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Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate

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ADHD Attention Deficit and Hyperactivity Disorders

Abstract

Endophenotypes are neurobiological markers cosegregating and associated with illness. These biomarkers represent a promising strategy to dissect ADHD biological causes. This study was aimed at contrasting the genetics of neuropsychological tasks for intelligence, attention, memory, visual-motor skills, and executive function in children from multigenerational and extended pedigrees that cluster ADHD in a genetic isolate. In a sample of 288 children and adolescents, 194 (67.4%) ADHD affected and 94 (32.6%) unaffected, a battery of neuropsychological tests was utilized to assess the association between genetic transmission and the ADHD phenotype. We found significant differences between affected and unaffected children in the WISC block design, PIQ and FSIQ, continuous vigilance, and visual-motor skills, and these variables exhibited a significant heritability. Given the association between these neuropsychological variables and ADHD, and also the high genetic component underlying their transmission in the studied pedigrees, we suggest that these variables be considered as potential cognitive endophenotypes suitable as quantitative trait loci (QTLs) in future studies of linkage and association.

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Acknowledgments

This research was funded by COLCIENCIAS, University of Antioquia, University of San Buenaventura and the NHGRI-NIH, who granted the Project: “Genética del Trastorno de Atención-Hiperactividad: los fenotipos complejos, los endofenotipos y la asociación con genes mayores y de susceptibilidad”. Code: 1115-04-18083, Contract: 459-2005.

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Authors and Affiliations

  1. Group of Neurosciences of Antioquia, University of Antioquia, Medellin, Colombia

    David A. Pineda, Francisco Lopera, Isabel C. Puerta, Natalia Trujillo-Orrego, Daniel C. Aguirre-Acevedo, Liliana Hincapié-Henao, Clara P. Arango, Juan David Palacio & Daniel E. Pineda-Alvarez

  2. Group of Neuropsychology and Conduct Disorder, University of San Buenaventura, Medellin, Colombia

    David A. Pineda, Isabel C. Puerta, Natalia Trujillo-Orrego, Daniel C. Aguirre-Acevedo & Clara P. Arango

  3. National Human Genome Research Institute, National Institutes of Health, 35 Convent Dr., MSC 3717, Building 35, Room 1B209, Bethesda, MD, 20892, USA

    Maria T. Acosta, Daniel E. Pineda-Alvarez, Jorge I. Velez, Ariel F. Martinez, Maximilian Muenke & Mauricio Arcos-Burgos

  4. Department of Psychiatry and Behavioral Sciences, Leonard M. Miller School of Medicine, University of Miami, Miami, FL, USA

    Sandra I. Holzinger & John E. Lewis

Authors
  1. David A. Pineda
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  2. Francisco Lopera
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  3. Isabel C. Puerta
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  4. Natalia Trujillo-Orrego
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  6. Liliana Hincapié-Henao
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  7. Clara P. Arango
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  8. Maria T. Acosta
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  9. Sandra I. Holzinger
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  10. Juan David Palacio
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  11. Daniel E. Pineda-Alvarez
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  12. Jorge I. Velez
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  13. Ariel F. Martinez
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  14. John E. Lewis
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  15. Maximilian Muenke
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  16. Mauricio Arcos-Burgos
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Corresponding authors

Correspondence to Maximilian Muenke or Mauricio Arcos-Burgos.

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Pineda, D.A., Lopera, F., Puerta, I.C. et al. Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate. ADHD Atten Def Hyp Disord 3, 291–299 (2011). https://doi.org/10.1007/s12402-011-0061-3

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