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AUTISM SPECTRUM DISORDERS AUTISM SPECTRUM DISORDERS ––
COMPLEX SOCIAL PROBLEMCOMPLEX SOCIAL PROBLEM
Prof. Dr. Vladimir Trajkovski
Estonia, March 12, 2019
2
DefinitionDefinition
Autism Spectrum Disorders are developmental
neurological conditions characterized by:
»Delays in social interaction
»Delays in the development of expressive and
receptive language
»Restrictive interests (dinosaurs, computers)
»Repetitive or stereotypical behaviors (rocking,
hand flapping, pacing, echolalia)
»May have difficulty with the acquisition of
motor skills.
3
History
• Described in 1943 by Dr. Leo Kanner
– Study of 11 children
– Early infantile autism
• Characterized by social differences
• Dr. Hans Asperger
– Described milder form of disorder
– Asperger syndrome
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What We Know About Autism
• Autism is a biological disorder with multiple 
etiologies.
• No single cause, no single cure.
• No biological marker.
• No evidence of parenting defects or emotionally 
induced autism (e.g., the “refrigerator mother”).
• Currently, the view is that some factor(s) act 
through one or more mechanism to produced a 
final common pathway of CNS insult that results 
in the behavioral syndrome of autism.
5
StatisticsStatistics
• The prevalence of ASD is currently estimated to be 1 in
59 children in the USA (Baio et al., 2018).
• This figure represents a 151% increase since (CDC) first
began to monitor the prevalence of ASD in 2000
(Christensen et al., 2016).
• Increased prevalence can be explained, in part, by
changes in diagnostic criteria, diagnostic substitution,
improved awareness in the general public, and increased
recognition by clinicians.
• Boys are nearly 4-5 times more likely than girls to have
autism.
• There is no medical detection or cure for autism.
• Over 1.5 million people in the US.
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66
EpidemiologyEpidemiology
7
77
Social impairments
Verbal and non-
verbal
communication
impairments
Repetitive and
stereotyped
patterns of
behaviours
Autism
Neurodevelopmental disorder characterised
by impairments in 3 domains:
General characteristicsGeneral characteristics (1)(1)
Onset before 3 years of age
75% of autistic people have intellectual disability
~30% of cases have epilepsy
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• Sibs affected in 3%: core syndrome
• Sibs affected in 10-20%: spectrum disorder
• Identical twins affected in 60-90%
• Non-identical twins affected in 0-10%
• First-degree relatives increased rates of affective
disorders (depression, bipolar), social phobia, obsessive-
compulsive phenomena, and ”broader phenotype
symptoms”.
• First-degree relatives also show possibly increased
rates of learning disorders including ID, dyslexia and SLI.
• A high heritability (90%) relative to diabetes, asthma,
schizophrenia, hypertension, etc.
General characteristicsGeneral characteristics (2)(2)
9
99
EtiologyEtiology
Unknown
– Initially described as a disorder of 
parenting/“refrigerator mothers”
Neurobiologic disorder
Gene/environment interaction
Role of other systems
– Immune
– Gastrointestinal (GI)
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•• Polygenic disorderPolygenic disorder
•• There are many theories as to theThere are many theories as to the cause of Autismcause of Autism suchsuch
asas…………
•• abnormal cerebral blood flow to areas of the brain,abnormal cerebral blood flow to areas of the brain,
•• high fevers,high fevers,
•• birth trauma,birth trauma,
•• brain injury,brain injury,
•• infections,infections,
•• reactions to vaccinesreactions to vaccines,,
•• lack of oxygen before, during or after delivery.lack of oxygen before, during or after delivery.
• chromosomal -fragile X syndrome, tuberous sclerosis
• genetic -increased risk in twins, sibs
• structural -anatomic, cellular.
Possible cPossible causes ofauses of aautismutism
11
Risk FactorsRisk Factors
• Males
• Monozygotic twins
– 60% for DSM-IV autistic disorder
– 71% for ASD phenotype
– 92% broader phenotype of social and communication
deficits
• Siblings 3-20% (50-100x)
• Increasing maternal age
• Intrauterine infections
– rubella, CMV, herpes, HIV - probably additive brain
trauma rather than distinct ASD etiology.
