Li G, Aryan M, Silverman J M, Haroutunian V, Perl D P, Birstein S, Lantz M, Marin D B, Mohs R C, Davis K L
Department of Psychiatry, University of Washington, Seattle, USA.
Arch Neurol. 1997 May;54(5):634-40. doi: 10.1001/archneur.1997.00550170104021.
To examine the validity of the family history method for identifying Alzheimer disease (AD) by comparing family history and neuropathological diagnoses.
Seventy-seven former residents of the Jewish Home and Hospital for the Aged, New York, NY, with neuropathological evaluations on record were blindly assessed for the presence of dementia and, if present, the type of dementia through family informants by telephone interviews. The Alzheimer's Disease Risk Questionnaire was used to collect demographic information and screen for possible dementia. If dementia was suspected, the Dementia Questionnaire was administered to assess the course and type of dementia, i.e., primary progressive dementia (PPD, likely AD), multiple infarct dementia, mixed dementia (i.e., PPD and multiple infarct dementia), and other dementias based on the modified Diagnostic and Statistical Manual of Mental Disorders, Third Edition, criteria.
Sixty (77.9%) of 77 elderly subjects were classified as having dementia and 17 (22.1%) were without dementia by family history evaluation. Of the 60 elderly subjects with dementia, 57 (95%) were found at autopsy to have had neuropathological changes related to dementia. The sensitivity of the family history diagnosis for dementia with related neuropathological change was 0.84 (57 of 68) and the specificity was 0.67 (6 of 9). Using family history information to differentiate the type of dementia, the sensitivity for definite or probable AD (with or without another condition) was 0.69 (36 of 51) and the specificity was 0.73 (19 of 26). The majority (9 of 15) of patients testing false negative for PPD had a history of stroke associated with onset of memory changes, excluding a diagnosis of PPD.
Identifying dementia, in general, and AD, in particular, has an acceptable sensitivity and specificity. As is true for direct clinical diagnosis, the major issue associated with misclassifying AD in a family history assessment is the masking effects of a coexisting non-AD dementia or dementia-related disorders, such as stroke. Including mixed cases, ie, PPD and multiple infarct dementia in estimates of the familial risk for AD can reduce the extent of underestimation of PPD.
通过比较家族史与神经病理学诊断结果，检验家族史法用于识别阿尔茨海默病（AD）的有效性。
对纽约市犹太老年之家和医院的77名有神经病理学评估记录的前居民进行盲法评估，通过电话访谈向家属了解是否存在痴呆症，若存在痴呆症，则了解痴呆症的类型。使用阿尔茨海默病风险问卷收集人口统计学信息并筛查可能的痴呆症。若怀疑患有痴呆症，则使用痴呆症问卷评估痴呆症的病程和类型，即原发性进行性痴呆（PPD，可能为AD）、多发性梗死性痴呆、混合性痴呆（即PPD和多发性梗死性痴呆）以及根据《精神疾病诊断与统计手册（第三版）》修订标准诊断的其他痴呆症。
通过家族史评估，77名老年受试者中有60名（77.9%）被归类为患有痴呆症，17名（22.1%）无痴呆症。在60名患有痴呆症的老年受试者中，尸检发现57名（95%）有与痴呆症相关的神经病理学改变。家族史诊断痴呆症伴相关神经病理学改变的敏感性为0.84（68例中的57例），特异性为0.67（9例中的6例）。利用家族史信息区分痴呆症类型，确诊或疑似AD（无论是否伴有其他病症）的敏感性为0.69（51例中的36例），特异性为0.73（26例中的19例）。PPD检测为假阴性的大多数患者（15例中的9例）有与记忆改变发作相关的中风病史，排除PPD诊断。
总体而言，识别痴呆症，尤其是AD，具有可接受的敏感性和特异性。与直接临床诊断一样，家族史评估中AD误诊的主要问题是并存的非AD痴呆症或与痴呆症相关的疾病（如中风）的掩盖效应。在AD家族风险评估中纳入混合病例，即PPD和多发性梗死性痴呆，可以减少对PPD低估的程度。
