Rewards and Challenges of Cognitive Neuroscience Studies of Persons With Intellectual and Developmental Disabilities

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  • Editorial

    Rewards and Challenges of Cognitive NeuroscienceStudies of Persons With Intellectual andDevelopmental DisabilitiesDOI: 10.1352/1944-7558-115.2.79

    It is with great pleasure that I write an editorialfor this special issue of the American Journal onIntellectual and Developmental Disabilities (AJIDD)on Cognitive Neuroscience Studies of PersonsWith Intellectual and Developmental Disabilities,just as it was to accept Len Abbedutos invitation tojoin the journal as an associate editor. His charge tome, as part of that invitation, was to increase therepresentation in the Journal of first class cognitiveneuroscience studies of children and adults withintellectual and developmental disabilities. I ac-cepted both invitations enthusiastically for tworeasons. One was that as a developmental cognitiveneuroscientist studying children with neurodevel-opmental disorders, I know firsthand how fewreally appropriate journals exist for this ratheryoung and emerging field of clinical and transla-tional research. The other reason was that it wasobvious to me how appropriate it is that AJIDD,with its long history of communicating the cuttingedge of research and practice about individualswith intellectual impairments and cognitive dis-ability, should become a leader in this discipline. Ihope that, as Abbeduto stated in a recent editorial,the appearance of this special issue does indeedmark the beginning of a whole new era forAJIDD (Editorial, 2010, p. 2).

    To explain the motivation for this specialissue, I think it is worth reprising some of themain points made in our Call for Papers (2008).There we made the following statements.

    The now well-established field of cognitive neuroscience hasmade significant progress in elucidating the neural substratesand cognitive processing underpinnings of a wide range ofcognitive functions. However, its focus has been predomi-nantly on typical adult function; much less attention has beengiven to typical and atypical development. (p. 322)

    We also stated that

    cognitive neuroscientific methods hold considerable promisefor significantly advancing explanations for the basis for many

    conditions that produce intellectual and developmentaldisabilities. Also, because of their neurobiological andmechanistic strengths, these methods are likely to lead torapid progress towards a range of interventions. (p. 322)

    However, the application of cognitive neuro-science methods to the study of atypicallydeveloping individuals is not one of simpletranslation of established techniques to a newstudy population. In general, in cognitive neuro-science studies of typical adults and, morerecently, children, researchers tend to focus onidentifying the mental representation and algo-rithmic processing and/or neural underpinningsof a particular cognitive function or domain.Although these are also crucial goals in cognitiveneuroscience studies of atypical development,investigators generally aim to go further bygenerating causal mechanistic explanations forparticular domains of impairment, and they alsotry to account for the etiology and developmentalprogression of the observed disorder. Frequently,this is done because a longer term goal is todevelop therapeutic interventions.

    These goals make the task more difficultbecause one must interpret atypical development(whether in children or adults) entirely differentlyfrom typical development. This is especially truewhen attempting to make mappings of impairedcognitive functions and their underlying substratein the atypically developing brain. This is notonly because they change over the course ofdevelopment, as in the typical case, but alsobecause, in the atypical brain, the mappings arelikely to be different from typical ones and changein atypical ways. These methodological concernshave been discussed in detail, most particularly byKarmiloff-Smith and her colleagues (Johnson,Halit, Grice, & Karmiloff-Smith, 2002; Karmil-off-Smith, 1998; Scerif & Karmiloff-Smith, 2005)In brief, the issue can be understood as follows.

