Prof. Dr. Vladimir Trajkovski-predavanje autizam - Erasmus plus-Blagoevgrad

11
UniversityUniversity ““St.St. KirilKiril andand MetodijMetodij””
Faculty of PhilosophyFaculty of Philosophy
Institute of Special Education and RehabilitationInstitute of Special Education and Rehabilitation
AUTISM ENIGMA ORAUTISM ENIGMA OR
SOLVED PROBLEMSOLVED PROBLEM
Prof. Dr. Vladimir Trajkovski
Blagoevgrad, March 18, 2015

22
Definition of AutismDefinition of Autism
markedly abnormal or impairedmarkedly abnormal or impaired
development indevelopment in::
social interactionsocial interaction
communicationcommunication
and markedly restricted repertoireand markedly restricted repertoire
of activities and interests.of activities and interests.

33
Autism is considered aAutism is considered a spectrumspectrum ofof
disorders that share manydisorders that share many
characteristicscharacteristics –– (called Pervasive(called Pervasive
Developmental Disorders in DSMDevelopmental Disorders in DSM--IV).IV).
AutismAutism
AspergerAsperger’’ss SyndromeSyndrome
PDD/NOSPDD/NOS
RettRett’’ss SyndromeSyndrome
Childhood Disintegrative SyndromeChildhood Disintegrative Syndrome
DSM V is likely to call these all “Autism Spectrum
Disorders”

44
Social impairments
Verbal and non-
verbal
communication
impairments
Repetitive and
stereotyped
patterns of
behaviours
Autism
Neurodevelopmental disorder characterised
by impairments in 3 domains:
IntroductionIntroduction (1)(1)
Onset before 3 years of age
Population prevalence of autism is ~60 per 10,000.
Male to female ratio of ~3-4:1.
75% of autistic people have intellectual disability
~30% of cases have epilepsy

55
Sibs affectedSibs affected in 3%: core syndromein 3%: core syndrome
Sibs affectedSibs affected in 10in 10--20%: spectrum disorder20%: spectrum disorder
Identical twinsIdentical twins affected in 60affected in 60--90%90%
NonNon--identical twinsidentical twins affected in 0affected in 0--1010%%
FirstFirst--degree relativesdegree relatives increased rates of affectiveincreased rates of affective
disorders (depression, bipolar), social phobia, obsessivedisorders (depression, bipolar), social phobia, obsessive--
compulsive phenomena, andcompulsive phenomena, and ””broader phenotypebroader phenotype
symptomssymptoms””..
FirstFirst--degree relatives also showdegree relatives also show possibly increasedpossibly increased
rates of learning disorders including ID, dyslexia and SLIrates of learning disorders including ID, dyslexia and SLI..
A high heritabilityA high heritability (90%)(90%) relative to diabetes, asthma,relative to diabetes, asthma,
schizophrenia, hypertension, etcschizophrenia, hypertension, etc..
IntroductionIntroduction (2)(2)

66
EpidemiologyEpidemiology
Increase in prevalenceIncrease in prevalence
–– 19661966--1991: 4.4 cases per 10,0001991: 4.4 cases per 10,000
–– 19921992--2001: 12.7 cases per 10,0002001: 12.7 cases per 10,000
Factors that complicate interpretationFactors that complicate interpretation
–– changes in diagnostic practicechanges in diagnostic practice
–– Increased awareness of the disorderIncreased awareness of the disorder
–– earlier diagnosisearlier diagnosis
–– educational diagnoseseducational diagnoses

77
EPA exposure guidelines are forEPA exposure guidelines are for methylmercurymethylmercury
–– Low dose exposure primarily from fish or whaleLow dose exposure primarily from fish or whale
consumptionconsumption
ThimerosalThimerosal containscontains ethylmercuryethylmercury
–– Few studies of exposure in humansFew studies of exposure in humans
Applicability ofApplicability of methylmercurymethylmercury guidelines toguidelines to
ethylmercuryethylmercury exposure?exposure?
–– Recent pharmacokinetic studies suggest thatRecent pharmacokinetic studies suggest that
ethylmercuryethylmercury has a much shorter halfhas a much shorter half--life thanlife than
methylmercurymethylmercury

88
A More Recent StudyA More Recent Study
Study in South KoreaStudy in South Korea
–– 1 in 38 children diagnosed with ASD (71 in 38 children diagnosed with ASD (7––12 years of age)12 years of age)
–– Collaboration with researchers at Yale Child Study CenterCollaboration with researchers at Yale Child Study Center
–– Typical children and children in special educationTypical children and children in special education
participated in a 2 level screening/evaluation processparticipated in a 2 level screening/evaluation process
–– A large number identified in typical schoolsA large number identified in typical schools
•• 16% with intellectual disability16% with intellectual disability
•• 12% with superior intelligence12% with superior intelligence
•• 2/3 with milder form2/3 with milder form
Kim YS, Leventhal BL, Koh YJ, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry.
2011;168(9):904–912.

99
*Recent research has indicated that changes in diagnostic practices may account for at least 25% of the increase in prevalence
over time, however much of the increase is still unaccounted for and may be influenced by environmental factors.
©2012 Autism Speaks Inc. Autism Speaks and Autism Speaks It’s Time to Listen & Design are trademarks owned by Autism Speaks
Inc. All rights reserved.

1010
““TrueTrue”” increase orincrease or ““epidemic?epidemic?””
Increased awareness, broader diagnosticIncreased awareness, broader diagnostic
criteria, diagnostic substitutioncriteria, diagnostic substitution……
Probably a little of bothProbably a little of both……

1111
NIH Research DollarsNIH Research Dollars
Devoted to AutismDevoted to Autism
When compared with otherWhen compared with other
serious childhood conditions,serious childhood conditions,
autism is much more common,autism is much more common,
but fewer dollars per case arebut fewer dollars per case are
spent on autism.spent on autism.

1212
0
10
20
30
40
50
60
70
Autism Juvenile DiabetesMuscular Dystrophy Leukemia Cystic Fibrosis
Prevalence of Autism and Other Conditions
(Number of Cases per 10,000 Children)

1313
$-
$20,000
$40,000
$60,000
$80,000
$100,000
$120,000
$140,000
Autism Juvenile Diabetes Muscular Dystrophy Leukemia Cystic Fibrosis
NIH Research Dollars for Autism and Other
Conditions
(Number of Dollars per Case)

1414
Vaccine TheoryVaccine Theory
Onset of autismOnset of autism
–– Early onset with progressionEarly onset with progression
–– 30% have history o regression 1230% have history o regression 12--24 months24 months –– NoNo
established definition ~ MMR recommendation 12established definition ~ MMR recommendation 12--
15 months15 months
1998 Wakefield (Lancet, 1998) small circumstantial1998 Wakefield (Lancet, 1998) small circumstantial
case series of MMR association with GI symptoms,case series of MMR association with GI symptoms,
autistic regressionautistic regression –– article later retracted by Lancetarticle later retracted by Lancet
California Dept of Developmental services 273%California Dept of Developmental services 273%
increase in autism 1987increase in autism 1987--19981998
–– Well after 1971 introduction of MMRWell after 1971 introduction of MMR
–– Study also confirms also not to change in DSMStudy also confirms also not to change in DSM
criteria.criteria.

