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Using genetics to understand dyslexia

  • Part II The Research Front
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Abstract

This paper reviews what is currently known about the genetics of dyslexia and shows how genetic studies can help clarify which symptoms are primary and which are secondary in dyslexia. On the genetic side, current evidence supports the view that dyslexia is familial, substantially heritable, and heterogeneous in its genetic mechanisms. At least some forms of familial dyslexia appear to be autosomal dominant, with linkage studies supporting both a major locus on chromosome 15 and genetic heterogeneity. On the symptom side, current evidence supports the view that the primary symptom in dyslexia is a deficit in the phonological coding of written language. This primary symptom likewise appears to be heritable. Recent evidence suggests that the heritable precursor to this written language deficit is a spoken language deficit in the skill of phoneme segmentation and awareness.

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References

  • Bisgaard, M. L., Eiberg, H., Moller, N., Niebuhr, E., and Mohr, J. 1987. Dyslexia and chromosome 15 heteromorphism: Negative lod score in a Danish material.Clinical Genetics 32:118–119.

    Article  Google Scholar 

  • Bradley, L. and Bryant, P. E. 1978. Difficulties in auditory organisation as a possible cause of reading backwardness.Nature 271:746–747.

    Article  Google Scholar 

  • Bradley, L. and Bryant, P. E. 1983. Categorizing sounds and learning to read—a causal connection.Nature 301:419–421.

    Article  Google Scholar 

  • Campbell, R. and Butterworth, B. 1985. Phonological dyslexia and dysgraphia in a highly literate subject: A developmental case with associated deficits of phonemeic awareness and processing.Quarterly Journal of Experimental Psychology 37:435–475.

    Google Scholar 

  • Catts, H. W. 1986. Speech production/phonological deficits in reading disordered children.Journal of Learning Disabilities 19:504–508.

    Google Scholar 

  • Catts, H. W. 1988. Phonological processing deficits and reading disabilities.In S. Kamhi and H. Catts (eds.).Reading Disabilities: A developmental language perspective. San Diego: College Hill Press.

    Google Scholar 

  • Conners, F. and Olson, R. K. In press. Reading comprehension in disabled and normal readers: a component-skills analysis.In D. A. Balota, G. B. Flores d’Arcais, and K. Rayner (eds.).Comprehension Processes in Reading. Hillsdale NJ: Erlbaum.

  • DeFries, J. C., Fulker, D. W., and LaBuda, M. C. 1987. Reading disability in twins: Evidence for a genetic etiology.Nature 329:537–539.

    Article  Google Scholar 

  • DeFries, J. C. (in press). Gender ratios in reading-disabled children and their affected relatives: A commentary.Journal of Learning Disabilities.

  • Finucci, J. M., Gutherie, J. T., Childs, A. L., Abbey, H., and Childs, B. 1976. The genetics of specific reading disability.Annual Review of Human Genetics 40:1–23.

    Google Scholar 

  • Fisher, J. H. 1905. Case of congenital word-blindness (inability to learn to read).Ophthalmological Review 24:315.

    Google Scholar 

  • Galaburda, A. M., Sherman, G. F., Rosen, G. D., Aboitiz, F., and Geschwind, N. 1985. Developmental dyslexia: Four consecutive patients with cortical anomalies.Annals of Neurology 18:222–232.

    Article  Google Scholar 

  • Geschwind, N. and Behan, P. O. 1982. Left-handedness: Association with immune disease, migraine, and developmental learning disorder.Proceedings from the National Academy of Science, USA 79:5097–5100.

    Article  Google Scholar 

  • Hallgren, B. 1950. Specific dyslexia (congenital word-blindness): A clinical and genetic study.Acta Psychiatrica et Neurologica Supplement 65:1–287.

    Google Scholar 

  • Hinshelwood, J. 1907. Four cases of congenital word-blindness occurring in the same family.British Medical Journal 2:1229–1232.

    Google Scholar 

  • Hinshelwood, J. 1911. Two cases of hereditary word-blindness.British Medical Journal 1:608–609.

    Article  Google Scholar 

  • Jorm, A. F. 1983. Specific reading retardation and working memory: A review.British Journal of Psychology 74:311–342.

    Google Scholar 

  • Katz, R. B. 1986. Phonological deficiencies in children with reading disability: Evidence from an object-naming task.Cognition, 22:225–257.

    Article  Google Scholar 

  • Kerr, J. 1897. School hygiene, in its mental, moral, and physical aspects. Howard Medical Prize Essay.Journal of the Royal Statistical Society 60:613–680.

    Article  Google Scholar 

  • Klasen, E. L. 1968.Legasthenia. Bern: Huber.

    Google Scholar 

  • LaBuda, M. C., DeFries, J. C., and Fulker, D. W. 1986. Multiple regression analysis of twin data obtained from selected samples.Genetic Epidemiology 3:425–433.

    Article  Google Scholar 

  • Lalouel, J. M., Rao, D. C., Morton, N. E., and Elston, R. C. 1983. A unified model for complex segregation analysis.American Journal of Human Genetics 35:816–826.

    Google Scholar 

  • Lewitter, F. I., DeFries, J. C., and Elston, R. C. 1980. Genetic models of reading disability.Behavior Genetics 10(1):9–30.

