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 |