Table 2.
HR-QOL outcomes
| No | Author | HR-QOL Assessment(s) | Comparator | HR-QOL Outcome | Outcome by OI type | Associations with HR-QOL |
|---|---|---|---|---|---|---|
| 1 | Orlando [35] | PSC (SF-36) | Normative population | PCS ↓ * | PCS ↓ vs control for all OI types* | PCS correlated with fatigue (FACIT-F score), pain score, OI severity |
| Physical function ↓ * | PCS ↓ T3/ 4 lower vs T1* | |||||
| Bodily pain ↓ * | ||||||
| Role-physical ↓ * | ||||||
| General health ↓ * | ||||||
| European Quality of Life 5 Dimensions 5 Level Version (EQ-5DL-5L) | Normative population | EQ-5D-5L: Moderate/ severe difficulties | EQ-5D-5L: Self-care and severe mobility problems ↑ T3 OI* | N.R. | ||
| Mobility 39% ↓ * | ||||||
| Usual activities 19% ↓ * | ||||||
| Pain 23% ↑ * | ||||||
| Self-care 19% ↔ | ||||||
| Anxiety/ depression 12% ↔ | ||||||
| Functional Assessment of Chronic Illness Therapy- fatigue (FACIT-F) | Normative population | FACIT-F: Fatigue ↑ in all OI types* | N.R. | N.R. | ||
| Nottingham Extended Activities of Daily Living Scale (NEADL) | NEADL: T3 + 4 had severe problems with mobility and domestic tasks. T1 reported no/ mild difficulty performing most activities | NEADL: Difficulty was mobility and domestic tasks ↑ in T3 vs T1* | N.R. | |||
| 2 | Murali [36] | Short Form-12 (SF-12) | Normative population | PCS ↓ * | PCS ↓ in T3 vs T1/ 4* | N.R. |
| MCS ↔ | MCS ↑ in T3 vs norm population* | |||||
| MCS in T1 and T4 ↔ vs norm population | ||||||
| 3 | Gjorup [24] | Oral Health Impact Profile-49 (OHIP-49) | XLH group | OI lesser negative impact on oral-related QOL vs XLH * | T3/ 4 has ↓ oral QOL in 2 of 7 domains vs T1 (physical disability + handicap)* | N.R. |
| Pain ↓* | ||||||
| Functional limitation ↓* | ||||||
| Psychological discomfort ↓* | ||||||
| Psychological disability ↓* | ||||||
| Handicap ↓* | ||||||
| Physical disability ↔ | ||||||
| Social disability ↔ | ||||||
| 4 | Yonko [37] | St George's Respiratory Questionnaire (SGRQ) | Normative population | Respiratory related-QOL ↓* | Respiratory related-QOL↓ in T3/4 vs T1* | Respiratory related-QOL correlates with age, activity level and pulmonary/ cardiac co-morbidities* |
| Scores do not correlate with degree of scoliosis | ||||||
| 5 | Matsushita [29] | Short Form-36 (SF-36) | Normative population | PCS ↓ 1st fracture < 2 yrs. old* | N.R. | ↓ PCS associated with: |
| PCS ↔ 1st fracture > 2yrs old | fracture < 2 yrs, > 5 lower extremity fractures, history of lower extremity surgery, shorter height, teeth abnormalities + cardio-pulmonary co-morbidities | |||||
| MCS ↔ vs control regardless of age at 1st fracture | ||||||
| 6 | Harsevoort [39] | Fatigue Severity Scale (FSS) | Normative populations (× 2) | Fatigue ↑ * | Fatigue independent OI type | N.R. |
| Severe fatigue ↑ (27% vs 5%*) | ||||||
| 7 | Khan [34] | SF-36 | Normative population | PCS ↔ | Pulmonary co-morbidities associated with ↓ MCS and PCS scores* | |
| MCS ↔ | ||||||
| SGRQ | SGRQ: Respiratory -related QOL in OI ↓* | SGRQ: Respiratory -related QOL ↓in T3 vs T1* | SGRQ: Pulmonary co-morbidities associated with ↓ QOL* | |||
| FEV1/FVC correlated with St George's QOL score* | ||||||
| 8 | Gooijer [32] | SF-36 | Normative populations (× 2) | PCS ↓* | Physical function ↓ in T3 vs T1 + T4* | Bodily pain ↑ in older age group |
| MCS ↔ | ||||||
| Physical function ↓ | Bodily pain ↑ in T1 + T4* | |||||
| Bodily pain ↓ | ||||||
| Role-physical ↓ | Mental health, vitality ↓ in T1 only* | |||||
| General health ↓ | ||||||
| Vitality ↓ T1 only | ||||||
| Social functioning ↓ T1/3/4 | ||||||
| Role limitations ↔ | ||||||
| Mental health ↓ T1 | ||||||
| 9 | Tosi [39] | Patient-Reported outcomes Measurement Information System scales (PROMIS ®) | Normative PROMIS® population | General physical health ↓* | N.R. | N.R. |
| Anxiety ↑* | ||||||
| Depression ↑* | ||||||
| Fatigue ↑* | ||||||
| Pain behaviour ↑* | ||||||
| Pain interference ↑* | ||||||
| Physical function ↓* | ||||||
| Satisfaction with social roles ↓* | ||||||
| Sleep disturbance ↑* | ||||||
