Functional outcome descriptives pre-HCT and at most recent follow-up in MLD and GLD patients
| Pre-HCT (n = 113) . | Most recent follow-up (median = 87 mo, range: 13-206; n = 63) . | ||||
|---|---|---|---|---|---|
| Patient characteristics . | n (%) . | Missing . | Patient characteristics . | n (%) . | Missing . |
| Enzyme levels | Enzyme levels | ||||
| MLD (arylsulfatase A) | 12 | MLD (arylsulfatase A) | 11 | ||
| Low | 54 (100) | Normal | 28 (93.3) | ||
| Normal | 0 (0) | ||||
| GLD (galactocerebrosidase) | 4 | GLD (galactocerebrosidase) | 3 | ||
| Low | 43 (100) | Normal | 18 (94.7) | ||
| Normal | 0 (0) | ||||
| Presymptomatic | 42 (39.6) | 7 | Presymptomatic | 10 (18.2) | 8 |
| Mental development | Mental development | ||||
| Cognitive | 40 | Cognitive | 25 | ||
| Very low | 16 (21.9) | Very low | 15 (39.5) | ||
| Low | 18 (24.7) | Low | 8 (21.0) | ||
| Average | 34 (46.6) | Average | 15 (39.5) | ||
| Above average | 5 (6.8) | ||||
| Motor | 39 | Motor | 52 | ||
| Very low | 16 (21.6) | Very low | 10 (90.9) | ||
| Low | 19 (25.7) | Low | 0 (0) | ||
| Average | 34 (45.9) | Average | 1 (9.1) | ||
| Above average | 5 (6.8) | Above average | 0 (0) | ||
| Seizures (present) | 8 (7.1) | 7 | Seizures (present) | 13 (23.6) | 8 |
| Neuropathy | 9 | Neuropathy | 9 | ||
| Absent | 36 (34.6) | Stable | 37 (68.5) | ||
| Mild | 28 (26.9) | Improved | 2 (3.7) | ||
| Severe | 40 (38.5) | Worsened | 15 (27.8) | ||
| Vision | 15 | Vision | 11 | ||
| Low | 10 (10.2) | Stable | 47 (90.4) | ||
| Blind | 2 (2.0) | Improved | 2 (3.8) | ||
| Normal | 86 (87.8) | Worsened | 3 (5.8) | ||
| Hearing | 14 | Hearing | 11 | ||
| Mildly affected | 6 (6.1) | Stable | 48 (92.3) | ||
| Severely affected | 2 (2.0) | Improved | 1 (1.9) | ||
| Normal | 91 (91.9) | Worsened | 3 (5.9) | ||
| School attendance* | 9 | School attendance* | 6 | ||
| Regular | 18 (47.4) | Regular | 11 (21.6) | ||
| Additional support | 14 (36.8) | Additional support | 36 (70.6) | ||
| No attendance | 6 (15.8) | No attendance | 4 (7.8) | ||
| School performance* | 15 | School performance* | 10 | ||
| Appropriate for age | 25 (75.8) | Appropriate for age | 15 (35.8) | ||
| Lower | 8 (24.2) | Lower | 27 (64.2) | ||
| Independence | 16 | Independence | 9 | ||
| Appropriate for age | 52 (53.6) | Appropriate for age | 15 (27.8) | ||
| Needs assistance | 45 (46.4) | Needs assistance | 39 (72.2) | ||
| Continence (incontinent) | 59 (65.6) | 23 | Continence (incontinent) | 21 (38.9) | 9 |
| Gallbladder disease† (present) | 9 (27.3) | 33 | Gallbladder disease† (present) | 3 (11.5) | 17 |
| Pre-HCT (n = 113) . | Most recent follow-up (median = 87 mo, range: 13-206; n = 63) . | ||||
|---|---|---|---|---|---|
| Patient characteristics . | n (%) . | Missing . | Patient characteristics . | n (%) . | Missing . |
| Enzyme levels | Enzyme levels | ||||
| MLD (arylsulfatase A) | 12 | MLD (arylsulfatase A) | 11 | ||
| Low | 54 (100) | Normal | 28 (93.3) | ||
| Normal | 0 (0) | ||||
| GLD (galactocerebrosidase) | 4 | GLD (galactocerebrosidase) | 3 | ||
| Low | 43 (100) | Normal | 18 (94.7) | ||
| Normal | 0 (0) | ||||
| Presymptomatic | 42 (39.6) | 7 | Presymptomatic | 10 (18.2) | 8 |
| Mental development | Mental development | ||||
| Cognitive | 40 | Cognitive | 25 | ||
| Very low | 16 (21.9) | Very low | 15 (39.5) | ||
| Low | 18 (24.7) | Low | 8 (21.0) | ||
| Average | 34 (46.6) | Average | 15 (39.5) | ||
| Above average | 5 (6.8) | ||||
| Motor | 39 | Motor | 52 | ||
| Very low | 16 (21.6) | Very low | 10 (90.9) | ||
| Low | 19 (25.7) | Low | 0 (0) | ||
| Average | 34 (45.9) | Average | 1 (9.1) | ||
| Above average | 5 (6.8) | Above average | 0 (0) | ||
| Seizures (present) | 8 (7.1) | 7 | Seizures (present) | 13 (23.6) | 8 |
| Neuropathy | 9 | Neuropathy | 9 | ||
| Absent | 36 (34.6) | Stable | 37 (68.5) | ||
| Mild | 28 (26.9) | Improved | 2 (3.7) | ||
| Severe | 40 (38.5) | Worsened | 15 (27.8) | ||
| Vision | 15 | Vision | 11 | ||
| Low | 10 (10.2) | Stable | 47 (90.4) | ||
| Blind | 2 (2.0) | Improved | 2 (3.8) | ||
| Normal | 86 (87.8) | Worsened | 3 (5.8) | ||
| Hearing | 14 | Hearing | 11 | ||
| Mildly affected | 6 (6.1) | Stable | 48 (92.3) | ||
| Severely affected | 2 (2.0) | Improved | 1 (1.9) | ||
| Normal | 91 (91.9) | Worsened | 3 (5.9) | ||
| School attendance* | 9 | School attendance* | 6 | ||
| Regular | 18 (47.4) | Regular | 11 (21.6) | ||
| Additional support | 14 (36.8) | Additional support | 36 (70.6) | ||
| No attendance | 6 (15.8) | No attendance | 4 (7.8) | ||
| School performance* | 15 | School performance* | 10 | ||
| Appropriate for age | 25 (75.8) | Appropriate for age | 15 (35.8) | ||
| Lower | 8 (24.2) | Lower | 27 (64.2) | ||
| Independence | 16 | Independence | 9 | ||
| Appropriate for age | 52 (53.6) | Appropriate for age | 15 (27.8) | ||
| Needs assistance | 45 (46.4) | Needs assistance | 39 (72.2) | ||
| Continence (incontinent) | 59 (65.6) | 23 | Continence (incontinent) | 21 (38.9) | 9 |
| Gallbladder disease† (present) | 9 (27.3) | 33 | Gallbladder disease† (present) | 3 (11.5) | 17 |