Lenhard W, Breitenbach E, Ebert H, Schindelhauer-Deutscher H J, Henn W
Institute of Special Education, University of Würzburg, 97074 Würzburg, Germany.
Am J Med Genet A. 2005 Mar 1;133A(2):170-5. doi: 10.1002/ajmg.a.30571.
Diagnostic and prognostic uncertainty is one of the major psychological stressors for patients in acute and chronic illness, as well as for parents of children with disabilities or chronic disease. Whereas the parents' feeling of uncertainty is undoubtedly very strong shortly after the birth of a child with disabilities, the long-term effects on the parents of having or not having a precise genetic diagnosis, in terms of emotional stress, remain unclear. In this study, mothers of non-disabled children are compared to mothers of children with Down syndrome, and to mothers of children with a diagnostically unassigned mental retardation with regard to the level of anxiety, feelings of guilt, and emotional burden. While the mothers of children with Down syndrome score comparably to the mothers of non-disabled children, the results show broad psychoemotional disadvantages for mothers of children with a mental retardation of unknown etiology. Consequently, the value of genetic diagnosis of infantile disabilities encompasses, beyond clinical considerations like therapy planning and assignment of the recurrence risk for siblings, significant and long-lasting emotional relief for the parents.
诊断和预后的不确定性是急性病和慢性病患者以及残疾儿童或慢性病患儿家长面临的主要心理压力源之一。毫无疑问，残疾儿童出生后不久，家长的不确定感会非常强烈，但就情绪压力而言，有无精确的基因诊断对家长的长期影响仍不明确。在本研究中，将非残疾儿童的母亲与唐氏综合征患儿的母亲以及诊断未明确的智力发育迟缓患儿的母亲在焦虑水平、内疚感和情感负担方面进行了比较。唐氏综合征患儿的母亲得分与非残疾儿童的母亲相当，但结果显示病因不明的智力发育迟缓患儿的母亲在心理情绪方面存在广泛的劣势。因此，除了治疗计划和为兄弟姐妹确定复发风险等临床考虑因素外，婴儿残疾的基因诊断对家长而言还具有显著且持久的情绪缓解作用。
