Skip to main content Accessibility help

Neurocognitive studies of language impairments: The bottom-up approach



Neurocognitive studies can approach gene-based developmental language impairments from two angles, which are complementary and ideally combined in a research program. One approach aims at an optimal phenotypic description of a disorder and from there proceeds to a biological and developmental understanding. Complementary to such a top-down approach, a bottom-up perspective will primarily focus on potential etiological pathways and attempt to explain complex outcome phenotypes in terms of elementary developmental disturbances. My paper is dedicated to this latter approach. I argue that in behaviorally defined disorders (such as specific language impairment or autism) shared genetic risk and common etiology can at best be expected for specific aspects of language deficit and that such shared etiology will only apply to subtypes of these disorders. One reason for this skepticism is that the emerging language system in children can be affected in many different ways via more elementary sensory, perceptual, cognitive, and motor impairments. Neurocognitive research on developmental language disorders relies on an understanding of such potential elementary disturbances before it can confidently proceed to the study of complex linguistic impairments.


Corresponding author

Ralph-Axel Müller, PhD, Department of Psychology, San Diego State University, 6363 Alvarado Ct., #225 E, San Diego, CA 92120-4913. E-mail:


Hide All
Amunts K., Schlaug G., Jäncke L., Steinmetz H., Schleicher A., Dabringhaus A., & Zilles K. 1997. Motor cortex and hand motor skills: Structural compliance in the human brain. Human Brain Mapping, 5, 206215.
Bailey D. B. Jr., Hatton D. D., Skinner M., & Mesibov G. 2001. Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. Journal of Autism and Developmental Disorders, 31, 165174.
Baron–Cohen S., Ring H. A., Wheelwright S., Bullmore E. T., Brammer M. J., Simmons A., & Williams S. C. 1999. Social intelligence in the normal and autistic brain: An fMRI study. European Journal of Neuroscience, 11, 18911898.
Bellugi U., Bihrle A., Jernigan T., Trauner D., & Doherty S. 1990. Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. American Journal of Medical Genetics, 6 (Suppl), 115125.
Bellugi U., Bihrle A., Neville H., Doherty S., & Jernigan T. 1992. Language, cognition, and brain organization in a neurodevelopmental disorder. In C. A. N. Megan R. Gunnar (Ed.), The Minnesota Symposia on Child Psychology: Vol. 24. Developmental behavioral neuroscience. (pp. xiii, 249): Hillsdale, NJ: Erlbaum.
Brown J. W. 1988. Introduction: Microgenetic theory. In J. W. Brown (Ed.), The life of the mind (pp. 126). Hillsdale, NJ: Erlbaum.
Carpenter A., Sinclair J., Ronan M. T., & Lissner K. 1992. Personal essays. In E. Schopler & G. Mesibov (Eds.), High-functioning individuals with autism (pp. 289306). New York: Plenum Press.
Carston R. 2000. The relationship between generative grammar and (relevance–theoretic) pragmatics. Language and Communication, 20, 87103.
Charman T. 2003. Why is joint attention a pivotal skill in autism? Philosophical Transactions of the Royal Society of London B Biological Sciences, 358 (1430), 315324.
Churchland P. S. 1986. Neurophilosophy. Cambridge, MA: MIT Press.
Clahsen H. 1989. The grammatical characterization of developmental dysphasia. Linguistics, 27, 897920.
Clark M. M., & Plante E. 1998. Morphology of the inferior frontal gyrus in developmentally language-disordered adults. Brain and Language, 61, 288303.
Courchesne E., Karns C. M., Davis H. R., Ziccardi R., Carper R. A., Tigue Z. D., Chisum H. J., Moses P., Pierce K., Lord C., Lincoln A. J., Pizzo S., Schreibman L., Haas R. H., Akshoomoff N. A., & Courchesne R. Y. 2001. Unusual brain growth patterns in early life in patients with autistic disorder: An MRI study. Neurology, 57, 245254.