• Neurotoxin exposure during pregnancy including
(FAS/ARND)
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Risk Factors / Family HistoryRisk Factors / Family History
Genetic loading or genetic etiologiesGenetic loading or genetic etiologies
Dimensional DisorderDimensional Disorder
•• Within families Within families –– broader autistic phenotypebroader autistic phenotype
–– More social difficultiesMore social difficulties
–– Higher cognitive, and executive function deficitsHigher cognitive, and executive function deficits
–– Increased stereotypic behaviorIncreased stereotypic behavior
–– Language and pragmatic disordersLanguage and pragmatic disorders
–– Social problemsSocial problems
–– Anxiety and OCDAnxiety and OCD
–– Affect disordersAffect disorders
–– Schizophrenia, anxiety, bipolar disorderSchizophrenia, anxiety, bipolar disorder
–– LDLD
–– Cognitive Adaptive DisorderCognitive Adaptive Disorder
13
Genetic inheritance of ASD
• Susceptibility genes
• Genetic heterogeneity – very likely to be more than one 
complex genetic form of autism
• Males are about 4 times more likely than females to develop 
ASD.
• Serotonin transporter (5‐HT) gene, SLC6A4, is seen to be 
disrupted with autistic brains.
• No genetic test yet – possible susceptibility test in following 
years.
• Need environmental interaction.
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• Chromosomal and gene disorders 
– Fragile‐X anomaly occurs in 3‐5% of children with 
ASD.
– ASD individuals have a 5% elevated risk for 
chromosomal anomalies.
– About 50% of children with tuberous sclerosis 
have ASD.
Genetic Influences
15
• 15‐20% of siblings of individuals with ASD 
have the disorder
– Broader autism phenotype
• Concordance rates
– 70‐90% in identical twins
– Near 0% for fraternal twins 
– Heritability of an underlying liability for ASD is 
90%
Family and Twin Studies
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• Points to particular areas on many different 
chromosomes as possible locations for genes 
for ASD
– Causally implicated but not a direct cause
– ASD is likely to be a complex genetic disorder
– Expression of  ASD genes may be influenced by 
environmental factors occurring primarily during 
fetal brain development
– Epigenetic dysregulation may be a factor.
Molecular Genetics
17
The chances of recurrence
• Parents more likely to exhibit mild autistic phenotypes
• 15% of fathers of children with ASD have Asperger Syndrome 
(often diagnosed later)
• Fathers and grandfathers of children with autism are twice as 
likely to be engineers
• Brothers of a child with autism have a 7% risk for autism and 
an additional risk of 7% for milder autistic spectrum 
symptoms
• Sisters have a 1% risk, risk for milder symptoms is unknown.
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1818
Studies SuggestStudies Suggest
Larger Environmental RoleLarger Environmental Role
Previous studies suggested strong genetic rolePrevious studies suggested strong genetic role
One study looked at 192 twin pairsOne study looked at 192 twin pairs
–– 54 identical, 138 fraternal54 identical, 138 fraternal
–– Identical twins with 60Identical twins with 60––70% chance of dual70% chance of dual
diagnosesdiagnoses
–– Fraternal twins with 20Fraternal twins with 20––30% chance of dual30% chance of dual
diagnosesdiagnoses
TwoTwo--fold increase risk for ASD when mother on afold increase risk for ASD when mother on a
selective serotonin reuptake inhibitor (SSRI)selective serotonin reuptake inhibitor (SSRI)
Hallmayer J, Cleveland B, Torres A, et al. Genetic heritability and shared environmental factors among twins with autism. Arch 
Gen Psychiatry. Online July 2011; Croen LA, Grether JK, Yoshida CK, et al. Antidepressant use during pregnancy and childhood 
autism spectrum disorders. Arch Gen Psychiatry. Online July 2011.
