Abstract
Fragile X Syndrome (FXS) is the most common x-linked monogenic cause of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Taking care of children with ID is challenging and overwhelming due to the multiple facets of caregiving. This scoping review aimed at summarizing the qualitative literature on the experiences of families living with FXS, identify key themes and determine the gaps in the extant literature. We conducted a literature search in May 2019 using four databases; PubMed, Web of Science, African-Wide-Information, and Scopus. The keywords used in our search strategy were associated with caregivers, lived experiences, FXS, and qualitative research. All English language articles with full-text reporting were included. Studies associated with other neurodevelopmental conditions and quantitative studies were excluded. We identified 12 out of 203 articles that described the lived experiences of families with FXS. Most articles originated from the United States of America and mothers were the main caregivers. We summarized our findings into four major themes which are; grief experiences, challenges of living with FXS, coping mechanisms and the need to plan for future outcomes. This scoping review highlights the scarcity of qualitative FXS literature in the African population and frustrations endured by families with FXS due to the low knowledge of FXS by healthcare workers. More research is needed to evaluate the impact of living with FXS in males and fathers.
Highlights
Fragile X syndrome (FXS) is the most common inherited single-gene condition that causes a range of developmental problems, including learning disabilities and cognitive impairment and affects about twice as many males as females (1)
To guide the search strategy and ensure that a broad range of literature was captured, we asked “what are the lived experiences of people living with Fragile X Syndrome (FXS)?” This question helped us capture the challenges, frustrations, and coping mechanisms that entail living with FXS
The included studies were from English literature and captured the lived experiences of people directly involved in or affected by FXS
Summary
Fragile X syndrome (FXS) is the most common inherited single-gene condition that causes a range of developmental problems, including learning disabilities and cognitive impairment and affects about twice as many males as females (1). In Europe, America, Asia and Australia where molecular diagnostic procedures are well-developed, neonatal units for early screening for genetic diseases like FXS are fully functional and FXS is usually diagnosed early. This could account for the perceived high prevalence in these regions (4, 5). An alteration in the behavior and sleep patterns of FXS children may account for the maladaptation of parents (12, 13) This scoping review will map the available evidence of the experiences of families, caregivers and patients living with FXS. We aim at summarizing current lived experiences of FXS caregivers, synthesize key findings, and highlight gaps and limitations in the extant literature
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