In-depth interviews and biofeedback in a mixed-methods study: How people with rare diseases experience sexuality

Technical Summary: In-depth Interviews and Biofeedback in a Mixed-Methods Study on Sexuality and Rare Diseases

Problem Statement
Sexuality is a fundamental dimension of human development and quality of life, yet it is frequently neglected in the context of rare diseases (RDs). While RDs are known to impact physical, psychological, and social well-being, scientific literature has historically addressed sexuality and RDs in a fragmented manner. This gap limits the development of holistic interventions for a population that already faces diagnostic odysseys, chronic pain, and social isolation. The study addresses the need to analyze the attitudes of people with rare diseases toward sexuality, examining the interrelationship between their lived experiences, self-reported attitudes, and physiological responses to the topic.

Methodology
The study employed a mixed-methods explanatory design with a small, purposive non-probabilistic sample of six participants (3 men, 3 women; mean age 38.33) diagnosed with rare diseases and affiliated with the State Reference Center for Rare Diseases in Burgos, Spain. Data collection utilized three distinct instruments to triangulate findings:

1. Quantitative Instrument: A questionnaire adapted from two validated scales: the Attitudes Toward Sexuality Scale (ATSS) and the Multidimensional Comfort Scale (MMCS1-S). This instrument measured attitudes toward sexuality (erotophilia/erotophobia), attitudes toward masturbation, and comfort levels in discussing sexual topics using a 5-point Likert scale.
2. Qualitative Instrument: An ad hoc semi-structured in-depth interview designed to explore subjective experiences, perceptions, needs, and barriers regarding sexuality. The interview script was developed based on literature review and the dimensions assessed in the quantitative phase.
3. Physiological Instrument: Biofeedback monitoring using the BIoGraph Infiniti device (v5.1) to record autonomic nervous system responses. The variables tracked included heart rate, respiratory rate, body temperature, and skin conductance to measure stress and emotional arousal during the interview.

Data analysis involved descriptive statistics and Student's t-tests for the quantitative data (using SPSS v25), deductive coding using OpenCode software (v4.03) for the qualitative data, and a descriptive review of physiological fluctuations correlated with specific interview questions.

Key Results
The study yielded divergent findings across the three methodological approaches, highlighting a complex relationship between stated attitudes and lived/physiological reality:

• Quantitative Findings: Participants reported generally positive attitudes toward sexuality (Mean = 4.61) and high levels of comfort discussing the topic (Mean = 4.38). No statistically significant gender differences were found in these self-reported attitudes (p = 0.55).
• Qualitative Findings: In contrast to the questionnaire results, interviews revealed that sexuality is often an "invisible" dimension in the lives of people with RDs. Participants reported:
  • Neglect by Professionals: A pervasive lack of attention from healthcare providers, with sexual needs often reduced solely to reproductive concerns (e.g., contraception, pregnancy prevention), particularly for women.
  • Barriers to Communication: Participants stated they had never discussed sexuality with a professional.
  • Impact of Disease: Physical limitations, chronic pain, fatigue, and the "diagnostic odyssey" often pushed sexuality to the background.
  • Social Stigma: Participants described feeling invisible to society, facing stereotypes that assume people with RDs do not have sexual needs or rights.
• Physiological Findings: Biofeedback data indicated a significant increase in physiological stress markers (skin conductance, heart rate, blood pressure, and temperature) when participants discussed sexuality, particularly when addressing unmet needs, lack of professional support, or feelings of invisibility. This physiological arousal contradicted the high comfort scores reported in the questionnaire.

Key Contributions

• Methodological Integration: The study demonstrates the value of combining quantitative, qualitative, and psychophysiological methods to study sensitive topics. It reveals that self-report instruments may not capture the full emotional and physiological impact of discussing sexuality in marginalized groups.
• Identification of Discrepancy: The research highlights a critical disconnect between the positive attitudes expressed in surveys and the physiological stress and qualitative narratives of neglect and invisibility experienced by participants.
• Gender-Specific Insights: While statistical gender differences were not significant in the survey, qualitative data revealed distinct experiences: women reported their sexuality being reduced to reproduction, while men reported sexuality being sidelined entirely due to survival priorities and lack of professional inquiry.

Significance and Claims
The paper claims that its primary significance lies in exposing the gap between the theoretical importance of sexuality and its practical neglect in the care of people with rare diseases. By integrating biofeedback, the study provides evidence that discussing sexuality generates physiological stress responses in this population, suggesting that the "comfort" reported in questionnaires may mask underlying anxiety or a lack of self-awareness regarding unmet needs.

The authors conclude that sexuality must be recognized as an indispensable part of quality of life for people with rare diseases. They argue that current healthcare and social services fail to address this dimension, leading to feelings of invisibility and reduced well-being. The study serves as a foundation for future interventions, emphasizing the need for:

• Increased training for healthcare professionals on affective-sexual education.
• Research specifically targeting the sexual health of people with RDs.
• Social awareness campaigns to destigmatize the sexuality of people with disabilities.

The authors maintain a modest tone regarding their findings, acknowledging that the small sample size and non-probabilistic sampling limit the generalizability of the results. They position the study as an initial exploration intended to justify the need for larger, more diverse studies and the development of specific instruments to assess the sexual experience of this population.