1515
ThimerosalThimerosal TheoriesTheories
ThimerosalThimerosal ((ethylmercuryethylmercury) used since 1930s in) used since 1930s in
vaccinevaccine
–– Prior to 2001 vaccines exposed children to >EPAPrior to 2001 vaccines exposed children to >EPA
recommendedrecommended ethylmercuryethylmercury limitslimits
–– Since 3/01 all vaccines availableSince 3/01 all vaccines available thimerosalthimerosal freefree
Prenatal exposure toPrenatal exposure to methylmethylmercurymercury associatedassociated
withwith neurodevelopmentalneurodevelopmental abnormalitiesabnormalities
Similarities but differences between signs ofSimilarities but differences between signs of
mercury poisoning and autismmercury poisoning and autism
Rapid excretion and low blood levels ofRapid excretion and low blood levels of
ethylmercuryethylmercury
NIH and CDC studies showed no relationshipNIH and CDC studies showed no relationship
withwith thimerosalthimerosal

1616
Is there an epidemic?Is there an epidemic?
More cases than in the past? YESMore cases than in the past? YES
Is the increase attributable to changeIs the increase attributable to change
in real risk?in real risk?
–– CanCan’’tt rule outrule out changes in diagnosis orchanges in diagnosis or
that we are diagnosingthat we are diagnosing ““betterbetter””
–– CanCan’’tt rule inrule in increases in real risk becauseincreases in real risk because
etiology and all the risk factors are notetiology and all the risk factors are not
knownknown

1717
gun bullet
damage
Autism: A new paradigmAutism: A new paradigm

1818
EtiologyEtiology
UnknownUnknown
–– Initially described as a disorder ofInitially described as a disorder of
parenting/parenting/““refrigerator mothersrefrigerator mothers””
NeurobiologicNeurobiologic disorderdisorder
Gene/environment interactionGene/environment interaction
Role of other systemsRole of other systems
–– ImmuneImmune
–– Gastrointestinal (GI)Gastrointestinal (GI)

1919
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

2020
Risk FactorsRisk Factors
MalesMales
Monozygotic twinsMonozygotic twins
–– 60% for DSM60% for DSM--IV autistic disorderIV autistic disorder
–– 71% for ASD phenotype71% for ASD phenotype
–– 92% broader phenotype of social and communication92% broader phenotype of social and communication
deficitsdeficits
SiblingsSiblings 33--20% (5020% (50--100x)100x)
Increasing maternal ageIncreasing maternal age
Intrauterine infectionsIntrauterine infections
–– rubella, CMV, herpes, HIVrubella, CMV, herpes, HIV -- probably additive brain traumaprobably additive brain trauma
rather than distinct ASD etiologyrather than distinct ASD etiology
Neurotoxin exposure during pregnancy includingNeurotoxin exposure during pregnancy including
ETOH (FAS/ARND)ETOH (FAS/ARND)

2121
Risk Factors / Family HistoryRisk Factors / Family History
Genetic loading or genetic etiologiesGenetic loading or genetic etiologies
Dimensional DisorderDimensional Disorder
Within familiesWithin 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

2222
GeneticsGenetics
Complex, yet strong genetic factors influencingComplex, yet strong genetic factors influencing
Strongest evidence from twin studies with 60%Strongest evidence from twin studies with 60%
of monozygotic twins concordant for fullof monozygotic twins concordant for full
syndrome; 90% for related social or cognitivesyndrome; 90% for related social or cognitive
abnormalitiesabnormalities
Risk of any form of PDD for sibling ofRisk of any form of PDD for sibling of probandproband
with autism as high as 5%with autism as high as 5%
Relatives may be affected by difficulties that areRelatives may be affected by difficulties that are
conceptually related to autistic behaviorsconceptually related to autistic behaviors
(broader autistic phenotype)(broader autistic phenotype)

2323
Recent Studies SuggestRecent Studies Suggest
Larger Environmental RoleLarger Environmental Role
Previous studies suggested strong genetic rolePrevious studies suggested strong genetic role
Current study looked at 192 twin pairsCurrent 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.

2424
SyndromalSyndromal vsvs Pure AutismPure Autism
Pure Autism (nonPure Autism (non syndromalsyndromal)) --Limited toLimited to
moderate mental retardation to normalmoderate mental retardation to normal
intellectual functioning and nointellectual functioning and no
associated signs or symptoms (exceptassociated signs or symptoms (except
seizures).seizures).
SyndromalSyndromal autismautism-- one or moreone or more
morphologic signsmorphologic signs-- estimated at ~20%estimated at ~20%
Cohen et al JADD 2005Cohen et al JADD 2005

2525
Some Genetic Disorders associatedSome Genetic Disorders associated
with Autismwith Autism
Fragile XFragile X ~~ 5%5%
Tuberous SclerosisTuberous Sclerosis ~25%~25%
Down syndromeDown syndrome ~10%~10%
AngelmanAngelman syndromesyndrome ~40%~40%
PraderPrader--WilliWilli syndromesyndrome ~25%~25%
SanSan FilippoFilippo syndromesyndrome ~90%~90%
SmithSmith--MagenisMagenis (del 17p11.2)(del 17p11.2) ~90%~90%
VCF/VCF/ DiGeorgeDiGeorge (del 22q11)(del 22q11) ~25%~25%

2626
Autism: Genetic Etiologies?Autism: Genetic Etiologies?
The high concordance in MZ twinsThe high concordance in MZ twins
indicates a high degree of genetic control.indicates a high degree of genetic control.
The rapid fall off of concordance in DZThe rapid fall off of concordance in DZ
twins suggested atwins suggested a multilocusmultilocus,, epistaticepistatic
model.model.
Caveats:Caveats: EpigeneticsEpigenetics & Mitochondria& Mitochondria

2727
Potential Benefits of findingPotential Benefits of finding
Genes in AutismGenes in Autism
Earlier, more precise, diagnosisEarlier, more precise, diagnosis,,
Understanding the biochemical chainUnderstanding the biochemical chain
of events that lead to autism for betterof events that lead to autism for better
biomedical treatmentsbiomedical treatments..

