Mental Health Diagnoses Associated with Sex Chromosome Anomalies Open Access

Abstract

Mental Health Diagnoses Associated with Sex Chromosome Anomalies

By

Adaiah Priscillia Soibi-Harry

 

Background: Sex chromosome anomalies (SCA) are a group of congenital conditions that affect the number or structure of X and Y chromosomes. This study aims to characterize mental health diseases (MHD) commonly affecting SCA patients and compare the prevalence of MHD in individuals with SCA and matched referents.

Methods: Data from an ongoing study were used to identify eligible individuals enrolled in three Kaiser Permanente (KP) health plans between January 1, 1988, and January 31, 2017.¹ Participants with Klinefelter syndrome (KS), Turner syndrome (TS), or other SCA (TS and KS variants and mosaicisms) were identified using an electronic health record (EHR) screening algorithm, followed by a review of medical note excerpts and laboratory karyotype analysis results. Each SCA participant was matched with ten non-SCA males and ten non-SCA females on age (within five years), study site, race/ethnicity, and index date (enrollment date in the KP plan). Conditional Poisson regression models with a robust variance estimator, accounting for matched design, were used to compare the prevalence of each MHD across study groups. The results of each model were expressed as prevalence ratios (PR) and the corresponding 95% confidence intervals (CI).

Results: The analysis dataset included 261 participants with KS, 73 participants with TS, and 217 participants with Other SCA. MHDs were more prevalent in people with SCA across all categories. When KS patients were compared with male referents, the differences in prevalence were particularly pronounced for feeding and eating disorders (PR=12.5; 95% CI: 3.3-6.8), schizophrenia spectrum and other psychotic disorders (PR=4.3; 95% CI: 2.4-7.9), and suicidal ideation (PR=4.3; 95% CI 2.5-7.3). Among TS patients, the corresponding PR estimates relative to female referents were the highest for neuro-developmental disorders (4.5; 95% CI: 2.6-7.7) and disruptive, impulsive-control, and conduct disorders (2.4; 95% CI: 1.0-5.7). Personality disorders (PR=2.6; 95% CI 1.0-7.1) and neuro-developmental disorders (PR=3.4; 95% CI: 2.3-4.9) were notably higher in the other SCA group than among female referents.

Conclusion: People with SCA carry a greater MHD burden than the general population. Ensuring adequate access to and utilization of mental health services is an important healthcare priority in this group of patients.

 

Table of Contents

TABLE OF CONTENTS

INTRODUCTION.. 1

METHODS. 4

Study Setting and Data Sources. 4

Statistical analysis. 5

Ethical considerations. 6

RESULTS. 6

DISCUSSION AND CONCLUSIONS. 8

PUBLIC HEALTH IMPLICATIONS. 13

REFERENCES. 15

FIGURES AND TABLES. 23

REVIEW OF RELEVANT LITERATURE.. 29

About this Master's Thesis

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• Permission granted by the author to include this thesis or dissertation in this repository. All rights reserved by the author. Please contact the author for information regarding the reproduction and use of this thesis or dissertation.

School	Rollins School of Public Health
Department	Epidemiology
Subfield / Discipline	Epidemiology - MPH & MSPH
Degree	M.P.H.
Submission	Master's Thesis
Language	English
Research Field	Health Sciences, Mental Health Health Sciences, Obstetrics and Gynecology Health Sciences, Public Health
Keyword	Sex chromosome anomalies, Mental health disorders, Monosomy, Trisomy, Turner, Klinefelter
Committee Chair / Thesis Advisor	Goodman, Michael, Emory University

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