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Some Genetic Disorders associatedSome Genetic Disorders associated
with Autismwith Autism
•• Fragile X   Fragile X    ~~ 5%5%
•• Tuberous Sclerosis   Tuberous Sclerosis    ~25%~25%
•• Down syndrome    Down syndrome     ~10%~10%
•• AngelmanAngelman syndrome   syndrome    ~40%~40%
•• PraderPrader‐‐WilliWilli syndromesyndrome ~25%~25%
•• San San FilippoFilippo syndromesyndrome ~90%~90%
•• SmithSmith‐‐MagenisMagenis (del 17p11.2) (del 17p11.2)  ~90%~90%
•• VCF/ VCF/ DiGeorgeDiGeorge (del 22q11)(del 22q11) ~25%~25%
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2020
ChromosomalChromosomal ““Hot SpotsHot Spots”” in ASDin ASD
Most commonMost common OthersOthers
15q1115q11‐‐1313 XpXp
7q227q22‐‐3131 18q18q
22q1122q11 17p17p
22q1322q13 17q17q
2q372q37 16p16p
Shaefer and Mendelson, Genet Med 10 (1), 4-12, (2008)
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2121
PossiblePossible aautismutism ssusceptibilityusceptibility
ggenesenes
GENEGENE
•• Immune (HLA)Immune (HLA)
•• Glutamate receptor (GluR6)Glutamate receptor (GluR6)
•• HomeoboxHomeobox (HOXA1)(HOXA1)
•• ReelinReelin (RELN)(RELN)
•• Speech1 (FOXP2) & METSpeech1 (FOXP2) & MET
•• WNT2 & EN2WNT2 & EN2
•• Serotonin Receptor (5Serotonin Receptor (5‐‐HTRHTR‐‐7)7)
•• GABA Receptors (GABRB3)GABA Receptors (GABRB3)
•• UbiquitinUbiquitin‐‐P P LigaseLigase (UBE3A/E6(UBE3A/E6‐‐AP)AP)
•• Serotonin Transporter (5Serotonin Transporter (5‐‐HTR7)HTR7)
•• NeuroliginsNeuroligins (NLGN3 & 4)(NLGN3 & 4)
LOCATIONLOCATION
6p6p
6q6q
7p7p
7q227q22
7q317q31
7q327q32
10q10q
15q15q
15q15q
17q17q
XX
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Characteristics of Autism Characteristics of Autism (1)(1)
•• Social interaction Social interaction 
differencesdifferences
•• Communication Communication 
differencesdifferences
•• Unusual behaviors / Unusual behaviors / 
interestsinterests
•• Sensory DifferencesSensory Differences
•• Need for structure, Need for structure, 
rules, & predictability rules, & predictability 
•• Motor differencesMotor differences
•• Attention differencesAttention differences
•• Cognitive style Cognitive style 
differencesdifferences
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Characteristics of Autism (2)(2)
• Persons with autism may exhibit some of the 
following traits.
– Insistence on sameness; resistance to change 
– Difficulty in expressing needs; uses gestures or 
pointing instead of words 
– Repeating words or phrases in place of normal, 
responsive language 
– Laughing, crying, showing distress for reasons not 
apparent to others 
– Prefers to be alone; aloof manner 
– Tantrums 
– Difficulty in mixing with others 
– May not want to cuddle or be cuddled 
– Little or no eye contact 
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– Unresponsive to normal teaching methods 
– Sustained odd play 
– Spins objects 
– Inappropriate attachments to objects 
– Apparent over‐sensitivity or under‐sensitivity to 
pain 
– No real fears of danger 
– Noticeable physical over‐activity or extreme 
under‐activity 
– Uneven gross/fine motor skills 
– Not responsive to verbal cues; acts as if deaf 
although hearing tests in normal range. 
Characteristics of Autism (3)(3)
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Characteristics lead to:Characteristics lead to:
• Resistance to environmental change.
• Resistance to changes in routine.
• Unusual response to sensory stimuli, 
hypersensitive or hyposensitive.
• Transition difficulty from one activity to the next.
• Few friendships with peers.
• Difficulty taking turns.
• Takes statement literally. 
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Language development
• delayed and deviant
• peculiar use of sounds and words
• Echolalia
• Pronominal reversal - use 'i' where 'you' is
meant and vice-versa
– e.g. 'do you want a drink' instead of 'i want a drink'
• denial of personal identity?
• or just related to echoing
• Use of '-ing'
– 'daddy piping', 'boy bubbling' (boy blowing bubbles)
- 9 yr old autistic girl (Wing, 1976).
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Development of social 
communication
• Within the  first and second year of life 
children develop:
– Sense of self
– Capacity to judge form evidence
– Ability to integrate ideas from past experience
– Ability to appreciate psychological state of 
another person.
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Social communication
• Teasing
• Helping
• Comforting
29
Development of social 
communication
During the first and second year of life 
children
– Show interest in other people
– Show curiosity about feelings and thoughts.
30
Social Communication requires: 
• Joint attention
• Effective reciprocity or emotional sharing
• The ability to realize that another person   
has thoughts and ideas similar to you.
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Theory of Mind
• Understanding the desires of another
• Understanding the emotional state of 
another person
• Having the ability to figure out what a 
person’s intentions are
• Knowledge that what you are thinking can be 
conveyed to others through nonverbal 
means.
