Table 1.
Participant characteristics in children with mucopolysaccharidoses and healthy control children
| Covariate | Control (N=51) |
MPS (N=39) |
MPS IH (N=19) |
MPS IA (N=5) |
MPS II (N=11) |
MPS VI (N=4) |
|---|---|---|---|---|---|---|
| Female | 27 (52.9%) | 12 (30.8%) | 10 (52.6%) | 1 (20.0%) | 0 (0.0%) | 1 (25.0%) |
| Male | 24 (47.1%) | 27 (69.2%) | 9 (47.4%) | 4 (80.0%) | 11 (100.0%) | 3 (75.0%) |
| HCT | 0 (0.0%) | 21 (53.8%) | 19 (100.0%) | 0 (0.0%) | 0 (0.0%) | 2 (50.0%) |
| ERT (at time of evaluation) | 0 (0.0%) | 18 (46.2%) | 0 (0.0%) | 5 (100.0%) | 11 (100.0%) | 2 (50.0%) |
| Tanner: Pubic Hair | ||||||
| − 1 | 3 (5.9%) | 18 (46.2%) | 10 (52.6%) | 0 (0.0%) | 8 (72.7%) | 0 (0.0%) |
| − 2 or 3 | 9 (17.6%) | 4 (10.3%) | 3 (15.8%) | 0 (0.0%) | 1 (9.1%) | 0 (0.0%) |
| − 4 or 5 | 39 (76.5%) | 17 (43.6%) | 6 (31.6%) | 5 (100.0%) | 2 (18.2%) | 4 (100.0%) |
| Age (years) | 14.6 (2.0) | 12.2 (4.0) | 10.5 (3.9) | 16.7 (1.5) | 11.6 (2.9) | 16.5 (1.6) |
| Height SDS | 0.3 (1.0) | −2.6 (1.8) | −3.1 (1.5) | −1.6 (1.2) | −1.3 (1.3) | −4.9 (1.2) |
| Weight SDS | 1.2 (1.3) | −1.0 (2.0) | −1.4 (1.4) | 0.28 (1.4) | 0.38 (1.4) | −4.7 (1.6) |
| 25(OH)D (ng/ml)* | 48.9 (16.3)1 | 29.8 (9.3)9 | 35.5 (8.2)4 | 20.5 (7.5)1 | 23.4 (4.0)2 | 33.5 (6.4)2 |
| 25(OH)D < 20ng/ml | 0 (0.0%) | 4 (10.3%) | 0 (0.0%) | 2 (40.0%) | 2 (18.2%) | 0 (0.0%) |
| Bone Markers* | ||||||
| - BSAP (U/L) | 94.2 (62.6) | 150 (69.9)1 | 150 (67.8)1 | 108 (92.3) | 184 (54.6) | 108 (59.4) |
| - DPD (nmol/mmol creatinine) | 39.8 (27.4) | 53.3 (45.0)4 | 77.2 (55.6)3 | 24.1 (21.8) | 38.2 (15.8) | 29.6 (13.6)1 |
| - PYD (nmol/mmol creatinine) | 166 (78.2) | 275 (294.5)4 | 417 (387.5)3 | 130 (110.1) | 172 (63.5) | 140 (59.1)1 |
| - OCN (ng/ml) | 31.9 (11.4) | 50.4 (18.6) | 52.7 (18.2) | 39.0 (21.8) | 52.6 (20.7) | 47.7 (6.9) |
| Formation/Resorption Ratio* | ||||||
| - BSAP/DPD | 3.0 (3.1) | 4.2 (3.2)4 | 2.9 (2.7)3 | 6.3 (5.5) | 5.3 (2.1) | 2.9 (0.7)1 |
| - BSAP/PYD | 0.54 (0.2) | 0.86 (0.7)4 | 0.6 (0.56)3 | 1.2 (1.4) | 1.1 (0.39) | 0.62 (0.21)1 |
| - OCN/DPD | 1.2 (1.4) | 1.5 (0.93)4 | 1.1 (0.97)3 | 2.1 (1.1) | 1.5 (0.71) | 1.9 (0.76)1 |
| - OCN/PYD | 0.22 (0.09) | 0.29 (0.18)4 | 0.22 (0.16)3 | 0.37 (0.26) | 0.33 (0.15) | 0.4 (0.16)1 |
| CHQ (standard score 0-100)* | ||||||
| - Physical Functioning | NA | 65.6 (29.2)8 | 61.1 (26.8)5 | 32.2 (21.7) | 81.5 (21.3)2 | 94.4 (5.6)1 |
| - Bodily Pain | NA | 59.7 (28.7)8 | 61.4 (28.5)5 | 42.0 (23.9) | 56.7 (29.1)2 | 90.0 (17.3)1 |
Values presented are mean (SD) or N (%) where indicated. CHQ=Children’s Health Questionnaire; MPS=Mucopolysaccharidoses (MPS IH, MPS IA, MPS II, and MPS VI combined); MPS IH=Hurler syndrome; MPS IA=attenuated form (Hurler-Scheie and Scheie syndromes); MPS II=Hunter syndrome; MPS VI=Maroteaux-Lamy syndrome; OCN=osteocalcin; PYD=pyridinoline; DPD=deoxypyridinoline; Tanner=Tanner stage; SDS=standard deviation score; BSAP=bone specific alkaline phosphatase; HCT=hematopoietic cell transplantation; ERT=enzyme replacement therapy; 25(OH)D= 25 hydroxyvitamin D; NA=not applicable; 25(OH)D conversion: 1 ng/ml=2.496 nmol/l.
superscript denotes the number missing the respective bone marker/lab value/questionnaire (no superscript = no missing data).