Development of a Patient-Reported Outcome Questionnaire to Evaluate Primary Mitochondrial Myopathy Symptoms: The Primary Mitochondrial Myopathy Symptom Assessment.

OBJECTIVES: Primary mitochondrial myopathy (PMM) is a genetic condition characterized by life-limiting symptoms such as muscle weakness, fatigue, and pain. Because these symptoms are best reported by individuals with PMM, the objective of this qualitative research study was to develop a PMM-specific patient-reported outcome (PRO) questionnaire. METHOD: Individuals with PMM were interviewed, identifying the most salient symptoms of PMM and assessing the resulting questionnaire's relevance and comprehensibility. RESULTS: Developed based on patient interviews, the 10-item Primary Mitochondrial Myopathy Symptom Assessment assesses patients' symptom experiences at their worst in the last 24 hours. Individuals with PMM confirmed the concepts of the questionnaire as relevant and comprehensive to their symptom experiences and responded to the items consistently with developers' intentions. CONCLUSIONS: The Primary Mitochondrial Myopathy Symptom Assessment is a content-valid PRO questionnaire with qualitative and quantitative support as a valuable tool to evaluate and monitor the day-to-day experience of PMM symptoms from the patient perspective.

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.

BACKGROUND: Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth. A greater number of individuals with BTHS are now surviving into adulthood due to advancements in diagnosis and disease management. Given these improvements in life expectancy, understanding the disease experience over time has become increasingly important to individuals with the condition, treatment developers, and regulatory agencies. A study was conducted to explore the experience of BTHS from the perspective of adult males at least 35 years of age with the condition via in-depth qualitative interviews. RESULTS: Findings showed that adults with BTHS experienced a variety of signs/symptoms with variable onset and severity throughout their lives, the most frequently reported being the symptoms of tiredness, muscle weakness, and a fast and/or irregular heart rate, and the sign of short stature in youth. These signs/symptoms negatively impacted individuals' emotional, physical, social, and role functioning. Tiredness and weakness impacted some individuals' physical functioning from an early age and into adulthood. These symptoms generally worsened over time, increasingly interfering with individuals' ability to fully participate in paid and unpaid labor and to partake in family and leisure activities. CONCLUSIONS: This research complements recent studies characterizing the potentially degenerative and progressive nature of BTHS and can encourage future research into the natural history and progression of BTHS in untreated individuals. Participants' interview responses revealed a range of symptoms and the potential for multiple impacts on individuals' physical, social, emotional, and role functioning as a result of BTHS symptoms, yet also revealed variability in severity of experience as well as the possibility of resilience and adaptation to the condition.

A Qualitative Study of What US Parents Say and Do When Their Young Children See Pornography.

OBJECTIVE: There is no empirical information about how parents react when they discover that their young children have seen pornography. To address this gap in the literature, the current study sought to improve our understanding of parental reactions to discovering that their children ages <12 years old have seen pornography using a mixed-methods approach. METHODS: A convenience sample of participants (N = 279) was recruited from the online survey service Mechanical Turk. Eligible participants completed an online survey comprising close-ended and open-ended questions about their reactions when their young children saw pornography. Qualitative data were analyzed using a content analysis approach. RESULTS: Parents had 5 main reactions when realizing that their children had viewed pornography: 1) angry, shaming, or punitive; 2) calm and factual; 3) ignoring, minimizing, or denying that it happened; 4) panic or fear; and 5) lying to the child about what the child viewed. Most parents reacted calmly, while a small percentage reported that they hit, scolded, or shamed their young children for seeing the pornography. Many reported not knowing what to say or do. CONCLUSIONS: Development and evaluation of parental scripts for developmentally appropriate parent-child (or pediatrician-child) communication about pornography could benefit the field.