Table 2.
Descriptive statistics of outcomes by individual grouping.
| Grouping by metabolic defect | |||||
|---|---|---|---|---|---|
|
Group A
(N = 268) |
Group B
(N = 11) |
Group C
(N = 1) |
Group D
(N = 10) |
Group E
(N = 4) |
|
| Sex, n (%) | |||||
| Female | 131 (48.9%) | 6 (54.5%) | 1 (100.0%) | 6 (60.0%) | 3 (75.0%) |
| Male | 137 (51.1%) | 5 (45.5%) | 0 (0.0%) | 4 (40.0%) | 1 (25.0%) |
| Race, n (%) | |||||
| White | 209 (78.0%) | 4 (36.4%) | 0 (0.0%) | 7 (70.0%) | 2 (50.0%) |
| Non-White | 59 (22.0%) | 7 (63.6) | 1 (100.%) | 2 (20.0%) | 13 (50.0%) |
| Autism, n (%) | 4 (1.5%) | 1 (9.1%) | 0 (0.0%) | 0 (0.0%) | 1 (25.0%) |
| Expressive language disorder/delay, n (%) | 1 (0.4%) | 3 (27.3%) | 0 (0.0%) | 1 (10.0%) | 0 (0.0%) |
| Blue sclera, n (%) | 221 (82.5%) | 7 (63.6%) | 1 (100.0%) | 5 (50.0%) | 2 (50.0%) |
| Dentinogenesis imperfecta, n (%) | 131 (48.9%) | 2 (18.2%) | 0 (0.0%) | 2 (20.0%) | 0 (0.0%) |
| Age at first hearing loss diagnosis, mean (SD) | 8.6 (6.16) | 2.0 (1.41) | 3.0 (..) | 8.0 (.) | |
| Age at first bisphosphonate infusion, mean (SD) | 3.9 (4.52) | 2.5 (4.61) | 3.0 (.) | 2.0 (1.76) | 3.8 (3.30) |
| Age at DEXA, mean (SD) | 11.4 (5.10) | 7.0 (4.84) | 8.0 (.) | 10.0 (4.16) | 11.5 (4.36) |
| Patient received bisphosphonates at time of DEXA, n (%) | 231 (87.5%) | 11 (100.0%) | 1 (100.0%) | 10 (100.0%) | 4 (100.0%) |
| DEXA Z-score, mean (SD) | −1.1 (1.73) | −1.7 (2.21) | −3.0 (.) | 0.4 (1.63) | −1.8 (1.41) |
| Family history of OI, n (%) | 91 (34.0%) | 0 (0.0%) | 0 (0.0%) | 3 (30.0%) | 0 (0.0%) |
| History of scoliosis, n (%) | 108 (40.4%) | 7 (63.6%) | 1 (100.0%) | 7 (70.0%) | 1 (25.0%) |
| Scoliosis operations, n (%) | 21 (19.4%) | 0 (0.0%) | 0 (0.0%) | 1 (14.3%) | 0 (0.0%) |
| History of rod placement for long bone deformity, n (%) | 184 (68.7%) | 9 (81.8%) | 1 (100.0%) | 7 (70.0%) | 3 (75.0%) |
| Presence of joint hypermobility, n (%) | 207 (77.2%) | 9 (81.8%) | 0 (0.0%) | 8 (80.0%) | 4 (100.0%) |
| Patient diagnosed short in stature, n (%) | 145 (54.1%) | 8 (72.7%) | 0 (0.0%) | 7 (70.0%) | 4 (100.0%) |
Descriptive statistics only for the comparison of Groups A-E due to small sample sizes.
Abbreviations: DEXA, Dual-Energy X-ray Absorptiometry; SD, standard deviation. The values were intentionally left blank as the N was too small for a SD.