2828
Steps in Finding Autism GenesSteps in Finding Autism Genes
Does the disorder run in families?Does the disorder run in families?
If so, is that due to genetic factors?If so, is that due to genetic factors?
If so, can chromosomal regions that carryIf so, can chromosomal regions that carry
susceptibility genes be identified?susceptibility genes be identified?
If so, can the genes that cause the disorderIf so, can the genes that cause the disorder
be identified?be identified?
How do genetic variants cause autism?How do genetic variants cause autism?

2929
Approaches to identifyApproaches to identify
susceptibility genessusceptibility genes
• LINKAGE studies using non-parametric
methods (allele sharing methods)
• ASSOCIATION studies
• Chromosomal abnormalities
Copy number variation
candidate genes
whole genome

3030
CytogCytogeneticsenetics of autismof autism
Preliminary genome wide screenings indicatePreliminary genome wide screenings indicate
loci on at least 21 chromosomes.loci on at least 21 chromosomes.
ChrsChrs 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12,1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12,
13, 15, 16, 17, 18, 19, 20, 22, X13, 15, 16, 17, 18, 19, 20, 22, X
CytogeneticCytogenetic Abnormalities have been reportedAbnormalities have been reported
in 5in 5--7% of cases7% of cases..
IMGSAC et al. Hum. Mol Genet. 7(3):571IMGSAC et al. Hum. Mol Genet. 7(3):571--578, 1998578, 1998
Philippe et al. Hum Mol. Genet. 8(5);805Philippe et al. Hum Mol. Genet. 8(5);805--812, 1999812, 1999
Liu et al. Am. J. Hum. Genet. 68;327Liu et al. Am. J. Hum. Genet. 68;327--340, 2001340, 2001
YonanYonan et al. Am J. Hum. Genet. 73(4):2003et al. Am J. Hum. Genet. 73(4):2003

3131
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)

3232
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--PP 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

3333
Characteristics of AutismCharacteristics of Autism
Spectrum DisordersSpectrum Disorders
Social interactionSocial interaction
differencesdifferences
CommunicationCommunication
Unusual behaviors /Unusual behaviors /
interestsinterests
Sensory DifferencesSensory Differences
Need for structure,Need for structure,
rules, & predictabilityrules, & predictability
Motor differencesMotor differences
AttentionAttention
Cognitive styleCognitive style

3434
Clinical featuresClinical features
Inability to relate to children or adultsInability to relate to children or adults

3535Poor speech or lack of speechPoor speech or lack of speech

3636Oversensitivity or undersensitivity to noisesOversensitivity or undersensitivity to noises

3737Inappropriate toy playInappropriate toy play

3838Difficulty dealing with changes in routineDifficulty dealing with changes in routine

3939Inappropriate laughter or cryingInappropriate laughter or crying

4040Lack of awareness of dangerLack of awareness of danger

4141Hyperactivity or passivenessHyperactivity or passiveness

4242Oversensitivity or undersensitivity to touchOversensitivity or undersensitivity to touch

4343Strange attachment to objectsStrange attachment to objects

4444Lack of eye contactLack of eye contact

4545
Children with autismChildren with autism
DonDon’’t have the basic presuppositiont have the basic presupposition
that they are like other people andthat they are like other people and
others are like themothers are like them
Trouble imitating facial expressionsTrouble imitating facial expressions
DonDon’’t point or follow objectst point or follow objects
DonDon’’t understand false beliefst understand false beliefs

4747
Fit Faces with EmotionsFit Faces with Emotions
Social CognitionSocial Cognition

4848
Joint AttentionJoint Attention

4949
If you know one person withIf you know one person with
autism, youautism, you dondon’’tt know them allknow them all
They may have different combinationsThey may have different combinations
of characteristics.of characteristics.
They may have the sameThey may have the same
characteristics, but in differentcharacteristics, but in different
degrees.degrees.

5050
Social InteractionSocial Interaction
DifferencesDifferences
The core issue:The core issue:
““theory of mindtheory of mind””
SharingSharing
attention/perspectiveattention/perspective
with otherswith others
Reading andReading and
understandingunderstanding
othersothers’’ verbal &verbal &
nonverbal cuesnonverbal cues
Figuring out thoseFiguring out those
unwrittenunwritten ““rulesrules”” MayMay
not want interaction,not want interaction,
may want it but notmay want it but not
know howknow how
Aloof, passive,Aloof, passive,
active/oddactive/odd
Eye contactEye contact

5151
DifferencesDifferences
NonverbalNonverbal
VerbalVerbal

5252
Differences (Nonverbal)Differences (Nonverbal)
Expressing oneselfExpressing oneself
in nonverbal waysin nonverbal ways
InterpretingInterpreting
nonverbalnonverbal
expression ofexpression of
othersothers

5353
Communication DifferencesCommunication Differences
(Verbal): Receptive difficulty(Verbal): Receptive difficulty
–– Understanding isUnderstanding is
literal & concrete,literal & concrete,
difficulty dealing withdifficulty dealing with
ambiguityambiguity
–– Understanding ofUnderstanding of
idiomidiom
–– Difficulty processingDifficulty processing
large amounts oflarge amounts of
languagelanguage

5454
Communication DifferencesCommunication Differences
(Verbal): Expressive Difficulty(Verbal): Expressive Difficulty
Tone, pitch, precisionTone, pitch, precision
Register: adjustment toRegister: adjustment to
social situationsocial situation
Pragmatics (practical,Pragmatics (practical,
social use of language)social use of language)
Tangential andTangential and
circumstantial speechcircumstantial speech

5555
Unusual Behaviors /Unusual Behaviors /
InterestsInterests
Unusual object useUnusual object use
Repetitive behaviors,Repetitive behaviors,
compulsionscompulsions
Restricted interests, obsessionsRestricted interests, obsessions

5656
Sensory DifferencesSensory Differences
Any sense orAny sense or
combinationscombinations
OversensitiveOversensitive oror
undersensitiveundersensitive
Can be bothCan be both

5757
Need for Structure &Need for Structure &
PredictabilityPredictability
Change or ambiguity are very difficult!Change or ambiguity are very difficult!
Rules are carved in stone!Rules are carved in stone!
When things become tooWhen things become too
unpredictable or donunpredictable or don’’t follow what thet follow what the
child is expecting, high anxiety andchild is expecting, high anxiety and
possible meltdowns follow.possible meltdowns follow.

