title: 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.
authors.affiliation: 1] Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [2] School of Psychology and Psychiatry, Monash University, Bendigo, Victoria, Australia.
authors.forename: Elyssia
authors.initials: E
authors.lastname: Bourke
authors.affiliation: School of Psychology and Psychiatry, Monash University, Bendigo, Victoria, Australia.
authors.forename: Pamela
authors.initials: P
authors.lastname: Snow
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
authors.forename: Amy
authors.initials: A
authors.lastname: Herlihy
authors.affiliation: 1] Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [2] Victorian Clinical Genetics Service, Melbourne, Victoria, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Amor
authors.affiliation: 1] Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Metcalfe
mesh_terms: D002648:Child; D005220:Fathers / Q000523:psychology*; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000523:psychology*; D009035:Mothers / Q000523:psychology*