ArticleEuropean journal of human genetics : EJHG2014
A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Making grandchildren. Is there an interest in becoming a grandparent?Medicine, health care, and philosophy · 2026Article
- Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support.Journal of genetic counseling · 2025Article
- Exploring preferences and support needs for disclosing 47, XXY status: A qualitative study of adults with XXY.Journal of genetic counseling · 2025Article
- Qualitative Exploration of Health Care Professionals' Experiences Caring for Young People With Acute Severe Behavioral Disturbance in the Acute Care Setting.Journal of the American College of Emergency Physicians open · 2025Article
- Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient's life.Journal of endocrinological investigation · 2024Observational
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.BMC pediatrics · 2024Review
- Cognition, Academic Achievement, Adaptive Behavior, and Quality of Life in Child and Adolescent Boys with Klinefelter Syndrome.Journal of developmental and behavioral pediatrics : JDBP · 2023Article
- Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?Journal of community genetics · 2022Article
- Cortical gray matter structure in boys with Klinefelter syndrome.Psychiatry research. Neuroimaging · 2021Article
- Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature.Frontiers in endocrinology · 2019Article
- The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults.Journal of genetic counseling · 2017Article
- Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.European journal of pediatrics · 2016Article
- A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.European journal of human genetics : EJHG · 2015Article
- Preserving children's fertility: two tales about children's right to an open future and the margins of parental obligations.Medicine, health care, and philosophy · 2015Article
- Pakistani mothers' and fathers' experiences and understandings of the diagnosis of Down syndrome for their child.Journal of community genetics · 2015Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.