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How has the Study of Disorders Elucidated our Understanding of Perceptual Development? A Comparison of Autistic Spectrum Disorders and William's Syndrome.

How has the Study of Disorders Elucidated our Understanding of Perceptual Development? A Comparison of Autistic Spectrum Disorders and William's Syndrome.

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An essay for the 2011 Undergraduate Awards (Ireland) Competition by Aoife Clarke. Originally submitted for TR006 at Trinity College, University of Dublin, with lecturer Professor Fiona Newell in the category of Medical Sciences
An essay for the 2011 Undergraduate Awards (Ireland) Competition by Aoife Clarke. Originally submitted for TR006 at Trinity College, University of Dublin, with lecturer Professor Fiona Newell in the category of Medical Sciences

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Published by: Undergraduate Awards on Aug 31, 2012
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Q. How has the study of disorders elucidated our understanding of perceptual development? A comparison of Autistic Spectrum Disordersand William’s Syndrome.
 The study of neurodevelopmental disorders enables the prerequisites for normalperceptual development to be disentangled. In typical populations, differentperceptual processes are so inter-correlated that it is very difficult to tell whetherthe development of one perceptual process is exerting a causal effect on thedevelopment of another perceptual process. However, in populations thatdisplay a particular developmental deficit or delay, it is possible to delineatesequential relationships between different perceptual processes at differentlevels of processing. Furthermore, the study of neurodevelopmental disordersallows for the specification of neurobiological substrates behind perceptualprocessing. Thus, such studies can greatly elucidate our understanding of perceptual development. The following essay will discuss the visual perceptual trajectories
of twoneurodevelopmental disorders, autistic spectrum disorders (ASD) and William’sSyndrome (WS), from the initial early stages of perceptual processing, includingattention to stimuli and early processing in the Lateral Geniculate Nucleus, whichoccurs in parallel to subcortical visual and emotional processing in early infancy,to how both of these early stages of perceptual processing impact higher levelvisual processing in the dorsal and ventral streams, and finally to how all theaforementioned earlier levels of perceptual processing culminate in the deficitsin social perception observed in both disorders. Mechanisms through which thetwo disorders diverge from each other, as well as causal processes behind someof the observed similarities in perceptual processing will be discussed. Theimplications of research on these disorders for our understanding of normalperceptual development will be underscored at each level of perceptualprocessing, concluding with the implications for our understanding of thesequential relationships between different domains of perceptual processing.Finally, a number of methodological and conceptual limitations which reduce thevalue of the study of disorders in elucidating our understanding of normalperceptual development will be discussed, and the importance of using the studyof disorders in conjunction with both experimental evidence on typicalpopulations and animal models of perception will be stressed.Autism is characterized by severe social withdrawal; Williams Syndrome, on theother hand, is characterized by extreme hypersociability (Tager-Flusberg andSullivan, 2000). The two disorders also show a dissociation between processingof spatial information and processing of faces, with persons with AD showingimpaired processing of faces but intact spatial processing, and persons with WSdisplaying the opposite pattern (e.g. Bellugi et al., 2000) (although the picture isnot quite this simplistic, as will be discussed later). Yet despite these differences,
While some research has been conducted on the other senses in these disorders, ahuge bulk of the research has focused on visual perception. Furthermore, visualperception is of most relevance to social perception (e.g. for processing facial affect etc.),therefore allowing any causal influences of earlier levels of perceptual processing to beidentified.
there is some overlap in impairments in social perception, with both groupsshowing an impaired ability to process facial affect in others, and to modulatetheir behaviour in relation to social setting (e.g. Bellugi et al.,1999). Thus,examining both disorders in conjunction in order to determine the causalprocesses behind both the opposing and overlapping features can betterfacilitate our understanding of normal perceptual development.Any abnormalities in attention or orienting to stimuli, at a conscious orunconscious level, will exert cascading effects on all later stages of perceptualprocessing. Some data indicate attentional abnormalities in both WS and ADwhich may account for atypical later-level perceptual processing. In autisticpopulations, abnormalities in the cerebellum region, in particular vermal lobulesVI and VII, have been related to impaired attentional and orienting skills(Courchesne, 2004; Stanfield et al., 2008; McAlonan et al., 2002). Furthermore,behavioural measures of attentional abnormalities indicate a deficit insensorimotor gating abilities (as assessed by prepulse inhibition)
