved many times since its original
publication in 1998
Vaccines
• DeStefano et al (2013) evaluated 256 ASD kids and
752 TD kids matched on birth year and sex, ages 6-
13
• Confirmed diagnoses via ADI-R and ADOS
• Study inclusion criteria required elevated scores on both
assessments and onset before 36 months
• Obtained vaccination histories,
• Looked at total antigen exposure, amount per day
• No significant differences
Environmental Factors
• Rutter 1998 study looked at institutionalized children in
Romania sent to the UK
• Experienced horrible living conditions
• 7/165 met criteria for autism based on a screening
questionnaire
• Severe social deprivation may lead to autistic-like social
and emotional difficulties
• Could less severe social deprivation interact with genes
to cause autism in some kids or worsen symptoms?
Treatment
Medication
• Tricyclics and SSRI’s seem to decrease hyperactivity,
anger, and compulsive behaviors (Gordon et al., 1993, Brodkin et al.,
1997)

• Neuroleptics may be effective in reducing hyperactivity,

impulsivity, aggressiveness (Potenza et al., 1999)
• (Obviously)
• Pharmacological interventions have a limited role
Medication
• Double-blind study of 40 kids, given placebo or
haloperidol
• Given semistructured interviews, rated by teachers on
Connors Parent-Teach Questionnaire
• While on haloperidol, kids showed significant decreases
in withdrawl, hyperacitvity, abnormal object relationships,
fidgetiness, negativeism, angry affect, and lability of affect
as compared to baseline or placebo
Therapy
• The key is early intervention!
• This means developing specific measures is crucially
important
• Two types
• Traditional behavior learning (ABA)
• Focus is on adult control and child compliance, uses
positive reinforcement
• Social-pragmatic teaching (child-centered therapy,
incidental teaching)
• Focuses mainly on social skills
• Focus of therapy is on increasing independence and
quality of life
Applied Behavior Analysis
• Gold standard
• Based on behaviorism
• Uses positive reinforcement to decrease maladaptive and
unwanted behaviors, increase adaptive behaviors
• Uses negative reinforcement/negative punishment when necessary
(rarely)
• Treatment can begin when children are as young as 3
• In severe cases, focus is on compliance
• Intensive (20-40 hours/week), one-on-one format
• Targets a wide range of skills
• Includes parents (and important others when possible –
siblings, teachers, etc.)
CBT
• CBT has been modified for ASD kids presenting with
anxiety
• Goal is to remediate social skills in the hopes that this will
translate to decreased anxiety
• Random assignment to 16 sessions of CBT or 3-month
waitlist
• CBT model emphasized adaptive behavior, parental
training, school consultation
• 78% of CBT group had reductions in anxiety on Clinical
Global Impressions-Improvement scale compared to 8.7%
of waitlist
• CBT did not reduce self-reports of anxiety
Virtual Interactive Environments
• Used for teaching social skills, theory of mind
• Practical situations, such as taking the bus, going to the
grocery store
• Some studies use robots (can play games with kids)
• Interactions (eye gaze, tough, contact time) increase
• Not yet known if this generalizes to real life
Complimentary and Alternative Medicine Therapies
(Mostly pseudoscience)

• Auditory integration Training

• Facilitated communication
• Nonverbal/severely handicapped people are
suddenly writing emotional, grammatically correct
messages
• This is due to the facilitator (Bomba et al 1996)
• Viamin B6 and Magnesium
• 30% of children showed improvement in
Martineau (1998) study.
• Other studies show no improvement
• Changes in nutrition
• All are ineffective
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