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Table 1 Summary of n = 15 included studies using quantitative psychosocial outcome measures

From: Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs

Study

Country

Study design

Recruitment

Sample caregivers

Sample children and adolescents

Psychosocial outcomes (instruments)

Main results for psychosocial outcomes

Acar et al. [29]

Turkey

Cross-sectional, self-report paper–pencil questionnaire

July 2019–

December 2019, clinic

N = 34

Sex: 68% female

Age: M = 39.4 (range = 20–58)

Family status: 100% married

Employment: 15% of mothers were working; 97% of fathers provided a living

Comparison group: none

N = 34

Sex: 74% male

Age: M = 7.6 (SD = 6.2)

SMA type: I = 38%, II = 38%, III = 24%

Medication: NR

Comparison group: none

Family needs (Family Needs Assessment Tool, FNAT),

caregiver burden (Zarit Burden Interview, ZBI)

Family needs:

Information was the most common requirement (66%), followed by financial need (46%), general support and social service (36%), and environmental disclosure (29%).

Caregiver burden:

3% of caregivers with overload, 27% with medium/high load,

65% with light/medium load, 6% with no/little load.

Moderate correlation (r = 0.57; p < 0.001) between caregiver burden and family needs.

Aranda-Reneo et al. [15]a

Spain, France,

Germany, UK

Cross-sectional, self-report online-survey

July 2015–November 2015, patient organisations

N = 68 (40% Spain, 16% UK, 21% Germany, 24% France)

Sex: 82% female

Age: M = 39.9 (SD = 9.1)

Family status: 70% married/cohabiting

Employment: 60% (self-employed)

Comparison groups: countries, SMA subtypes

N = 68

Sex: 53% female

Age: M = 7.0 (SD = 5.2)

SMA type: I = 16%, II = 62%, III = 22%

Medication: NR

Comparison groups: countries, SMA subtypes

Caregiver time,

caregiver burden (Zarit Burden Interview, ZBI)

Caregiver time:

M = 10.0 h (SD = 6.7) of care per day (the principal caregiver provided 6.9 h, SD = 4.6).

Parents of children and adolescents with type I had a 36.3 point higher likelihood (p < 0.05) of providing > 10 h of daily care compared to parents of type III patients.

Patients from the UK and Germany required the most time, with M = 12.5 and M = 10.6 daily hours of care.

Caregiver burden:

Total ZBI mean = 31.9 (SD = 16.5) indicating light/medium load.

No significant association was found between caregiver burden and type of SMA.

Bach et al. [30]

USA

Cross-sectional study, self-report paper–pencil questionnaire

1996–

September 2001, clinic

N = 84 (out of a total sample of 104 including parents of healthy controls and professional caregivers)

Sex: 63% female (of parents)

Age: NR

Family status: NR

Employment: NR

Comparison group: parents of healthy children and adolescents (n = 30)

N = 46

Sex: NR

Age: M = 3.0 (SD = 2.9)

SMA type: I = 100%

Medication: NR

Comparison group: healthy children and adolescents (n = 30, mean age = 2.4)

Quality of life,

effort to care for child, caregiver burden,

semantic scales on how to live with affected children and adolescents (self-developed likert scales (1–10, 1–7))

Quality of life/effort/caregiver burden:

All caregivers (incl. parents) found life with the children and adolescents to be satisfying, interesting, friendly, enjoyable, worthwhile, full, hopeful, rewarding, and estimated the children and adolescents to be happy and their lives worth living.

66% felt that their lives were rather hard than easy, and 54% reported feeling rather tied down than free.

The effort of raising children and adolescents with SMA was higher compared to parents with unaffected children and adolescents.

The burden of raising children and adolescents with SMA was not higher compared to healthy children and adolescents.

Chambers et al. [31]

Australia

Cross-sectional study, self-report paper–pencil questionnaire

2016–2017, clinic

N = 40

Sex: 92.5% female

Age: 50% between 30 and 39

Family status: NR

Employment: 50% part-time, 20% full-time, 30% unemployed

Comparison groups: SMA subtypes

N = 40

Sex: 53.2% female

Age: M = 9.38 (range = 1–22)

SMA type: I = 10%, II = 65%, III = 25%

Medication: NR

Comparison group: SMA subtypes

Indirect costs for families (self-developed),

caregiver quality of life (CarerQoL)

Indirect costs for families:

Informal care was used extensively, particularly for SMA I and SMA II.

Informal care was estimated with $33,000 per year, plus $39,000 per year in loss of income.

Loss of income and unpaid informal care made up 24.2% and 19.8% of annual SMA healthcare costs.

Caregiver quality of life:

Most caregivers reported some/a lot of problems with at least one dimension of health, e.g., problems with own mental (84%) or physical health (78%).