5858
Motor DifferencesMotor Differences
Gross motorGross motor
(clumsiness)(clumsiness)
Fine motor &Fine motor &
handwritinghandwriting

5959
Attention DifferencesAttention Differences
Often first diagnosis is ADD or ADD/HOften first diagnosis is ADD or ADD/H
Can beCan be overfocusedoverfocused oror underfocusedunderfocused
Often short attention span except forOften short attention span except for
special interestsspecial interests

6060
Cognitive Style Differences ICognitive Style Differences I
Variable intelligenceVariable intelligence -- anywhere fromanywhere from
brilliant to mentally handicapped andbrilliant to mentally handicapped and
anywhere in betweenanywhere in between
Within an individual, unevenWithin an individual, uneven
development, pronounced highs anddevelopment, pronounced highs and
lowslows
Difficulty selecting what is relevantDifficulty selecting what is relevant

6161
Cognitive Style Differences IICognitive Style Differences II
ConcreteConcrete rather than abstractrather than abstract
VisualVisual rather than verbalrather than verbal
InflexibleInflexible rather than flexiblerather than flexible

6262
Structuring for Success:Structuring for Success:
Proactive MeasuresProactive Measures
ProvidingProviding
ReducingReducing
FrustrationFrustration
InstructionalInstructional
PracticesPractices
Explicit Teaching ofExplicit Teaching of
Social SkillsSocial Skills
ParentParent -- SchoolSchool
communicationcommunication

6363
Providing PredictabilityProviding Predictability
Daily written orDaily written or
picture schedulepicture schedule
The scheduleThe schedule isis thethe
routine.routine.
Activity checklistsActivity checklists
Hang up coat
Sharpen pencil
Daily oral language
Number of the day
BREAK
SCHEDULE

6464
Reducing Frustration (I)Reducing Frustration (I)
Building inBuilding in
breaks/downtimebreaks/downtime
Providing a quietProviding a quiet
area (relaxing, notarea (relaxing, not
punishment)punishment)
Use of music orUse of music or
repetitive/preferredrepetitive/preferred
activitiesactivities
Hang up coat
Sharpen pencil
Daily oral language
Number of the day
BREAKBREAK
SCHEDULE

6565
Reducing Frustration (II)Reducing Frustration (II)
Be positive.Be positive.
Use short simpleUse short simple
sentences.sentences.
Watch to catch thingsWatch to catch things
before they get out ofbefore they get out of
hand.hand.
Watch for sensoryWatch for sensory
overload.overload.
Look at alternatives toLook at alternatives to
stressful activities.stressful activities.

6666
Instructional Practices (I)Instructional Practices (I)
VISUAL, concreteVISUAL, concrete
presentation ofpresentation of
information (graphicinformation (graphic
organizers, thinkingorganizers, thinking
maps)maps)
Repetitive formats,Repetitive formats,
formulas for some tasksformulas for some tasks
Limit amount of newLimit amount of new
information at a timeinformation at a time

6767
Instructional Practices (II)Instructional Practices (II)
Use interests & enthusiasms.Use interests & enthusiasms.
PreteachPreteach concepts and vocabulary.concepts and vocabulary.
Gradually reduce prompts/structures toGradually reduce prompts/structures to
increase independence.increase independence.
Look at longLook at long--term needs of student.term needs of student.

6868
Teach Social SkillsTeach Social Skills
ExplicitlyExplicitly
Structured pairStructured pair--upsups
(buddies)(buddies)
Teach the otherTeach the other
children about autismchildren about autism
so they willso they will
understand this child.understand this child.
New skills in knownNew skills in known
situations, knownsituations, known
skills in new situationsskills in new situations

6969
Keep Close CommunicationKeep Close Communication
with Parentswith Parents
NotebookNotebook
ChecklistChecklist
PhonePhone

7070
Dealing with Problem BehaviorsDealing with Problem Behaviors
Questions to askQuestions to ask
yourselfyourself
Developing a planDeveloping a plan
Redirection vs.Redirection vs.
confrontationconfrontation
Removal to quietRemoval to quiet
areaarea

7171
Redirection vs. ConfrontationRedirection vs. Confrontation
Be matter of fact.Be matter of fact.
Use shortUse short
sentences.sentences.
Write or drawWrite or draw
rather than talk.rather than talk.
Limit touch andLimit touch and
talk.talk.
Confrontation willConfrontation will
likely escalatelikely escalate
behavior.behavior.

7272
Removal to Quiet AreasRemoval to Quiet Areas
Within room orWithin room or
outside of roomoutside of room
Not a punishment,Not a punishment,
but a calming time.but a calming time.
This is notThis is not ““givinggiving
in!in!””

7373
Biological impairments inBiological impairments in
autismautism
Chronic diarrhea/constipationChronic diarrhea/constipation
Yeast/bacterial overgrowth ofYeast/bacterial overgrowth of
bowelsbowels
Inability to clear heavyInability to clear heavy
metalsmetals
ImpairedImpaired sulfationsulfation
Leaky gut syndromeLeaky gut syndrome
Imbalance immune systemImbalance immune system
Mineral deficienciesMineral deficiencies--zinc,zinc,
magnesium, seleniummagnesium, selenium
MalabsorptionMalabsorption/malnutrition/malnutrition
Impaired neuronalImpaired neuronal
developmentdevelopment
DisruptedDisrupted
hippocampus/hippocampus/amygdalaamygdala
Gluten/casein sensitivityGluten/casein sensitivity
ImpairedImpaired secretinsecretin signalingsignaling
Impaired detoxificationImpaired detoxification
ImpairedImpaired antioxidationantioxidation
OmegaOmega--3 fatty acid3 fatty acid
deficiencydeficiency
Significant food allergiesSignificant food allergies
Impaired pancreaticImpaired pancreatic
functionfunction
Frequent viral and bacterialFrequent viral and bacterial
infectionsinfections
Vitamin deficienciesVitamin deficiencies
AutoimmunityAutoimmunity
NeurotransmitterNeurotransmitter
imbalance/dysfunctionimbalance/dysfunction
Sensitivity to vaccinationsSensitivity to vaccinations
SeizuresSeizures

7474
Metabolic conditions in association with autismMetabolic conditions in association with autism
phenotypephenotype
1.1. Disorders of purine metabolismDisorders of purine metabolism
Adenylosuccinate lyase (ADSL) deficiencyAdenylosuccinate 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 ofDisorders 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
MonoaminMonoaminee ooxxsidasidasese A (MOA)A (MOA) andand GlGlyyooxxilailasese A (GLYA)A (GLYA)

7575
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

7676
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.

