D02-00 Database and protocol to evaluate HRQOL of selected ... · HAEMO-SYM [63] Functional...
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D02-00
Database and protocol to evaluate HRQOL of selected RD in participating European countries
Document Information
Contract number 20091204
Document Type D02-00
Language GB
Document status IS
Format .PDF
Authors Ola Ghatnekar, Anna H Glenngård, Sara Olofsson, Ulf Persson (The Swedish Institute for Health Economics)
This deliverable arises from the project "Social Economic Burden and Health
Related Quality of Life in Patients with Rare Diseases in Europe" which has
received funding from the European Union in the framework of the Health
Programme.
The Executive Agency is not responsible for any use that may be made of the
information contained in this document.
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Contents 1. Background.......................................................................................................................................... 3
2. Objective.............................................................................................................................................. 4
3. Method................................................................................................................................................ 5
4. Results ................................................................................................................................................. 6
4.1 Search Results................................................................................................................................ 6
4.2 Instruments Used for Measuring HRQoL in Rare Diseases ......................................................... 11
4.2.1 Cystic Fibrosis (CF) ................................................................................................................ 11
4.2.2 Prader-Willi Syndrome (PWS)............................................................................................... 11
4.2.3 Haemophilia ......................................................................................................................... 12
4.2.4 Duchenne Muscular Dystrophy (DMD) ................................................................................ 13
4.2.5 Epidermolysis Bullosa (EB) ................................................................................................... 13
4.2.6 Fragile x Syndrome ............................................................................................................... 13
4.2.7 Scleroderma ......................................................................................................................... 13
4.2.8 Mucopolyaccharidosis .......................................................................................................... 14
4.2.9 Juvenile Idiopathic Arthritis (JIA).......................................................................................... 14
4.2.10 Histiocytosis........................................................................................................................ 15
4.2.11 Summary............................................................................................................................. 15
4.2 Content and Psychometric properties of Selected Instruments................................................. 16
5. Discussion and Conclusion ................................................................................................................ 24
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1. Background
There are two basic approaches and related instruments to measuring QoL, i.e. generic instruments
that provide a summary of HRQL; and specific instruments that focus on problems associated with
specific diseases, patient groups or areas of function. Generic instruments include health profiles and
instruments that generate health utilities (Guyatt et al 1993).
1.1 Generic/general health profiles
Generic or general health status measures are broadly applicable across different types and
severities of diseases and across different types of medical treatments or interventions. They are
thus designed to be able to describe the concept of health or quality of life in many different
conditions, illnesses, patients and populations. One (the main?) advantage of preference-based
measures of health with generic health state descriptive systems (e.g. EQ-5D, SF-6D, HUI) is that they
enable for comparison of health states across different diseases, e.g. for purpose of resource
allocation.
1.2 Disease-specific health profiles
The disadvantage of generic instruments is that general measures of health might be inappropriate
or insensitive for some medical conditions. Disease specific instruments are designed to assess
specific patient groups or illnesses and are very useful in measuring clinically important changes in
response to treatments. They are generally more sensitive than general instruments since they
include elements most relevant to a specific disease. The disadvantage of disease specific instrument
is that they cannot be used to compare health states across different patient populations.
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2. Objective To perform a systematic literature review with the aim to identify instruments used to evaluate
HRQOL and their applicability in the area of 10 rare diseases:
- Cystic fibrosis
- Prader-WilliSyndrom
- Fragile X Syndrome
- Haemophilia
- Duchenne Muscular Dystrophy
- EpidermolysisBullosa
- Sclerodermia
- Mucopolysaccharidosis
- Juvenile idiopathic arthritis
- Histiocytosis
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3. Method
3.1 Search Strategy
A structured literature search of PubMed was performed on 2011-02-23 with the aim to identify
studies using quality of life instruments in patients with 10 different rare diseases, using the
following search criteria:
("Quality of Life"[Mesh]) AND (questionnaire OR survey OR interview OR instrument) AND ("Cystic
Fibrosis"[Mesh] OR "Prader-Willi Syndrome"[Mesh] OR "Hemophilia A"[Mesh] OR "Hemophilia
B"[Mesh] OR "Muscular Dystrophy, Duchenne"[Mesh] OR "EpidermolysisBullosa"[Mesh] OR "Fragile
X Syndrome"[Mesh] OR “Scleroderma, Localized”[Mesh] OR “Scleroderma, Systemic”[Mesh]OR
"Mucopolysaccharidoses"[Mesh] OR "Arthritis, Juvenile Rheumatoid"[Mesh] OR
"Histiocytosis"[Mesh]) AND ((English[lang] OR Swedish[lang]))
A search was also performed adding the search term (EQ-5D OR EQ-5D-Y OR Zarit OR Barthel).
However, the number of identified articles did not change. It can therefore be assumed that all
available literature using these instruments is included in the original search.
An additional search, limited to articles in the following languages ((French[lang] OR German[lang]
OR Italian[lang] OR Spanish[lang] OR Bulgarian[lang] OR Hungarian[lang])) was also performes. This
search identified 9 articles of relevance, including four in German[1-4], one in French[5], two in
Italian[6, 7] and two in Spanish[8, 9].
