Table 4 Study characteristics and participant demographics for included studies

Bartlett et al. (2010) [33]

To explore possible reasons for the observed decline in gross motor capacity of adolescents with cerebral palsy in GMFCS levels III, IV and V

Canada

Prospective cohort

Adolescents with cerebral palsy

GMFCS level

GMFCS III: 38%

GMFCS IV: 35%

GMFCS V: 27%

Cerebral palsy sub-type

Diplegia: 24%

Hemiplegia: 1%

Tetraplegia: 71%

n = 135

Mean 14 yrs. (±2.4; range 11–17)

44% female / 56% male

Bray et al. (2017) [15]

To compare how children with mobility impairments and their parents (by proxy) report HRQoL using standard outcome measures

UK

Cross-sectional

Children and adolescents with impaired mobility (relevant conditions: cerebral palsy, hemiplegia, muscular dystrophy)

Mixed diagnoses

Cerebral palsy: 85%

Hemiplegia/stroke: 8%

Muscular dystrophy: 8%

n = 13

Range 6-18 yrs.

39% female / 62% male

Burstrom et al. (2014) [11]

To test the feasibility and validity of the EQ-5D-Y in a Swedish patient sample of children and adolescents with functional motor, orthopaedic and medical disabilities and to compare the results with a general population sample

Sweden

Case-control

Children and adolescents with functional motor, orthopaedic and medical disabilities (relevant conditions: artrogryposis multiple congenital, myelomeningocele, cerebral palsy, orthopaedic lower limb deformities, achondroplasia)

Mixed diagnoses

Artrogryposis multiple congenital: 14%

Myelomeningocele: 17%

Cerebral palsy: 20%

Orthopaedic lower limb deformities: 7%

Achondroplasia: 6%

n = 71 case group

n = 407 control group

Case group

Mean 12 yrs. (±3.1; range 7–17)

61% female / 39% male

Control group

Mean 13 yrs. (±2.7; range 8–16)

49% female / 51% male

Cavazza et al. (2016) [34]

To determine the economic burden from a societal perspective and the HRQoL of patients with Duchenne muscular dystrophy, in Europe

Multinational (Bulgaria, France, Germany, Hungary, Italy, Spain, Sweden, UK)

Cross-sectional

Adolescents and adults with Duchenne muscular dystrophy

Not stated

n = 268

Mean age varied by country, from 11 yrs. (±5.6) in Sweden to 23 yrs. (±15.8) in Bulgaria. 70% of sample were children (range 2–17)

7% female / 93% male

Christensen et al. (2016) [35]

To identify factors associated with a change in pain over time in children with cerebral palsy

Canada

Prospective cohort

Children and adolescents with cerebral palsy

GMFCS level

GMFCS I: 21%

GMFCS II: 11%

GMFCS III: 24%

GMFCS IV: 22%

GMFCS V: 22%

n = 148

Mean 8 yrs. (range 3–19)

30% female / 70% male

Findlay et al. (2015) [36]

To explore whether HRQoL can be predicted by pain, age, GMFCS level, and sex in children with cerebral palsy and whether different pain aetiologies have varying effects on HRQoL

Canada

Cross-sectional

Children with cerebral palsy

GMFCS level

GMFCS I: 26%

GMFCS II: 16%

GMFCS III: 23%

GMFCS IV: 18%

GMFCS V: 17%

Cerebral palsy sub-type

Unilateral: 19%

Bilateral spastic: 75%

Dyskinetic: 4%

Other (ataxic and hypotonic): 2%

n = 248

Mean 10 yrs. (±4.3)

37% female / 63% male

Hendriksz et al. (2014) [37]

To assess the global burden of disease among patients with Morquio A syndrome, including impact on mobility/wheelchair use, HRQoL, pain and fatigue and the interaction between these factors

Multinational (Brazil, Colombia, Germany, Spain, Turkey, UK)

Cross-sectional

Children and adults with Morquio A syndrome

Comorbidities

Bone deformity: 75% full sample

Abnormal gait: 96% adult group / 75% child group

n = 36 child group

n = 27 adult group

Child group

Range 5-17 yrs. (47% aged 10–14)

44% female / 56% male

Adult group

Range 18-40 yrs. (52% aged 18–24)

44% female / 56% male

Karmur and Kulkarni (2018) [38]

To understand the quality of life of patients with myelomeningocele and shunted hydrocephalus

Canada

Cross-sectional

Children and adolescents with spina bifida (myelomeningocele) and shunted hydrocephalus

Not stated

n = 131

Mean 12 yrs. (±3.7)

51% female / 49% male

Kennes et al. (2002) [39]

To describe the health status of pre-adolescent children with cerebral palsy, and to determine the strength of correlations between the severity of gross motor functional impairment and other aspects of functional health status (sensory, intellectual, emotional etc.)