7777
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

7878
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

7979
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.

8080
Behavioral Issues
Common reason for presentation to
mental health services
20% with severe mental retardation have
some form of severe behavioral disorder
Problem behaviors: self harm/aggression
to others
Significantly disabling/ not responding to
other measures

8181
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.

8282
Epilepsy
Most common medical disorder in mental retardation
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 mental retardation and
epilepsy have autism
In more severe cases, stereotypies and involuntary
movements may be difficult to distinguish from
epilepsy

8383
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

8484
Autism assessment-testing
speech, language, communication
developmental
genetics
hearing
cognitive, psychoeducational
neuropsychological
psychiatric

8585
Assessment for ASDAssessment for ASD
Should include direct assessment ofShould include direct assessment of
cognitive skills/ development,cognitive skills/ development,
language, adaptive functioning, andlanguage, adaptive functioning, and
behavior whenever possible.behavior whenever possible.
Diagnosis should be based on parentDiagnosis should be based on parent
interview, direct observation (Autisminterview, direct observation (Autism
Diagnostic Observation Schedule) and,Diagnostic Observation Schedule) and,
if possible, teacher observations.if possible, teacher observations.

8686
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]

8787
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

8888
DiagnosisDiagnosis
Qualitative impairments inQualitative impairments in
–– SOCIAL INTERACTIONSOCIAL INTERACTION
–– CommunicationCommunication
–– Restricted, repetitive and stereotypedRestricted, repetitive and stereotyped
patterns of behavior, interests or activitiespatterns of behavior, interests or activities

8989
DiagnosisDiagnosis
QualifiersQualifiers
Onset in at least 1 domain before age 3Onset in at least 1 domain before age 3
Not better accounted for by other diagnosisNot better accounted for by other diagnosis

9090
DiagnosisDiagnosis
Diagnosis in young childrenDiagnosis in young children
–– Autism can be reliably diagnosed asAutism can be reliably diagnosed as
young as 2 yearsyoung as 2 years
–– More variability with children with earlyMore variability with children with early
diagnoses of PDD NOSdiagnoses of PDD NOS
–– Repetitive behaviors are less common inRepetitive behaviors are less common in
both very young children and highboth very young children and high--
functioning adolescents and adultsfunctioning adolescents and adults

9191
DSMDSM--55 Criteria:SocialCriteria:Social CommunicationCommunication
Persistent deficits in social communication andPersistent deficits in social communication and
social interaction across contexts, not accountedsocial interaction across contexts, not accounted
for by general developmental delays, manifestedfor by general developmental delays, manifested
by all of the following:by all of the following:
–– Deficits in socialDeficits in social--emotional reciprocityemotional reciprocity
–– Deficits in nonverbal communicative behaviorsDeficits in nonverbal communicative behaviors
–– Deficits in developing and maintaining relationshipsDeficits in developing and maintaining relationships
appropriate to the developmental levelappropriate to the developmental level

9292
DSMDSM--5 Criteria:5 Criteria:
Restricted/Repetitive BehaviorsRestricted/Repetitive Behaviors
Restricted, repetitive patterns of behavior,Restricted, repetitive patterns of behavior,
interests, or activities as manifested by at least 2interests, or activities as manifested by at least 2
of the following:of the following:
–– Stereotyped or repetitive speech, motor movements,Stereotyped or repetitive speech, motor movements,
or use of objectsor use of objects
–– Excessive adherence to routinesExcessive adherence to routines
–– Highly restricted, fixated interests that are abnormalHighly restricted, fixated interests that are abnormal
in intensity or focusin intensity or focus
–– HyperHyper-- or hypoor hypo--reactivity to sensory input or unusualreactivity to sensory input or unusual
sensory interestssensory interests

9393
DSMDSM--5 Criteria5 Criteria
Symptoms must be present in early childhood.Symptoms must be present in early childhood.
Symptoms together limit and impair everydaySymptoms together limit and impair everyday
functioning.functioning.

9494
Surveillance ofSurveillance of ASDsASDs
Direct observation/interactions/Direct observation/interactions/““clinical probesclinical probes””
–– Pointing and directing child toPointing and directing child to ““looklook”” (12(12––15 months)15 months)
–– Calling childCalling child’’s name (12 months)s name (12 months)
–– AskingAsking ““WhereWhere’’s mommy?s mommy?””
–– Eye contact, gaze referencing, pointingEye contact, gaze referencing, pointing——evidence ofevidence of
joint attentionjoint attention
–– Observe for unusual movements (looking at thingsObserve for unusual movements (looking at things
closely, out of corner of eye, repetitive movements,closely, out of corner of eye, repetitive movements,
sensitivities).sensitivities).

9595
Probing questions for parents:Probing questions for parents:
–– What is your childWhat is your child’’s favorite toy/type of play? (12 tos favorite toy/type of play? (12 to
18 months)18 months)
–– Does your child babble? Wave byeDoes your child babble? Wave bye--bye? Raise arms tobye? Raise arms to
be lifted? Hear your voice as well as other things inbe lifted? Hear your voice as well as other things in
the environment? (9 to 12 months)the environment? (9 to 12 months)
–– Does your child have echolalia,Does your child have echolalia, ““poppop--upup”” words,words,
exceptional labeling? (12, 15, and 24 months).exceptional labeling? (12, 15, and 24 months).

9696
““Development of social skills and language isDevelopment of social skills and language is
more delayed and characteristicallymore delayed and characteristically ‘‘out of syncout of sync’’
with motor, adaptive and cognitive functioning.with motor, adaptive and cognitive functioning.””
Johnson CP. Recognition of autism before age 2 years. Pediatr Rev. 2008;29(3):86–96.

9797
Screening ToolsScreening Tools
No validated tools for use in children under 18No validated tools for use in children under 18
monthsmonths
Level 1 screening tools for at risk or no riskLevel 1 screening tools for at risk or no risk
childrenchildren
–– Checklist for Autism in Toddlers (CHAT)Checklist for Autism in Toddlers (CHAT)
–– Modified Checklist for Autism in Toddlers (MModified Checklist for Autism in Toddlers (M--CHAT)CHAT)
–– Pervasive Developmental Disorders Screening TestPervasive Developmental Disorders Screening Test--IIII
(PDDST(PDDST--II)II)
No recommendation for screening school ageNo recommendation for screening school age
childrenchildren
–– Consider Social Communication QuestionnaireConsider Social Communication Questionnaire

9898
MM--CHATCHAT
23 yes23 yes--no questionsno questions
Measures social reciprocity, language, someMeasures social reciprocity, language, some
motor skillsmotor skills
18 months to 4 years of age18 months to 4 years of age
Detects ASD, language impairment, mentalDetects ASD, language impairment, mental
retardation.retardation.

