Dissecting the catatonia phenotype in psychotic and mood disorders on the basis of familial-genetic factors.

Autor: Peralta V; Mental Health Department, Servicio Navarro de Salud, Spain; Instituto de Investigación Sanitaria de Navarra (IdiSNa), Spain. Electronic address: victor.peralta.martin@cfnavarra.es., Fañanás L; Unitat d' Antropologia, Department of Biology Animal, Facultat de Biologia, Universitat de Barcelona, Spain; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Spain., Martín-Reyes M; Mental Health Department, Servicio Navarro de Salud, Spain; Instituto de Investigación Sanitaria de Navarra (IdiSNa), Spain., Cuesta MJ; Instituto de Investigación Sanitaria de Navarra (IdiSNa), Spain; Psychiatry Service, Complejo Hospitalario de Navarra, Spain.
Jazyk: angličtina
Zdroj: Schizophrenia research [Schizophr Res] 2018 Oct; Vol. 200, pp. 20-25. Date of Electronic Publication: 2017 Sep 14.
DOI: 10.1016/j.schres.2017.09.013
Abstrakt: Background: This study examines the familial aggregation (familiality) of different phenotypic definitions of catatonia in a sample of multiplex families with psychotic and mood disorders.
Methods: Participants were probands with a lifetime diagnosis of a DSM-IV functional psychotic disorder, their parents and at least one first-degree relative with a psychotic disorder. The study sample included 441 families comprising 2703 subjects, of whom 1094 were affected and 1609 unaffected. Familiality (h 2 ) was estimated by linear mixed models using family membership as a random effect, with h 2 indicating the portion of phenotypic variance accounted for by family membership.
Results: Familiality estimates highly varied for individual catatonia signs (h 2 =0.17-0.65), principal component analysis-derived factors (h 2 =0.29-0.49), number of catatonia signs present (h 2 =0.03-0.43) and severity of the catatonia syndrome (h 2 =0.25-0.59). Phenotypes maximizing familiality estimates included individual signs (mutism and rigidity, both h 2 =0.65), presence of ≥5 catatonia signs (h 2 =0.43), a classical catatonia factor (h 2 =0.49), a DSM-IV catatonia syndrome at a severity level of moderate or higher (h 2 =0.59) and the diagnostic construct of psychosis with prominent catatonia features (h 2 =0.56). Familiality estimates of a DSM-IV catatonia syndrome did not significantly differ across the diagnostic categories of psychotic and mood disorders (h 2 =0.40-0.47).
Conclusions: The way in which catatonia is defined has a strong impact on familiality estimates with some catatonia phenotypes exhibiting substantial familial aggregation, which may inform about the most adequate phenotypes for molecular studies. From a familial-genetic perspective, the catatonia phenotype in psychotic and mood disorders has a transdiagnostic character.
(Copyright © 2017 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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