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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”)