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Autism – a practical approach
Dr. Birgit SchlegelFeb 2010
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What this talk is all about:
This talk aims at giving an overview of a highly complex disorder and it does not profess to give enough detail and information to make anyone an Autism expert!
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MYTHS!“Autism Epidemic”Vaccination causes Autism“Refrigerator Mothers”Cow’s milk , wheat and gluten
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Facts!Autism is a POLYGENETIC
NEUROBIOLOGICAL disorderMulti organ system involvementDisorder of the ASSOCIATION cortex
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…MORE FACTS!Disorder of CONNECTIVITYPREVALENCE : 1 : 150 (USA)HERITABILITY : concordance rate 70-90% in
monozygotic twinsRECURRENCE risk : 2-8% if one affected
child higher if >1 child affected
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….and more FACTS!
Genetic HETEROGENEITY
Candidate genes -------synapse formation----------------plasticityEg. Neurexin
Neuroligin Fragile X
Contactin assoc. protein like 2 gene
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…and even more FACTS!
Larger volume brainsMIRROR NEURON SYSTEMS - pathways
activated both by performance and by observation
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Areas of brain involved in Autism
Temporal lobes - language, auditory processing + synthesis
Amygdala (deep within temp. lobes) - switchboard of social interaction
Brainstem - mailbox for sensory stimuliCerebellum - coordination of motor
movementFrontal lobes - executive function
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THE TRIAD
Deficits in SOCIAL INTERACTIONDeficits in VERBAL and NON VERBAL
COMMUNICATIONDeficits in IMAGINATIVE PLAY
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1 . POOR SOCIAL INTERACTION Little awareness of
others and their feelingsPoor ability to make
social contactIndifference or dislike of
being held or cuddled Preference for solitary
playProblems in engaging
people or in forming relationships
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2.POOR LANGUAGE AND COMMUNICATIONDelayed lang. dev. or
language regressionPoor facial expression and
gesturesRepetition of phrases and
wordsJargon, EcholaliaWords used without their
normal meaningAccent, odd intonationPoor symbolic activityDifficulties initiating and
maintaining conversations
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3. POOR PLAY , unusual BEHAVIOURMotor Stereotypes
(rocking, hand flapping, spinning)
Attachments objectsHyperactive or
withdrawnTantrumsResistance to change,
inflexibleLimited interests,
obsessionsPoor imitation
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THE THEORIES!‘AUTISM ‘ comes from AUTOS (Self)THEORY OF MIND (being able to put oneself
into some body else’s shoes)Responses to a strange world ----
FLIGHT( fear) ----
FIGHT(defense) ----
FREEZE(incapable of meaningful activity)
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THE SPECTRUM!Broad Autism SpectrumAspergersPDD. NOSClassic AutismRetts SyndromeChildhood disintegrative disorder
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The PRESENTATION!INFANCY:
decreased vocalisation and cooing
decreased attention to people
increased attention to objects
decreased response to name
decreased communicative intent
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INFANCY –DANGER SIGNALS
Poor response to being calledPoor eye contactNo intentional smilePoor visual referencingThe placid “unneedy” baby The severely fretful, restless baby with many
sensory problems
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TODDLERHOOD, PLAY AND PRE SCHOOL CHILDLang. Dev. Delay/RegressionClumsiness/’Stiffness”/fear
of heightsPersistent toe walkingDelayed toilet trainingNot waving good-byePoor eye contactDoes not settle down at play
schoolNo interactive playPoor imaginative playTemper tantrumsGood at puzzles
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Language problems in older childrenJargon, EcholaliaReticent to speakPoor verbal communicative
intent“surprise “wordsRepetition of phrasesVerbal stereotypesReceptive difficultiesAccentStilted ‘schoolmasterly’
speechDifficulties engaging in
reciprocal conversation
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PLAY and BEHAVIORNo real playRepetitive activitiesLining up, matching,
sorting, ordering, hoardingObject scrutiny/peripheral
visionInappropriate object useAttachment objectsDinosaurs, Thomas The
Tank EngineWheels, ties ,strings,
lawnmowers, vacuum cleaners
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MORE BEHAVIOURCooperates on own
terms only-’My way or no way’
Non functional routines and rituals
Resistance to change
Phobias and fearsMotor stereotypesSensory difficulties
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The DO’s and DON’Ts
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HistoryPregnancy:
high fever?other risk factors? (Alcohol, CMV, Rubella)
Maternal depressionFamily History!EpilepsyDevelopmental HistoryBehaviour History
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EXAMINATIONTuberous SclerosisNF 1Fragile XC22DSAngelman
specific medical or neurological findings
clumsiness, motor planning problems
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Common Associations with ASDIntellectual DisabilityEpilepsy ( if severe –ASD also severe)Impaired VisionImpaired HearingSpeech problemsMotor problemsGIT-GOR ,diarrhoea, constipationIMMUNE System ProblemsSENSORY INTEGRATION issues
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MORE DO’sDEVELOPMENTAL
ASSESSMENTBEHAVIOR
QUESTIONNAIRES M-CHATCARS others!
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DO NOT:
Overwhelm parents with the Autism word!Give false sense of ‘all is well’ and not mention
Autism at all! (Parental complacency)Over investigate (most yield: Genetic tests, EEG)Promise complete resolutionPaint too bleak a picture—especially after first
visit where child may APPEAR handicapped
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Basic Management Principles!
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WHO NEEDS HELP?The Child with AutismSibling/sParentsNanny and GrannyThe wider familyTeachers, other care
givers
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PARENTSDiscuss functional
approachProvide InformationAcknowledge that
symptoms can change
Refer for supportGuard against
exploitation
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ChildEmpathyRespectStructurePredictability and
RoutineVisual aids and Cues
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PRINCIPLES OF INTERVENTIONEngageDevelop motivation and
ImitationFocus on functional
communicative skillsExpand on special
interests and obsessionsReduce linguistic
complexity and overloadUse visual cues and
prompts
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MULTIDISCIPLINARY APPROACHDEVELOPMENTAL STIMULATION—OT/PT/STBEHAVIOR MODIFICATION---Behaviour EXPERT!SENSORY PROBLEMS—SI OTLEARNING PROGRAMMES-ED.PSYCHOLOGISTMed. MX---Dev. Paed/ Neurologist/PsychiatristDieticianOthers-Music Therapist/ART therapy/RDA
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Specific Intervention ProgrammesIEP—Individ. Ed. ProgammeTEACCH---Treatment and Ed.
of Autistic and related communication handicapped children
MAKATON—Augmented communication using symbols with normal grammatical speech
HYGASHI—emphasis on physical strength and coord.
PECS—Picture Exchange Communication System
RDA—Riding for the disabled
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RESOURCES / INITIATIVES Schools—Vera and Alfa Private ‘Programmes’—SNAP/Trish
Brodricks Early Learning Centre Autism SA---info/accredited
Professionals Psychologists/psychiatrists/paeds.
with special interest Parent Support/Education—
Aspergers Support Group/Muizenberg Southern Suburbs parent support initiative/Janine Jerling(Somerset West)
AUTISM DIY---Mrs. Jenny Buckle Autism Forum for professional
Networking Autism Working Group—Dep. Of
Health, Education and Social Services
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Questions?