9999
MM--CHAT and Autism ScreeningCHAT and Autism Screening
Failing score if 2 or more critical items or any 3Failing score if 2 or more critical items or any 3
items are faileditems are failed
22--page scoring guidepage scoring guide
Takes 5 minutes to complete and 5 minutes toTakes 5 minutes to complete and 5 minutes to
scorescore
Autism screen recommended by AAP AutismAutism screen recommended by AAP Autism
Expert Panel for use at 18Expert Panel for use at 18––24 month well24 month well--childchild
visit.visit.

100100
Can Autism be reliably diagnosed <36Can Autism be reliably diagnosed <36
months?months?
–– Problems measurable by 18 mo and stable throughProblems measurable by 18 mo and stable through
preschool age center around development ofpreschool age center around development of jointjoint
attention and communicationattention and communication
–– Intense social interest in facesIntense social interest in faces -- 4 mo4 mo
–– orienting to nameorienting to name -- 12 mo12 mo
–– ProtoimperativeProtoimperative pointingpointing -- 1212--14 mo14 mo
–– ProtodeclarativeProtodeclarative pointingpointing -- 1414--16 mo16 mo
–– Atypical or no language developmentAtypical or no language development
–– Joint attention is substrate of cognitionJoint attention is substrate of cognition
necessary for language developmentnecessary for language development

101101
Early IdentificationEarly Identification
Why?Why?
SelfSelf--imposed social deprivationimposed social deprivation
compromises behavioral and braincompromises behavioral and brain
developmentdevelopment
Outcome evidence supports earlyOutcome evidence supports early
interventionintervention
–– Early identificationEarly identification intense structuredintense structured
social inputsocial input More typical developmentMore typical development

102102
Autism intervention
categories
educational/ vocational approaches
communication therapies
behavioral interventions (ABA)
Picture Exchange Communication System
(PECS)
TEACCH Program
social skills training
psychotherapies -individual, family, group
biomedical/ integrative/ complementary -
medications, vitamins, diets

103103
Pharmacological Intervention
No medications can cure autism
None affects social pragmatic
understanding
Helps improve the quality of life
1. target symptoms/behaviors of
concern
2. thereby reduce social withdrawal

104104
MA Department of Public Health Bureau of Family Health and Nuttrion
EARLY INTERVENTIONEARLY INTERVENTION
–– Infants and toddlers with established conditions,Infants and toddlers with established conditions,
developmental delays, or biological/environmentaldevelopmental delays, or biological/environmental
risk for delaysrisk for delays
–– Intervention is:Intervention is:
FamilyFamily--centeredcentered
ComprehensiveComprehensive
CoordinatedCoordinated
Developmentally appropriateDevelopmentally appropriate
Provided in natural environmentsProvided in natural environments

105105
SPECIALIZED SERVICES FORSPECIALIZED SERVICES FOR
CHILDREN WITH ASDCHILDREN WITH ASD
Highly structured, individualizedHighly structured, individualized
treatment programs offered on antreatment programs offered on an
intensive basis (intensive basis (ABA,FloortimeABA,Floortime).).
Family support, information, andFamily support, information, and
involvement in treatment plan.involvement in treatment plan.

106106
Treatment and InterventionTreatment and Intervention
No single approach is best for allNo single approach is best for all
individuals or even across time for theindividuals or even across time for the
same individual with ASDsame individual with ASD

107107
Applied Behavior Analysis (ABA) TherapyApplied Behavior Analysis (ABA) Therapy
–– Most commonly studied treatmentMost commonly studied treatment
–– What is it?What is it?
Uses principles of reinforcementUses principles of reinforcement
Variety of behavioral approaches (e.g., DiscreteVariety of behavioral approaches (e.g., Discrete
trial, pivotal response training, verbal behavior,trial, pivotal response training, verbal behavior,
incidental teaching) to teach social interactionincidental teaching) to teach social interaction
skills/ communication.skills/ communication.
2525--40 hours a week40 hours a week
InIn--home versus centerhome versus center--basedbased
Prerequisites for benefit (imitation, joint attention)Prerequisites for benefit (imitation, joint attention)
and when see most benefitand when see most benefit

108108
First randomized control trial of ABAFirst randomized control trial of ABA
published in 2000 (Smith,published in 2000 (Smith, GroenGroen, &, &
Wynn)Wynn)
–– Children who received ABA made greaterChildren who received ABA made greater
gains than children in parent traininggains than children in parent training
control groupcontrol group
–– None changed diagnosisNone changed diagnosis
–– Gains not dramaticGains not dramatic
–– Children with PDD NOS and higher IQChildren with PDD NOS and higher IQ’’ss
made greater gainsmade greater gains

109109
Other studies of ABAOther studies of ABA
–– Age at start of treatment may be a factor,Age at start of treatment may be a factor,
but response to treatment is not limitedbut response to treatment is not limited
to very young preschool childrento very young preschool children
Comparing newer ABA studies toComparing newer ABA studies to
LovaasLovaas studiesstudies
–– fewer hours, therapists with less training,fewer hours, therapists with less training,
different IQdifferent IQ’’s.s.

110110
Educational InterventionsEducational Interventions
Direct social skills instruction with opportunitiesDirect social skills instruction with opportunities
to practice skills with typically developing peersto practice skills with typically developing peers
(WITH SUPPORT)(WITH SUPPORT)
Social communication skillsSocial communication skills
Play skillsPlay skills
Affect trainingAffect training
Social storiesSocial stories
Peer tutoringPeer tutoring
Should try and choose outcomes that areShould try and choose outcomes that are
MEASURABLE in order to monitor progressMEASURABLE in order to monitor progress

111111
Educational InterventionsEducational Interventions
Use of visuals to supplementUse of visuals to supplement
communication as neededcommunication as needed
Functional Behavioral AssessmentFunctional Behavioral Assessment

112112
Complementary & AlternativeComplementary & Alternative
TherapiesTherapies
CAM is defined by the National CenterCAM is defined by the National Center
for Complementary and Alternativefor Complementary and Alternative
Medicine asMedicine as ““a group of diversea group of diverse
medical and health care systems,medical and health care systems,
practices, and products that are notpractices, and products that are not
presently considered to be part ofpresently considered to be part of
conventional medicine.conventional medicine.””

