Shiwach R S, Norbury C G
Deal Mental Health Centre, Kent.
Br J Psychiatry. 1994 Oct;165(4):500-5. doi: 10.1192/bjp.165.4.500.
The study tested specific hypotheses that (a) there is an increased incidence of psychiatric disorders in asymptomatic heterozygotes for Huntington's disease (HD) compared with the normal homozygotes, and (b) there is an increased incidence of psychiatric disorders in the adult offspring of Huntington's disease patients compared with their partners.
A controlled study was made of 93 apparently healthy individuals (at 50% risk), who had given DNA samples for the predictive test, and 70 of their partners. Current and past psychopathology was assessed and compared with the DNA predictive test results based on linkage analyses. The results of psychiatric assessments of the two groups were compared.
DNA test results were available for 53 subjects (of 93). Five subjects at risk for HD were omitted from the study. The asymptomatic heterozygotes (n = 20) showed no significant increase in the incidence of any psychiatric episode, depression, schizophrenia or behavioural disorder when compared with the normal homozygotes (n = 33). The whole tested group showed a significantly greater number of psychiatric episodes than their partners (n = 43).
Asymptomatic HD gene carriers do not have a greater incidence of psychiatric disorders than the non-gene carriers born to a HD parent.
本研究检验了以下特定假设:(a)与正常纯合子相比,亨廷顿舞蹈症(HD)无症状杂合子中精神疾病的发病率更高;(b)与亨廷顿舞蹈症患者的配偶相比,其成年后代中精神疾病的发病率更高。
对93名显然健康的个体(患病风险为50%)及其70名配偶进行了对照研究,这些个体已提供DNA样本用于预测性检测。评估当前和过去的精神病理学状况,并将其与基于连锁分析的DNA预测性检测结果进行比较。比较了两组的精神评估结果。
93名受试者中有53名获得了DNA检测结果。5名有HD患病风险的受试者被排除在研究之外。与正常纯合子(n = 33)相比,无症状杂合子(n = 20)在任何精神疾病发作、抑郁症、精神分裂症或行为障碍的发病率上均未显示出显著增加。整个检测组的精神疾病发作次数明显多于其配偶(n = 43)。
无症状的HD基因携带者与HD患者生育的非基因携带者相比,精神疾病的发病率并无更高。