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33
Intellectual development
• poor on verbal ability
• may perform above average on memory or 
spatial tasks
• may be talented in music or drawing
• 1/4 have IQ>70. 
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Children with autismChildren with autism
•• DonDon’’t have the basic presupposition that they t have the basic presupposition that they 
are like other people and others are like themare like other people and others are like them
•• Trouble imitating facial expressionsTrouble imitating facial expressions
•• DonDon’’t point or follow objectst point or follow objects
•• DonDon’’t understand false beliefs.t understand false beliefs.
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3535
ImitationImitation
36
3636
Fit Faces with EmotionsFit Faces with Emotions
Social CognitionSocial Cognition
37
3737
Joint AttentionJoint Attention
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If you know one person with autism, you 
don’t know them all
•• They may have different combinations of They may have different combinations of 
characteristics.characteristics.
•• They may have the same characteristics, They may have the same characteristics, 
but in different degrees.but in different degrees.
39
Neuropathology
What developmental processes might lead to a larger brain?
-Increased neurogenesis
-Increased gliogenesis, myelination
-Increased synaptogenesis
-Disturbed migration
-Decreased apoptosis
-Decreased dendritic pruning
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Other brain regions
Cerebellum
-Decreased Purkinje cell number (Kemper and Bauman)
-Decreased Purkinje cell size (Fatemi)
-Decreased neuron size in deep cerebellar nuclei in older, but not young
autistic subjects
Cerebral cortex
-Course, poorly laminated cingulate cortex in 5/6 subjects (Bauman)
-No difference in neuron counts in frontal cortex (Bailey)
But other alterations were visible
-thickened cortices
-high neuronal densities
-irregular laminar patterns
-poor gray-white matter boundries
-Changes in laminar patterns could suggest defects in migration
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Cortical minicolumns in cortical area 4 
lamina III in autism vs control brain
Normal
control brain
ASD brain
Casanova
2006
42
Neurotransmitters
Alterations in many neurotransmitter systems in autism
-Glutamate
-GABA
-Serotonin
-Catecholamines (norepinephrine, dopamine)
-Neuropeptides
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Biological impairments in autismBiological impairments in autism
•• Chronic diarrhea/constipationChronic diarrhea/constipation
•• Yeast/bacterial overgrowth of Yeast/bacterial overgrowth of 
bowelsbowels
•• Inability to clear heavy metalsInability to clear heavy metals
•• Impaired Impaired sulfationsulfation
•• Leaky gut syndromeLeaky gut syndrome
•• Imbalance immune systemImbalance immune system
•• Mineral deficienciesMineral deficiencies‐‐zinc, zinc, 
magnesium, seleniummagnesium, selenium
•• MalabsorptionMalabsorption/malnutrition/malnutrition
•• Impaired neuronal Impaired neuronal 
developmentdevelopment
•• Disrupted Disrupted 
hippocampus/hippocampus/amygdalaamygdala
•• Gluten/casein sensitivityGluten/casein sensitivity
•• Impaired Impaired secretinsecretin signalingsignaling
•• Impaired detoxificationImpaired detoxification
•• Impaired Impaired antioxidationantioxidation
•• OmegaOmega‐‐3 fatty acid 3 fatty acid 
deficiencydeficiency
•• Significant food allergiesSignificant food allergies
•• Impaired pancreatic Impaired pancreatic 
functionfunction
•• Frequent viral and bacterial Frequent viral and bacterial 
infectionsinfections
•• Vitamin deficienciesVitamin deficiencies
•• AutoimmunityAutoimmunity
•• Neurotransmitter Neurotransmitter 
imbalance/dysfunctionimbalance/dysfunction
•• Sensitivity to vaccinationsSensitivity to vaccinations
•• SeizuresSeizures
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4444
Metabolic conditions in association withMetabolic conditions in association with
autism phenotypeautism phenotype
1.1. Disorders of purine metabolismDisorders of purine metabolism
•• Adenylosuccinate lyase (ADSL) deficiency Adenylosuccinate lyase (ADSL) deficiency 
•• Phosphoribosylpyroposhate (PRPP) synthetase superactivityPhosphoribosylpyroposhate (PRPP) synthetase superactivity
2.2. Disorders of pDisorders of pyrimidineyrimidine metabolismmetabolism