| 10 | Feehan [26] | SF-36 | Bisphosphonate treatment in childhood vs | (i) SF-36: No difference between childhood treated and no treatment in childhood cohorts | Less severe forms of OI had improved physical functioning when treated in childhood* | N.R. |
| (i) no treatment in childhood cohort | Physical function ↔ | |||||
| (ii) normative population | Bodily pain ↔ | |||||
| Role-physical ↔ | ||||||
| General health ↔ | ||||||
| Vitality ↔ | ||||||
| Social functioning ↔ | ||||||
| Role limitations ↔ | ||||||
| Mental health ↔ | ||||||
| (ii) Physical function, vitality and general health domains ↓ in childhood treated cohort vs norm population* | ||||||
| World Health Organisation Quality of Life Assessment (WHOQOL-BREF) | Bisphosphonate treatment in childhood vs | WHOQOL-BREF: No difference between childhood treated and no treatment in childhood cohorts | N.R. | N.R. | ||
| (i) no treatment in childhood cohort | Physical ↔ | |||||
| (ii) healthy controls | Psychological ↔ | |||||
| Social relationships ↔ | ||||||
| Environment ↔ | ||||||
| Only physical domain ↓ vs healthy controls* | ||||||
| International Physical Activity Questionnaire (IAPQ) | IAPQ: higher physical activity in less severe OI who were treated in childhood* | N.R. | N.R. | |||
| 11 | Arponen [25] | Study specific fatigue, pain, sleep questionnaire | Control group | Fatigue 96% ↔ | N.R. | Daily pain increased with age* |
| Sleep disturbance 95% ↑* | Negative correlation between fatigue and OI severity* | |||||
| Daily pain 87% ↑* | ||||||
| Fatigue independent of OSA diagnosis | ||||||
| 12 | Hald [31] | SF-36 | Normative population | PCS ↓* | PCS ↓ T3 vs T1/ 4* | ↓ PCS scores correlate with OI severity and age* |
| MCS ↔ | MCS ↔ between OI types | ↑ MCS scores correlate with ↑ education status* | ||||
| Physical function ↓* | MCS ↑ T3 vs norm population* | |||||
| Bodily pain ↓* | ||||||
| Role-physical ↓* | ||||||
| General health ↓* | ||||||
| Vitality ↓* T1/ 4 only | ||||||
| Social functioning ↓* T1/ 3/ 4 | ||||||
| Role limitations ↓ T1/ 4 | ||||||
| Mental health ↔ | ||||||
| 13 | Forestier-Zhang [23] | EQ-5D-5L | FD, XLH groups | Severe/ extreme problems with: | N.R. | Age correlated with difficulty performing ADLs and worse perception of self-rated health |
| Mobility 26% | ||||||
| Self-care 10% | ||||||
| Activities 17% | ||||||
| Pain 16% | ||||||
| Anxiety/ depression 7% | ||||||
| No difference between OI and XLH/FD | ||||||
| 14 | Balkefors [33] | SF-36 | Normative population | Physical function ↓* | N.R. | N.R. |
| Bodily pain ↓* | ||||||
| Role-physical ↓* | ||||||
| General health ↓* | ||||||
| Vitality ↓* | ||||||
| Social functioning ↓* | ||||||
| Role limitations ↓* | ||||||
| Mental health ↓* | ||||||
| Life Satisfaction -11 (Li Sat-11) | High life satisfaction scores, lowest scores in physical health domain | |||||
| 15 | Nicolaou [30] | SF-36 | Normative population | Physical function ↓* | N.R. | N.R. |
| Bodily pain ↓* | ||||||
| Role-physical ↓* | ||||||
| General health ↓* | ||||||
| Vitality ↓* | ||||||
| Social functioning ↓* | ||||||
| Mental health ↔ | ||||||
| Role limitations ↔ | ||||||
| 16 | Widmann [28] | SF-36 | Normative population | PCS ↓* | N.R. | N.R. |
| MCS ↔ | ||||||
| Physical function ↓* | ||||||
| Bodily pain ↓* | ||||||
| Role-physical ↓* | ||||||
| General health ↔ | ||||||
| Vitality ↔ | ||||||
| Social functioning ↔ | ||||||
| Role emotional ↔ | ||||||
| Mental health ↔ | ||||||
| 17 | Widmann [27] | SF-36 | Normative population | PCS ↓* | N.R. | Scoliosis, FEV1, VC, FVC correlate with PCS* |
| MCS ↔ |
OI osteogenesis imperfecta, XLH X-linked hypophosphataemia, T 1/3/4, type 1/3/4 OI, ↑ higher, ↓ lower, ↔ equal, * statistically significant, < less than, > greater than, HR-QOL health-related quality of life, N.S. not significant, PCS physical component score, MCS mental component score, ADLs activities of daily living, FEV1 forced expiratory volume, VC vital capacity, FVC forced vital capacity, OSA obstructive sleep apnoea