Summary

Whatgoeswronginthemindinthebrainfrombeforebirthtocausedevelopmentaldisorders?I havefocusedparticularlyonautismanddyslexia,andaimtodiscovertheunderlyingcognitivecauses ofthesedisordersandtolinkthemtobehaviourpatternsaswellastobrainsystems.Iwouldliketo makethisresearchrelevanttotheeducationofpeoplewithdevelopmentaldisordersandtoimprove theirqualityoflife. Concerningautism,myworkhasexploredmentalisingandcentralcoherencetoexplainthesocial andnonsocialfeaturesofautism.Concerningdyslexia,myworkhasexploredaccessto phonologicalandorthographicrepresentationstoexplainthedelayinreadingandspelling development. In2012wroteareviewpaperofautismresearchfromapersonalperspective:Whyweneedcognitive explanationsofautism.Itcanbedownloadedfromfilearchive.

Why study autism and dyslexia?

Dyslexia and autism are disorders with a genetic cause and a basis in the brain. To understand them, it is necessary to consider many factors, those that are internal to the person and have a biological basis, and those that are external, and have a basis in the social and cultural environment. The challenge is to explain why sometimes learning of a particular skill can be so difficult, while at the same time, learning of other and just as complex skills can be easy. One answer that such a pattern suggests is that there are start-up kits in the brain and in the mind that make learning almost effortlessly easy, and that sometimes these start-up kits are faulty or missing. Inautismmyworkhasexploredafailureinintuitivementalizingandhowcompensatorylearning aboutmentalstatesproceedsslowlyandinaneffortfulfashion.Thisworkindicatesthatadultswith highfunctioningautismwhocanunderstandmentalstatesandcanuseatheoryofmindtoexplain otherpeoplesbehaviour,stillbearsignsofthestruggletolearntheseskillswhichcomeeffortlessly tonormallydevelopingindividuals.Theirintuitivementalisingabilityremainspoor.Thisisrevealedin reducedactivationinthebrainsmentalisingnetwork. Concerningdyslexia,myworkhasexploreddifficultiesinastartupkitthatleadstorapidspeech processing.Hereitcanbeshownthatcompensatorylearningleadstoperfectlyadequatespeech processing,andtoadequateprocessingofwrittenlanguage.However,evenwellcompensatedadults showthattheskilltheyacquiredisfragileandlackstheintuitiveunderpinningofphonology.In particular,itseemsthatdyslexicsnevergaintheimmediateaccesstothemindsstoreofword soundsandwordimagesthatrepresenttheirletterbyletterpattern(orthography).Brainimaging showsthatwellcompensatedadultshavereducedactivationinareasofthebraincriticallyinvolved withrapidaccesstophonologicalandorthographicformsofwords.

Examples of work on autism

Awareness of feelings and empathy
Thedefinitionanddiagnosisofautisticdisordersatpresenthasledtoaveryheterogeneous population.WetestedthewidelyheldbeliefthatAspergerSyndromemaypredisposetoantisocial andcallousactsofbehaviourandshowedthatthisisnotthecase(Rogersetal.2007).Ourresults indicatethatantisocialandcallousbehaviourwasunrelatedtoseverityofautism,andunrelatedto coreautisticcognitivedeficits,specificallyin'mindreading'orexecutivefunction.Insteadthecognitive profileofboyswithcooccurringautisticdisorderandpsychopathictendenciesresembledthatof boyswhohavepsychopathictendenciesalone.Wethereforeproposedthatcallousandpsychopathic acts,whichareregrettablyobservedinasmallnumberofindividualswithASD,reflectanadditional impairmentofempathicresponsivenesswhichisnotpartandparcelofautismitself.Thisfindinghas implicationsforforensiccases. In an adult sample we found a wide range of self-reported empathic concern, from very low to high, which correlated with self-reported awareness of own emotional states, indicating a link between understanding ones own and others emotions. In previous studies we found that a high proportion of the adults with autism spectrum disorder we tested showed low awareness of their own feelings and bodily sensations, called alexithymia (Hill et al. 2004). Work on alexithymia is being continued by ElisabethHill. WeinvestigatedtheneurophysiologicalunderpinningsofalexithymiainanfMRIstudy(Silanietal.in press).Theresultsshowedthatwhenmonitoringinnerfeelingsevokedbypicturesascomparedto judgingthecolourcontentofthepictures,thebrainsmentalisingsystem(Castellietal.2002)was activated.ThisactivationwasreducedinindividualswithASD.Quiteindependently,thedegreeof alexithymiaandlackofempathycorrelatednegativelywithdegreeofactivationintheanteriorinsula (AI).Thisisaregionofthebrainthathasbeenpreviouslyfoundtobeinvolvedintheprocessingof internalarousalandbodilystates.OurresultsconfirmthattheAImayservetheawarenessofown feelingstates,andmayalsounderliethecapacitytoempathize,thatistosharethefeelingsofothers whoare,forexample,inpainorexperiencingdisgust(Singeretal.,2004).FurtherfMRIstudieson empathyinautismarecontinuedbyTaniaSinger.