78% of caregivers reported having financial problems because of care tasks.

Caregiver VAS score was M = 6.1 (0 for worst well-being state and 10 for best well-being state).

Cremers et al. [32]

Netherlands

Cross-sectional study, self-report digital and paper–pencil questionnaire

December 2014–

October 2015, registry and clinic

N = 38

Sex: 100% female

Age: M = 39.7 (SD = 6.7)

Family status: NR

Employment: NR

Comparison group: mothers of adult SMA patients (n = 10)

N = 38

Sex: 55.3% male

Age: M = 8.9 (SD = 5.1)

SMA type: I = 11%, II = 71%, III = 18%

Medication: no

Comparison group: adult patients with SMA (n = 10)

Caregiver burden (Caregiver Strain Index, CSI),

depression and anxiety symptoms (Hospital Anxiety and Depression Scale, HADS),

participation in vocational and leisure activities (Utrecht Scale of Rehabilitation-Participation, USER-P)

Caregiver burden:

The majority of mothers of affected children and adolescents (73%) perceived high levels of caregiver burden.

No significant differences were found between mothers of affected children and adolescents (M = 8.2, SD = 2.7), and adults (M = 7.8, SD = 2.7).

Mothers often reported suffering from disturbed sleep and that caring was physically demanding and time-consuming.

Psychological and financial consequences were reported by 1/3 of all mothers.  

Depression and anxiety symptoms:

53% of mothers with affected children and adolescents showed high depressive and anxiety symptoms (M = 13.8, SD = 8.1).

Mothers of affected children and adolescents generally had higher scores, but differences were not significant.

Satisfaction:

Mothers of all patients with SMA were satisfied or very satisfied with their activities.

No significant differences were found between mothers of affected children and adolescents, and adults with SMA.

Multivariate analysis identified the frequency of participation in social/leisure activities as a significant predictor for caregiver burden, depression and anxiety symptoms, and satisfaction.

Ho et al. [33]

China

Cross-sectional study, self-report paper–pencil questionnaire

July 2016–March 2018, clinic

N = 12

Sex: NR

Age: NR

Family status: NR

Employment: NR

Comparison group: parents of children and adolescents with other neuromuscular disorders (n = 68)

N = 12

Sex: NR

Age: M = 6.0 (range = 1–17)

SMA subtypes: NR

Medication: NR

Comparison group: children and adolescents with other neuromuscular disorders (n = 68)

Health-related quality of life and family functioning (PedsQLâ„¢ Family Impact Module, FIM),

parental stress (Parental Stress Scale, PSS)

Health-related quality of life/family functioning:

Parents of children and adolescents with SMA reported lowest total PedsQL™FIM total scores (M = 58.2, SD = 16.8), parental quality of life (M = 49.8, SD = 23.6) and family functioning scores (M = 44.5, SD = 19.0) than other disease groups (all p < 0.01).

PedsQL™FIM total score of the SMA cohort was worse than scores of patients with acquired brain injuries (0 for worst and 100 for best score).

Parental stress:

Parents of children and adolescents of all disease groups with a higher level of stress reported a significantly lower quality of life and poorer family functioning than those with lower levels of stress.

36.6% of all parents were in the high stress group.

Moderate negative correlation with PedsQL™FIM total score (r = - 0.55).

Kariyawasam et al. [41]

Australia

Mixed method longitudinal study, 2 time points (baseline, 6 months),

self-report paper–pencil

August 2018–July 2020,

clinic

N = 29

Sex: 59% female

Age: M = 31.0 (SD = 8.1)

Family status: NR

Employment: NR

Comparison group: different time points (pre-post)

N = 18

Sex: 56% female

Age: NR (newborns)

SMA subtypes: NR

Medication: nusinersen, Zolgensma® or risdiplam = 77%

Comparison group: different time points (pre-post)

Caregiver quality of life (CarerQoL)

Caregiver quality of life:

Although the screen-positive result for SMA was distressing for all parents, quality of life improved over time.

CarerQoL baseline median score = 4 (SD = 1.4) versus 6-month median score = 8 (SD = 1.3, p < 0.001).

La Foresta et al. [34]

Italy

Longitudinal study, 3 time points (before 1st and 4th lumbar puncture (LP)), self-report paper–pencil questionnaire

December 2016 (start), clinic

N = 14

Sex: 93% female

Age: NR

Family status: NR

Employment: NR

Comparison group: different time points (pre-post)

N = 16

Sex: 69% male

Age: 50% between 1 and 10 (range = 0.16–14)

SMA subtypes: I = 100%

Medication: nusinersen = 100%

Comparison group: different time points (pre-post)

State anxiety (State-Trait Anxiety Inventory for adults, STAI)

State anxiety:

2 h before the 1st lumbar puncture (LP), mild anxiety levels were found in caregivers.