    Article  Google Scholar 

  • Mann, V. and Dituno, P. in press. Phonological deficiencies: Effective predictors of future reading problems.In G. Pavlides (ed.).Dyslexia: A neuropsychological and learning perspective. Wiley.

  • Morais, J., Cary, L., Alegria, J., and Bertelson, P. 1979. Does awareness of speech as a sequence of phones arise spontaneously?Cognition 7:323–331.

    Article  Google Scholar 

  • Morgan, W. P. 1896. A case of congenital word-blindness.British Medical Journal 2:1543–1544.

    Google Scholar 

  • Naidoo, S. 1972.Specific Dyslexia. London: Pitman.

    Google Scholar 

  • Olson, R. K. 1985. Disabled reading processes and cognitive profiles.In D. B. Gray and J. K. Kavanaugh (eds.).Biobehavioral Measures of Dyslexia. Parkton, Maryland: York Press.

    Google Scholar 

  • Olson, R., Wise, B., Conners, F., and Rack, J. In press. Specific deficits in component reading and language skills: Genetic and environmental influences.Journal of Learning Disabilities.

  • Ott, J. 1985. Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human studies.American Journal of Human Genetics 26:588–597.

    Google Scholar 

  • Pauls, D. L., Hurst, C. R., Kruger, S. D., Leckman, J. F., Kidd, K. K., and Cohen, D. J. 1986. Gilles de la Tourette’s syndrome and attention deficit disorder with hyperactivity: Evidence against a genetic relationship.Archives of General Psychiatry 43:1177–1179.

    Google Scholar 

  • Pennington, B. F., Bender, B., Puck, M., Salbenblatt, J., and Robinson, A. 1982. Learning disabilities in children with sex chromosome anomalies.Child Development 53:1182–1192.

    Article  Google Scholar 

  • Pennington, B. F., McCabe, L. L., Smith, S. D., Lefly, D. L., Bookman, M. O., Kimberling, W. J., and Lubs, H. A. 1986. Spelling errors in adults with a form of familial dyslexia.Child Development 57:1001–1013.

    Article  Google Scholar 

  • Pennington, B. F., Smith, S. R., Kimberling, W., Green, P. A., and Haith, M. M. 1987. Left-handedness and immune disorders in familial dyslexics.Archives of Neurology 44:634–639.

    Google Scholar 

  • Pennington, B. F. and Smith, S. D. 1988. Genetic influences on learning disabilities: An update.Journal of Consulting and Clinical Psychology 56:817–823.

    Article  Google Scholar 

  • Pennington, B. F., Van Orden, G. O., Kirson, D. A., and Harth, M. M. In press. What is the causal relationship between verbal STM problems and dyslexia?In S. Brady and D. Shankweiler (eds.).Phonological Processes in Literacy. Hillsdale, NJ: Lawrence Erlbaum Associates.

  • Pratt, A. and Brady, S. 1988. The relationship of phonological awareness to reading disability in children and adults.Journal of Educational Psychology 80:319–323.

    Article  Google Scholar 

  • Smith, S. D., Kimberling, W. J., Pennington, B. F., and Lubs, H. A. 1983. Specific reading disability: Identification of an inherited form through linkage and analysis.Science 219:1345–1347.

    Article  Google Scholar 

  • Smith, S. D., Pennington, B. F., Kimberling, W. J., and Ing, P. S. In press. Familial dyslexia: Use of genetic linkage data to define subtypes.Journal of the American Academy of Child Psychiatry.

  • Stanovich, K. 1982a. Individual differences in the cognitive processes of reading: I. Word decoding.Journal of Learning Disabilities 15:485–493.

    Google Scholar 

  • Stanovich, K. 1982b. Individual differences in the cognitive processes of reading: II. Text-level processes.Journal of Learning Disabilities 15:549–554.

    Google Scholar 

  • Stephenson, S. 1907. Six cases of congenital word-blindness affecting three generations of one family.Ophthalmoscope 5:482–484.

    Google Scholar 

  • Stevenson, J., Graham, P., Fredman, G., and McLoughlin, V. 1986. A twin study of genetic influences on reading and spelling ability and disability.Journal of Child Psychology and Psychiatry 28:231–247.

    Google Scholar 

  • Thomas, C. J. 1905. Congenital “word-blindness” and its treatment.Ophthalmoscope 3:380–385.

    Google Scholar 

  • Vellutino, F. R. 1979.Dyslexia: Theory and research. Cambridge, MA: MIT Press.

    Google Scholar 

  • Vogler, G. P., DeFries, J. C., and Decker, S. N. 1985. Family history as an indicator of risk for reading disability.Journal of Learning Disabilities 18:419–421.

    Google Scholar 

  • Wagner, R. K. and Torgesen, J. K. 1987. The nature of phonological processing and its causal role in the acquisition of reading skills.Psychological Bulletin 101:192–212.

    Article  Google Scholar 

  • Zahalkova, M., Vrzal, V., and Kloboukova, E. 1972. Genetical investigations in dyslexia.Journal of Medical Genetics 9:48–52.

    Google Scholar 

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  1. University of Denver, Denver, Colorado

    Bruce F. Pennington

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  1. Bruce F. Pennington
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Pennington, B.F. Using genetics to understand dyslexia. Annals of Dyslexia 39, 81–93 (1989). https://doi.org/10.1007/BF02656902

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