•• Dihydropyriminidase (DPD) deficiencyDihydropyriminidase (DPD) deficiency
•• Cytosolic 5Cytosolic 5’’ nucleotidase (NT) superactivitynucleotidase (NT) superactivity
3.3. Unknown sulfatation defectUnknown sulfatation defect
•• UrinUrinee SS‐‐sulfocsulfocyysteinstein
4.4. Disorders of GABA metabolismDisorders of GABA metabolism
•• Succinic semialdehyde dehydrogenase (SSADH) deficiencySuccinic semialdehyde dehydrogenase (SSADH) deficiency
5.5. Disorders of Disorders of creatinecreatine metabolismmetabolism
•• Guanidinoacetate methyltransferase (GAMT) deficiencyGuanidinoacetate methyltransferase (GAMT) deficiency
•• XX‐‐linked creatine transporter defectlinked creatine transporter defect
6.6. Conditions that infer susceptibility to autism phenotypeConditions that infer susceptibility to autism phenotype
•• MonoaminMonoamine e ooxxsidasidasese A (MOA) A (MOA) andand GlGlyyooxxilailasese A (GLYA)A (GLYA)
45
Common Psychiatric
Comorbidities seen with ASD
• ADHD
• Aggression
• Self injurious behaviors 24 – 43%,
• Anxiety Disorders
• Depressive Disorders 9 – 44%
• Obsessive Compulsive Behaviors >40%
• Sleep disturbances
• Sexualized behaviors
• Psychosis
• Tics
46
Learning Disabilities
• Some  children  with  autism  have 
diagnosable  learning  disabilities  such  as 
dyslexia, while others have unusual abilities 
such as hyperlexia (the ability to read at an 
extremely young age). 
• Some have a very tough time gaining basic 
math  skills;  others  are  mathematical 
"savants,“ achieving far beyond their grade 
level.
47
ADHD symptoms in ASD
Inattention
• difficulty in shifting their attention from one task 
to another
• Focused on object of interest
Over activity
• Anxiety
• stereotypic behavior
• agitated depression or even mania
Aggression:
• sometimes incorrectly attributed to hyperactivity
48
ADHD symptoms in ASD
In early childhood
• hyperactivity
• stereotyped behaviors
• irritability and temper tantrums
Later
• aggressiveness/self injurious behavior
• stereotypic behaviors
In adolescence and adulthood:
• esp. in higher functioning individuals depression or OCD 
may develop and interfere with functioning.
49
Serious Emotional Disturbances
• It  can  also  be  tough  to  distinguish 
between  mood  disorders  and  bipolar 
disorder,  schizophrenia,  and  autistic 
behaviors. 
• It is not unusual for a person with autism 
to also have a mental health diagnosis of 
bipolar  disorder,  clinical  depression, 
obsessive  compulsive  disorder  or 
schizophrenia.
50
Behavioral Issues
• Common reason for presentation to 
mental health services
• 20% with severe intellectual disability 
have some form of severe behavioral 
disorder
• Problem behaviors: self harm/aggression 
to others
• Significantly disabling/ not responding to 
other measures.
51
Sleep problems
• The cause of sleep problems in autistic 
children is unknown.
• Social cues may be important in addition to 
the light dark cycle.
• A perseveration of thoughts and anxieties 
at bedtime or during night awakenings may 
be important.
• There is some evidence that melatonin 
levels are lower in autistic children.
52
Epilepsy
• Most common medical disorder is intellectual disability.
• 20% of autistic children between the ages of 1 and 18 
years suffer some kind of epileptic seizures. 
(Munoz‐Yuna et al., 2003)
Incidence
• 8 – 18% of mild cases
• 30 – 36% of severe cases
• 25% of all children with intellectual disability and epilepsy 
have autism.
• In more severe cases, stereotypes and involuntary 
movements may be difficult to distinguish from epilepsy.
53
Epilepsy
• Combination medication regimens address 
both seizures and behavioral emotional 
difficulties.
• Anticonvulsants suppress seizures, 
aggressive behavior & impulsivity in 
children with PDD.
• Initiated as monotherapy often not 
sufficient.
• Combination of neuroleptic & 
anticonvulsant preparations needed for 
better symptom control.
54
Autism assessment‐testing
• speech, language, communication
• developmental 
• genetics
• hearing
• cognitive, psychoeducational
• neuropsychological 
• psychiatric
55
Assessment for ASDAssessment for ASD
•• Should include direct assessment of cognitive Should include direct assessment of cognitive 
skills/  development,  language,  adaptive skills/  development,  language,  adaptive 
functioning, and behavior whenever possible.functioning, and behavior whenever possible.
