Functional outcome descriptives pre-HCT and at most recent follow-up in X-ALD patients
| Pre-HCT (n = 56) . | Most recent follow-up (median = 49 mo, range: 25-211; n = 35) . | ||||
|---|---|---|---|---|---|
| Patient characteristics . | n (%) . | Missing . | Patient characteristics . | n (%) . | Missing . |
| Enzyme levels | Enzyme levels | ||||
| X-ALD (free fatty) | 17 | X-ALD (free fatty) | 18 | ||
| Normal | 0 (0) | Normal | 1 (5.9) | ||
| High/elevated | 39 (100) | High/elevated | 16 (94.1) | ||
| Presymptomatic | 16 (32.7) | 7 | Presymptomatic | 15 (51.7) | 6 |
| Mental development | Mental development | ||||
| Cognitive | 18 | Cognitive | 22 | ||
| Very low | 0 (0) | Very low | 1 (7.7) | ||
| Low | 10 (26.3) | Low | 2 (15.4) | ||
| Average | 22 (57.9) | Average | 7 (53.8) | ||
| Above average | 6 (15.8) | Above average | 3 (23.1) | ||
| Motor | 19 | Motor | 27 | ||
| Very low | 0 (0) | Very low | 5 (62.5) | ||
| Low | 10 (27.0) | Low | 1 (12.5) | ||
| Average | 21 (56.8) | Average | 1 (12.5) | ||
| Above average | 6 (16.2) | Above average | 1 (12.5) | ||
| Seizures (present) | 5 (10.2) | 7 | Seizures (present) | 5 (17.9) | 7 |
| Neuropathy | 9 | Neuropathy | 8 | ||
| Absent | 31(66.0) | Stable | 23 (85.2) | ||
| Mild | 14 (29.8) | Improved | 1 (3.7) | ||
| Severe | 2 (4.2) | Worsened | 3 (11.1) | ||
| Vision | 7 | Vision | 5 | ||
| Low | 12 (24.5) | Stable | 23 (76.7) | ||
| Blind | 2 (4.1) | Improved | 1 (3.3) | ||
| Normal | 35 (71.4) | Worsened | 6 (20.0) | ||
| Hearing | 8 | Hearing | 5 | ||
| Mildly affected | 5 (10.4) | Stable | 27 (90.0) | ||
| Severely affected | 2 (4.2) | Improved | 1 (3.3) | ||
| Normal | 41 (85.4) | Worsened | 2 (6.7) | ||
| School attendance* | 5 | School attendance* | 6 | ||
| Regular | 35 (79.5) | Regular | 15 (53.6) | ||
| Additional support | 7 (15.9) | Additional support | 9 (32.1) | ||
| No attendance | 2 (4.6) | No attendance | 4 (14.3) | ||
| School performance* | 6 | School performance* | 6 | ||
| Appropriate for age | 33 (82.5) | Appropriate for age | 17 (73.9) | ||
| Lower | 7 (17.5) | Lower | 6 (26.1) | ||
| Independence | 14 | Independence | 10 | ||
| Appropriate for age | 31 (73.8) | Appropriate for age | 16 (64.0) | ||
| Needs assistance | 11 (26.2) | Needs assistance | 9 (36.0) | ||
| Continence (incontinent) | 4 (10.0) | 16 | Continence (incontinent) | 3 (12.5) | 11 |
| Adrenal insufficiency | 32 | Adrenal insufficiency | 8 | ||
| Absent | 4 (16.6) | Stable | 25 (92.6) | ||
| Glucocorticoids | 18 (75) | Worsened | 2 (7.4) | ||
| Mineralcorticoids | 1 (4.2) | ||||
| Combined | 1 (4.2) | ||||
| Pre-HCT (n = 56) . | Most recent follow-up (median = 49 mo, range: 25-211; n = 35) . | ||||
|---|---|---|---|---|---|
| Patient characteristics . | n (%) . | Missing . | Patient characteristics . | n (%) . | Missing . |
| Enzyme levels | Enzyme levels | ||||
| X-ALD (free fatty) | 17 | X-ALD (free fatty) | 18 | ||
| Normal | 0 (0) | Normal | 1 (5.9) | ||
| High/elevated | 39 (100) | High/elevated | 16 (94.1) | ||
| Presymptomatic | 16 (32.7) | 7 | Presymptomatic | 15 (51.7) | 6 |
| Mental development | Mental development | ||||
| Cognitive | 18 | Cognitive | 22 | ||
| Very low | 0 (0) | Very low | 1 (7.7) | ||
| Low | 10 (26.3) | Low | 2 (15.4) | ||
| Average | 22 (57.9) | Average | 7 (53.8) | ||
| Above average | 6 (15.8) | Above average | 3 (23.1) | ||
| Motor | 19 | Motor | 27 | ||
| Very low | 0 (0) | Very low | 5 (62.5) | ||
| Low | 10 (27.0) | Low | 1 (12.5) | ||
| Average | 21 (56.8) | Average | 1 (12.5) | ||
| Above average | 6 (16.2) | Above average | 1 (12.5) | ||
| Seizures (present) | 5 (10.2) | 7 | Seizures (present) | 5 (17.9) | 7 |
| Neuropathy | 9 | Neuropathy | 8 | ||
| Absent | 31(66.0) | Stable | 23 (85.2) | ||
| Mild | 14 (29.8) | Improved | 1 (3.7) | ||
| Severe | 2 (4.2) | Worsened | 3 (11.1) | ||
| Vision | 7 | Vision | 5 | ||
| Low | 12 (24.5) | Stable | 23 (76.7) | ||
| Blind | 2 (4.1) | Improved | 1 (3.3) | ||
| Normal | 35 (71.4) | Worsened | 6 (20.0) | ||
| Hearing | 8 | Hearing | 5 | ||
| Mildly affected | 5 (10.4) | Stable | 27 (90.0) | ||
| Severely affected | 2 (4.2) | Improved | 1 (3.3) | ||
| Normal | 41 (85.4) | Worsened | 2 (6.7) | ||
| School attendance* | 5 | School attendance* | 6 | ||
| Regular | 35 (79.5) | Regular | 15 (53.6) | ||
| Additional support | 7 (15.9) | Additional support | 9 (32.1) | ||
| No attendance | 2 (4.6) | No attendance | 4 (14.3) | ||
| School performance* | 6 | School performance* | 6 | ||
| Appropriate for age | 33 (82.5) | Appropriate for age | 17 (73.9) | ||
| Lower | 7 (17.5) | Lower | 6 (26.1) | ||
| Independence | 14 | Independence | 10 | ||
| Appropriate for age | 31 (73.8) | Appropriate for age | 16 (64.0) | ||
| Needs assistance | 11 (26.2) | Needs assistance | 9 (36.0) | ||
| Continence (incontinent) | 4 (10.0) | 16 | Continence (incontinent) | 3 (12.5) | 11 |
| Adrenal insufficiency | 32 | Adrenal insufficiency | 8 | ||
| Absent | 4 (16.6) | Stable | 25 (92.6) | ||
| Glucocorticoids | 18 (75) | Worsened | 2 (7.4) | ||
| Mineralcorticoids | 1 (4.2) | ||||
| Combined | 1 (4.2) | ||||
Only for pediatric patients.