title: Executive functioning in anorexia nervosa patients and their unaffected relatives.
abstract: Formal genetic studies suggested a substantial genetic influence for anorexia nervosa (AN), but currently results are inconsistent. The use of the neurocognitive endophenotype approach may facilitate our understanding of the AN pathophysiology. We investigated decision-making, set-shifting and planning in AN patients (n=29) and their unaffected relatives (n=29) compared to healthy probands (n=29) and their relatives (n=29). The Iowa Gambling Task (IGT), the Tower of Hanoi (ToH) and the Wisconsin Card Sorting Test (WCST) were administered. Concordance rates and heritability indices were also calculated in probands/relatives. Impaired performance on the IGT and the WCST were found in both AN probands and their relatives, although planning appeared to be preserved. The IGT heritability index suggested the presence of genetic effects that influence this measure. No evidence for genetic effects was found for the WCST. The results suggest the presence of a shared dysfunctional executive profile in women with AN and their unaffected relatives, characterized by deficient decision-making and set-shifting. Concordance analysis strongly suggests that these impairments aggregate in AN families, supporting the hypothesis that they may constitute biological markers for AN. Decision-making impairment presents a moderate heritability, suggesting that decision-making may be a candidate endophenotype for AN.
authors.affiliation: Experimental Neurology Institute, INSPE, Vita-Salute San Raffaele University, Milan, Italy. galimberti.elisa@hsr.it
authors.forename: Elisa
authors.initials: E
authors.lastname: Galimberti
authors.forename: Emma
authors.initials: E
authors.lastname: Fadda
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Cavallini
authors.forename: Riccardo Maria
authors.initials: RM
authors.lastname: Martoni
authors.forename: Stefano
authors.initials: S
authors.lastname: Erzegovesi
authors.forename: Laura
authors.initials: L
authors.lastname: Bellodi
mesh_terms: D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D000856:Anorexia Nervosa / Q000150:complications*; D001288:Attention; D003072:Cognition Disorders / Q000209:etiology* / Q000523:psychology; D056344:Executive Function / Q000502:physiology*; D005190:Family / Q000523:psychology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009483:Neuropsychological Tests; D011569:Psychiatric Status Rating Scales; D055815:Young Adult
keywords: Decision-making; Endophenotypes; Heritability; Planning; Set-shifting