•• Diagnosis  should  be  based  on  parent Diagnosis  should  be  based  on  parent 
interview,  direct  observation  (Autism interview,  direct  observation  (Autism 
Diagnostic  Observation  Schedule)  and,  if Diagnostic  Observation  Schedule)  and,  if 
possible, teacher observations.possible, teacher observations.
56
Autism assessment‐instruments (1)
•parent report –
• Modified Checklist for Autism in Toddlers [M‐CHAT] ‐
screening
• Childhood Autism Rating Scale [CARS]
• Gilliam Autism Rating Scale [GARS‐2]
• Social Communication Questionnaire [SCQ]
•parent history –
• Autism Diagnostic Interview [ADI‐R]
57
Autism assessment‐instruments (2)
•behavioral data –
• Functional Analysis of Behavior, menu of 
reinforcers/ motivators
•observation/ interview –
• Autism Diagnostic Observation Schedule 
[ADOS] modules 1‐4
Lord et al., 2000
58
DiagnosisDiagnosis
•• Diagnosis in young childrenDiagnosis in young children
–– Autism can be reliably diagnosed as young as 2 Autism can be reliably diagnosed as young as 2 
yearsyears
–– More variability with children with early diagnoses More variability with children with early diagnoses 
of PDD NOSof PDD NOS
–– Repetitive behaviors are less common in both Repetitive behaviors are less common in both 
very young children and highvery young children and high‐‐functioning functioning 
adolescents and adultsadolescents and adults
59
DSMDSM‐‐5 Criteria: Social Communication5 Criteria: Social Communication
Persistent deficits in social communication and social 
interaction across contexts, not accounted for by 
general developmental delays, manifested by all of 
the following:
– Deficits in social‐emotional reciprocity
– Deficits in nonverbal communicative behaviors
– Deficits in developing and maintaining relationships 
appropriate to the developmental level. 
60
DSMDSM‐‐5 Criteria:5 Criteria:
Restricted/Repetitive BehaviorsRestricted/Repetitive Behaviors
Restricted, repetitive patterns of behavior, interests, 
or activities as manifested by at least 2 of the 
following:
– Stereotyped or repetitive speech, motor movements, or 
use of objects
– Excessive adherence to routines
– Highly restricted, fixated interests that are abnormal in 
intensity or focus
– Hyper‐ or hypo‐reactivity to sensory input or unusual 
sensory interests
61
Adolescents
• Continued difficulty with social and pragmatic 
language
• Some seek to develop social skills
• Refinement of special interests
• Increased anxiety, some have deterioration 
but regain later.
62
Adults
• Vastly differing outcomes
• 1/3  able  to  care  for  self,  achieve  some 
independence,  have  some  friends,  live 
independently or with support, work
• Nearly 70% have fair to good language
• Marriage is rare.
63
Adults continued
• About 45% have poor outcome
• Dependent on family or living in residential 
setting
• Major seizures, behavioral problems, 
continued dependency
• Increased rates of depression and anxiety
64
Intervention
• Early identification
• Speech‐Language Therapy
• Occupational Therapy
• Physical Therapy
• Interaction with same aged normal peers.
65
Intervention
• Development of a communication system
• Picture Exchange Communication System (PECS)
• Visual schedules
• Visual cues
• Social skills training
• Social stories
• Play groups
66
Intervention
• Analysis of behavior for appropriate behavioral 
intervention (e.g., ABA)
– Intensive behavioral approach 
– Goal is to teach children how to learn by focusing on 
building blocks of development
• Developmental, individual‐difference, relationship‐
based (DIR) / Floortime
– Use of play to build relatedness (e.g., warmth, pleasure, 
meaningful communication, creativity)
67
68
Educational Intervention (1)
• Teachers need specific training in the education of 
children with Autism
• Intensive Speech‐Language therapy
– Collaboration between therapist, parents, and teacher is 
critical
• Promote behaviors with positive behavioral 
strategies
• Use of visual and manipulative educational 
materials.
69
Educational Intervention (2)
• Visual communication aids
– Visual schedule, chart of daily activities
• Social skills training
– Social stories
– Positive reinforcement for positive behaviors.
