Benjamin C M, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
J Med Genet. 1993 Jul;30(7):567-74. doi: 10.1136/jmg.30.7.567.
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.
对西北地区遗传家庭登记册（NWRGFR）上63个患有1型神经纤维瘤病（NF1）家庭的81名受试者（56名患病患者和25名单发患病病例的父母）进行了访谈。患者在遗传咨询之前（n = 26）或之后（n = 55）接受了访谈。在整个群体中，对该病临床特征和遗传方面的了解较差（平均得分7分，范围为0至18分）。以下因素与较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）NF1影响生育决策时，（5）诊断时年龄较小，以及（6）患者支持小组的成员。大多数患病受试者认为自己比医学分类所显示的受影响更严重，那些在生命后期被诊断出、有一个患有NF1的孩子或担心疾病外观方面的人认为自己受影响更严重。对NF1在生命不同阶段的心理社会影响的评估表明，63%的患病受试者在学校遇到困难，48%的人表示该病，特别是外观方面，在青春期引起焦虑（n = 54）。这些困难可能导致了后来在职业成就和人际关系信心方面的问题。77%的父母表示他们的孩子在学校因NF1遇到困难（n = 51）。在有生育患NF1孩子风险且在组建家庭前了解NF1的受试者中（n = 32），45%的人表示这影响了他们的生育决策。在29名仍在考虑生育的受试者中，41%的人希望在未来怀孕时进行产前诊断，但只有三名受试者表示他们会终止受影响的妊娠。