Lack of top-down modulation

Itiswidelybelievedthatindividualswithautisticspectrumconditionsseetheworlddifferently.Stimuli appeartobesalientthatarenotverysalienttootherpeople,andviceversa.Thelackofsalienceof socialstimuliisparticularlynoticeable.Wehavepursuedthehypothesisthatthesestimuliare normallyenhanced.Thishypothesisfitsintoawidertheoryoflackoftopdowncontrol.Sucha highlevelfailurewouldcausealackoftheenhancementofstimulithatarerelevanttosocial communication.Likewiseitwouldcausealackofsuppressionofstimulithatarenotcurrently relevant.Thus,lackoftopdownmodulationcanexplainperceptualoverload. Asanexample,oneofourrecentstudies,ledbyGeoffBird,attemptedtofindouttowhatextent selectiveattentiontosocialandnonsocialstimulimodulatesbrainactivityinautism.Normally, modulationoccurssuchthatbrainareasknowntobeactiveduringfaceprocessingandobject processingshowenhancedactivitywhenattentionisdirectedtoalocationwherethesestimuliare

goingtoappear.Thismodulationwasalmostabsentinautisticadultswhenfaceswerecompared withhouses(Birdetal.,2006).

Text comprehension
Anadditionalstudyontextcomprehension(SaldanaandFrith,2006)yieldedresultsthatare consistentwiththisconclusion.Wefoundthat,surprisingly,autisticreaderswithcomprehension problemswereprimedbyimplicitinferenceswhilereadingjustlikenormalreaders.Thustheir comprehensionproblemscannotbeattributedtoaninabilitytomakeimplicitinferencesoraninability todrawonrelevantworldknowledge.Insteadtheirpoorcomprehensionmustbeduetoproblemsat thediscourseleveloftextprocessing.Thishaseducationalimplicationsasitquestionsthe widelyheldbeliefthatpoorcomprehensioniscausedbylackoflowlevelinferences.Instead,it appearsthatthepoorcomprehendersfailtomakeuseoftheirperfectlyadequateinferences.This workandworkonhyperlexiaisbeingcontinuedbyDavidSaldanaattheUniversityofSeville.

Imitation
Aproject,ledbyAntoniaHamilton,investigatedpossibleimpairmentsintheperceptionactionmirror system,whichisatthecentreofoneofthecurrenttheoreticaldebatesaboutbasicmechanismsof thesocialbrain.Shefoundnoevidenceforanimpairmentintheimitationofgoaldirectedactions, whichwouldhavebeenpredictedfromthemirrorneuronhypothesisofautism(Hamiltonetal.2007).