, in tests of both automatic attention (Perry et al., 2007) and voluntary attention (McAlonanet al., 2002), despite no group differences in general startle response. Thisfinding has been replicated with relative consistency, although some equivocalresults have been reported (e.g. Ornitz et al., 1993). Thus, autistic persons areimpaired in their ability to screen out irrelevant stimuli, and therefore toappropriately attend to and process relevant stimuli. This may have implicationsfor later preferences to process perceptual information at a local level, althoughthis needs empirical testing. While sensorimotor gating deficits have not beenreported in WS, with these patients showing relatively preserved functioning of the cerebellum (Jones et al., 2001), opposing attentional abnormalities existbetween the two groups which may play a role in both the similarities in someareas of social perception and differences in face processing abilities. The twogroups display opposing attentional reactions to faces – persons with WS displayan abnormally large N200 amplitude (an index of attention to faces) compared totypically developing controls; in contrast persons with an ASD display anabnormally small N200 amplitude (Mills et al., 2001). As will be discussed later,such a difference in the attentional resources devoted to face processing mayhave implications for group differences in later-level face perception.Furthermore, both groups are characterized by deficiencies in establishing jointattention. Specifically, autism appears to be characterized by deficiencies ininitiating joint attention with a social partner, with the severity of this impairmentpredicting the intensity of social symptoms (Mundy, 2003); this has been relatedto problems integrating the anterior and posterior attention systems in infancy
(Mundy et al., 2000). Behavioural evidence of difficulties establishing joint
Prepulse inhibition involves determining the extent to which a weak auditory prepulseattenuates the subsequent eye-blink response to a loud, startling noise (Braff and Geyer,1990).
The posterior attention is a relatively involuntary attention system which subservesorientation towards biologically meaningful stimuli, and is supported by the parietal andsuperior temporal cortices; the anterior attention system is a later developing volitionalsystem, and involves a neural network which includes the prefrontal association cortex,the orbital frontal cortex and the anterior cingulate (Posner and Rothbart, 2007).
attention in WS appears more closely related to deficiencies in responding to joint attention as a result in their intense interest in others, which makes itdifficult to establish a common point of reference with them, and thus tofacilitate social learning (Doyle et al., 2004).Abnormalities in attentional functioning will logically have implications forthe next level of perceptual processing. Evidence tentatively suggests someabnormalities in the processing of different types of visual information in thelateral geniculate nucleus in persons with an ASD. Specifically, magnocellularlayers of the LGN are more sensitive to information at a low spatial frequency;parvocellular layers are more sensitive to information at a high spatialfrequency
(Livingston and Hubel, 1988). Behavioural evidence from autisticpopulations indicates a preference for information at a High Spatial Frequency(HSF), unlike normal controls who show the opposite pattern (Mottron andBelleville, 1993) – they perform better then typically developing controls on tasksrequiring feature level processing, such as the Embedded Figures Task (Joliffeand Baron-Cohen, 1996; Frith, 1989), recognizing inverted and composite faces(Hobson, Ousten and Lee, 1988; Behrmann et al., 2006;Teunisse and de Gelder,2003) and on visual search for local targets (Plaisted, O’Riordan and Baron-Cohen, 1998). Moreover, individuals with an ASD perform poorer when the taskrequires a global level of perceptual processing (Mottron and Belleville, 1993). This HSF bias at this stage of perceptual processing is likely to have implicationsfor higher-level face processing, as race recognition tends to be driven by LSFinformation. Indeed, studies have found between group differences in facerecognition tasks to be mediated by spatial frequency information, with personswith as ASD performing better for HSF then LSF faces, and normal controlsdisplaying the opposite pattern (Derulle et al., 2004). Furthermore, compared totypical adolescents, adolescents with an ASD showed a smaller N170 amplitude,an attentional response to faces driven by the LSF and not HSF components(Klaiman et al., 2004). However, further evidence is needed to delineate theprecise relations between parvocellular processing in the LGN and a localprocessing bias in AD, as well as any possible links between early sensorimotorgating deficits and preference for HSF information. Patients with WS do notdisplay this local processing bias at a perceptual level - when visuoconstructiveelements of the task are controlled for, persons with WS display similarperformances to typically developing and mental age matched controls (Farran, Jarrold and Gathercole, 2003; Rondan et al., 2008; Panni, Mervis and Robinson,1999).Early attentional atypicalities in how much attention is devoted to socialstimuli also impacts perceptual processing through subcortical structures.Furthermore, it appears that the functioning of these subcortical structures, inparticular the amygdala, also influences the degree of initial involuntaryattention devoted to a stimulus. In turn, amygdala activation, through itsconnections to cortical areas involved in social perception and perception of faces, influences the efficiency of processing in these areas (Schultz, 2005). To
High Spatial Frequency information refers to sharp changes in brightness, such as theedge of an object; Low Spatial Frequency captures information about the spatialconfiguration of the features (Mottron and Belleville, 1993).

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