Desimone R., Albright T. D., Gross C. G., & Bruce C. 1984. Stimulus-selective properties of inferior temporal neurons in the macaque. Journal of Neuroscience, 4, 20512062.
Donnai D., & Karmiloff–Smith A. 2000. Williams syndrome: from genotype through to the cognitive phenotype. American Journal of Medical Genetics, 97, 164171.
Dunn M., Gomes H., & Sebastian M. J. 1996. Prototypicality of responses of autistic, language disordered, and normal children in a word fluency task. Child Neuropsychology, 2, 99108.
Eden G. F., VanMeter J. W., Rumsey J. M., Maisog J. M., Woods R. P., & Zeffiro T. A. 1996. Abnormal processing of visual motion in dyslexia revealed by functional brain imaging. Nature, 382 (6586), 6669.
Fisher S. E. 2005. Dissection of molecular mechanisms underlying speech and language disorders. Applied Psycholinguistics, 26, 111128.
Fisher S. E., Vargha–Khadem F., Watkins K. E., Monaco A. P., & Pembrey M. E. 1998. Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics, 18, 168170.
Gauger L. M., Lombardino L. J., & Leonard C. M. 1997. Brain morphology in children with specific language impairment. Journal of Speech, Language, and Hearing Research, 40, 12721284.
Gopnik M. 1990. Feature blindness: A case study. Language Acquisition: A Journal of Developmental Linguistics, 1, 139164.
Gottlieb G., & Halpern C. T. 2002. A relational view of causality in normal and abnormal development. Development and Psychopathology, 14, 421435.
Grandin T. 1992. An inside view of autism. In E. Schopler & G. Mesibov (Eds.), High-functioning individuals with autism (pp. 105126). New York: Plenum Press.
Grant J., Valian V., & Karmiloff-Smith A. 2002. A study of relative clauses in Williams syndrome. Journal of Child Language, 29, 403416.
Hammer S., Dorrani N., Dragich J., Kudo S., & Schanen C. 2002. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Mental Retardation and Developmental Disabilities Research Review, 8, 9498.
Herbert M. R., Harris G. J., Adrien K. T., Ziegler D. A., Makris N., Kennedy D. N., Lange N. T., Chabris C. F., Bakardjiev A., Hodgson J., Takeoka M., Tager-Flusberg H., & Caviness V. S. Jr. 2002. Abnormal asymmetry in language association cortex in autism. Annals of Neurology, 52, 588596.
Hoshi Y. 2003. Functional near-infrared optical imaging: Utility and limitations in human brain mapping. Psychophysiology, 40, 511520.
Jackson T., & Plante E. 1996. Gyral morphology in the posterior Sylvian region in families affected by developmental language disorder. Neuropsychology Review, 6, 8194.
Kanwisher N., Downing P., Epstein R., & Kortzi Z. 2001. Functional neuroimaging of visual recognition. In R. Cabeza & K. A. (Eds.), Handbook of functional neuroimaging (pp. 109151). Cambridge, MA: MIT Press.
Lai C. S., Fisher S. E., Hurst J. A., Vargha–Khadem F., & Monaco A. P. 2001. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413 (6855), 519523.
Lord C., & Paul R. 1997. Language and communication in autism. In D. J. Cohen & F. R. Volkmar (Eds.), Handbook of autism and pervasive developmental disorders (pp. 195225). New York: Wiley.
Marcus G. F., & Fisher S. E. 2003. FOXP2 in focus: What can genes tell us about speech and language? Trends in Cognitive Science, 7, 257262.
Mesulam M.-M. 1998. From sensation to cognition. Brain, 121, 10131052.
Morris C. A. 2004. Genotype–phenotype correlations: Lessons from Williams syndrome research. In M. Rice & S. Warren (Eds.), Developmental language disorders: From phenotypes to etiolo- gies (pp. 355369). Mahwah, NJ: Erlbaum.
Müller R.-A. 2004. Genes, language disorders, and developmental archaeology: What role can neuroimaging play? In M. Rice & S. Warren (Eds.), Developmental language disorders: From phenotypes to etiologies (pp. 291328). Mahwah, NJ: Erlbaum.
Müller R.-A., & Basho S. 2004. Are nonlinguistic functions in “Broca's area” prerequisites for language acquisition? fMRI findings from an ontogenetic viewpoint. Brain and Language, 89, 329336.