Canada

Prospective cohort

Children with cerebral palsy

GMFCS level

GMFCS I: 28%

GMFCS II: 12%

GMFCS III: 20%

GMFCS IV: 20%

GMFCS V: 21%

n = 408

Mean 8 yrs. (±1.9; range 5–15)

46% female / 54% male

Kulkarni et al. (2004) [40]

To develop and test the psychometric properties of the Hydrocephalus Outcome Questionnaire (HOQ), as a measure of health status in clinical research projects of paediatric hydrocephalus

Canada

Cross-sectional

Children with hydrocephalus

Hydrocephalus aetiology

Congenital/aqueductal stenosis: 36%

Myelomeningocele: 13%

Other: 51%

n = 90

Mean 10 yrs. (±3.5)

Gender distribution not stated

Kulkarni et al. (2006) [41]

To compare three separate methods for establishing interpretability for the HOQ, and to calculate the conversion of numerical HOQ scores into utility scores obtained from HUI2

Canada

Cross-sectional

Children with hydrocephalus

Hydrocephalus aetiology

Congenital/aqueductal stenosis: 33%

Myelomeningocele: 15%

Intraventricular haemorrhage: 13%

Other: 40%

n = 79

Mean 10 yrs. (±3.5)

Gender distribution not stated

Kulkarni et al. (2008) [42]

To study the factors associated with HRQoL in Canadian children with hydrocephalus, using a comprehensive model of determinants of child health, including socioeconomic factors

Canada

Cross-sectional

Children with hydrocephalus

Hydrocephalus aetiology

Myelomeningocele: 33%

Intraventricular haemorrhage of prematurity: 9%

Aqueductal stenosis: 10%

Post-infection: 4%

Posterior fossa cyst: 5%

Not stated: 39%

n = 340

Mean 11 yrs. (±3.6)

Gender distribution not stated

Kulkarni et al. (2008) [43]

To investigate the feasibility and scientific properties of a child-completed version of the HOQ (cHOQ)

Canada

Cross-sectional

Children with hydrocephalus

Hydrocephalus aetiology

Myelomeningocele: 34%

Intraventricular haemorrhage of prematurity: 11%

Aqueductal stenosis: 10%

Post-infection: 4%

Congenital communicating: 3%

Intracranial cyst: 8%

Other: 30%

n = 273

Mean 14 yrs. (±2.6)

47% female / 54% male

Landfeldt et al. (2016) [44]

To estimate HRQoL in patients with Duchenne muscular dystrophy

Multinational (Germany, Italy, UK, USA)

Cross-sectional

Children and adolescents with Duchenne muscular dystrophy

Ambulatory status

Early ambulatory (5-7 yrs): 20%

Late ambulatory (8-11 yrs): 33%

Early non-ambulatory (12-15 yrs): 20%

Late non-ambulatory (≥16 yrs): 27%

n = 770

Mean 14 yrs. (±7.0)

100% male

Lindquist et al. (2014) [45]

To analyse quality of life in a very long-term follow-up of now adult individuals, treated for hydrocephalus (without spina bifida) during their first year of life

Sweden

Cross-sectional

Adults who experienced hydrocephalus in infancy

31% of study group

diagnosed with cerebral palsy and/or epilepsy; hydrocephalus aetiologies not reported

n = 29 study group

n = 1613 control group

Study group

Mean 34 yrs. (range 30–41)

38% female / 62% male

Control group

Matched age and gender to case group

Livingston and Rosenbaum (2008) [46]

To assess the stability of measurement of quality of life and HRQoL over the course of 1 year among adolescents with cerebral palsy

Canada

Prospective cohort

Adolescents with cerebral palsy

GMFCS level

GMFCS I: 30%

GMFCS II: 16%

GMFCS III: 15%

GMFCS IV: 25%

GMFCS V: 15%

n = 185

Mean 16 yrs. (±1.75; range 13–20)

47% female / 54% male

Lopez-Bastida et al. (2017) [47]