113113
TherapiesTherapies
CAM use is common in children with ASDCAM use is common in children with ASD
–– In recent studies, 50In recent studies, 50--75% of children with ASD75% of children with ASD
were being treated with CAM (Wong et al, 2006,were being treated with CAM (Wong et al, 2006,
Hanson et al, 2007)Hanson et al, 2007)
–– Almost 1/3 of children referred for ASD evaluationAlmost 1/3 of children referred for ASD evaluation
were being treated with dietary therapies (Levy etwere being treated with dietary therapies (Levy et
al, 2003)al, 2003)
–– Parents may be reluctant to share informationParents may be reluctant to share information
regarding CAM use with their childregarding CAM use with their child’’s doctor (Wongs doctor (Wong
et al, 2006)et al, 2006)
Concern about physician disapprovalConcern about physician disapproval
No need for disclosureNo need for disclosure
Physician did not askPhysician did not ask
Physician not knowledgeable about CAM.Physician not knowledgeable about CAM.

114114
TherapiesTherapies
Dietary modificationsDietary modifications
Vitamins/supplementsVitamins/supplements
ChelationChelation therapytherapy
MelatoninMelatonin
Antibiotics/Antibiotics/AntifungalsAntifungals
ImmunoglobulinsImmunoglobulins
Hyperbaric oxygenHyperbaric oxygen
Auditory integrationAuditory integration
therapytherapy
Behavioral optometryBehavioral optometry
CraniosacralCraniosacral manipulationmanipulation
Music therapyMusic therapy
YogaYoga
Biological TreatmentsBiological Treatments
NonNon--BiologicalBiological
TreatmentsTreatments

115115
Gluten/Casein Free DietGluten/Casein Free Diet
BackgroundBackground
–– GlutenGluten -- protein found in wheat, rye, barleyprotein found in wheat, rye, barley
–– CaseinCasein -- protein found in dairy productsprotein found in dairy products
–– Based on hypothesis that:Based on hypothesis that:
Gluten and casein break down intoGluten and casein break down into opioidopioid--likelike
peptidespeptides
Diffuse across an abnormally permeable GI liningDiffuse across an abnormally permeable GI lining
((““leaky gut theoryleaky gut theory””))
Excess opiate activity in CNS results in symptomsExcess opiate activity in CNS results in symptoms
of autism.of autism.

116116
Evidence of effectEvidence of effect
–– KnivsbergKnivsberg et al, 2002et al, 2002
20 children, assigned to GFCF or typical diet for 1 year20 children, assigned to GFCF or typical diet for 1 year
GFCF group showed improvements in attention,GFCF group showed improvements in attention,
social/emotional factors, cognition, motor skillssocial/emotional factors, cognition, motor skills
Limitations: Small sample, lack of strict dietaryLimitations: Small sample, lack of strict dietary
control, single blindedcontrol, single blinded
–– Elder et al, 2006Elder et al, 2006
DoubleDouble--blind, placebo controlled study of 13 childrenblind, placebo controlled study of 13 children
12 week duration, crossover design12 week duration, crossover design
No differences between groups on outcome measuresNo differences between groups on outcome measures
Limitations: Small sample, no washLimitations: Small sample, no wash--out period.out period.

117117
Clinical ConsiderationsClinical Considerations
–– Feasibility of implementing dietFeasibility of implementing diet
ChildChild’’s current eating habitss current eating habits
Added time, effort and expenseAdded time, effort and expense
Plans to ensure compliance in and out of homePlans to ensure compliance in and out of home
–– Nutritional considerationsNutritional considerations
Monitor weight gainMonitor weight gain
Maintaining adequate intake of protein, calcium,Maintaining adequate intake of protein, calcium,
vitamin Dvitamin D
Consultation with nutritionistConsultation with nutritionist
–– Plan for evaluating response to interventionPlan for evaluating response to intervention

118118
Vitamins and SupplementsVitamins and Supplements
Vitamin B6 and MagnesiumVitamin B6 and Magnesium
–– Cochrane review of 3 small controlled studies,Cochrane review of 3 small controlled studies,
insufficient evidence to support useinsufficient evidence to support use
–– Generally safe, but toxicity may occur atGenerally safe, but toxicity may occur at
elevated doseselevated doses
Tolerable upper limits in children:Tolerable upper limits in children:
–– Vitamin B6 (30Vitamin B6 (30--80 mg/day)80 mg/day)
–– Magnesium (65Magnesium (65--350 mg/day)350 mg/day)
NIH Office of Dietary Supplements:NIH Office of Dietary Supplements:
http://http://ods.od.nih.govods.od.nih.gov

119119
Vitamins and SupplementsVitamins and Supplements
Omega 3 Fatty AcidsOmega 3 Fatty Acids
–– Polyunsaturated fatty acidsPolyunsaturated fatty acids
ALA from nuts, seeds; EPA and DHA from fatty fishALA from nuts, seeds; EPA and DHA from fatty fish
High concentrations of DHA in neural tissuesHigh concentrations of DHA in neural tissues
Some studies show decreased levels of omega 3 in ASDSome studies show decreased levels of omega 3 in ASD
childrenchildren
–– 1 placebo controlled trial in 13 children (1 placebo controlled trial in 13 children (AmmingerAmminger et al,et al,
2007)2007)
Hyperactivity and stereotypy scales on ABC trendedHyperactivity and stereotypy scales on ABC trended
towards significancetowards significance
1 child withdrew due to GI complaints & lack of benefit1 child withdrew due to GI complaints & lack of benefit
–– Remaining studies uncontrolled, some showing benefitRemaining studies uncontrolled, some showing benefit
–– Main side effects related to GI upsetMain side effects related to GI upset

120120
MelatoninMelatonin
Hormone produced by pineal gland that regulates sleepHormone produced by pineal gland that regulates sleep
–– Available as a nutritional supplement (not FDAAvailable as a nutritional supplement (not FDA
regulated)regulated)
Sleep problems are highly prevalent in ASD (44Sleep problems are highly prevalent in ASD (44--83%)83%)
–– Evidence of abnormal melatonin regulation in ASDEvidence of abnormal melatonin regulation in ASD
Clinical studies have shown some benefitClinical studies have shown some benefit
–– Small randomized, placeboSmall randomized, placebo--controlled trials showedcontrolled trials showed
increased sleep duration and reduced sleep latencyincreased sleep duration and reduced sleep latency
((WirojananWirojanan, 2009,, 2009, GarstangGarstang, 2006), 2006)
–– Retrospective study of 107 children showed only 3Retrospective study of 107 children showed only 3
with side effects of daytime sleepiness and enuresiswith side effects of daytime sleepiness and enuresis
(Andersen, 2008)(Andersen, 2008)
Recommendations of 1Recommendations of 1--3 mg 30 minutes prior to3 mg 30 minutes prior to
bedtimebedtime

