Autism in 2011 Current Advancements & Future Directions Raphael Bernier, Ph.D. Beau Reilly, Ph.D. University of Washington Autism Center January 20 th 2011
Dec 22, 2015
Autism in 2011Current
Advancements & Future Directions
Raphael Bernier, Ph.D.Beau Reilly, Ph.D.
University of Washington Autism CenterJanuary 20th 2011
What We Know About Autism
Autism is a neurobiological disorder.
Autism is characterized by impairments in social communication and repetitive/restricted interests & behaviors.
Affects boys 3-4 more times than girls.
Autism is found in all social classes and in all racial/ethnic groups.
Autism might be better termed AUTISMS, not AUTISM.
There are no genetic or biological tests to diagnose autism.
Behaviorally based interventions are effective at improving outcomes.
Autism has a strong genetic component.
EtiologyGenetic collaborations
Genotype leading the phenotype
Longitudinal environmental investigations
Epigenetics
Etiology: Genetics
We know the genetic cause in ~20% of individuals diagnosed with ASD
Result of known genetic disorder (e.g., Fragile X) or chromosomal abnormality (each only accounts for no more than ~1% of cases).
Two different theories: common variant vs rare variant models
These two different theories are not mutually exclusive
Simons Simplex Collection (SSC) is a core project and resource of the Simons Foundation Autism Research Initiative (SFARI).
Using identified “genomic hotspots,” we search for Copy Number Variations at specific locations in the genome.
We then explore in depth the outcome of that CNV on behavior.
One of the most common single genetic events is a deletion/duplication of 16p11.2 (~1-2%)
Simons Variation in Individuals Project
(S-VIP)
Etiology: Genetics
Copy Number Variations
Genomic Hotspots
Chromosomes
Etiology: Environment
Identified Environmental Risk Factors:Birth complicationsPaternal and Maternal ageExternal exposure of developing brain to:
LeadMethyl Alcohol
Exposures in Early PregnancyThalidomideMisoprostol (Anti-Inflammatory Medication)Maternal Rubella InfectionChlorpyrifos (Insectiside)
Childhood Autism Risk from Genetics & the Environment (CHARGE) Study was launched in 2003 as a study of 1,000 to 2,000 children with differing patterns of development.
Proximity to freeways and likelihood of Autism
Etiology: EpigeneticsThe study of factors that change the way genes express
themselves without changing the DNA itself.
Valproate during pregnancy
Maternal duplications on chromosome 15q11-13
Valproate taken during pregnancy
Inhibits histone deacetylase
Increased expression of multiple genes
Altered activations in Hippocampus
Greater risk for child with ASD
EtiologyGenetic collaborations
Genotype leading the phenotype
Longitudinal environmental investigations
Epigenetics
NeuroscienceAutism is a neurodevelopmental disorder (based in the brain) marked by social communication impairments.
Specific regions of the brain are structurally different or functioning differently from children with typical development
Social Brain Circuitry Implicated in ASD
Medial Prefrontal Cortex(Dawson et al, 1998)Medial Prefrontal Cortex(Dawson et al, 1998)
Superior Temporal Sulcus (Pelphrey &Carter, 2008)
Superior Temporal Sulcus (Pelphrey &Carter, 2008)
Mirror Neuron System(Dapretto et al, 2006)Mirror Neuron System(Dapretto et al, 2006)
Anterior Cingulate (Mundy, 2003)Anterior Cingulate (Mundy, 2003)
Amygdala(Baron-Cohen et al, 2000)Amygdala(Baron-Cohen et al, 2000)
Cerebellum(Courchesne, 1997Cerebellum(Courchesne, 1997
Hippocampus(Bauman & Kemper, 2005)Hippocampus(Bauman & Kemper, 2005)
Fusiform Gyrus(Schultz et al, 2000)Fusiform Gyrus(Schultz et al, 2000)
NeuroscienceKaiser et al. 2010 – Yale
Compared fMRI brain responses to biological motion using scrambled and coherent point light motion
Children with ASD
Unaffected siblings
Typically developing children
3 Kinds of brain activity
State
Trait
Compensatory
Coherent
Scrambled
Video source http://www.psy.vanderbilt.edu/faculty/blake/BM/BioMot.html
Mirror Neuron System
Mirror neurons activate in response to the execution AND observation of actions.
Proposed to subserve action understanding, imitation, empathy, theory of mind, understanding of metaphor, even evolution of language.
Research suggests this system is impaired in autism.
