Table 3.
Clinical scores and measurement tools recommended to collect in MLD patients
| Clinical scoring systems | Versions | Age groups (years) | Population (development and validation) | Used in MLD before |
|---|---|---|---|---|
| GMFC-MLD [27] | 1 version | 1.5–18, [>18] | MLD patients | Yes [7, 9–12, 31–40] |
| ELFC-MLD [28] | 1 version | 1.5–18, [>18] | MLD patients | Yes [10, 27, 28, 34] |
| EDACS [29] | 1 version | 2–21, [>21] | CP patients | Yes [40–42] |
| MACS [30] |
MACS Mini-MACS |
4–18, [>18] 1–4 |
CP patients | Yes, unpublished |
| Measurement tools | Versions | Age groups (years) | Population (development and validation) | Used in MLD before |
|---|---|---|---|---|
| IQ | Many different tools | > 2.5 | Non-specific populations | Yes, frequently* |
| MMSE [43] | 1 version | > 18 | Non-specific adult populations | Yes, unpublished |
| GMFM-88 [44] | GMFM-88 & GMFM-66 | 0.4–16, [> 16] | Non-specific pediatric populations | Yes [45–47] |
| SARA [48] | 1 version | [≥ 3], > 8 | Different SCA- and non-SCA populations with ataxia | Yes, unpublished |
| PROMs | Versions | Age groups (years) | Population (development and validation) | Used in MLD before |
|---|---|---|---|---|
| EQ5D/5L and EQ5D-Y [49–51] | Modes of administration (self-assessment, interviewer-administered, and proxy), age groups | 4–7, 8–15, > 15 | Non-specific populations | No |
| HUI3 [52] |
Modes of administration (self-assessment, interviewer- administered, and proxy) |
> 1 | Non-specific populations | No |
| PedsQL [53, 54] | Age groups | 2–4, 5–7, 8–12, 13–18 | Non-specific pediatric populations | Yes [55]** |
[between square brackets] = not validated. Underlined = core data element, italic = optional data element
*No references added because a lot of heterogeneity in used scales and sometimes only total IQ was reported without the used scale
**Only the PedsQL Family Impact Module is used
CP cerebral palsy, EDACS Eating- and Drinking Ability Classification System, ELFC-MLD Expressive Language Function Classification for MLD, EQ5D/5L EuroQoL5D/5L, EQ5D-Y EuroQoL5D-Youth, GMFC-MLD Gross Motor Function Classification for MLD, GMFM-88 Gross Motor Function Measure-88, HUI3 Health Utilities Index 3, IQ intelligence quotient, MACS Manual Ability Classification System, MLD metachromatic leukodystrophy, MMSE Minimal Mental State Examination, PedsQL Pediatric Quality of Life Inventory, PROMs Patient Reported Outcome Measures, SARA Scale for the Assessment and Rating of Ataxia, SCA spinocerebellar ataxia