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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
  1. aAdditional patient/parent reported tracking possible (“self service”)