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International Handbook of Mathematical Learning Difficulties pp 345–365Cite as

Genetics of Dyscalculia 2: In Search of Endophenotypes

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Abstract

In this chapter, we review the contribution of genetic syndromes to the understanding of developmental dyscalculia. The guideline for our review is the concept of cognitive endophenotype or intermediate cognitive phenotypes between the genetic/environmental etiologic level and the phenotypic level. Four potential endophenotypes are reviewed that could help clearing up genotypic-phenotypic correlations in dyscalculia: basic number processing, phonological processing, visuospatial and visuoconstructional processing, and working memory/executive functions. Endophenotypes are useful as a complexity-reducing strategy to understand dyscalculia subtypes and comorbidities. Evidence for a role of these endophenotypes comes from the association of dyscalculia and several genetic conditions. On the one hand, a verbal pattern of impairment is identified in Klinefelter syndrome. On the other hand, Turner, velocardiofacial, Williams, and fragile X syndromes present nonverbal difficulties in nonsymbolic number processing and visuospatial and visuoconstructional abilities. Impairments in working memory/executive functions are observed in virtually all conditions. We conclude reviewing the educational implications of the relatively specific patterns of impairments observed in these syndromes.

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Acknowledgments

The authors were supported by CAPES, CNPq, FAPEMIG, and SUS-FAPEMIG.

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Authors and Affiliations

  1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil

    Maria Raquel S. Carvalho

  2. Departamento de Psicologia, Faculdade de Filosofia e Ciências Humanas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    Vitor Geraldi Haase

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  1. Maria Raquel S. Carvalho
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Correspondence to Maria Raquel S. Carvalho .

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  1. Faculty of Education Sciences, Department of Psychology, University of Duisburg-Essen, Essen, Germany

    Annemarie Fritz

  2. Faculty of Education, Centre for Education Practice Research, University of Johannesburg, Johannesburg, South Africa

    Annemarie Fritz

  3. Departamento de Psicologia, Faculdade de Filosofia e Ciências Humanas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    Vitor Geraldi Haase

  4. Niilo Mäki Institute, Jyväskylä, Finland

    Pekka Räsänen

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Carvalho, M.R.S., Haase, V.G. (2019). Genetics of Dyscalculia 2: In Search of Endophenotypes. In: Fritz, A., Haase, V.G., Räsänen, P. (eds) International Handbook of Mathematical Learning Difficulties. Springer, Cham. https://doi.org/10.1007/978-3-319-97148-3_22

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