Table 2.
The clinical phenotype comparison between different clinical subgroup
| Connatal group (n = 28) | Transitional group (n = 56) | Classic group (n = 27) | p value | |
|---|---|---|---|---|
| Disease onset | ||||
| Nystagmus, n (%) | 28 (100) | 56(100) | 26(96.3) | 0.208 |
| Onset age (range) | 0.85 m (0, 12) | 1 (0, 24) | 2 m (0, 16)b | 0.016* |
| Hypotonia, n (%) | 18 (64.3)a | 50 (89.3) | 25 (92.6)b | 0.005* |
| Onset age (range) | 6.5 m (2. 18) | 8 m (3, 26) | 7 m (2, 18) | 0.381 |
| Disease progression | ||||
| Nystagmus decrease | 13 (46.4) | 32 (57.1) | 19 (73.1) | 0.136 |
| Decrease age (range) | 12 m (4, 96) | 26 m (8, 79) | 24 m (7, 260) | 0.291 |
| Stridor | 15 (53.6)a | 15 (26.8) | 5 (18.5)b | 0.011* |
| Motor milestone | ||||
| Head control, n (%) | 12 (42.9) | 48 (85.7) | 27 (100) | < 0.001* |
| Acquire age (range) | 11 m (4, 71) | 10 (3, 60)c | 5 (3, 18)b | < 0.001* |
| Sit, n (%) | 4 (14.3) | 14 (25)c | 26 (88.9)b | < 0.001* |
| Acquire age (range) | 47 (7, 96) | 33 (8, 86)c | 12 (6, 84) | 0.027* |
| Stand, n (%) | 1 (3.6) | 4 (7.1) | 5 (18.5) | 0.121 |
| Acquire age (range) | 13 (13, 13) | 41 (26, 48) | 36 (16, 84) | 0.273 |
| Walk, n (%) | 1 (3.6) | 2 (3.6) | 2 (7.4) | 0.705 |
| Acquire age (range) | 15 (15, 15) | 38.5 (29, 48) | 108 (96, 120) | 0.165 |
| Cognitive milestone | ||||
| Recognize stranger, n (%) | 21 (75.0) | 51 (91.1) | 25 (92.6) | 0.072 |
| Acquire age (range) | 8 (3, 48) | 8 (4, 60) | 8 (4, 36) | 0.955 |
| Speak, n (%) | 11 (39.3)a | 44 (78.6) | 25 (92.6)b | < 0.001* |
| Acquire age(range) | 36 (12, 72)a | 19 (6, 86) | 12 (6, 30)b | 0.002* |
| Other neurological finding | ||||
| Joint contracture, n (%) | 8 (28.6) | 10 (17.9) | 5 (18.5) | 0.494 |
| Spasticity tetraparesis, n (%) | 0 | 4 (7.1) | 1 (3.7) | 0.322 |
| Pyramidal signs, n (%) | 3 (10.7) | 3 (5.4) | 6 (22.2) | 0.068 |
| Brainstem dysfunction, n (%) (Swallowing difficulty, respiration dysfunction) | 15 (53.6)a | 8 (14.3) | 0 (0)b | < 0.001* |
| Ataxia, n (%) | 2 (7.1) | 3 (5.4) | 2 (7.4) | 0.917 |
| Seizure, n (%) | 4 (14.3) | 4 (7.1) | 0 | 0.123 |
*Significant difference between three groups
aSignificant between connatal and transitional group was significant
bSignificant between connatal and classis group was significant, cSignificant between transitional and classic group was significant