Leone M, Bottacchi E, D'Ambrosio R, Mittino D, Rosso M G, Brignolio F
U.O. di Neurologia e Neurofisiopatia, Ospedale Regionale, Aosta.
Minerva Med. 1992 Jul-Aug;83(7-8):421-6.
A postal questionnaire was sent to all patients affected by hereditary ataxias and hereditary spastic paraparesis resident in the province of Turin (Italy) to study their diagnostic process. A 61% response rate was obtained. The mean time interval between onset and diagnosis was 6 years (1 to 32 years). The percentage of late diagnoses dropped from 59% before 1959 to 19% after 1970, mostly because a reduction of the interval between symptom onset and the first contact with the general practitioner. The onset with dysarthria and ataxia led to earlier neurologic consultation, but the whole time requested for the diagnosis was not modified. A reduction of the time needed for the diagnostic process may be important to address the family to an early genetic counselling.
我们向居住在意大利都灵省的所有遗传性共济失调和遗传性痉挛性截瘫患者发送了一份邮政调查问卷,以研究他们的诊断过程。获得了61%的回复率。发病与诊断之间的平均时间间隔为6年(1至32年)。晚期诊断的比例从1959年之前的59%降至1970年之后的19%,主要是因为症状出现与首次联系全科医生之间的间隔缩短了。构音障碍和共济失调起病导致更早进行神经科会诊,但整个诊断所需时间并未改变。缩短诊断过程所需时间对于让患者家庭尽早接受遗传咨询可能很重要。