Müller R.-A., Kleinhans N., Kemmotsu N., Pierce K., & Courchesne E. 2003. Abnormal variability and distribution of functional maps in autism: An fMRI study of visuomotor learning. American Journal of Psychiatry, 160, 18471862.
Nelson K. B., Grether J. K., Croen L. A., Dambrosia J. M., Dickens B. F., Jelliffe L. L., Hansen R. L., & Phillips T. M. 2001. Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. Annals of Neurology, 49, 597606.
Newmeyer F. J. 1998. Language form and language function. Cambridge, MA: MIT Press.
Osterling J. A., Dawson G., & Munson J. A. 2002. Early recognition of 1-year-old infants with autism spectrum disorder versus mental retardation. Development and Psychopathology, 14, 239251.
Phillips C. 2005. Electrophysiology in the study of developmental language impairments: Prospects and challenges for a top-down approach. Applied Psycholinguistics, 26, 7996.
Pinker S. 1999 Words and rules. New York: Basic Books.
Plante E., Swisher L., Vance R., & Rapcsak S. 1991. MRI findings in boys with specific language impairment. Brain and Language, 41, 5266.
Price C. J., & Friston K. J. 1997. Cognitive conjunction: A new approach to brain activation experiments. Neuroimage, 5, 261270.
Rapin I., & Dunn M. 2003. Update on the language disorders of individuals on the autistic spectrum. Brain and Development, 25, 166172.
Rice M. L. 2004. Growth models of developmental language disorders. In M. Rice & S. Warren (Eds.), Developmental language disorders: From phenotypes to etiologies (pp. 207240). Mahwah, NJ: Erlbaum.
Rizzolatti G., Fogassi L., & Gallese V. 2002. Motor and cognitive functions of the ventral premotor cortex. Current Opinion in Neurobiology, 12, 149154.
Rogers S. J., Hepburn S. L., Stackhouse T., & Wehner E. 2003. Imitation performance in toddlers with autism and those with other developmental disorders. Journal of Child Psychology and Psychiatry, 44, 763781.
Schlaug G., Jänicke L., Huang Y., & Steinmetz H. 1995. In vivo evidence of structural brain asymmetry in musicians. Science, 267, 699701.
Scriver C. R. 2002. Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics. Journal of Pediatrics, 140, 502506.
Scriver C. R., & Waters P. J. 1999. Monogenic traits are not simple: lessons from phenylketonuria. Trends in Genetics, 15, 267272.
Tager–Flusberg H. 1981. On the nature of linguistic functioning in early infantile autism. Journal of Autism and Developmental Disorders, 11, 4556.
Tager–Flusberg H. 2004. Do autism and specific language impairment represent overlapping language disorders? In M. Rice & S. Warren (Eds.), Developmental language disorders: From phenotypes to etiologies (pp. 3152). Mahwah, NJ: Erlbaum.
Tager–Flusberg H., & Joseph R. M. 2003 Identifying neurocognitive phenotypes in autism. Philosophical Transactions of the Royal Society of London B Biological Sciences, 358 (1430), 303314.
Tallal P., Galaburda A. M., & Llinás R. R. (Eds.). 1993 Temporal information processing in the nervous system (Vol. 682). New York: New York Academy of Sciences.
Tomasello M. 2000. Do young children have adult syntactic competence? Cognition, 74, 209253.
Watkins K. E., Dronkers N. F., & Vargha–Khadem F. 2002. Behavioural analysis of an inherited speech and language disorder. Comparison with acquired aphasia. Brain, 125, 452464.
Weckerly J., Wulfeck B., & Reilly J. 2004. The development of morphosyntactic ability in atypical populations: The acquisition of tag questions in children with early focal lesions and children with specific language impairment. Brain and Language, 88, 190201.
Williams J. H., Whiten A., Suddendorf T., & Perrett D. I. 2001. Imitation, mirror neurons and autism. Neuroscience and Biobehavioral Reviews, 25, 287295.
Zukowski A. 2004. Investigating knowledge of complex syntax: Insights from experimental studies of Williams syndrome. In M. Rice & S. Warren (Eds.), Developmental language disorders: From phenotypes to etiologies (pp. 99119). Mahwah, NJ: Erlbaum.

Neurocognitive studies of language impairments: The bottom-up approach



Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed