The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Turriff, Amy; Macnamara, Ellen; Levy, Howard P.; Biesecker, Barbara B.

doi:10.1007/s10897-016-0041-z

Cited by 38 publications

(48 citation statements)

References 39 publications

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“…The disclosure of KS diagnosis to these children can be challenging for their parents and physicians (Girardin and Van Vliet 2011;Dennis et al 2015). Few studies have focused on how to disclose a KS diagnosis to this group, and there is no consensus on guidelines for diagnosis disclosure (Stochholm et al 2006;Dennis et al 2015;Tremblay et al 2016;Turriff et al 2017). It has been suggested that healthcare professionals (HCPs) partner with parents to disclose KS diagnosis to their child (Tremblay et al 2016).…”

Section: Introductionmentioning

confidence: 99%

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

et al. 2019

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Little is known about disclosure of diagnosis to males with Klinefelter syndrome (KS) diagnosed before birth or during childhood, especially in Asian context. Insufficient preparation for disclosure communication could lead to the child's depression, anxiety, or disrupted self-esteem. This is an interventional and qualitative interview study with a brief self-reported survey. The study consists of three phases. In phase I, adults with KS were asked about their experiences and viewpoints toward KS disclosure and diagnosis through individual interviews. In phase II, unaffected adolescent males were given information about KS and then asked to give hypothetical answers to a questionnaire followed by a group interview, as if they had KS. In phase III, parents of children with KS were asked to complete a questionnaire followed by a group interview which included a discussion about their disclosure plans and their concerns. The parents were provided information obtained from adults with KS and unaffected adolescent males, and were then interviewed again as a group. We found that the most hurtful issues were discovering their infertility from KS and late disclosure. From the perspective of unaffected adolescent males, early disclosure in early or mid-teens in a neutral, supportive, and relaxed manner, along with information on benefits of hormonal treatment, the assurance of biological sex as "male," and avoidance of some sensitive words are strongly recommended, as a way to promote self-confidence and positive coping with the diagnosis. After intervention, the parents reported more confidence and less anxiety about disclosing the diagnosis to their children, and indicated that they would disclose KS at an earlier age. For unaffected adolescent males, though it is a hypothetical scenario and their reaction may differ from affected adolescents, unaffected adolescent males' viewpoints on how they might react are more or less representative of cultural changes for the new generation, especially in the Asian context. In addition, their viewpoints influenced parents' decision and genetic counseling plans for the diagnosis disclosure of KS to their children. We propose a preliminary guideline for KS diagnosis disclosure.

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Section: Introductionmentioning

confidence: 99%

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

et al. 2019

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“…It is well recognized that a prenatal diagnosis affects parental perception and expectations for their child. It is also understood that the type of medical professional providing the post‐result counseling, as well as the type of scientific literature presented, can significantly impact whether a termination takes place, and the parent's expectation as their child develops . This altered perception can be optimized if prenatal counseling is sensitive and comprehensive in providing current information on the neuropsychology, fertility, and neurodevelopmental progression associated with this disorder.…”

Section: Future Considerationsmentioning

confidence: 99%

“…57 Health care providers doing the counseling need to have a current understanding of the disorder as well as its longitudinal impact on quality of life. 57…”

Section: Limitations Of Noninvasive Prenatal Testingmentioning

confidence: 99%

“…Some studies in adult men postnatally diagnosed with 47, XXY have indicated increased morbidity, reduced quality of life, and increased psychosocial issues when compared to their peers, while others have found no significant differences in quality of life between prenatally and postnatally diagnosed males with 47, XXY. 57,58 Prenatal identification of 47, XXY eliminates the risk of diagnostic odyssey many families experience when subtle phenotypic differences present with no known cause. Noninvasive prenatal testing with cytogenetic confirmation provides parents a lifelong awareness and understanding of impacted endocrine, speech, behavioral and motor domains that may otherwise go unnoticed and unaddressed.…”

Section: Future Considerationsmentioning

confidence: 99%

“…It is also understood that the type of medical professional providing the post-result counseling, as well as the type of scientific literature presented, can significantly impact whether a termination takes place, and the parent's expectation as their child develops. 57 This altered perception can be optimized if prenatal counseling is sensitive and comprehensive in providing current information on the neuropsychology, fertility, and neurodevelopmental progression associated with this disorder. Rather than waiting to see if improvement is coming, families can be proactive and preventive by developing focused interventional strategies reflective of the vulnerabilities of 47, XXY, which could be longitudinally beneficial for minimizing the developing language-based learning disorders, graphomotor dysfunction, and social anxiety.…”

Section: Future Considerationsmentioning

confidence: 99%

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The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

Samango‐Sprouse

Keen²,

Sadeghin³

et al. 2017

Prenat Diagn

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Objective The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identification.Method A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques.Results As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase. Awareness of this disorder and appropriate genetic counseling is necessary.Conclusion X and Y chromosomal variations will be identified through this screening, and the benefits and limitations to this finding need to be thoughtfully considered.

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Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition

et al. 2022

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H owpeopleinterpretandrespondtoadiagnosisaftergenetic testing is key to tailoring genetic counseling to optimize patient outcomes. The increasing application of genome sequencing (GS) has been associated with the diagnosis of a genetic condition in a growing number of individuals, including adolescents. 1 Genetic counseling is recommended for those who are considering undergoing GS. 2 Genetic counseling is defined as "the process of helping people understand and adapt to the medical, psychological, and familial implications of the genetic contributions to disease. The process integrates: interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; education about inheritance,testing,management,prevention,resourcesandresearch;coun-seling to promote informed choices and adaptation to the risk or condition. "3(p77) Children and adolescents warrant special consideration regarding genetic testing to ensure that informed consent is obtained and the necessary subjective, surrogate decision-makers are involved. 4 Little is known about the needs of adolescents with a genetic condition with regard to their experience of clinical genetic services, including genetic counseling and GS. Adolescence is a critical period, during which the task of identity development (ie, establishing selfknowledge and independence, and acquiring a sense of belonging 5 ) occurs. 6 Aspects of gender, religion, ethnicity, nationality, culture, and class coalesce to inform a person's sense of social identity. 7 The IMPORTANCE The number of adolescents who are diagnosed with a genetic disorder is increasing as genome sequencing becomes the standard of clinical diagnostic testing. However, the experience of receiving a diagnosis of a genetic condition has not been extensively studied in adolescents.OBJECTIVE To identify how adolescents with a genetic condition engage with genetic or genomic counseling services as well as interpret, adapt to, and experience their diagnosis.EVIDENCE REVIEW A literature search of MEDLINE, Embase, CINAHL, and PsycINFO was undertaken. Articles (primary literature, knowledge syntheses, and gray literature) in English that investigated the experiences of adolescents between 10 and 19 years of age who received genetic or genomic counseling were included. Data were extracted from 45 eligible articles and analyzed descriptively. FINDINGS A total of 45 studies were included, most of which were quantitative in nature (21 of 45 [47%]) and conducted in the US (n = 13), followed by the UK (n = 8), Australia (n = 8), and Canada (n = 6). A total of 29 distinct monogenic disorders were investigated. Sample sizes ranged from 1 to 930, with a median of 23 participants, and the year of publication ranged from 1977 to 2019. Included studies addressed all aspects of genetic counseling, but a preponderance of articles assessed knowledge about genetic conditions (n = 17) and challenges of communication within families (n = 16). Fewer articles addressed the experiences of adolescents adapting to t...

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The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Cited by 38 publications

References 39 publications

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition

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