3.2 Selection Criteria
Titles and abstracts of all identified articles were screened for possible full-text retrieval based on the
following inclusion criteria: (i) use or analysis of a standardized generic or disease-specific health-
related quality of life instrument (articles using or analysing instruments adapted to the specific
study or country setting were excluded); (ii) included patients or their care-takers with one of the
selected ten rare diseases; and (iii) original research article (discussions, reviews, and letters to the
editors were excluded).
3.3 Data Extraction
The following parameters were extracted from the included articles:
(i) The purpose of the instrument (generic index, generic profile, disease-specific profile)
(ii) The domains included in the instrument (e.g. physical health, mental health)
(iii) Reliability (reproducible and internally consistent results)
(iv) Validity (measure what it claims to measure)
(v) Responsiveness (measure changes over time that matters to patients)
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4. Results
4.1 Search Results
The literature search identified 278 articles. Titles and abstracts were reviewed to exclude articles
that did not meet the inclusion criteria. This left 134 articles in which the health-related QoL was
measured in one of the 10 rare diseases.
Table 1 summarizes the included article with respect to the disease studied and the instrument used.
The most frequently studied diseases were cystic fibrosis (37 articles), juvenile idiopathic arthritis (27
articles), scleroderma (27 articles), and haemophilia (27 articles). A few studies were identified for
epidermolysisbullosa (4 articles), Duchenne muscular dystrophy (2 articles), and Prader-Willi
syndrome (2 articles). No relevant articles were found for mucopolyaccharidosis.
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Table 1. Instruments for patient-reported outcomes (quality of life, independence, informal care-giving) in 10 selected rare diseases
Disease Generic Instrument Disease-Specific Instrument
Name of Instrument Ref No. Name of Instrument Ref No.
Child Health Questionnaire (CHQ) [10-14] Cystic Fibrosis Questionnaire (CFQ) [15-28]
Short-Form 36 (SF-36) [12, 14, 29, 30] Hospital Anxiety and Depression Scale (HADS) [17]
EQ-5D-Y [16] Cystic Fibrosis Quality of Life Questionnaire (CFQoL)
[31-34]
Pediatric Quality of Life Inventory (PedsQL)
[35] CF Coping Scale [31]
Questions on Life Satisfaction [4, 30, 36] 16-item Sino-Nasal Outcome Test (SNOT-16) [37]
Quality of Well-Being Scale (QWB) [38] The Caregiver Quality of Life Cystic Fibrosis (CQOLCF) Scale
[39]
King’s Health Questionnaire (KHQ) [40] The Quality of Life Profile for Chronic Diseases (PLC)
[30]
Nottingham Health Profile (NHP) [41] Chronic Respiratory Disease Questionnaire (CRDQ)
[42]
Disease-specific Scale of the Questions on Life Satisfaction
[43]
Cystic Fibrosis
St George’s Respiratory Questionnaire (SGRQ) [9]
Child Health Questionnaire (CHQ) [44] Prader-Willi Syndrome
Short-Form 36 (SF-36) [44, 45]
Health Utilities Index Mark 3 (HUI3) [46] Hemophilia-Specific Quality of Life Index (Haemo-QoL) Questionnaire
[47-54]
Short-Form 36 (SF-36) [48, 55-63] HEP-Test-Q [64]
EQ-5D [58, 62, 65] Hemophilia Pain Coping Questionnaire (HPCQ)
[55, 66]
Health Assessment Questionnaire (HAQ) [48, 57, 63] Chronic Pain Acceptance Questionnaire (CPAQ)
[55]
MOS-36 Health Survey [67] New Hemophilia Disease-Specific Measure [68-70]
Haemophilia
The Canadian Haemophilia Outcomes – Kids Life Assessment Tool (CHO-KLAT)
[71]
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HAEMO-SYM [63]
Functional Independence Score in Haemophilia (FISH)
[72]
Short-Form 36 (SF-36) [73] The Personal Adjustment and Role Skills Questionnaire (GHQ-30)
[74] Duchenne Muscular Dystrophy
The AutoquestionnaireQualite de vie Enfants Image (AUQEI)
[8]
Short-Form 36 (SF-36) [75] Quality of Life in EpidermolysisBullosa (QOLEB)
[76]
General Health Questionnaire-12 (GHQ-12)
[75] Skindex-29 [75]
EQ-5D [75] The Dermatology Life Quality Index (DLQI) [77]
EpidermolysisBullosa
Activities of Daily Living Score (ADL) [78]
Fragile X Syndrome Family-related life quality questionnaire (FLQ)
[3]
Visual Analogue Scale (VAS) [79] The Dermatology Life Quality Index (DLQI) [80]
Short-Form 36 (SF-36) [5, 6, 81-93] Symptom Burden Index (SBI) [94]
SF-12 [95] Saint George’s Respiratory Questionnaire (SGRQ)
[83, 96]
SF-6D [97] The McMaster Toronto Arthritis Patient Preference Disability Questionnaire (MACTAR)
[98, 99]
Health Assessment Questionnaire (HAQ) [6, 7, 81, 82, 87, 89, 91-93, 96, 100]
Scleroderma Gastrointestinal Tract 1.0 (SSC-GIT 1.0)
[101]
Activities of Daily Living (ADL) [79] Cochin Hand Function Scale (CHFS) [88]
WHO Quality of Life Instrument [102, 103] Scleroderma Health Assessment Questionnaire (S-HAQ)
[88, 90]
Manchester Short Assessment of Quality of Life (MANSA)
[104] Psychosocial Adjustment to Illness Scale [100]
EQ-5D [7] Satisfaction with Daily Occupations (SDO) [100]
Scleroderma
The Self-administrated Systemic Sclerosis Questionnaire (SySQ)
[105]
Mucopolyaccharidosis No Articles.
