ArticleGenetics in medicine : official journal of the American College of Medical Genetics2006
How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 147 citations in OpenAlex.
- Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.Journal of clinical immunology · 2016Pooled it
- Mothers' guilt responses to children's obesity risk feedback.Journal of health psychology · 2015Trial
- Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong.International journal of neonatal screening · 2026Article
- Living with adrenoleukodystrophy: adult patient and caregiver perspectives.Orphanet journal of rare diseases · 2026Article
- "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
- Validation of the Zarit burden interview for Polish caregivers of individuals with rare diseases: a multidimensional approach to assessing caregiver burden.BMC psychology · 2025Article
- Reproductive decision-making for Barth syndrome carriers: Unexplored complexities.Journal of genetic counseling · 2025Article
- Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.Scientific reports · 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
- Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.Neurology. Genetics · 2024Review
- How shared versus unshared parental contribution to child risk influences guilt responses.Journal of health psychology · 2024Article
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Exploring Female Relatives of Patients with Hemophilia' Awareness, Attitudes, and Understanding Towards Genetic Testing.Journal of multidisciplinary healthcare · 2024Article
- Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.Frontiers in genetics · 2024Article
- Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana.Journal of community genetics · 2023Article
- Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.JIMD reports · 2023Article
- Creating a postmortem examination decision aid: Suggestions from bereaved parents of a stillborn.Patient education and counseling · 2023Article
- Intrapersonal and Interpersonal Disengagement Coping: Associations with Emotions of Youth At-Risk for Huntington's Disease.Journal of Huntington's disease · 2023Article
- Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats.Orphanet journal of rare diseases · 2022Article
- "Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
purposeWhile the mode of inheritance of a genetic condition has long been considered to have not only medical, but also psychosocial consequences for families, this supposition has never been tested.
methodsWe surveyed 112 members of 51 families (59% response) with chronic granulomatous disease to determine the influence of mode of inheritance on parents', siblings', and patients' (1) knowledge of inheritance and reproductive risk; (2) concern about risk to future family-members; (3) feelings of guilt and blame; and (4) feelings of stigmatization. Ninety-six members of 51 families (49% response) with Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were also studied.
resultsX-linked families had better understanding of inheritance (P < 0.001) and reproductive risks (P < 0.01). X-linked mothers worried more about risks to future generations; other autosomal-recessive family members were as worried. X-linked mothers were more likely to feel guilty (P < 0.01) and blame themselves (P < 0.001). X-linked fathers blamed their child's mother (P < 0.05) and X-linked mothers felt more blamed by the father (P < 0.01). X-linked family-members were more likely to consider being a carrier stigmatizing (P < 0.05).
conclusionWhen providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive 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.