Table 2.
Serious MPS II disease manifestations and concomitant medical issues for the patients in the study by phenotype
| Disease manifestation a , n (%) | Severe (n = 36) | Attenuated (n = 16) | Total (N = 52) |
|---|---|---|---|
| Hearing loss | 28 (75.7) | 13 (86.7) | 41 (78.8) |
| Disabling joint stiffness | 25 (69.4) | 15 (93.8) | 40 (76.9) |
| Hernias | 24 (66.7) | 13 (81.3) | 37 (71.2) |
| Adenoidectomy | 22 (61.1) | 13 (81.3) | 38 (67.3) |
| Mental retardation | 24 (66.7) | 4 (25.0) | 28 (53.8) |
| Spine deformities | 17 (45.9) | 9 (60.0) | 26 (50.0) |
| Tonsillectomy | 16 (44.4) | 9 (56.3) | 25 (48.1) |
| Recurrent otitis | 17 (45.9) | 7 (46.7) | 24 (46.2) |
| Loss of vision | 11 (30.6) | 8 (50.0) | 19 (36.5) |
| Sleep apnoea | 13 (36.1) | 5 (31.3) | 18 (34.6) |
| Skin involvement | 11 (30.6) | 4 (25.0) | 15 (28.8) |
| Other serious clinical eventsb | 10 (27.0) | 3 (20.0) | 13 (25.0) |
| Breathing difficulties with hospitalisation | 9 (25.0) | 4 (25.0) | 13 (25.0) |
| Stay in intensive care unitc | 5 (13.9) | 3 (18.8) | 8 (15.4) |
| Aspiration requiring hospitalisation | 2 (5.6) | 1 (6.3) | 3 (5.8) |
| Spinal cord compression | 1 (2.7) | 1 (6.3) | 2 (3.8) |
| Heart failure with hospitalisation | 1 (2.7) | 1 (6.7) | 2 (3.8) |
aCounts are not mutually exclusive, patients can have more than 1 manifestation.
bBehavioural problems (6), asthma (1), epilepsy (1), psoriasis (1), accelerated growth (1), Prader-Willi syndrome (1), mitral valve dysplasia (1).
c1 post-operatively, and 1 for breathing problems.