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Child Health Questionnaire (CHQ) [106-110] Juvenile Arthritis Quality of Life Questionnaire (JAQQ)
[111-113]
Visual Analogue Scale (VAS) [106, 114-119] Arthritis Impact Measurement Scales [120]
Childhood Health Assessment Questionnaire (CHAQ)
[1, 107, 111, 113, 116-119, 121-128]
DISABKIDS [2]
Health Utilities Index Mark 3 (HUI3) [107] KINDL-R-Questionnaire [1]
Short-Form 36 (SF-36) [114, 124, 129-132]
EQ-5D [130]
EQ-5D-Y [129]
Pediatric Quality of Life Inventory (PedsQL)
[35, 116, 122, 123, 125]
Health Assessment Questionnaire (HAQ) [114, 115, 126, 132]
The General Health Questionnaire (GHQ-30)
[114, 115]
Juvenile Idiopathic Arthritis
Quality of My Life [119]
Short-Form 36 (SF-36) [133] No name [134] Histiocytosis
Pediatric Quality of Life Inventory (PedsQL)
[133]
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4.2 Instruments Used for Measuring HRQoLin Rare Diseases
4.2.1 Cystic Fibrosis (CF)
Thirty-eightof the included articles studied the HRQoL in patiets with CF, whereof more than half (21
articles) used only disease-specific instruments. The most common disease-specific instrument was
“the Cystic Fibrosis Questionnaire (CFQ)”, which was applied by 14 studies. 4 studies used “the Cystic
Fibrosis Quality of Life Questionnaire (CFQoL)”. 11 articles used only generic instruments, whereof 6
applied “the Child Health Questionnaire (CHQ)”.
Fourteen of the included studies investigated the psychometric properties of instruments for
measuring health-related quality of life. Half of these studies did investigate the properties of the
Cystic Fibrosis Questionnaire (CFQ), a HRQoL instrument which was developed by Quittner in 2000, in
a German, English, French, Danish and US setting. All of these studies found it to be a reliable and
valid instrument for measuring HRQoL in CF patients. Four additional disease-specific instruments
were evaluated with regard to their psychometric properties, including the Cystic Fibrosis Quality of
Life Questionnaire (CFQoL), developed by Gee in 2003 (has as of today only been applied in a UK
setting), the Questions of Life Satisfaction for adolescents with cystic fibrosis (FLZ(M)-CF), the St
George’s Respiratory Questionnaire (SGRQ), and the Caregiver Quality of Life Cystic Fibrosis
(CQOLLCF). All of these instruments showed good psychometric properties.
Three studies evaluated the psychometric properties of generic instruments for measuring HRQoL in
CF patients, whereof one studied the use of EQ-5D-Y, one investigated the SF-36, and the remaining
compared three generic instruments to each other with respect to their properties (SF-36, the quality
of life profile for chronic diseases (PLC) and the questions on life satisfaction (FLZ(M))). Eidt-Koch
(2009) performed a study in four cystic fibrosis centres in Germany where quality of life data from 96
patients between 8 and 17 years was collected using the CFQ and the EQ-5D-Y. Results of both
instruments were compared by statistical analysis. The analysis showed several correlations between
different dimensions and the visual analogue scale of the EQ-5D and the scales of the different CFQ
versions for children, their parents and adolescents. Therefore, the authors concluded, the EQ-5D-Y
can be considered a cross-sectional valid generic health outcome measure which reflects differences
in health according to the progression of the lifelong chronic disease CF.
The SF-36 has been evaluated for its psychometric properties in a CF population by Gee et al 2002
and by Goldbeck et al 2001 (along with two other generic instruments). Gee et al found that the
domain structure of SF-36 was robust. However, the discriminatory ability of the measure was
disappointing. Goldbeck et al did not reach any conclusion on the feasibility of using SF-36 in patients
with CF but they concluded that all of the generic instruments evaluated showed similar reliability,
but different validity.
4.2.2 Prader-Willi Syndrome (PWS)
A longitudinal study of 13 GH-treated adult patients used the SF-36 and Psychological General Well-
Being Index (PGWBI) for the assessment of QoL and psychological well-being (Bertella 2007). The
instruments were responsive in that they detected improvements in both HRQoL and well-being,
although parents were less optimistic than children. Caliandro and colleagues (2007) used the SF-36
and the Child Health Questionnaire-Parent Form-50 (CHQ-PF50). They concluded that physical
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aspects of QoLwerecorrelated toweight whereas mental aspects were affected by facial features. No
psychometric tests were performed.
4.2.3 Haemophilia
The most frequently used and studied generic HRQoL instrument was SF-36. It has shown to have
very good responsiveness, concurrent and clinical criterion validity when validated against a disease
specific instrument. The EQ-5D has been less studied but seems to relate well to the SF-36.
Of the 27 articles identified studying HRQoL in haemophilia, 14 articles used disease-specific
instruments. The most frequently used disease-specific measure were “the Hemophilia Specific
Quality of Life Index (Haemo-QoL) Questionnaire”, which was used by 8 studies. 14 studies used
generic instruments, where the SF-36 combined with EQ-5D (3 articles), HAQ (3 articles), or a
disease-specific instrument (3 articles) were the most frequently used.
The EQ-5D indices showed a statistically significant correlation with each dimension of the SF-36
(Trippoli 2001). Both theEQ-5D and SF-36 were discriminant to patients’ orthopedic status (Scalone
2006) andresponsive to prophylaxis treatment (Royal 2002, Hoots 2008). The SF-36 has excellent
concurrent validity with Haemo-QOL and external clinical criterion validity (haemophilia clinical
status) and sensitivity (health status changes) (Remor 2005, Arranz 2004). The SF-36 instrument
detected differences in general health and vitality in hepatitis C virus infected patients (Posthouwer
2005). Among severe patients, physical functioning, role-physical, bodily pain and general health
were reduced (P<0.001), whereas vitality, social functioning, role-emotional and mental health were
similar to controls (Hartl 2008). In spite of no difference in HAQ score between males with mild
haemophilia and controls, they reported lower on six out of eight SF-36 domains as well as on the
physical component summary score (Walsh 2008). Severity of musculoskeletal morbidity was
predictors of physical role, bodily pain, vitality and social functioning (Solovieva 2001). The Health
Utility Index 2 and 3 were discriminant in severity (mild, moderate, severe), hepatitis and HIV (Barr
2002).
The Haemo-QOL disease specific instrument was developed by Bullinger(2003), and tested in several
European countries. It has acceptable internal consistency and retest reliability values. Young
children were impaired mainly in the dimensions 'family' and 'treatment', whereas older children had
higher impairments in the so-called 'social' dimensions, such as 'perceived support' and 'friends'
(Gringeri 2004). However, the psychometric indicators were less favourable for the youngest age
group (von Mackensen 2004).
The Haemophilia and Exercise Project Test Questionnaire (HEP-Test-Q) was accepted and found easy
to fill in by the patients (von Mackensen 2010). Psychometric testing revealed good values for
reliability in terms of internal consistency and test-retest reliability as well as for convergent validity
correlating highly with Haem-A-QoL, HAL and SF-36. Discriminant validity for certain clinical variables
was shown. Concurrent validity between the haemophilia-specific health-related quality of life
questionnaire for adults (HAEMO_QOL-A) total and subscale scores and all SF-36 subscale scores
were generally good (correlations range: 0.13-0.87) (Rentz 2008)
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4.2.4 Duchenne Muscular Dystrophy (DMD)
We found three studies in the literature search. The SF-36 physical function scores were massively
reduced but QoL was not correlated with the need for noninvasivepositive-pressure ventilation.
Vitality, role-emotional, social function, and mental health scores were nearly normal (Kohler 2005).
Personal psychological dimensions were fairly normal to general population or other chronic diseases
when measured with the Adjustment and Role Skills Scale (PARS-III) among parents andalpha
coefficients and factor analysis indicated good reliability and validity(Hendriksen 2009). Physical
function, family and leisure activity were important domains for QoL in the Autoquestionnaire
Quality de vie Enfant Image (AUQEI) and the agreement between child and caregiver reported QoL
was good(Longo-Araujo 2007).
4.2.5 EpidermolysisBullosa (EB)
We found four studies in the literature search whereof one studied impairment in Activities of Daily
Living” (ADL) and pain (Fine 2004). The other three studies used disease specific instruments
(Dermatology Life Quality Index (DLQI), Children's Dermatology Life Quality Index (CDLQI), Quality of
life - EpidermolysisBullosa (QOLEB) and General Health Questionnaire-12 (GHQ-12)) and two generic
instruments (SF-36 and EQ-5D (Tabolli 2009)). Quality of life varied depending on disease subtype
and women had lower QoL than men (Horn 2002, Frew 2009, Tabolli 2009). Patients with EB Simplex
had similar QoL as those with moderate to severe psoriasis (Horn 2002) and impairment was mainly
physical. Mental components of the SF-36 were similar to the general population. Caregiver stress
was related to the perceived disease severity (Tabolli 2009). No psychometric tests were performed
on the generic instruments.
4.2.6 Fragile x Syndrome
Only one study on Fragile X Syndrome was identified in the literature search (Sarimski 2010). This
study used the Family-Related Life Quality (FLQ) questionnaire to evaluate the QoL among mothers.
Child temperament and atypical behaviour, individual and social coping of the mothers had effect on
parenting stress. No psychometric tests were performed.
4.2.7 Scleroderma
Several studies indicate that SF-36 is a valid, responsive and reliable instrument for scleroderma.
There is one study on SF-6D, the instrument for estimating preference based HRQoL on the basis on
SF-36, which showed good test-retest reliability but poor to moderate agreement with other
preference measures. One study demonstrated good acceptability, feasibility and validity for EQ-5D.
Thirty articles were identified studying the HRQoL in patients with scleroderma. The majority (21
articles) used generic measures, where the SF-36 alone (3 articles) or combined with Health
Assessment Questionnaire (HAQ; 7 articles) or a disease-specific instrument (3 articles) were the
most frequently used. Six articles analysed the HRQoL of patients with scleroderma, using only
disease-specific instruments. The “Saint George’s Respiratory Questionnaire (SGRQ)” and the
“Scleroderma Health Assessment Questionnaire (S-HAQ)” were the only disease-specific instruments
that were used by more than one study.
Systemic scleroderma patients have impaired HRQoL compared to the general population. In the
Symptom Burden Index, symptoms are mainly found in pain, hand mobility, and skin and correlated
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well to the SF-36 (Kallen 2010). Good to excellent correlation between HAQ Disability Index and SF-
36 has been shown (Khanna 2005). The instrument is responsive. Digital ulcers mainly affect the
mental component of the SF-36Mouthon 2010). Clinical manifestations such as abdominal pain and
bloating, dyspnoea, itch were associated with reduced QoL measured by SF-36 (El-Baalbaki 2010,
Franck-Larsson 2009, Baron 2008, Georges 2006). Joint involvement affected mainly the physical
dimension (Johnson 2006). Lower HRQoL was detected with SF-36 for patients with diffuse
cutaneous involvement compared with limited involvement (Geroges 2006, Khanna 2007). Compared
to rheumatoid arthritis and psoriasis arthritis, joint involvement was more disabling in scleroderma
patients in one study but not in another (Johnson 2006, Danieli 2006). One study concluded that SF-
36 aggregate scores may be of less value (Rannou 2007).
The SF-6D showed good test-retest reliability but poor to moderate agreement with SG, Rating Scale
and TTO (Khanna 2007). It was showed responsive to treatment intervention with small effect size
(Khanna 2007). One study demonstrated good acceptability, feasibility and validity for EQ-5D in
scleroderma patients. Conceptually equivalent domains of EQ-5D demonstrated a good correlation
with HAQ correspondent domains (Gualtierotti 2010).
The McMaster Toronto Arthritis Patient Preference Disability Questionnaire (MACTAR) has good
construct validity, weak correlation to HAQ but responsive to changes (Nguyen 2010, Moutho 2008).
In the WHO QoL short form questionnaire arthritis pain and elevated psychological distress and
certain personality traits were associated with reduced HRQoL (Hyphantis 2007).
4.2.8 Mucopolyaccharidosis
No articles were found on Mucopolysaccharidosis.
4.2.9 Juvenile Idiopathic Arthritis (JIA)
Thirty articles studied the HRQoL in patients with JIA, whereof the majority (24 articles) used generic
measures. The generic instruments used included the “Childhood Health Assessment Questionnaire
(CHAQ)”, used by 17 articles, the SF-36, used by 6 articles, the “Pediatric Quality of Life Inventory
(PedsQL), used by 5 articles, and the “Child Health Questionnaire (CHQ)”, used by 5 articles. Four
articles applied a disease-specific questionnaire, whereof 3 used the “Juvenile Arthritis Quality of Life
Questionnaire (JAQQ)”. Only two studies used the EQ-5D on small patient samples.
EQ-5D and SF-36 showed impairment compared to general population (Bruns 2008, Jolles 2008,
Duarte-Salazar 2007). The SF-36 revealed pain, mental health,social and emotional impairments
(Bruns 2008, Foster 2003).However, impaired physical health but not in psychosocial has also been
reported with SF-36 (Ostile 2010, Arkela-Kautiainen 2005).EQ-5D and SF-36 were not able to
discriminate between JIA and juvenile ankylosing spondylitis (Duarte-Salazar 2007).HUI3 showed
responsiveness to treatment (Prince 2010).No psychometric tests were performed.
Child Health Questionnaire (CHQ) was shown to be responsive to treatment changes, reliable and
valid instrument with correlation between children and parents responses although differing
(Ruperto, 2010, Prince 2010, Norrby 2006, Sawyer 2004, Selvaag 2003).
The Childhood Health Assessment Questionnaire (CHAQ) has good psychometric properties, and is
responsive (Rostom 2010, Prince 2010). However, it did not manage to detect a difference in
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HRQoLbetween active and inactive polyarticular JIA (Ringold 2009). The physical functioning is well
covered in CHAQ (Bekkering 2007).
In five studies caregivers were surveyed as well but only in one study the Caregiver Burden Scale was
used. It showed that emotional more than physical aspects of the patients’ condition determined the
disease burden (Bruns 2008).
4.2.10 Histiocytosis
Two articles were found on Langerhans Cell Histiocytosis (LCH), whereof one used three different
generic instruments (SF-36,PedsQL and LHC DUX) and the other applied a disease-specific instrument
DUX 25. Compared with controls, children with LCH have lower HRQoL (Vrijmoet-Wiersma 2009).
However, when compared to only survivors with LCH no such difference was detected (Lau 2008).
This may be a result of different instruments (DUX 25 and LHC DUX vs. SF-36 and PedsQL). No
psychometric tests were performed.
4.2.11 Summary
Table 2 describes what type of instruments was most frequently used for measuring HRQoL in the
included articles by type of disease. Only generic Instruments were used in more than half of all
studies, while 39 percent used only disease-specific instruments and 10 percent applied both generic
and disease-specific instruments.
The most frequently used generic instrument was the Medical Outcome Study (MOS) Short-Form
Health Survey (SF-36).Other instruments of frequent use were HAQ and CHAQ, the CHQ and PedsQL.
EQ-5D was used by 3 studies in haemophilia, 1 study in EB and 1 study in JIA. EQ-5D-Y was used by 1
study in CF and 1study in JIA. We did not identify any articles on the Barthel Index or the Zarit Scale.
Disease-specific instruments were most frequently used for cystic fibrosis and haemophilia. The
instruments used in these articles were primarily the CFQ and the Haemo-QoL.
Table 2.Number of Articles (%) Using Different Type of Instruments by Type of Disease Studied
Only Generic
Instruments
Only Disease-
Specific Instruments
Both Generic and
Disease-Specific
Instruments
Cystic Fibrosis (CF) 12 (30) 23 (57) 5 (13)
Prader-Willi Syndrome (PWS) 2 (100) 0 (0) 0 (0)
DuchenneMyscular Dystrophy
(DMD)
2 (67) 1 (33) 0 (0)
EpidermolysisBullosa(EB) 1 (25) 2 (50) 1 (25)
Fragile X Syndrome 1(100) 0 (0) 0 (0)
Haemophilia 15 (56) 9 (33) 3 (11)
Scleroderma 20 (69) 5 (17) 4 (14)
Juvenile Idiopathic Arthritis
(JIA)
27 (87) 2 (6.5) 2 (6.5)
Histiocytosis 1 (50) 1 (50) 0 (0)
TOTAL 81 (61) 43 (32) 10 (7)
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4.2 Content and Psychometric properties of Selected Instruments
4.2.1 Characteristics of the Instruments
Short introduction with description of different types of instruments.
Preference-based Health Utility Index
Three different types of preference-based health utility index were identified, including the EuroQol
(EQ-5D), the Health Utilities Index (HUI), and the Short-Form 6 Dimensions (SF-6D) adapted from the
Medical Outcome Survey (MOS) Short-Form (SF-36).
EQ-5D is the most preferred instrument in health-economic research. It is a 5-item questionnaire
with 3 levels, allowing 243 different health states to be identified. The EQ-5D is translated to 150
different languages, and there is a youth version available for children and adolescents aged 7-12
years (the EQ-5D-Y). 5 of the included articles used the EQ-5D, whereof one in juvenile idiopathic
arthritis[130], one in epidermolysisbullosa[75], and three in haemophilia[58, 62, 65]. 2 of the
included articles used the EQ-5D-Y, whereof one in cystic fibrosis[16] and one in juvenile idiopathic
arthritis[129].
The HUI is available in 3 different versions, the HUI Mark 1 (HUI1), HUI Mark 2 (HUI2) and the HUI
Mark 3 (HUI3). Two of the included articles used the HUI3, whereof one in haemophilia[46] and one
in juvenile idiopathic arthritis[107].
The SF-6D provides a means for using the SF-36 and SF-12 in economic evaluation by estimating a
preference-based single index measure for health from these data using general population values.
One of the included articles used the SF-6D in scleroderma[97].
Generic Health Profiles
Functional Health
The Medical Outcome Survey (MOS) Short-Form 36 (SF-36) has become the most widely used
measure of general health in clinical studies throughout the world.It yields an 8-scale profile of
functional health and well-being scores as well as psychometrically-based physical and mental health
summary measures and a preference-based utility index (through the SF-6D). Since the physical and
mental component summary scales capture about 85 % of the reliable variance in the eight scale SF-
36, a twelve-items version has been developed as a simplified version, the Short-Form 12 (SF-12). 39
of the included articles used the SF-36, whereof four in cystic fibrosis[12, 14, 29, 30], two in prader-
willi syndrome[44, 45], 11 in haemophilia[48, 55-63, 67], one in duchenne muscular syndrome[73],
one in epidermolysisbullosa[75], 13 in scleroderma[81-93], six in juvenile idiopathic arthritis[114,
124, 129-132], and one in histiocytosis[133]. One of the included articles used the SF-12 in
scleroderma[95].
The Nottingham Health Profile (NHP) was developed to be used in epidemiological studies of health
and disease, and consists of two parts. Part I contains 38 yes/no items in 6 dimensions which is
scored using weighted values which give a range of possible scores from zero (no problem at all) to
100 (presence of all problems within a dimension). Part II contains 7 general yes/no questions
concerning daily living problems. 1 of the included articles used the NHP in cystic fibrosis.[41]
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The World Health Organization has developed two instruments for measuring quality of life (the
WHOQOL-100 and the WHOQOL-BREF), that can be used in a variety of cultural settings whilst
allowing the results from different populations and countries to be compared. The WHOQOL-100 is
constructed in 6 broad domains of quality of life, with 24 facets and 100 items. The WHOQOL-100
produces scores relating to particular facets of quality of life, scores relating to larger domains, and a
score relating to overall quality of life and general health. The WHOQOL-BREF is an abbreviated 26
item version of the WHOQOL-100. 2 of the included articles used the WHOQOL in scleroderma[102,
103].
The Child Health Questionnaire (CHQ) is a family of generic quality of life instruments that have been
designed and normed for children 5 to 18 years of age. The CHQ measures 14 unique physical and
psychosocial concepts. The parent form is available in two lengths – 50 or 28 items. The youth self-
report version is 87 items and has been developed for ages 10 and older. Scores can be analyses
separately (the CHQ Profile Scores), or combined to derive an overall physical and psychosocial score
(the CHQ Summary Score). 11 of the included articles used the CHQ, whereof five in cystic
fibrosis[10-14], five in juvenile idiopathic arthritis[106-110], and one in prader-willi syndrome[44].
