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

David A. Pineda, Francisco Lopera, Isabel C. Puerta, Natalia Trujillo-Orrego, Daniel C. Aguirre-Acevedo, Liliana Hincapié-Henao, Clara P. Arango, Maria T. Acosta, Sandra I. Holzinger, Juan David Palacio, Daniel E. Pineda-Alvarez, Jorge I. Velez, Ariel F. Martinez, John E. Lewis, Maximilian Muenke, Mauricio Arcos-Burgos

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)291-299
Number of pages9
JournalADHD Attention Deficit and Hyperactivity Disorders
Issue number3
StatePublished - Sep 2011


  • ADHD
  • Attention
  • Behavior
  • Endophenotypes
  • Genetics
  • Memory

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Clinical Psychology


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