70
Key Issues for Intervention
• Early intervention is critical
• Communication
• Social Skills Development
• Gradual increase in prosocial behaviors
• Development of self & awareness of others.
71
Medication
• There are no medications that “cure” Autism.  
• Medication should be used for specific 
symptoms. 
72
Specific symptoms for 
medication
• Anxiety
• Obsessive‐Compulsive behaviors
• Depression
• Self abusive behaviors
• Aggression
• Sleep deprivation
73
Medications Used
• Selective Sertonin Reuptake Inhibitors (SSRI)
• Prozac (Fluoxetine)
• Zoloft (Sertraline)
• Celexa (Citalopram)
• Neuroleptics
• Risperdal (Risperidone)
• Zyprexa (Olanzapine)
• Geodon (Ziprasidone)
• Abilify (Aripiprazole)
74
Medications Used Continued
• Alpha adrenergic agonists
• Clonidine
• Guanfacine
• Mood stabilizers
• Depakote (Valproic acid)
• Tegretol (Carbamazepine)
• Antiopiod
• Naltrexone
75
Complementary and Alternative Therapies
• Gluten‐Casein Free Diet
• Based on toxicologic opioid hypothesis
• Nutritional Supplements
• Based on hypothesis that minerals and/or vitamins improve 
“autistic behaviors”
• Immune globulin therapy
• Based on assumption Autism is an autoimmune 
abnormality
• Secretin
• Intravenous hormone that stimulates pancreas and liver to 
manage “autistic behaviors”
• Chelation
• Based on hypothesis that mercury exposure is cause of 
Autism
76
Prognosis and Course (1)
• Prognosis is highly dependent upon the level of 
functioning
• By school age, autistic children can be divided into 
three groups:
1. Low Functioning
*Verbal and non‐verbal IQ < 70 
(about 50% of affected children)
2. Mid‐Functioning
*Non‐verbal IQ > 70 but verbal IQ < 70
(about 25% of affected children)
3. High Functioning
*Verbal and non‐verbal IQ > 70
(about 25% of affected children)
77
Prognosis and Course (2)
• Some children with autism show improvement in 
adolescence which is related to good adult outcome:
– Activity level usually decreases
– Behavior becomes more manageable
– Self‐help skills improve
– Communication continues to develop
– IQ usually remains stable
– Usually become more social
• A large percentage (10 – 25%?) of children will develop 
seizures (all types) as they age.
78
Prognosis and Course (3)
• Anxiety and depression are the most commonly 
co‐occurring psychiatric disorders in adults with 
autism
• Factors known to be related to outcome:
– IQ by age 5 – 6 years
– Communication skills by age 5 years
– Early educational intervention
• Factors not known to be related to outcome:
– Family history of neuropsychiatric disorders
– Adequacy of parenting
– Family atmosphere.
79
Conclusions Conclusions (1)(1)
•• Autism  is  a  complex  neurodevelopment  disorder  which  is Autism  is  a  complex  neurodevelopment  disorder  which  is 
serious social, medical and mental health problem.serious social, medical and mental health problem.
•• Autism is characterized by: social deficits; communication Autism is characterized by: social deficits; communication 
deficits; repetitive behaviorsdeficits; repetitive behaviors
•• Evidence  for  autism  as  executive  disorder  at  cognitive  & Evidence  for  autism  as  executive  disorder  at  cognitive  & 
biological levels.biological levels.
•• Genetic basis plus environmental events.Genetic basis plus environmental events.
•• Autism has epidemic prevalence.Autism has epidemic prevalence.
•• ComorbidComorbid disorders are very frequent in ASD.disorders are very frequent in ASD.
•• Authorities  who  create  social  policy  must  establish  services Authorities  who  create  social  policy  must  establish  services 
and should take better social care for them.and should take better social care for them.
80
8080
Conclusions (2)(2)
Currently, diagnosable medical conditions, cytogeneticCurrently, diagnosable medical conditions, cytogenetic
abnormalities, and singleabnormalities, and single--gene defects together accountgene defects together account
around 10%around 10%--15% of cases.15% of cases.
A wealth of linkage, and cytogenetic and candidate gene
studies have implicated several regions of the genome that
may harbor autism susceptibility genes.
Identifying and mapping homologous genes in different
species will also aid in the prediction of likely gene
function.
There is still no prenatal diagnosis of autism.
Parents who have one child with idiopathic autism have aParents who have one child with idiopathic autism have a
7%7% to have another child with autism.to have another child with autism.

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