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A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

ABSTRACT: Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.

SUBMITTER: Bourke E

PROVIDER: S-EPMC3865389 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Bourke Elyssia E Snow Pamela P Herlihy Amy A Amor David D Metcalfe Sylvia S

European journal of human genetics : EJHG 20130522 1

Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to exp ...[more]

PMID: 23695282

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Project description:OBJECTIVES:Examine the extent that parent gender is associated with supporting children's physical activity. DESIGN:Cross-sectional mixed-methods study. SETTING:47 primary schools located in Bristol (UK). PARTICIPANTS:944 children aged 8-9?years and one of their parents provided quantitative data; 51 parents (20 fathers) were interviewed. METHODS:Children wore an accelerometer, and mean minutes of moderate-to-vigorous physical activity (MVPA) per day, counts per minute (CPM) and achievement of national MVPA guidelines were derived. Parents reported who leads in supporting child activity during the week and weekend. Linear and logistic regression examined the association between gender of parent who supports child activity and child physical activity. For the semistructured telephone interviews, inductive and deductive content analyses were used to explore the role of gender in how parents support child activity. RESULTS:Parents appeared to have a stronger role in supporting boys to be more active, than girls, and the strongest associations were when they reported that both parents had equal roles in supporting their child. For example, compared with the reference of female/mother support, equal contribution from both parents during the week was associated with boys doing 5.9 (95% CI 1.2 to 10.6) more minutes of MVPA per day and more CPM when both parents support on weekday and weekends (55.1 (14.3 to 95.9) and 52.8 (1.8 to 103.7), respectively). Associations in girls were weaker and sometimes in the opposite direction, but there was no strong statistical evidence for gender interactions. Themes emerged from the qualitative data, specifically; parents proactively supporting physical activity equally, mothers supporting during the week, families getting together at weekends, families doing activities separately due to preferences and parents using activities to bond one-to-one with children. CONCLUSIONS:Mothers primarily support child activity during the week. Children, possibly more so boys, are more active if both parents share the supporting role.

Dataset Information

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Publications

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Similar Datasets

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