Background: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health-related quality of life (HRQoL) of individuals and families living with the condition. Methods:The objective of this qualitative study was to describe the HRQoL of children and adolescents with achondroplasia and their caregivers. Thirty-four caregivers and 12 adolescents from the United States and Spain participated in one of eight focus groups or completed an individual interview, which was audiorecorded and transcribed. Thematic analysis of qualitative data was performed to identify commonly occurring themes pertaining to HRQoL.Results: Caregivers and adolescents described challenges with physical functioning and medical complications due to achondroplasia. Key challenges included difficulties performing activities of daily living, issues of accessibility, bullying, or unwanted attention in public, and negative effects on self-esteem. Caregivers were concerned about accessing appropriate medical care for their child, and also reported experiencing financial, relational, and emotional challenges in their families. Achondroplasia also affected individuals and their families in positive ways, including increasing empathy, receiving positive attention, and feeling supported by the achondroplasia community.Conclusions: These findings underscore the importance of regular assessments of HRQoL and the provision of psychosocial support to affected children and families.
More than many other cities in America, older African Americans in Milwaukee, WI contend with negative environmental, socio-economic and health challenges in one of the most hyper-segregated cities in America. This research examines the role of spirituality and religion in their lives and the ways that spirituality and religious affiliation contribute to their quality of life. Over 500 elderly respondents aged 55-105 completed a questionnaire. The analysis found: (a) strong identification with religious institutions and high levels of attendance and participation in religious activities, (b) a substantial number felt support from fellow church members, and (c) strong reliance on spirituality and their sense of connection to God as sources of strength in coping with personal challenges. This study adds to the findings of other research done which stressed the importance of spirituality, religious practice and congregational assistance in serving critical survival functions for older African Americans. This is the first such research done, however, reporting on Milwaukee's African American older adults. This study used mixed methods of research, conducting both a descriptive statistical analysis of African American elderly in Milwaukee County to develop a profile while simultaneously gathering, where possible, qualitative data as well, in the form of narratives, written comments and field notes of first hand observations on this growing population.
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