eTable 5. Overview of recommendations for management of treatment in the 21 patients with a genetic diagnosis.
| Number of patients | |
| Change in management | 17 (81.0%) |
| Preventive measures: | 14 (66.7%) |
| − Initiation of specific preventive measures recommended (e.g., monitoring [EEG, cardiological, ophthalmological, orthopedic], avoidance of radiography) |
14 (66.7%) |
| − Initiation of specific preventive measures recommended (ophthalmological monitoring) |
1 (4.8%) |
| − Discontinuation of specific preventive measures recommended (cardiological monitoring) |
1 (4.8%) |
| Symptomatic measures: | 13 (61.9%) |
| − Initiation of specific symptomatic measures recommended (ergotherapy, speech therapy) |
2 (9.5%) |
| − Modification of specific symptomatic measures recommended (speech therapy, ergotherapy, physiotherapy) |
13 (61.9%) |
| Curative measures: | 3 (14.3%) |
| − Initiation of specific curative measures recommended (trihexyphenidyl, L-Dopa, inclusion in MLD study) |
3 (14.3%) |
| No change in management | 4 (19.0%) |
EEG, Electroencephalography; L-Dopa, L-3,4-dihydroxyphenylalanine;
MLD, metachromatic leukodystrophy