Signalling that a communication is forthcoming

Inoneofourneuroimagingstudieswithnormaladults(Kampeetal,2003)weattemptedtodelineate brainregionsthatsupporttheinitiationofcommunicationbymakingeyecontactorbycalling someonebyname(seeright).IncreasedactivityinMPFCandtemporalpoleswasfoundina conjunctionanalysisforbothmodalities.Alackoforientationtodirectgazeandtohearingone'sown namecalledisoneoftheearliestsignsofautism(Osterlingetal2002).Henceunderstandingthe circuitryinvolvedinthisprocessshouldaidourunderstandingofpossibleneurologicaldysfunctionin autism. Thisstudyalsoresultedinaserendipitousfinding:Theeffectofeyegazeismodifiedbyfacial attractiveness.Thus,brainregionsassociatedwithrewardexpectationareactivatedonlyinthe conditionwhereanattractivepersonisgazingatyou(Kampeetal2001).

Islets of social abilities

InacollaborationwithLarryHirschfeldwefoundanimportantisletofsocialabilityinchildrenwith autism(Hirschfeldetal.2007).Whileunderstandingothersintermsoftheirmentalstateswas impairedinthesechildren,understandingothersintermsoftheirgroupmembershipwasnot.We usedthePRAM,whichpresentspicturesandvignettesofmalesandfemales,brownandwhite,to assesssocialstereotypesinchildren.Surprisingly,giventheirlackofinterestinsocialinformation andlimitedopportunitiesforsociallearning,autisticchildrenshowedgoodknowledgeofgenderand racialstereotypes.

The neuro-physiological basis of mentalising

Wehaveusedavarietyoftypesofstimulitoexaminebrainactivationassociatedwithmentalisingin healthyvolunteers,includingshortstories(Fletcheretal1995Vogeleyetal2001),cartoons (Gallagheretal2000),animatedshapes(Castellietal2000).Ametaanalysisofmentalisingstudies revealedremarkableconvergence(Frith&Frith,2003)inthreekeyregionsoftheoryof mindassociatedactivity:a)medialprefrontalcortex(MPFC),b)temporalpolesandc)superior temporalsulcus(STS). InastructuralMRIstudyofhighfunctioningindividualswithautisticdisorder,wholebrainvoxel morphometry(VBM)revealedabnormalitiesingreymattervolumeinanumberofcorticaland subcorticalregions,includingMPFC,temporalpoles,andcerebellarregions(Abelletal1999).The coincidenceoftwooftheseregionswithtwocomponentsofthementalisingsystemisstriking.These arepreliminaryresults,asthistechniqueisstillundergoingdevelopment.However,unlikeothertypes ofstructuralanalysis,VBMisentirelyobjectiveandnotconfoundedbybrainsize.Weplantoapply thetechniqueinfutureimagingstudies.

Tasks to probe intuitive mentalising in high-functioning adults

Surprisingly,despitethevastamountofresearchpublishedontheoryofmind(numberingmorethan

1,500paperstodate),mostofitconcernsyoungchildren,anditremainsunclearwhetherstable individualdifferencesinsocialinsightcanbemeasuredinordinaryadults.Wehavebeenworkingon developingnewtaskstoprobementalisingabilitiesinadults.Someexamplesare: Silentanimations. Wedesignedasetofanimationsfeaturingtwotriangles,whichconveydifferenttypesof action/interactionpurelythroughtheirkineticpatterns.Youcandownloadsomeexample moviesbelow.Thefilesareapprox4MB,andtheformatisaviwithCinepakcompression,so theyshouldbevisibleinWindowsMediaPlayerorQuicktime.

Coaxing Dancing Drifting Ifyouarearesearcherwhowouldliketousetheseanimations,pleasecontactSarah White.