Pediatric Quality of Life Inventory (PedsQL) is designed to measure health-related quality of life in
healthy children and adolescents and those with acute and chronic health conditions 2 to 18 years of
age. It includes four scales and 23 items, yielding a Physical Health Summary Score, a Psychosocial
Health Summary Score, and a Total Scale Score. PedsQL is available in parent form and for child self-
report version adapted to different age intervals (2-4, 5-7, 8-12, 13-18). 6 of the included articles
used the PedsQL, whereof four in juvenile idiopathic arthritis[116, 122, 123, 125], one in cystic
fibrosis[35], and one in histiocytosis[133].
Well-Being
Questions on Life Satisfaction Questionnaire.
The General Health Questionnaire (GHQ) is one of the most common assessments of mental well-
being. It was developed as a screening tool to detect those likely to have or be at risk of developing
psychiatric disorders. It consists of four domains, and is available in a variety of versions using 12, 28,
30, or 60 items. The 28-item version is used most widely. Each item is accompanied by four possible
responses (0-3), yielding a total possible score on the GHQ28 ranging from 0 to 84. 3 of the included
articles used the GHQ, whereof two used the GHQ30 in juvenile idiopathic arthritis[114, 115], and
one used the GHQ12 in epidermolysisbullosa[75].
The General Well Being (GWB) Schedule is a self-administered questionnaire that focuses on one’s
subjective feelings of psychological well-being and distress. It consists of 18 items covering six
dimensions, yielding a total score running from 0 to 110 with lower scores indicating more severe
distress. EJ
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Table 3.Characteristics of Selected HRQoL Instruments for Rare Diseases
Instrument Domains Number of
Items
Number of Levels Respondents
Intended for
(age/disease)
Language
Preference-based Health Utility Index
EuroQol (EQ-5D)1
Mobility, Self-care, Main/Daily Activity, Pain, Mood
5 3 243 health states
General and specific populations
150 translated versions (see web-page)
EuroQol – youth version (EQ-5D-Y)2
Mobility, Self-care, Main/Daily Activity, Pain, Mood
5 3 243 health states
Children and adolescents aged 7-12 years
9 translated versions (see web-page)
Health Utilities Index Mark 3(HUI3)3
Vision, Hearing, Speech, Ambulation, Dexterity, Emotion, Cognition, Pain
8 5/6 General and specific populations (5 years+)
English, French, Spanish, Italian, German, Dutch, Japanese
Short-Form 6D (SF-6D)4
Pain, Mental Health, Physical Functioning, Social Functioning, Role Limitation, Vitality
11 4-6 18,000 health states
General and specific populations
At least 50 translated versions. See web-page
Generic Health Profile
Short-Form 36 (SF-36)5
Physical Component: Physical Functioning (PF), Role-Physical (RP), Bodily Pain (BP), General Health (GH). Mental Component: Vitality (VT), Social Functioning (SF), Role-Emotional (RE), Mental Health (MH).
36 ? General and specific populations
At least 54 translated versions (see web-page)
1http://www.euroqol.org/ 2http://www.euroqol.org/
3http://fhs.mcmaster.ca/hug/ 4http://www.shef.ac.uk/scharr/sections/heds/mvh/sf-6d 5http://www.sf-36.org/
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Short-Form 12 (SF-12)6
Physical Health, Mental Health 12 ? General and specific populations
See web-page
Health Assessment Questionnaire (HAQ) Disability (HAQ Disability Index): Dressing, Arising, Eating, Walking, Hygiene, Reach, Grip, Common Activities Discomfort and Pain (HAQ Pain Scale)(VAS) Drug Side Effects (Toxicity) Dollar Costs
Disability Index: 8
Disability Index: 4 degree of difficulty, 4 need of assistance Disability Index
General and specific populations
Questions on Life Satisfaction (FLZM; FragenzurLebenzufriedenheitModule)
General Life Satisfaction, Satisfaction with Health
8 per domain
Rating of Subjective importance, Degree of Satisfaction “Weighted satisfaction score”
General and specific populations
Nottingham Health Profile (NHP)7
Energy Level, Pain, Emotional Reaction, Sleep, Social Isolation, Physical Abilities
38 Yes/No Score:1-100
General and specific populations (16 years+)
Translated to 21 languages (See web-page)
General (Mental) Health Questionnaire (GHQ) (Goldberg)
Depression, Anxiety, Somatic Symptoms, Social Withdrawal
12/28/30/60 0-3 Total: 0-84
General and specific populations
At least 38 different languages
Katz Basic Activities of Daily Living (ADL) Scale
Bathing, Dressing, Toileting, Transferring, Continence, Feeding
6 Independent Yes/No
6http://www.sf-36.org/ 7http://www.proqolid.org/instruments/nottingham_health_profile_nhp
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WHO Quality of Life(WHOQOL)-100/BREF8
Physical Health, Psychological Health, Social Relationships, Environment, Level of Independence Sprituality/Religion/Personal Beliefs (WHOQOL-100)
26/100 5
General and specific populations
Translated to at least 20different languages (see web-page)
Manchester Short Assessment of Quality of Life (MANSA)
16
The General Well-Being (GWB) Schedule Anxiety, Depression, General Health, Positive Well-Being, Self-Control, and Vitality
18 0-5 Total: 0-110
General and specific populations
Pediatric Generic Health Profile
Children’s Health Assessment Questionnaire (CHAQ)
Dressing & Personal Care, Getting Up, Eating, Walking, Hygiene, Reach, Grip, Activities (VAS: pain, general health)
X 5 Parents
Child Health Questionnaire (CHQ) (Parent and Child Form)9
Physical Functioning, Social Functioning, Bodily/Discomfort, General Behavior, Mental Health, General Health Perception, Self Esteem, Parental Impact (time & emotional), Family Functioning (activities & cohesion)
Parent Form: 28/50 Child Form: 87
CHQ Summary Score
Children 5-18 years of age. 5-13 years, parent responders. 10-18 years, child responders.
