McConkie-Rosell A, Spiridigliozzi G A, Rounds K, Dawson D V, Sullivan J A, Burgess D, Lachiewicz A M
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Am J Med Genet. 1999 Jan 29;82(3):206-11.
Sixty-five parents of individuals affected by fragile X syndrome who attended the National Fragile X Conference in Portland, Oregon (1996), were asked to complete a survey assessing parental level of concern about carrier testing in children at risk for fragile X syndrome. All subjects completed a 15-item paper and pencil Likert response scale measure that was developed specifically for this study. The items included parental rights and duties, psychological adjustment, adaptation, discrimination, harm, childbearing, and interpersonal relationships. The major concern of the parents was that their children have knowledge of their carrier status prior to becoming sexually active and that their children be able to marry informed of their genetic risk. Mothers were significantly more concerned than fathers about raising their children with the knowledge of their carrier status. A sense of parental right to make the decision regarding carrier testing for children was associated with concerns about (1) behavioral or educational problems, (2) knowledge of carrier status prior to sexual activity or marriage, and (3) adjustment of the children to knowledge of their carrier status. As the sample was drawn from a unique population of parents, the results of this survey should be interpreted with caution. The findings of this study suggest a model of parents providing anticipatory guidance for their children to help them adjust to carrier information and for their children to have this knowledge prior to the possibility of reproduction.
1996年，65位患有脆性X综合征患者的家长参加了在俄勒冈州波特兰市举办的全国脆性X综合征会议，他们被要求完成一项调查，以评估家长对脆性X综合征高危儿童携带者检测的关注程度。所有受试者都完成了一份专门为本研究设计的15项纸笔式李克特量表测量。这些项目包括父母的权利和义务、心理调适、适应、歧视、伤害、生育和人际关系。家长们主要关心的是他们的孩子在开始性活动之前了解自己的携带者身份，以及他们的孩子在知晓遗传风险的情况下能够结婚。与父亲相比，母亲们更担心在孩子知晓自己携带者身份的情况下抚养他们。父母有权决定对孩子进行携带者检测，这与对以下方面的担忧有关：（1）行为或教育问题；（2）在性活动或结婚之前知晓携带者身份；（3）孩子对自己携带者身份的适应情况。由于样本来自特定的家长群体，本调查结果应谨慎解读。本研究结果表明，家长应为孩子提供预期指导，帮助他们适应携带者信息，并在可能生育之前让孩子了解这些信息。
