This study aimed to investigate the relationship of NOTCH3 variant positions, the causal genetic variant of CADASIL, with executive dysfunction measured at baseline as well as two years later at...Show moreThis study aimed to investigate the relationship of NOTCH3 variant positions, the causal genetic variant of CADASIL, with executive dysfunction measured at baseline as well as two years later at follow-up. This was done by comparing NOTCH3 variant positions in groups (risk categories) associated with a high (N = 104) or moderate (N = 76) risk of developing worse disease outcomes. It was expected that the high risk group would perform significantly worse and decline significantly more than the moderate risk group on neuropsychological tests measuring executive functioning. Executive dysfunction was assessed using the following neuropsychological tests: Trail Making Test, Stroop Color and Word Test, WAIS-R Digit Symbol Substitution Test and WAIS-IV Block Design Test. A Linear Mixed Model (Repeated Measurements) analysis was performed to answer the objectives with a total of 180 included participants. There was no significant difference in performance between the risk categories at baseline, nor in the decline in performance over the two-year follow-up span. In an exploratory follow-up analysis, we examined whether decline was present at all, regardless of risk category. This was only the case for one of four neuropsychological tests. In conclusion, future clinical trials are needed to provide better understanding of how NOTCH3 aggregation impacts executive dysfunction and its development thereof within CADASIL. Subsequently, this could allow for more accurate individualised disease progression predictions.Show less
Objectives. In the Netherlands, a significant part of the population consists of non-Western immigrants, such as people from Turkey, Morocco and Surinam. The number of these elderly, non-Western...Show moreObjectives. In the Netherlands, a significant part of the population consists of non-Western immigrants, such as people from Turkey, Morocco and Surinam. The number of these elderly, non-Western immigrants is expected to increase and they are now reaching an age at which cognitive deteriorations due to dementia might occur. Although many instruments are available for the diagnosis of dementia with native Dutch patients, research showed that there is a high rate of under- and misdiagnosis among ethnic minority patients. The diagnosis of dementia for this group can be considered as challenging, as there is a major lack of appropriate neuropsychological assessment methods for culturally different and low-educated or illiterate populations. Therefore, adapted neuropsychological test batteries were developed by neuropsychologists at Erasmus MC for non-Western immigrants, in order to assess dementia. The aim of this study was to examine the validity and to investigate the relation and importance of these adapted neuropsychological tests. . Methods. This study consisted of patients with cognitive decline (n = 29) and cognitively healthy controls (n = 23), with a non-Western immigration background. Patients were referred to the Alzheimer Centre of the Erasmus MC, whereas controls were recruited through social networks and were assessed by a neuropsychologist in training. The RUDAS, verbal fluency tests and literacy screening were used as screeners, after which a number of adapted neuropsychological tests, such as Clock Reading Test and Recall of Pictures Test were administered. Results. As expected, controls showed significantly better performance on most tests in the battery than patients. Against expectations, education level of the patients and controls appeared to be associated with performance on a large part of the battery. Education level was found to be highly associated with participants’ literacy. Tests measuring similar cognitive functions were found to be significantly related. . . Conclusion. This study indicates that various adapted test batteries form a foundation to discriminate dementia between non-Western immigrants with cognitive decline and cognitively intact non-Western immigrants, in the Netherlands on group level. Although these results should be interpreted with caution, as the samples were small and not homogeneous, this study has an important clinical relevance. Future research is needed to obtain more generalizable results.Show less