NEUROFIBROMATOSIS TYPE-1 (NF1) - KNOWLEDGE, EXPERIENCE, AND REPRODUCTIVE DECISIONS OF AFFECTED PATIENTS AND FAMILIES
NEUROFIBROMATOSIS TYPE-1 (NF1) - KNOWLEDGE, EXPERIENCE, AND REPRODUCTIVE DECISIONS OF AFFECTED PATIENTS AND FAMILIES
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DOI：
10.1136/jmg.30.7.567
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发表时间：
1993-07-01
影响因子：
4
通讯作者：
KERZINSTORRAR, L
中科院分区：
文献类型：
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作者：
BENJAMIN, CM;COLLEY, A;KERZINSTORRAR, L
81名受试者（56例受影响的患者和25例孤立的受影响病例的父母），从63个家庭与神经纤维瘤病1型（NF 1）的西北地区遗传家族登记（NWRGFR）进行了采访。患者接受采访之前（n = 26）或之后（n = 55）遗传咨询。在该组作为一个整体，知识的临床特征和遗传方面的条件是穷人（平均得分7在0至18的范围内）。以下因素与更高的知识水平显著相关：（1）遗传咨询，（2）较高的社会阶层，（3）患有NF1的儿童，（4）当NF1影响生育决定时，（5）诊断时年龄较小，（6）患者支持小组的成员。大多数受影响的受试者认为自己受到的影响比医学分类更严重，与那些在生命后期被诊断出患有NF1的人，有一个患有NF1的孩子，或者那些担心疾病的美容方面的人认为自己受到更严重的影响。对NF1在生命不同阶段的心理社会影响的评估显示，63%的受影响受试者在学校遇到困难，48%的人说这种情况，特别是美容方面，在青春期引起焦虑（n 54）。这些困难可能导致了后来的职业成就和人际关系中的信心问题。77%的父母表示，他们的孩子在学校遇到了与NF1有关的困难（n = 51）。在有NF1风险的孩子和在有家庭之前知道NF1的受试者（n = 32）中，45%的人说这影响了他们的生育决定。在29名仍在考虑要孩子的受试者中，41%的受试者希望在未来怀孕时进行产前诊断，但只有3名受试者表示他们将终止受影响的妊娠。
Eighty-one subjects (56 affected patients and 25 parents of isolated affected cases) from 63 families with neurofibromatosis type 1 (NF1) on the North Western Regional Genetic Family Register (NWRGFR) were interviewed. Patients were interviewed either before (n = 26) or after (n = 55) genetic counselling. In the group as a whole, knowledge of the clinical features and the genetic aspects of the condition was poor (mean score 7 within the range of 0 to 18). The following factors were significantly associated with higher knowledge: (1) genetic counselling, (2) higher social class, (3) child with NF1, (4) when NF1 had influenced reproductive decisions, (5) young age at diagnosis, and (6) member of a patient support group.The majority of the affected subjects perceived themselves to be more severely affected than by medical classification, with persons who had been diagnosed later in life, had a child with NF1, or who were concerned about the cosmetic aspects of the disease perceiving themselves to be more severely affected.Assessment of the psychosocial effects of NF1 at different stages of life showed that 63% of affected subjects experienced difficulties at school and 48% said that the condition, particularly cosmetic aspects, caused anxiety during adolescence (n 54). These difficulties may have contributed to later problems with career attainment and confidence in relationships. Seventy-seven percent of parents stated that their child was experiencing difficulties at school relating to NF1 (n = 51).Of the subjects at risk of having a child with NF1 and who knew about NF1 before having their family (n = 32), 45% said that it had influenced their reproductive decisions. Of 29 subjects who were still considering children, 41%) wished to have prenatal diagnosis in a future pregnancy, but only three subjects stated that they would terminate an affected pregnancy.