Table 3 Demographic profile and outcome themes, four major outcome themes, domains and subdomains with the selected outcome measures
From: A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
| Patient population | Measure | Supporting information | Timing | Data source |
|---|---|---|---|---|
| Patient demographic factors | Diagnosis | Clinical | ||
| All patients | Date of birth | N/A | ||
| Gender | Gender at birth | |||
| Patient’s status | Patient alive or dead | |||
| If previous question is equal to “death”: Date of death | Patient’s date of death | |||
| First contact with specialized center | Date of the first contact with the specialized center | |||
| Age at onset | Age at which the symptoms/sign first appeared | |||
| Age at diagnosis | Age at which diagnosis was made | |||
| Family demographic factors | ||||
| All patients | Sibling with OI | N/A | ||
| Father with OI | N/A | |||
| Mother with OI | N/A | |||
| Baseline clinical status | ||||
| All patients | Diagnosis OI | ORPHA code | ||
| Diagnosis OI | Orphanet code | |||
| Genetics | Exact mutation International classification of HGVS (http://www.hgvs.org)/HGNC/OMIM code | |||
| Clinical OI type | Sillence classification (Type I–V) | |||
| Patient population | Measure | Measurement tool | Timing (min) | Data source |
|---|---|---|---|---|
| Major events | ||||
| All patients | Fractures | The approximate number of historical fractures | Baseline | Self/parent reported |
| All patients | Patient reported fracture incidence |
Children: at diagnosis and 3, 6, 8, 11, 15 years end of paediatric care (< 18 years) Adults: 18 years and every 5 years | Self/parent reported | |
| All patients | Clinically evaluated fracture incidence | Clinicala | ||
| All patients | X-ray/radiologically confirmed fracture incidence | |||
| Children | Mechanism (high energy trauma, low energy trauma, unknown) | |||
| All patients | Treatment (surgical, conservative, no treatment) | |||
| All patients | Fracture healing: duration < 2 months, 2–6 months, > 6 months, non-union | |||
| Children | Surgery | Frequency per year | ||
| All patients | Type of surgery | |||
| All patients | Reason: Fracture/deformity | |||
| All patients | Fracture healing: < 2 months, 2–6 months, > 6 months, non union | |||
| All patients | Reoperation rate | |||
| Patient population | Measure | Measurement tool | Timing (min) | Data source |
|---|---|---|---|---|
| Clinical status | ||||
| All patients | Bone mineral density | DEXA corrected for height | Children: yearly | Clinical |
| Adults: 18 years and every 5 years | ||||
| Medical treatment | Children: yearly | |||
| Adults: 18 years and every 5 years | ||||
| Children | Spine deformity | X-Ray Total Spine AP and Lateral, Cobb angles | Children: at diagnosis and 3, 6, 8, 11, 15 years end of paediatric care (< 18 years) | |
| Adults | Adults: baseline | |||
| Children | Joints | Beighton (5 +) | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) | |
| Adults | Adults: baseline | |||
| Children | Limb anomalies | Leg length discrepancy: clinical | Children: at diagnosis and 3, 6, 8, 11, 15 years end of paediatric care (< 18 years) | |
| Children | Leg length discrepancy: AP and/or lateral Standing Long Leg X-rays | Children: baseline at 8 years | ||
| Adults | Leg length discrepancy: clinical | Adults: baseline | ||
| Children | Growth and weight | Length (overall height) | Children: yearly | Clinicala |
| Adults | Adults: baseline | |||
| Children | Arm span | Children: yearly | ||
| Adults | Adults: baseline | |||
| Children | Weight | Children: yearly | ||
| Adults | Adults: 18 years and every 5 years | |||
| Function | ||||
| Children | Lower Limb | FMS | Children: at diagnosis and 3, 6, 8, 11, 15 years end of paediatric care (< 18 years) | Clinical |
| Children | PROMIS Pediatric Item Bank v2.0—Mobility—Short Form 8a & PROMIS Parent Proxy Item Bank v2.0—Mobility—Short Form 8a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages | |
| All patients | 30 s walk test |
Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) Adults: 18 years and every 5 years | Clinical | |
| Adults | PROMIS Item Bank v2.0—Physical Function—Short Form 8b | Adults: 18 years and every 5 years | Self reported | |
| Children | Upper limb function | PROMIS Pediatric Item Bank v2.0—Upper Extremity—Short Form 8a & PROMIS Parent Proxy Item Bank v2.0—Upper Extremity—Short Form 8a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages |
| Adults | PROMIS Item Bank v2.0—Upper Extremity—Short Form 7a | Adults: 18 years and every 5 years | Self reported | |
| Children | Selfcare | PROMIS Pediatric Item Bank v2.0—Upper Extremity—Short Form 8a & PROMIS Parent Proxy Item Bank v2.0—Upper Extremity—Short Form 8a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages |
| Adults | SUNNAAS ADL Index in adults | Adults: 18 years and every 5 years | Clinical | |
| Quality of life | ||||
| Children | Pain | PROMIS Pediatric Item Bank v2.0—Pain Interference—Short Form 8a & PROMIS Parent Proxy Item Bank v2.0—Pain Interference—Short Form 8a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages |
| Adults | PROMIS Item Bank v1.0—Pain Interference—Short Form 8a | Adults: 18 years and then every 5 years | Self reported | |
| Children | Faces Pain Rating Scale colored analogue scale | Children 6, 8, 11 years | Self reported | |
| Adults | PROMIS Item Bank v.1.0—Pain Intensity—Scale | Adults: 18 years and then every 5 years | Self reported | |
| Children | Emotional wellbeing | PROMIS Pediatric Item Bank v2.0—Anxiety—Short Form 8a & PROMIS Parent Proxy Item Bank v2.0—Anxiety—Short Form 8a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages |
| Children | PROMIS Pediatric Item Bank v2.0—Depressive Symptoms—Short Form 8a & PROMIS Parent Proxy Item Bank v2.0—Depressive Symptoms—Short Form 6a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages | |
| Adults | PROMIS Item Bank v1.0—Emotional Distress—Anxiety—Short Form 8a | Adults: 18 years and then every 5 years | Self reported | |
| Adults | PROMIS Item Bank v1.0—Emotional Distress—Depression–Short Form 8a | Adults: 18 years and then every 5 years | Self reported | |
| Children | Fatigue | PROMIS Pediatric Item Bank v2.0—Fatigue—Short Form 10a & PROMIS Parent Proxy Item Bank v2.0—Fatigue—Short Form 10a | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages |
| Adults | PROMIS Item Bank v1.0—Fatigue—Short Form 8a | 18 years and then every 5 years | Self reported | |
| Children | Social functioning | PedsQL—Questions social functioning and school functioning, | Children: at diagnosis and 3, 6, 8, 11, 15 years end of paediatric care (< 18 years) | Patient/parent reported |
| Children | PROMIS Pediatric Item Bank v2.0—Peer Relationships & PROMIS Parent Proxy Item Bank v.2.0—Peer Relationships | Children: at diagnosis and 6, 8, 11, 15 years end of paediatric care (< 18 years) |
Self reported: from 8 years and older Parent reported: all ages | |
| Adults | PROMIS Item Bank v2.0—Ability to Participate in Social Roles and Activities—Short Form 8a | Adults: 18 years and then every 5 years | Self reported | |
| Adults | PROMIS v2.0 Brief Profile Sexual Function and Satisfaction (Female) | Adults: 18 years and then every 5 years | Self reported | |
| Adults | PROMIS v2.0 Brief Profile Sexual Function and Satisfaction (Male) | Adults: 18 years and then every 5 years | Self reported | |
| Children | Participation (education, work, leisure and sports) | PedsQL—school function (5 items) | Children: at diagnosis and 3, 6, 8, 11, 15 years end of paediatric care (< 18 years) | Patient/parent reported |
| Adults | PROMIS Item Bank v2.0—Satisfaction with Social Roles and Activities—Short Form 8a | Adults: 18 years and then every 5 years | Self reported | |
| Adults | PROMIS Item Bank v2.0—Ability to Participate in Social Roles and Activities—Short Form 8a | Adults: 18 years and then every 5 years | Self reported | |