Cognitive style in autism: Weak central coherence

Weproposedthatautismischaracterisedby'weakcentralcoherence'(reviewbyHapp&Frith, 2006).Toestablishwhetherthiscognitivestyleisaprimaryfeatureofautismweassessedcentral coherenceinthefirstdegreerelativesofchildrenwithautism,dyslexiaandnormaldevelopment (Briskmanetal2001Happetal2001).Halfofagroupoffathersofchildrenwithautismshowed consistentdetailfocus,whichistypicalofweakcentralcoherence.Areviewonvisualperceptual characteristicsinautismsummarisesthecurrentdebateonstrengthsandweaknessesinthe cognitiveprofileofautism(Dakin&Frith,2005).SarahWhiteiscurrentlyresearchingweakcentral coherenceattheICNandFrancescaHappandherteamattheInstituteofPsychiatry. Thetheoryofweakcentralcoherenceattemptstoaccountfortheamazingtalentsthatcanoccurin peoplewithautism.AnexampleofanartistillustratingadetailfocussedprocessingstyleisGilles Trehin,whocreatesimaginaryvistasoftheeverexpandingcityofUrville.

Examples of work on dyslexia

Acomparisonofcurrenttheoriesofdyslexia Ourstudiesallowedustoconcludethatsensorimotordysfunctionshaveonlyalimitedprevalencein dyslexia(aboutonethirdforeachofauditory,visualandmotordeficits)andarenotuniversal(White

etal.,2006,Ramusetal.,2003).Thus,lowlevelsensorimotordeficitscannotexplainthe phonologicalandliteracydeficitsindyslexia. Inonestudywherereadingwascomparedbetweenchildrenwithautismandchildrenwithdyslexia,a doubledissociationwasfoundbetweenphonologicalandsensorimotorabilities(Whiteetal.,2006). Studiesonreading,phonologyanddyslexiaarecontinuedbyFranckRamus.

Development of tests to assess phonological impairment

Incollaborationwitheducationalpsychologists,wedevelopedastandardisedtestofphonology (Frederickson,Frith&Reason,1997)whichisnowwidelyused.Ourexperimentalstudiesshowed thatthetestsinthisbatteryarepowerfulindicatorsofdyslexia,withphonologicalabilitybeinga strongpredictorofliteracyskill.Wehavealsodevelopedphonologicaltestsforadultdyslexics.

Longitudinal study of children at familial risk for dyslexia

IncollaborationwithMaggieSnowlingatYorkUniversitywecarriedoutastudythathasyielded newinformationaboutthecourseofdyslexiaoverthecrucialperiodfrompreschooltoschoolage (Snowling,Frith&Gallagher,2000Snowling,Gallagher&Frith,2003).60%ofthe56childrenat familialriskhadsignificantliteracyimpairmentsatage8.

Cross-cultural studies of skilled reading and dyslexia

Thisproject,whichUtaFrithcoordinatedwithcollaboratorsEraldoPaulesu(Milan)andJeanFrancois Dmonet(Toulouse),waspartiallyfundedbytheEuropeanBiomedprogramme.

Inthefirststudy,normalskilledItalianandEnglishreaders(usingrespectivelyashallowanddeep

orthography)werecomparedduringwordreadingorsimpleexposuretoprint(Paulesuetal1999). PETscanresultsrevealedan extensivereadingsysteminthelefthemispherethatwascommontobothgroups.However,the differentcomponentsofthissystemwereweighteddifferently.Italianreadersshowedcomparatively strongeractivationoftheplanumtemporale,whichhasbeenlinkedtographemephonemedecoding. Conversely,readersofEnglishreliedmorestronglyontheinferiorposteriortemporalgyrus(BA37),a regionlinkedtotheorthographiclexicon. Themainaimoftheprojectwastoinvestigatetheneurophysiologicalbasisofdyslexiainspeakersof differentlanguages.Wedesignedmatchedphonologicalandreadingtasksindifferentlanguagesand establishedthatonthesemeasuresastrikingdeficitisfoundwhendyslexicsinallthreelanguages werecomparedwithnormalcontrols.Theresultsrevealedacommonpatternofreducedactivation, whichmayrepresentaneuralsignaturefordyslexia(Paulesuetal2001).Thisworkisbeing continuedbyEraldoPaulesu.
Subpages (1): Experimental Stimuli

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