To determine the economic burden and health-related quality of life of patients with spinal muscular atrophy and their caregivers in Spain

Spain

Cross-sectional

Children with spinal muscular atrophy

Spinal muscular atrophy type

Type I: 10%

Type II: 74%

Type III: 16%

n = 81

Mean 7 yrs. (±5.47)

58% female / 42% male

Morrow et al. (2011) [48]

To evaluate differences between children’s, parents’ and doctors’ perceptions of health states and HRQoL in children with chronic illness and explore factors which explain these differences

Australia

Cross-sectional

Children with chronic conditions (relevant condition: cerebral palsy)

All participants in cerebral palsy sub-group were categorised as GMFCS level V

Cerebral palsy sub-group

n = 1 child-parent pair

n = 1 child-doctor pair

n = 11 parent-doctor pairs

Cerebral palsy sub-group

36% aged > 12 yrs.

Gender distribution not reported

Penner et al. (2013) [49]

To determine the impact of pain on activities and to identify the common physician-identified causes of pain in children and youth aged 3 to 19 years across all levels of severity of cerebral palsy

Canada

Cross-sectional

Children and adolescents with cerebral palsy

GMFCS level

GMFCS I: 24%

GMFCS II: 13%

GMFCS III: 21%

GMFCS IV: 19%

GMFCS V: 23%

n = 252

Mean 9 yrs. (±4.2; range 3–19)

36% female / 64% male

Perez Sousa et al. (2017) [50]

To analyse the level of agreement between children with cerebral palsy and their parents, using the EQ-5D-Y questionnaire and its proxy version

Spain

Cross-sectional

Children and adolescents with cerebral palsy

Functional classification

Grade 1 (without activity limitation): 66%

Grade 2 (mild or moderate activity limitation): 34%

n = 62

Mean 10 yrs. (±2.3; range 6–17)

44% female / 56% male

Petrou and Kupek (2009) [51]

To augment previous catalogues of preference-based HRQoL weights by estimating preference-based HUI3 multiattribute utility scores associated with a wide range of childhood conditions

UK

Cross-sectional

Children with childhood conditions (relevant conditions: microcephaly, cerebral palsy, spinal muscular atrophy, muscular dystrophy, spina bifida)

Not stated

Relevant sub-groups

Microcephaly n = 40

Cerebral palsy n = 178

Muscular dystrophy or spinal muscular atrophy n = 45

Spina bifida n = 42

Relevant sub-groups

Microcephaly: mean 11 yrs.

Cerebral palsy: mean 11 yrs.

Muscular dystrophy or spinal muscular atrophy: mean 12 yrs.

Spina bifida: mean 13 yrs.

Gender distribution per sub-group not reported

Rocque et al. (2015) [52]

To characterise the quality of life of paediatric patients with spina bifida, and to analyse factors that influence HRQoL and aid in the determination of whether a correlation exists between various disease and/or personal characteristics and HRQoL scores

USA

Cross-sectional

Children and adolescents with spina bifida

Underlying diagnosis

Myelomeningocele: 79%

Lipomyelomeningocele: 16%

Meningocele: 3%

Filum terminale-related pathology: 2%

Sacral agenesis: > 1%

n = 159

Mean 12 yrs. (range 5–20)

57% female / 43% male

Rosenbaum et al. (2007) [53]

To report self- and proxy-assessed quality of life along with parental accounts of HRQoL of a cohort of adolescents with cerebral palsy participating in a longitudinal study charting mobility and self-care through the adolescent years

Canada

Prospective cohort

Adolescents with cerebral palsy

GMFCS level

GMFCS I: 30%

GMFCS II: 16%

GMFCS III: 14%

GMFCS IV: 25%

GMFCS V: 16%

n = 203

Mean 16 yrs. (±1.75; range 13–20)

45% female / 55% male

Sims-Williams et al. (2017) [54]

To ascertain the quality of life of surviving children with spina bifida and to determine whether this was influenced by mobility, urinary continence, hydrocephalus, sex, family size and school attendance

Uganda

Cross-sectional

Children with spina bifida

45% of sample had comorbid hydrocephalus

Walking ability

Unable to walk: 47%

Walk with sticks/crutches: 14%

Walk unaided: 39%

n = 66 (63 of which completed HUI3)

Range 10-14 yrs.