(from Ramachandran & Oberman, 2006)
DiagnosisAutism diagnosed by presence or absence of behaviors in 3 domains:
Social
Communication
Restricted/Repetitive Interests & Behaviors
Checklist of symptoms by experienced clinician
Diagnostic Criteria are changing
DiagnosisThree domains will now become two:
Social & Communicati
on Deficits
Fixated Interests & Repetitive Behaviors
Social Interaction
Communication
Stereotyped Interests
Autistic Disorder Autism Spectrum Disorder
1 2 3 4 5 6 7 8 9 10 110
20
40
60
80
100
120
Asperger'sPDD-NOSAutism
Site
Per
cent
age
Evidence for Change
Age (years)
detect - diagnose
intervene
0 1 2 3
deve
lopm
ent
(Adapted Schellenberg, 2008)
Early Detection
early detection
early intervention
better outcome?
Age (Years)
intervene
0 1 2 3
deve
lopm
ent
detect - diagnose
(Adapted Schellenberg, 2008)
Early Detection
Early DetectionUCSD
Eyler, Courchesne, & Pierce
Monitored brain activity of sleeping children with ASD and typically developing controls during fMRI.
Read stories inside machine while sleeping
Expect more use of this technology in 2011.
Interventions for Autism Spectrum Disorders
PSYCHO-EDUCATIONALStandardART THERAPYMUSIC THERAPYPLAY THERAPYOCCUPATIONAL THERAPYSPEECH THERAPYPROMPT SPEECH THERAPYPHYSICAL THERAPYBehavioral InterventionsEARLY START DENVER MODELPIVOTAL RESPONSE TRAININGDISCRETE TRIAL TRAININGSOCIAL STORIESSOCIAL SKILLS TRAININGSOCIAL GROUPSINTEGRATED PLAY THERAPYEducational and Integrated ServicesTEACCHDAILY LIFE THERAPYTechnology basedVIDEO MODELINGAlternative and Augmentative CommunicationVISUAL SCHEDULESPICTURE EXCHANGE COMMUNICATION SYSTEM (PECS)
COMPLEMENTARYAnimal basedCANINE COMPANIONDOLPHIN THERAPYHIPPO THERAPYTHERAPEUTIC HORSEBACK RIDINGSpirituality basedPRAYERENERGY HEALINGDiets and SupplementsDIETARY INTERVENTION (E.G. GLUTEN-FREE, CASEIN-FREE DIET (GFCF DIET); YEAST FREE; KETOGENIC)HOMEOPATHYIMMUNOTHERAPYVITAMIN THERAPYSECRETINMELATONINMedical ProceduresCHELATIONHYPERBARIC OXYGEN THERAPYELECTROCONVULSIVE THERAPYRelationship-based InterventionsFLOORTIMESON-RISE TREATMENTGENTLE TEACHINGHOLDING THERAPYRELATIONSHIP DEVELOPMENT INTERVENTIONPEER MENTORINGIntegrated InterventionsLINWOOD METHODSCERTS MODEL
COMPLEMENTARY ContinuedPhysiological InterventionsCHIROPRACTICCRANIO-SACRAL THERAPYACUPUNCTURE AND ACUPRESSUREYOGATHERAPEUTIC MASSAGEPATTERNING THERAPIESMILLER METHODAUDITORY INTEGRATION THERAPYRHYTHMIC ENTRAINMENT INTERVENTIONSAMONASSENSORY INTEGRATION THERAPYTOMATIS METHODVISION THERAPYIRLEN LENS SYSTEMBIOFEEDBACK AND NEUROFEEDBACKAQUATIC THERAPYTechnology basedASSISTIVE TECHNOLOGYTEACHTOWNFAST FORWORDONLINE COMMUNITIESAlternative and Augmentative CommunicationFACILITATED COMMUNICATIONRAPID PROMPTING
PSYCHO-PHARMACOLOGICALPHARMACOLOGICAL INTERVENTIONS: Including: Anti-convulsants; Anti-depressants; Anti-fungals; Anti-hypertensives; Anti-psychotics; Anxiolytics; Mood stabilizers; Sedatives; Stimulants; among others.
InterventionDawson et al. 2010: The Early Start Denver Model
First randomized, controlled trial of intervention for toddlers with autism
Developmental psychology & applied behavior analysis
Play-basedRelationship focused
Significant improvements
IQ Adaptive BehaviorAutism Severity
Intervention in 2011
Parent focused intervention
Intervention for at risk siblings (prevention)
Examination/evaluation of CAM
Use of technology in intervention
Further examination into cultural variables and influences on the factors of ASD
Diagnosis
Acceptance
Treatment
For more information about ongoing
studies:Visit the UWAC website:
http://depts.washington.edu/uwautism/
Email Kara Haney:
Or call toll-free:
1-800-994-9701