Table 1.
Overview of studies on cognition in Fabry disease
| Authors | N | Age (years) | Sex | Tests performed | Type of analysis | Stroke (n) | Impaired cognitive domains | Limitations |
|---|---|---|---|---|---|---|---|---|
| Low et al. (2007) | 21 P, 46 C | Mean 40.2 Range 20–62 |
2 F 19 M |
MMSE, NUCOG | Group comparisons healthy vs. patient | 9/14, MRI in 14/21 P | Language | Too broad and too few N-tests. No measure of premorbid or present intellectual functioning. Depression not examined |
| Segal et al. (2010) | 16P | Mean 29 Range N/A |
9 F 7 M |
Comprehensive N-battery | N-test results were compared to age-based norms | 1 | Psychomotor speed, attention and executive functions | No measure of premorbid or present intellectual functioning. Children and adults grouped in analysis |
| Schermuly et al. (2011) | 25 P, 20 C | Mean 36.5 Range 21–56 |
15 F 10 M |
RAVLT, WMS-R, TAP, TMT, Part A + B, and WCST | Group comparisons healthy vs. patient | 5 | Attention and executive functioning (became non-significant after controlling for depression severity) | No measure of premorbid intellectual functioning |
| Elstein et al. (2012) | 6P | Mean 41.3 Range 25–63 |
4 F 2 M |
Mindstream’s computerised cognitive battery for mild impairment | The results were compared to Norms from Mindstream’s program | 2 | Psychomotor speed | The results are not controlled for depression |
| Sigmundsdottir et al. (2014) | 17 P, 15 C | Mean 46.6 Range 25–60 |
5 F 12 M |
Comprehensive N-battery | Group comparisons healthy vs. patient | 4 | Psychomotor speed and executive functions (only males) | |
| Wadley et al. (2015) | 54, 216 C | Mean 55.7 Range 46–72 |
37 F 17 M |
NINDS-CSN, CERAD | Group comparisons healthy vs. patient | 6 | No significant difference between patient and control group. No significant gender difference | The results are not controlled for depression. Neuropsychological assessment was made by telephone. Disease severity not stated |
| Lelieveld et al. (2015) | 25 P | Mean 37.9 Range N/A |
15 F 10 M |
MMSE, AVLT, WMS-R, TMT part A + B | Comparisons between baseline and 8-year follow-up | N/A | N/A | No measure of prevalence of cognitive deficits. No control group |
| Current study | 41 P, 80 C | Mean 47.2 Range 20–75 |
29 F 12 M |
Comprehensive N-battery | Observed scores compared to regression based reference data | 7 | Psychomotor speed, attention and executive functions | Fixed categorisation of tests in cognitive domains |
P patients, C controls, F Female, M male