44% female / 56% male

Slaman et al. (2015) [55]

To evaluate the cost-utility of a lifestyle interventions among adolescents and young adults with cerebral palsy

The Netherlands

Randomised controlled trial (single-blind)

Adolescents and young adults with cerebral palsy

Intervention group GMFCS level

GMFCS I: 61%

GMFCS II: 32%

GMFCS III: 7%

GMFCS IV: 0%

Control group GMFCS level

GMFCS I: 55%

GMFCS II: 31%

GMFCS III: 10%

GMFCS IV: 4%

n = 20 intervention group

n = 20 control group

Intervention group

Mean 20 yrs. (±3.0)

57% female / 43% male

Control group

Mean 20 yrs. (±3.0)

48% female / 52% male

Tilford et al. (2005) [56]

To provide information on the preference scores of children with spina bifida aperta and to measure the impact of caring for a child with spina bifida consistent with economic evaluations

USA

Case-control

Children with spina bifida

Case group lesion level

Sacral: 42%

Lower lumbar: 34%

Thoracic: 25%

n = 80 case group

n = 30 general population control group

Case group

Mean 9 yrs. (±4.6)

61% female / 39% male

General population control group

Mean 7 yrs. (±4.0)

55% female / 45% male

Usuba et al. (2014) [57]

To explore the magnitude and timing of changes in gross motor function and HRQoL among persons with cerebral palsy over an 8-year period, with specific interest in comparing those who made the transition to adult services

Canada

Prospective cohort

Adolescents and adults with cerebral palsy

GMFCS level (full sample)

GMFCS I: 22%

GMFCS II: 13%

GMFCS III: 13%

GMFCS IV: 22%

GMFCS V: 30%

n = 31 ‘younger adults’ group

n = 23 ‘older adults’ group

‘Younger adults’ group

Mean 15 yrs. (range 13–17)

‘Older adults’ group

Mean 26 yrs. (range 23–32)

Full sample

46% female / 54% male

Vitale et al. (2001) [58]

To examine whether the SF-36 and EQ-5D would be useful for evaluating quality of life in adolescents with orthopaedic conditions

USA

Cross-sectional

Adolescents with orthopaedic problems (relevant condition: cerebral palsy)

Not stated

n = 14 cerebral palsy sub-group

Cerebral palsy sub-group age data not reported (full sample: mean 14 yrs. [range 10–18])

Gender distribution not reported

Wallander et al. (2009) [59]

To review a group of patients over 60 years of age who had been treated for congenital talipes equinus varus (CTEV) in infancy, using generic instruments for the assessment of quality of life in general and a specific foot and ankle instrument for assessment of function

Sweden

Cross-sectional

Adults treated for CTEV in infancy

Clubfoot laterality

Unilateral: 54%

Bilateral: 46%

n = 83

Mean 64 yrs. (range 62–67)

24% female / 76% male

Young et al. (2010) [22]

To describe the health and quality of life outcomes of youth and young adults with cerebral palsy, and to explore the impact of 3 factors (cerebral palsy severity, age and sex) on quality of life outcomes

Canada

Cross-sectional

Adolescents and young adults with cerebral palsy

‘Youth’ group GMFCS level

GMFCS I: 22%

GMFCS II: 12%

GMFCS III: 18%

GMFCS IV: 25%

GMFCS V: 22%

‘Adult’ group GMFCS level

GMFCS I: 23%

GMFCS II: 14%

GMFCS III: 19%

GMFCS IV: 25%

GMFCS V: 20%

n = 129 ‘youth’ group

n = 70 ‘adult’ group

‘Youth’ group

Mean 15 yrs. (±1.36)

45% female / 55% male

‘Adult’ group

Mean 26 yrs. (±2.63)

40% female / 60% male

Young et al. (2013) [21]

To describe the health and HRQoL outcomes of youths and young adults with spina bifida

Canada

Cross-sectional

Adolescents and young adults with spina bifida

‘Youth’ group lesion levelThoracic: 25%

High-lumbar: 18%

Low-lumbar: 30%

Sacral: 28%

‘Adult’ group lesion level

Thoracic: 15%

High-lumbar: 23%

Low-lumbar: 31%

Sacral: 15%

Unknown: 15%

n = 40 ‘youth’ group

n = 13 ‘adult’ group

‘Youth’ groupMean 16 yrs. (±1.3; range 13–17)65% female / 35% male

‘Adult’ group

Mean 26 yrs. (±3.10; range 23–32)

77% female / 23% male