Preoperative anxiety had increased significantly (p < 0.001) at the 4th LP, but significantly decreased after implementation of a self-developed psychological intervention at the 5th LP (p < 0.03).

López-Bastida et al. [16]a

Spain

Cross-sectional study, self-report online questionnaire

July 2015—November 2015, patient organisations

N = 81

Sex: 44% female, 9% male (else not reported)

Age: M = 40.3 (SD = 7.3)

Family Status: NR

Employment: 31% employed, 20% housewife/-husband (else not reported)

Comparison group: SMA subtypes

N = 81

Sex: 58% female

Age: M = 7.2 (SD = 5.5)

SMA subtypes: I = 10%, II = 74%, III = 16%

Medication: NR

Comparison group: SMA subtypes

Caregiver time (health-related quality of life (EQ-5D),

caregiver burden (Zarit Burden Interview, ZBI)

Caregiver time:

Average of 8.22 h per day.

Costs:

Average annual cost associated with SMA reached € 33,721 (SD = 38,700) in Spain.

Family caregiver costs represented largest component of direct non-healthcare costs with € 21,127 (62.7% of the total cost of the disease in Spain).

All costs were significantly higher for families of type II patients.

Health-related quality of life:

Mean EQ-5D index score = 0.48 (SD = 0.47; 0 health state equivalent to death and 1 state of full health).

Mean EQ-5D VAS score = 69.1 (SD = 21.2; 0 worst imaginable health and 100 best imaginable health).

Parents had lower quality of life means than general population (EQ-5D index score = 0.96).

Caregiver burden:

The average Zarit Burden Interview score was 35 (indicating mild to moderate burden).

McMillan et al. [35]

Canada

Cross-sectional study, self-report online questionnaire

January 2020–February 2021, patient organisations

N = 962

Sex: 57.6% female

Age: M = 35.0 (IQR: 31.2–39.2)

Family Status: NR

Employment: 37% part-time, 28% full-time; 15% no changes in work hours, 40% reduced working hours, 19% extra unpaid leave off work/give up their job completely

Comparison group: SMA subtypes

N = 962

Sex: NR

Age: M = 11.7 (SD = 16.5)

SMA type: I = 30%, II = 44%, III = 25%

Medication: NR

Comparison group: SMA subtypes

Health-related quality of life (EQ-5D),

caregiver time (self-developed),

caregiver burden (self-developed, Caregiver Strain Index, CSI)

Health-related quality of life:

65% had at least some degree of anxiety or depression, with higher percentages for parents in type I (74%) and II (69%) compared to type III (46%).

Mean EQ-5D index score = 0.8 (SD = 0.2; 0 health state equivalent to death and 1 state of full health).

Caregiver time:

main caregiver and 2 other people (IQR: 1–3) provided unpaid care

Median = 35 (IQR: 27–55) hours per week.

Caregiver burden:

31–63% reported physical/psychological impact on their health due to caregiving (e.g., anxiety/depressive symptoms)

CSI domains with the highest percentages: Changes in personal plans (77%), sleep being disturbed (71%), work adjustments (71%).

Overall mean CSI score = 7.5 (SD = 3.3) indicating high stress and burden.

Mean CSI score varied by the type of SMA: I = 6.8 (SD = 2.7), II = 8.1 (SD = 3.0), III = 7.3 (SD = 3.9).

Peña-Longobardo et al. [17]a

France,

Germany, UK

Cross-sectional study, self-report online questionnaire

July 2015–November 2015, patient organisations

N = 56 (20% UK, 48% France, 55% Germany)

Sex: 73% female

Age: M = 39.9 (SD = 10.4)

Family Status: NR

Employment: NR

Comparison group: countries

N = 86

Sex: NR

Age: M = 7.03 (SD = 5.7)

SMA type: I = 28%, II = 52%, III = 21%

Medication: NR

Comparison group: countries

Caregiver time,

costs (self-developed) health-related quality of life (EQ-5D),

caregiver burden (Zarit Burden Interview, ZBI)

Caregiver time:

M = 12.5 (UK), 9.3 (FR), 10.7 (GER) hours per day

Costs:

Annual average cost associated with SMA = €54,295 (UK), €32,042 (FR), €51,983 (GER).

Direct non-healthcare costs ranged between 79% and 86% of the total costs with informal care costs (by relatives) as main component.

Most of the economic impact falls on families in the form of time spent on care.

