title: Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate.
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.
authors.affiliation: Group of Neurosciences of Antioquia, University of Antioquia, Medellin, Colombia.
authors.forename: David A
authors.initials: DA
authors.lastname: Pineda
authors.forename: Francisco
authors.initials: F
authors.lastname: Lopera
authors.forename: Isabel C
authors.initials: IC
authors.lastname: Puerta
authors.forename: Natalia
authors.initials: N
authors.lastname: Trujillo-Orrego
authors.forename: Daniel C
authors.initials: DC
authors.lastname: Aguirre-Acevedo
authors.forename: Liliana
authors.initials: L
authors.lastname: Hincapié-Henao
authors.forename: Clara P
authors.initials: CP
authors.lastname: Arango
authors.forename: Maria T
authors.initials: MT
authors.lastname: Acosta
authors.forename: Sandra I
authors.initials: SI
authors.lastname: Holzinger
authors.forename: Juan David
authors.initials: JD
authors.lastname: Palacio
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Pineda-Alvarez
authors.forename: Jorge I
authors.initials: JI
authors.lastname: Velez
authors.forename: Ariel F
authors.initials: AF
authors.lastname: Martinez
authors.forename: John E
authors.initials: JE
authors.lastname: Lewis
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.forename: Mauricio
authors.initials: M
authors.lastname: Arcos-Burgos
mesh_terms: D000293:Adolescent; D000328:Adult; D001288:Attention; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics / Q000523:psychology*; D016022:Case-Control Studies; D002648:Child; D003071:Cognition; D058068:Endophenotypes; D056344:Executive Function; D005190:Family / Q000523:psychology*; D005260:Female; D006801:Humans; D007360:Intelligence; D008297:Male; D008568:Memory; D015233:Models, Statistical; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D010375:Pedigree; D012680:Sensitivity and Specificity