Genetics of Dyscalculia 2: In Search of Endophenotypes

  • Maria Raquel S. CarvalhoEmail author
  • Vitor Geraldi Haase


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.


Dyscalculia Math learning Math disability Gene Endophenotypes Genetic syndromes 



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


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  • Maria Raquel S. Carvalho
    • 1
    Email author
  • Vitor Geraldi Haase
    • 2
  1. 1.Departamento de Biologia GeralInstituto de Ciências Biológicas, Universidade Federal de Minas Gerais (UFMG)Belo HorizonteBrazil
  2. 2.Departamento de PsicologiaFaculdade de Filosofia e Ciências Humanas, Universidade Federal de Minas GeraisBelo HorizonteBrazil

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