121121
Role of School HealthRole of School Health
ProfessionalsProfessionals
Provide important information regarding functioningProvide important information regarding functioning
and behavior in school to guide treatment decisionsand behavior in school to guide treatment decisions
Assist with implementation of treatments (e.g.,Assist with implementation of treatments (e.g.,
medication administration, special diets)medication administration, special diets)
Participate in ongoing monitoring of response toParticipate in ongoing monitoring of response to
treatmentstreatments
–– Behavioral changes: Activity level, aggression,Behavioral changes: Activity level, aggression,
mood, repetitive behaviorsmood, repetitive behaviors
–– Side effects: Appetite changes, sedation, GISide effects: Appetite changes, sedation, GI
complaintscomplaints

122122
Additional therapiesAdditional therapies
Speech/ Language therapySpeech/ Language therapy
–– Should have experience working withShould have experience working with
children with ASD.children with ASD.
–– Behavioral approach (e.g., verbalBehavioral approach (e.g., verbal
behavior) often most effective.behavior) often most effective.
–– Social communicationSocial communication

123123
Additional TherapiesAdditional Therapies
Occupational therapyOccupational therapy
–– Sensory IntegrationSensory Integration –– not supported bynot supported by
research, but some anecdotal evidenceresearch, but some anecdotal evidence
–– Motor coordinationMotor coordination

124124
Pharmacological TreatmentsPharmacological Treatments
–– Over past decade, shift fromOver past decade, shift from
antipsychotic medications to the newer,antipsychotic medications to the newer,
atypical,atypical, antipsychoticsantipsychotics as well as to theas well as to the
use of the serotoninuse of the serotonin--blocking agentsblocking agents

125125
Pharmacological treatmentsPharmacological treatments
–– AtypicalAtypical antipsychoticsantipsychotics have morehave more
favorable sidefavorable side--effect profileseffect profiles
–– Target symptomsTarget symptoms
selfself--injury, severe agitation or stereotypedinjury, severe agitation or stereotyped
movements, severe behavior problemsmovements, severe behavior problems
–– Decreased risk of extra pyramidal sideDecreased risk of extra pyramidal side
effectseffects

126126
Most extensive body of work hasMost extensive body of work has
development ondevelopment on risperidonerisperidone
–– significant benefitssignificant benefits
SSRISSRI’’ss
–– May be helpful with repetitive/ obsessiveMay be helpful with repetitive/ obsessive
behaviors, difficulties dealing with changebehaviors, difficulties dealing with change
–– Not as well studiedNot as well studied
–– Some support forSome support for fluoxetinefluoxetine (reduced(reduced
levels of compulsive behaviors andlevels of compulsive behaviors and
aggression)aggression)

127127
Stimulant medicationsStimulant medications
–– Some suggestion that higher functioningSome suggestion that higher functioning
children may be more likely to respondchildren may be more likely to respond
positively.positively.

128128
Treatment:Treatment:
More Intensive ApproachesMore Intensive Approaches
Applied Behavioral AnalysisApplied Behavioral Analysis
–– OnlyOnly ““evidence basedevidence based”” intensive interventionintensive intervention
SonSon--Rise ProgramRise Program
FloorFloor--timetime
Relationship Development InterventionRelationship Development Intervention
(RDI)(RDI)
Rapid Prompting Method (RPM)Rapid Prompting Method (RPM)

129129
Treatment: TeachTreatment: Teach
Treatment and Education of Autistic and RelatedTreatment and Education of Autistic and Related
Communication Handicapped Children (TEACHH)Communication Handicapped Children (TEACHH)
Statewide system of services for individuals withStatewide system of services for individuals with
autism and their familiesautism and their families
Increase level of skill through adapting theIncrease level of skill through adapting the
environment to accommodate the characteristicsenvironment to accommodate the characteristics
of children with autismof children with autism

130130
MedicationsMedications
Target symptomsTarget symptoms
–– AnxietyAnxiety
–– AggressionAggression
–– Obsessive/compulsive featuresObsessive/compulsive features
–– ADHD featuresADHD features
–– Sleep problemsSleep problems
–– SeizuresSeizures
–– MoodMood labilitylability
–– Repetitive behaviorsRepetitive behaviors

131131
MedicationsMedications
StimulantsStimulants
SSRIsSSRIs
AtypicalAtypical antipsychoticsantipsychotics
–– RisperdalRisperdal
MelatoninMelatonin
Seizure medicationSeizure medication

132132
PrognosisPrognosis
Previous studies summarized:Previous studies summarized:
–– 1010––15% with good outcomes15% with good outcomes
–– 1515––25% with fair outcomes25% with fair outcomes
–– 1515––25% with poor outcomes25% with poor outcomes
–– 3030––50% with very poor outcomes50% with very poor outcomes
Few current longitudinal studies existFew current longitudinal studies exist
Issues of diagnosticIssues of diagnostic ““shift,shift,”” diagnostic stabilitydiagnostic stability

133133
PrognosisPrognosis
The goal is for early intense intervention andThe goal is for early intense intervention and
therapy approaches.therapy approaches.
Collaboration of a variety or professionalsCollaboration of a variety or professionals
and family is needed in order to have the bestand family is needed in order to have the best
outcome for children with autism.outcome for children with autism.
With proper education, support, andWith proper education, support, and
treatment, hopefully improvements will betreatment, hopefully improvements will be
made in various areas such asmade in various areas such as
communication and social interaction skills.communication and social interaction skills.

134134
ConclusionsConclusions
Autism is a complex neurodevelopment disorder which isAutism 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;Autism is characterized by: social deficits;
communication deficits; repetitive behaviorscommunication deficits; 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.
Macedonian authorities who create social policy mustMacedonian authorities who create social policy must
establish services and should take better social care forestablish services and should take better social care for
them.them.

135135
ConclusionsConclusions
Currently, diagnosable medical conditions,Currently, diagnosable medical conditions, cytogeneticcytogenetic
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
4% to have another child with autism.4% to have another child with autism.

136136
Prof. Vladimir Trajkovski, MD, PhD
Phone: +389-2-3148-834
Fax: +389-2-3118-143
E-mail: vladotra@fzf.ukim.edu.mk
Web blog: http://vladotra68.blogspot.com
Facebook: Prof. Dr. Vladimir Trajkovski
Skype: vladotra
“Autism is Treatable”
www.Autism-RecoveredChildren.org

Prof. Dr. Vladimir Trajkovski-predavanje autizam - Erasmus plus-Blagoevgrad

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