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
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
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DOI：
10.1097/01.gim.0000215177.28010.6e
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发表时间：
2006-04-01
影响因子：
8.8
通讯作者：
Winkelstein, JA
中科院分区：
文献类型：
--
作者：
James, CA;Hadley, DW;Winkelstein, JA
目的：虽然遗传条件的遗传方式长期以来一直被认为不仅对家庭有医学影响，而且对家庭有心理社会影响，但这种假设从未得到过验证。研究方法：我们调查了51个慢性肉芽肿病家族的112名成员（59%的应答），以确定遗传方式对父母、兄弟姐妹和患者的影响：（1）遗传和生殖风险的知识;（2）对未来家庭成员风险的担忧;（3）内疚和责备的感觉;（4）耻辱感。96名成员的51个家庭（49%的反应）与Duchenne/Becker肌营养不良症和脊髓性肌萎缩症II/III型也进行了研究。结果：X连锁家系对遗传（P < 0.001）和生育风险（P < 0.01）的认识较好。X染色体连锁的母亲更担心后代的风险;其他常染色体隐性遗传的家庭成员也同样担心。X染色体连锁的母亲更容易感到内疚（P < 0.01）和自责（P < 0.001）。X连锁父亲对母亲的责任感较强（P < 0.05），X连锁母亲对父亲的责任感较强（P < 0.01）。X连锁家系成员更容易认为自己是携带者（P < 0.05）。结论：在提供遗传咨询时，应注意X连锁家庭的内疚和责备，了解常染色体隐性遗传家庭的生殖风险。Genet Med 2006：8（4）：234-242.
Purpose: While 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. Methods: We 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. Results: X-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). Conclusion: When providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families. Genet Med 2006: 8(4):234-242.