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. 2020 Dec;65(12):865-873.
doi: 10.1177/0706743720931234. Epub 2020 Jun 4.

High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations

Joyce So  1   2   3   4   5   6 , Venuja Sriretnakumar  2   3 , Jessica Suddaby  1 , Brianna Barsanti-Innes  2 , Hanna Faghfoury  1   4 , Timothy Gofine  5   6
Affiliations

High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations

Joyce So et al. Can J Psychiatry. 2020 Dec.

Abstract
in English, French

Objective: There is a paucity of literature on genetic diagnosis in psychiatric populations, particularly the vulnerable population of patients with concomitant neurodevelopmental disorder (NDD). In this cross-sectional study, we investigated the genetic diagnostic rate in 151 adult psychiatric patients from two centers in Ontario, Canada, including a large subset (73.5%) with concurrent NDD, and performed phenotypic analysis to determine the strongest predictors for the presence of a genetic diagnosis.

Method: Patients 16 years of age or older and affected with a psychiatric disorder plus at least one of NDD, neurological disorder, congenital anomaly, dysmorphic features, or family history of NDD were recruited through the genetics clinics between 2012 and 2016. Patients underwent genetic assessment and testing according to clinical standards. Chi-squared test was used for phenotypic comparisons. Multivariate logistic regression analysis was performed to determine which phenotypic features were predictive of genetic diagnosis types.

Results: Overall, 45.7% of patients in the total cohort were diagnosed with genetic disorders with the vast majority of diagnoses (89.9%) comprising single gene and chromosomal disorders. There were management and treatment implications for almost two-thirds (63.8%) of diagnosed patients. Presence of a single gene disorder or chromosomal diagnosis was predicted by differing combinations of neurological, NDD, and psychiatric phenotypes.

Conclusion: The results of this study highlight the frequency and impact of genetic diagnosis in psychiatric populations, particularly those with concomitant NDD. Genetic assessment should be considered in psychiatric patients, particularly those with multiple brain phenotypes (psychiatric, neurodevelopmental, neurological).

Objectif :: Il y a un manque dans la littérature à l’égard du diagnostic génétique dans les populations psychiatriques, particulièrement pour la population vulnérable de patients qui présentent un trouble neurodéveloppemental (TND) concomitant. Dans la présente étude transversale, nous avons recherché le taux des diagnostics génétiques chez 151 patients psychiatriques adultes de deux centres de l’Ontario, Canada, incluant un vaste sous-ensemble (73,5%) souffrant d’un TND concomitant, et nous avons mené une analyse phénotypique pour déterminer les prédicteurs les plus efficaces de la présence d’un diagnostic génétique.

Méthodes :: Les patients de 16 ans ou plus souffrant d’un trouble psychiatrique en plus d’au moins un TND, d’un trouble neurologique, d’une anomalie congénitale, de traits dysmorphiques ou d’antécédents familiaux de TND ont été recrutés dans des cliniques génétiques entre 2012 et 2016. Les patients ont subi une évaluation et un dépistage génétique conformément aux normes cliniques. Un test du chi carré a été utilisé pour les comparaisons phénotypiques. Une analyse de régression logistique multivariée a été menée afin de déterminer quelles caractéristiques phénotypiques prédisaient les types de diagnostic génétique.

Résultats :: Généralement, 45.7% des patients de toute la cohorte avaient reçu un diagnostic de troubles génétiques, et la vaste majorité des diagnostics (89.9%) comprenaient des troubles monogéniques et chromosomiques. Il y avait des implications pour la prise en charge et le traitement chez près des deux tiers (63.8%) des patients diagnostiqués. La présence d’un trouble monogénique ou d’un diagnostic chromosomique était prédite par différentes combinaisons de phénotypes neurologiques, de TND et psychiatriques.

Conclusion :: Les résultats de cette étude montrent la fréquence et l’effet d’un diagnostic génétique dans les populations psychiatriques, particulièrement celles qui souffrent d’un TND concomitant. L’évaluation génétique devrait être prise en considération chez les patients psychiatriques, particulièrement ceux qui présentent de multiples phénotypes du cerveau (psychiatriques, neurodéveloppementaux, neurologiques).

Keywords: adult psychiatry; dual diagnosis; genetics; screening.

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Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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