Pediatric Quality of Life Inventory (PedsQL)10
Physical Functioning, Emotional Functioning, Social Functioning
23 Psychosocial Health Summary Score, Physical Health Summary Score, Total Scale Score
Children 8-12 years of age (2-7, 8-12, 13-18) 2-18 years, parent responders
See web-page.
8http://www.who.int/substance_abuse/research_tools/whoqolbref/en/ 9http://www.healthact.com/survey-chq.php
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5-18 years, child responders.
Disease-Specific Health Profile
Cystic Fibrosis Questionnaire (CFQ)11 Physical Functioning, Vitality,
Emotional State, Social Limitations, Role Limitationes/School Performance, Embarrassment, Body Image, Eating Disturbances, Treatment Constraints
CFQ Teen/Adult: 50 CFQ Parent: 44 CFQ Child: 35
Scores for each HRQoL domain (1-100)
CFQ Teen/Adult: 14 years+ CFQ Partent/Child: 6-13 years
American English, German, Dutch, Portuguese, (ongoing translations in Spanish, Italian, Greek, Hebrew, Turkish).
Cystic Fibrosis Quality of Life Questionnaire (CFQoL)
The Caregiver Quality of Life Cystic Fibrosis (CQOLCF) Scale
The Quality of Life Profile for Chronic Diseases (CRDQ)
Hemophilia-Specific Quality of Life Index (Haemo-QoL) Questionnaire
New Haemophilia Measure
The Canadian Haemophilia Outcomes – Kids Life Assessment Tool (CHO-KLAT)
Functional Independence Score in Haemophilia (FISH)
Quality of Life in EpidermolysisBullosa (QOLEB)
The Dermatology Life Quality Index (DLQI)
Scleroderma Health Assessment Questionnaire (S-HAQ)
Juvenile Arthritis Quality of Life
10http://www.pedsql.org/ 11http://qol.thoracic.org/sections/instruments/ae/pages/cfq-cfq-r.html
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Questionnaire (JAQQ)
The McMaster Toronto Arthritis Patient Preference Disability Questionnaire (MACTAR)
The Self-administrated Systemic Sclerosis Questionnaire (SySQ)
King’s Health Questionnaire (KHQ) Global Health Perceptions, Incontinence Impact, Role Limitations, Physical Limitations, Social Limitations, Personal Relationsships, Emotions, Sleep/Energy , Severity Measures
20 4 Patients with an overactive bladder
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5. Summary This review identified 134 abstracts on generic- or disease specific health related quality of life
(HRQoL) for nine out of ten identified rare diseases. There was a wide range in the number of studies
performed on each disease (0 for mucopolysaccharidosis and 40 for cystic fibrosis). Also the use of
generic and disease specific instruments varied between conditions – disease specific instruments
only was used in 6.5% of the studies on juvenile idiopathic arthritis and 57% of the studies on cystic
fibrosis.The size of the studies also showed great variation – from 10 patients in haemophilia to 3364
patient in JIA. The reasons for these variations are probably plenty but the prevalence /incidence of
the condition, study purpose and the development of treatments with clinical studies may explain
some.
The results have mainly focused on the psychometric aspects of preference based generic
instruments as these can be used to compare outcomes between diseases for economic purposes.
Formal tests for reliability, validity and responsiveness of the instruments were rather scarce. The
associations between certain dimensions of instruments and clinical measures were more frequent,
sometimes with diverging conclusions between studies.
The SF-36 instrument was the most frequently used generic instrument. Although this is not a
preference based instrument it can easily be converted to one using conversion algorithms. Using
this instrument to estimate the HRQoL would therefore provide information that can be validated
with other studies as well as estimating QALY-weights. However, the interpretation of the QALY-
weights obtained through conversion algorithms may not be straight forward [Mortimer, Segal. Med
Decis Making 2008(28):66-89].Other indirect instruments for estimating QALY-weights were the EQ-
5D and HUI2/3 which were used much less in the reviewed studies.
In general there were only few studies analysing the HRQoLmeasured by caregivers. Caregivers, or
proxies, tended to estimate the patient’s HRQoL lower than the child. Especially the physical
dimensions were lower rated by the proxy than the patient. The other important question, namely
how the caregiver’s HRQoL was impaired by the patient’s condition, was only studied in very few
studies. It is therefore difficult to determine which, if any, of the preference based instruments are
suitable for estimating this burden for the studied conditions. This is an area where more research is
needed.
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