The Relationship of Physical Function and Psychosocial Health on Quality of Life in Individuals with 48,XXYY Open Access
Blumling, Amy (Summer 2020)
Abstract
Background:
Sex Chromosome Aneuploidies (SCAs) are genetic disorders characterized by variations in the number of X and/or Y chromosomes. 48,XXYY is a rare SCA. Individuals with 48,XXYY experience physical, psychosocial, and neurocognitive symptoms affecting their health. Few studies have utilized self-report surveys to explore symptoms and quality of life. No studies have yet used mixed methodologies to obtain first-hand accounts of self-described health status and needs.
Methods:
This dissertation study utilized a cross-sectional, descriptive mixed methods design to explore health and quality of life of men with 48,XXYY. Participants first completed demographic information and symptom surveys, including the Beck Depression Inventory (BDI-II), the Beck Anxiety Inventory (BAI), and the 36-Item Short Form Survey (SF-36). A subset of participants was purposively chosen to then complete interviews that explored health, quality of life, and healthcare needs.
Results:
Twenty-two participants completed surveys. Results of BDI-II and BAI demonstrated that 50% of participants reported mild to severe depressive symptoms and 54.5% reported mild to severe anxiety symptoms. Participants scored high on SF-36 subscales: Physical functioning (mdn = 85), Emotional wellbeing (mdn = 72), and Social functioning (mdn = 75). Independent living was associated with higher BDI-II total (p = 0.049). Current employment was associated with higher physical functioning (p = 0.025) and higher emotional wellbeing (p = 0.030). Common themes from 10 qualitative interview analyses included: impact of reproductive health issues on psychosocial health; how others perceive tremors; and the relationship among emotions, socialization, and fatigue attributed to perceived testosterone levels.
Discussion:
While participants reported high levels of depression and anxiety, they generally reported good quality of life. Psychosocial health concerns were most impactful on quality of life. Triangulation of data explained how depressive or anxious symptoms were often related to social contexts, such as difficulty with intimate relationships, negative social interactions, and lack of independence.
Conclusions:
This study was the first to utilize mixed methodology to report anxiety, depressive symptoms, and quality of life in a sample of men with 48,XXYY. These results provide a foundation for future research that will inform intervention development to address physical and psychosocial healthcare needs in this population.
Table of Contents
Table of Contents
Chapter 1. Introduction...................................................................................................... 1
Introduction.............................................................................................................. 2
Significance and Background................................................................................. 5
Sex Chromosome Aneuploidies..................................................................... 5
48,XXYY Syndrome........................................................................................ 6
Current Evidence on 48,XXYY....................................................................... 8
Conceptual Framework........................................................................................... 9
Biopsychosocial Model.................................................................................. 9
Innovation................................................................................................................. 10
Methods..................................................................................................................... 11
Design............................................................................................................ 11
Quantitative Strand........................................................................................ 12
Qualitative Strand.......................................................................................... 12
Setting............................................................................................................ 13
Sample and Sample Recruitment................................................................... 14
Sample Size.................................................................................................... 16
Variables and Measures................................................................................ 17
Human Subjects Protection............................................................................ 19
Procedures..................................................................................................... 19
Data Privacy and Confidentiality.................................................................. 22
Analysis..................................................................................................................... 23
Quantitative Data Analysis............................................................................ 23
Qualitative Data Analysis.............................................................................. 24
Triangulation and Integration of Data.......................................................... 26
Study Implications................................................................................................... 27
Structure of the Dissertation................................................................................... 28
Manuscripts Deriving from this Research............................................................. 29
Summary and Scientific Premise............................................................................ 30
References................................................................................................................. 32
Chapter 2. Rare Sex Chromosome Variation 48,XXYY: An Integrative Review......... 42
Abstract..................................................................................................................... 43
Background.............................................................................................................. 44
Clinical Description................................................................................................. 44
Sex Chromosome Aneuploidies...................................................................... 44
Genetic Derivation of Sex Chromosome Aneuploidies.................................. 45
Incidence........................................................................................................ 46
Phenotype and Health Risks of Sex Chromosome Aneuploidies................... 46
Methods......................................................................................................... ........... 49
Results....................................................................................................................... 50
Physical Phenotype........................................................................................ 52
Psychosocial and Behavioral Aspects........................................................... 56
Neurocognitive and Brain Function.............................................................. 61
Discussion................................................................................................................. 65
Limitations..................................................................................................... 68
Conclusions............................................................................................................... 69
References................................................................................................................. 82
Chapter 3. Navigating Methodological Research Challenges with Men Diagnosed with 48,XXYY.......................................................................................................................... 89
Abstract..................................................................................................................... 90
Background.............................................................................................................. 91
Research with Individuals with Intellectual Disability or Varying Neurocognitive Abilities.......................................................................................................... 92
Research with Individuals with Sex Chromosome Aneuploidies................... 95
Methods..................................................................................................................... 97
Results....................................................................................................................... 103
Consent Capacity and the MacCAT-CR........................................................ 103
Survey and Interview Administration............................................................. 106
Unanticipated Parental Involvement............................................................. 109
Discussion................................................................................................................. 112
Conclusions............................................................................................................... 118
References................................................................................................................. 120
Chapter 4. A Mixed Methods Analysis of Physical Health, Psychosocial Health, and Quality of Life in Individuals with 48,XXYY............................................................................. 129
Abstract..................................................................................................................... 130
Background.............................................................................................................. 131
Sex Chromosome Aneuploidies...................................................................... 132
48,XXYY......................................................................................................... 133
Depression, Anxiety, and Quality of Life....................................................... 135
Theoretical Framework................................................................................. 137
Methods..................................................................................................................... 138
Study Design.................................................................................................. 141
Quantitative Data Collection......................................................................... 143
Qualitative Data Collection........................................................................... 148
Triangulation and Integration of Data.......................................................... 154
Results....................................................................................................................... 155
Quantitative Data Analysis............................................................................ 155
Qualitative Data Analysis.............................................................................. 166
Discussion................................................................................................................. 193
Quantitative Self-Report Surveys................................................................... 194
Qualitative Interviews.................................................................................... 203
Triangulation of Quantitative and Qualitative Inferences............................. 216
Study Implications.......................................................................................... 224
Recommendations for Future Research......................................................... 226
Limitations..................................................................................................... 227
Conclusions............................................................................................................... 231
References................................................................................................................. 253
Chapter 5. Summary and Conclusions.............................................................................. 274
Summary and Conclusions..................................................................................... 275
Integrative Review................................................................................................... 278
Methodological Challenges..................................................................................... 282
Mixed Methods Study of Quality of Life in Individuals with 48,XXYY............ 291
Limitations................................................................................................................ 304
Strengths................................................................................................................... 306
Study Implications................................................................................................... 308
Recommendations for Future Research................................................................ 311
Summary................................................................................................................... 313
References................................................................................................................. 314
About this Dissertation
| School | |
|---|---|
| Department | |
| Degree | |
| Submission | |
| Language |
|
| Research Field | |
| Keyword | |
| Committee Chair / Thesis Advisor | |
| Committee Members |
Primary PDF
| Thumbnail | Title | Date Uploaded | Actions |
|---|---|---|---|
|
|
The Relationship of Physical Function and Psychosocial Health on Quality of Life in Individuals with 48,XXYY () | 2020-07-08 13:04:31 -0400 |
|
Supplemental Files
| Thumbnail | Title | Date Uploaded | Actions |
|---|