ArticleJournal of genetic counseling2018
The Process of Disclosure: Mothers' Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- "To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1.Orphanet journal of rare diseases · 2025Article
- The dilemma of X-linked agammaglobulinemia carriers.The journal of allergy and clinical immunology. Global · 2025Article
- Family Communication of Genetic Risk: What is it and Why does it Matter?Acta medica Philippina · 2025Article
- Quality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.Orphanet journal of rare diseases · 2024Article
- Communicating the diagnosis of spinal muscular atrophy in endogamous vs. non-endogamous regions.BMC neurology · 2024Article
- Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.Journal of community genetics · 2024Article
- Article
- Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy.BMC pediatrics · 2022Article
- Not just carriers: experiences of X-linked female heterozygotes.Journal of assisted reproduction and genetics · 2021Article
- Article
- An Integrative Review Exploring Psycho-Social Impacts and Therapeutic Interventions for Parent Caregivers of Young People Living with Duchenne's Muscular Dystrophy.Children (Basel, Switzerland) · 2021Review
- A family systems approach to genetic counseling: Development of narrative interventions.Journal of genetic counseling · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters. The four key themes that arose are presented: communication process, facilitators of disclosure, barriers to disclosure and support and information. Despite the participants' endeavours to be open and honest with their daughters and their belief that they had fully disclosed, key information was often withheld. Major barriers to discussion of the future, including reproductive options, were apparent. These were partly overcome by the involvement of genetic counsellors (GCs). The participants suggested a greater involvement of GCs, proactively sending appointments and written information, and offering carrier testing more flexibly.
Indexed as
Identifiers
What OpenQuestion holds
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.