Psychopathology in adults with copy number variants

R.L. Adams, A. Baird, J. Smith, N. Williams, M.B.M. van den Bree, D.E.J. Linden*, M.J. Owen, J. Hall, S.C. Linden*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Background Copy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood. Methods We investigated the psychiatric phenotypes of adult CNV carriers and compared probands, who were ascertained through clinical genetics services, with carriers who were not. One hundred twenty-four adult participants (age 18-76), each bearing one of 15 rare CNVs, were recruited through a variety of sources including clinical genetics services, charities for carriers of genetic variants, and online advertising. A battery of psychiatric assessments was used to determine psychopathology. Results The frequencies of psychopathology were consistently higher for the CNV group compared to general population rates. We found particularly high rates of neurodevelopmental disorders (NDDs) (48%), mood disorders (42%), anxiety disorders (47%) and personality disorders (73%) as well as high rates of psychiatric multimorbidity (median number of diagnoses: 2 in non-probands, 3 in probands). NDDs [odds ratio (OR) = 4.67, 95% confidence interval (CI) 1.32-16.51; p = 0.017) and psychotic disorders (OR = 6.8, 95% CI 1.3-36.3; p = 0.025) occurred significantly more frequently in probands (N = 45; NDD: 39[87%]; psychosis: 8[18%]) than non-probands (N = 79; NDD: 20 [25%]; psychosis: 3[4%]). Participants also had somatic diagnoses pertaining to all organ systems, particularly conotruncal cardiac malformations (in individuals with 22q11.2 deletion syndrome specifically), musculoskeletal, immunological, and endocrine diseases. Conclusions Adult CNV carriers had a markedly increased rate of anxiety and personality disorders not previously reported and high rates of psychiatric multimorbidity. Our findings support in-depth psychiatric and medical assessments of carriers of CNVs and the establishment of multidisciplinary clinical services.
Original languageEnglish
Article number0033291721005201
Pages (from-to)3142-3149
Number of pages8
JournalPsychological Medicine
Volume53
Issue number7
Early online date11 Feb 2022
DOIs
Publication statusPublished - May 2023

Keywords

  • Psychiatric genetics
  • anxiety disorders
  • mood disorders
  • psychosis
  • neurodevelopmental disorders
  • personality disorders
  • somatic phenotypes
  • INTERRATER RELIABILITY
  • MENTAL-DISORDERS
  • PREVALENCE
  • RISK
  • SCHIZOPHRENIA
  • DISABILITIES
  • METAANALYSIS
  • INTERVIEW
  • SYMPTOMS
  • VALIDITY

Fingerprint

Dive into the research topics of 'Psychopathology in adults with copy number variants'. Together they form a unique fingerprint.

Cite this