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  • All other things being equal, most typicallydeveloping people experience a somewhat similarneurodevelopmental environment throughouttheir lives. Thus, in Westernized cultures at least,one would expect, and can observe, a good deal ofconvergence in the mental representations andprocesses individuals acquire and the neuralsubstrates that are gradually specialized for thosefunctions even while significant individual differ-ences exist. However, in atypically developingindividuals, especially those with congenitalrather than acquired disorders, there is quite likelyto be an entirely different developmental trajec-tory towards a mature, if not ever stable,neurocognitive state that begins even before birth.The genetic and associated environmental impactcreated by such disorders will significantly influ-ence the nature of the developing neurocognitivemachinery so that what information can beacquired, represented, processed, and transformedis atypical throughout these individuals entirelives. One could argue, then, that the leastreasonable assumption one might make is thattheir neurocognitive state, at any point duringdevelopment, would or even should be the sameas that of a typically developing person of similarchronological or even mental age. This makeshypothesizing, predicting, and interpreting thenature and course of neurocognitive functioningand growth, particularly challenging and prone tosignificant error if one makes the oversimplisticassumption that the minds and brains of theseindividuals should be generally like those of theirtypical counterparts but are damaged or al-tered in some way (Johnson et al., 2002). Inreality, the challenge is more one of trying todetermine just what entirely different neurocog-nitive solution such individuals have created inresponse to their altered world and how that isstructurally and functionally configured.

    All of this means that, more than anything, itis critical for researchers conducting studies ofatypical development to focus on the delineationof an endophenotype of the domain of functionof interest. An endophenotype, according toGottesman and Gould (2003), consists of mea-sureable components unseen by the unaided eyealong the pathway between disease and distalgenotype [that] may be neurophysiological,biochemical, endocrinological, neuroanatomical in nature (p. 636). An endophenotype neednot be genetically heritable in the sense thatGottesman and Gould envisaged, but it should

    aid the process of explicating genotypepheno-type relationships by identifying tractable levels ofanalyses at which scientists can explain not justhow but also why the behavior and abilities ofatypically developing children or adults differsfrom their typically developing peers. Once suchexplanations exist, it is likely that scientists willbegin to identify targeted questions about howsubstrates or processes might be changed by arange of interventions such that different out-comes may be possible.

    In this special issue, we present a set of articlesthat begin that process by identifying atypicalitiesin a range of cognitive functions and in severalneurodevelopmental disorders. Some characterizedifferences in genetic type and expression; othersfocus on changes affecting cognitive processingand the mental representations on which itdepends. Another set characterizes differences interms of neural responses to cognitive taskdemands. In each case the authors seek to explainhow atypically developing individuals differ fromtheir typical peers and expect that, if theirhypotheses are supported by replications in theirown labs and those of others, these differencescould one day become targets for interventionsthat may vary as widely as gene therapy topharmacological agents to cognitive and behav-ioral training.

    In all six papers in this issue, the authorsapproach the endophenotyping issue in slightlydifferent but related ways. Four papers are focusedon two very heavily studied neurodevelopmentaldisorders of known genetic etiology, namelyWilliams and Down syndromes. Elsabbagh et al.explored how (mostly) adults with Williamssyndrome represent and computationally processauditory information by examining how it isstructured in mental representations and thenprocessed for coherence and relationships amongunits. Their research was motivated in part byattempting to explain how and why individualswith Williams syndrome have apparent strengthsin domains involving auditory information, suchas music and language. For them, the key to thesestrengths lies in the fact that for both kinds ofinformation, accessing and working with internalstructure of the auditory information are neces-sary to comprehend its content.

    In other words, there may be commonunderlying processes neither explicitly musicalor linguistic in nature that explain how thesehigher level competencies work. In a series of

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    Editorial T. J. Simon

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  • experiments, Elsabbagh et al. required participantsto determine which elements in a stream ofauditory input should be grouped together tomake meaningful units and which should besegregated from one another to create boundariesbetween those units. They found that adults withWilliams syndrome could segment unfamiliarmelodies as effectively as could typical controlson the basis of pitch. These authors also reportedthat despite their often vaunted linguistic andmusical strengths, individuals with Williamssyndrome could not take advantage of furthercues involving the contour of the elements in theauditory stream to more effectively segment them,whereas typical controls were able to us


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