Table 2 HR-QOL outcomes

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 1^st 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 ↔