ArticleJournal of genetic counseling2015
"How should I tell my child?" Disclosing the diagnosis of sex chromosome aneuploidies.
Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases.International journal of environmental research and public health · 2022Pooled it
- Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility.Journal of the Endocrine Society · 2025Article
- 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
- Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting.Journal of genetic counseling · 2025Article
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.BMC pediatrics · 2024Review
- Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.Journal of community genetics · 2024Article
- Article
- Whose responsibility is it to talk with children and young people about intersex/differences in sex development? Young people's, caregivers' and health professionals' perspectives.Frontiers in urology · 2023Article
- Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan.Scientific reports · 2022Article
- Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy.BMC pediatrics · 2022Article
- Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?Journal of community genetics · 2022Article
- Parents' perspectives, experiences, and need for support when communicating with their children about the psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS).Journal of community genetics · 2022Article
- Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome.Reproductive sciences (Thousand Oaks, Calif.) · 2020Article
- Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience.Journal of community genetics · 2020Article
- Article
- The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults.Journal of genetic counseling · 2017Article
- Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.American journal of medical genetics. Part A · 2016Article
- Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome.Advances in pediatrics · 2016Review
- Children with sex chromosome trisomies: parental disclosure of genetic status.European journal of human genetics : EJHG · 2016Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
To date, the disclosure of a sex chromosome aneuploidy (SCA) diagnosis to an affected individual has not been explored. This study aimed to assess the timing and content revealed to an affected child by his or her parent(s), resources accessed in preparation, parental feelings of preparedness, common parental concerns, and recommendations for disclosure approaches. Two online surveys were created: 1) for parents of a child with a diagnosis and 2) for individuals with a diagnosis. One-hundred thirty-nine parent surveys (XXY n = 68, XXX n = 21, XYY n = 9, other SCAs n = 41) and 67 individual surveys (XXY n = 58, XXX n = 9) were analyzed. Parents most frequently discussed the topics of learning disabilities (47 %) and genetics (45 %) with their child during the initial disclosure. A significantly greater proportion of parent respondents reported feeling prepared vs. unprepared for disclosure, regardless of their child's diagnosis (z-test of proportions, all p's < 0.001). Both prepared and unprepared parents most frequently accessed resources such as websites, support groups, and discussion with the child's physician prior to disclosure, with unprepared parents accessing fewer resources (M = 2.0 ± 1.41) than prepared parents [M = 2. ± 1.56; t(101) =-2.02, p < 0.05]. Common parental concerns included making the conversation age-appropriate, discussing infertility, and possible impact on the child's self-esteem. Both parent and individual respondents endorsed being honest with the child, disclosing the diagnosis early and before puberty, and discussing the diagnosis gradually over time. These results provide recommendations for parents, and suggest benefits from additional resources and supports to alleviate concerns when approaching diagnosis disclosure.
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