Health-related quality of life:

Mean EQ-5D index score: M = 0.9 (UK), 0.4 (FR), 0.8 (GER; 0 health state equivalent to death and 1 state of full health)

EQ-5D VAS score: M = 80 (UK), 62 (FR), 72 (GER; 0 worst imaginable health and 100 best imaginable health)

Caregiver burden:

Zarit Burden Interview score: M = 37 (UK), 21 (GER), 40 (FR), ranging from 0% mild to moderate burden (UK, GER) to 13% (FR) risk of burnout.

von Gontard et al. [36]b

Germany

Cross-sectional study, self-report paper–pencil questionnaire

1985 (start), clinic, patient organisations

N = 96 caregiver

Sex: NR

Age: NR

Family Status: NR

Employment: NR

Comparison group: parents of healty controls (n = 59)

N = 96 children and adolescents

Sex: 51% female

Age: M = 11.2 (range = 6– 18)

SMA type: I = 19%, II = 60%, III = 21%

Medication: NR

Comparison group: healthy controls (n = 59)

Parental stress (Questionnaire on Resources and Stress, QRS),

social support (Fragebogen zur sozialen Unterstützung, F-SOZU), coping (Family Crisis Orientated Personal Evaluation Scale, F-COPES)

Parental stress:

Significant differences (p < 0.001) between parents of SMA patients (M = 16.3, SD = 7.5) and healthy controls (M = 5.7, SD = 4.5).

Families with type I and II patients are significantly more stressed than those with type III (p < 0.01–0.001).

The greatest percentage of variance contributing to stress could be explained by the lack of social support, degree of disability and behavioral problems in the child.

Social support:

The degree of social support was significantly lower (p < 0.01) in SMA families (M = 4.1, SD = 0.7) compared to controls (M = 4.4, SD = 0.6).

Coping:

The coping abilities of SMA families did not differ from healthy controls on the total score or subscales of the F-COPES questionnaire.

von Gontard et al. [37]b

Germany

Cross-sectional study, self-report paper–pencil questionnaire

1985 (start), clinic, patient organisations

N = 46

Sex: NR

Age: NR

Family status: NR

Employment: NR

Comparison group: parents of children and adolescents with parents with fragile X syndrome (FXS) (n = 49), parents of healthy controls (n = 32)

N = 46

Sex: 100% male

Age: M = 12.7 (range = 6.2— 18.1)

SMA type: I = 20%, II = 52%, III = 28%

Medication: NR

Comparison group: children and adolescents with FXS (n = 49), healthy controls (n = 32)

Social support (Fragebogen zur sozialen Unterstützung, F-SOZU),

parental stress (Questionnaire on Resources and Stress, QRS),

coping (Family Crisis Orientated Personal Evaluation Scale, F-COPES)

Parental stress:

Parental stress was significantly higher (p < 0.001) in FXS (M = 20.0, SD = 8.8) than in SMA families (M = 15.7, SD = 7.6) and in both compared to controls (M = 6.5, SD = 5.5).

Social support:

No inter-group differences were found regarding social support, indicating equal resources in the social network.

Coping:

No inter-group differences were found in the abilities of families to cope with their situation.

No inter-group differences were found regarding familialcoping (F-COPES), except ‘mobilizing external help’ scores, which are significantly higher in the FXS than in the SMA families.

High stress does not affect the SMA families’ coping abilities as much as the FXS families’. In all groups the degree of social support is lower in families with high stress, and higher when the burden is perceived to be lower.

Weaver et al. [38]c

USA

Longitudinal, 2 time points, self-report digital questionnaire

November 2016–September 2019, clinic

N = 35

Sex: NR

Age: NR

Family Status: NR

Employment: NR

Comparison groups: medical intervention (cohorts 1–4), subtypes

N = 35

Sex: NR

Age: M = 8.0 (SD = 3.6) and M = 1.8 (SD = 0.5) years between surveys

SMA type: I = 43%, II = 40%, III = 17%

Medication: partly nusinersen (cohorts 2–4, 62%)

Comparison groups: cohort 1 = non-treatment control, 2 = not started nusinersen, 3 = loading phase of nusinsersen, 4 = maintenance phase (cohorts 2–4 on maintenance dosing at time of the final survey), subtypes, different time points (pre-post)

Quality of life (PedsQLâ„¢ Family Impact Module, FIM)

Quality of life:

No significant differences were found between initial and final surveys for family impact, when analyzed as a whole cross-sectional clinical population (pooling cohorts 2–4).

In type II, the PedsQL™ FIM total score M (t1) = 59.2 (SD = 21.2) to M (t2) = 64.2 (SD = 21.8, p = 0.081) trended towards significance.

In cohort 4 (maintenance dosing) significant improvements in PedsQL™FIM total score = M (t1) = 45.7 (SD = 13.0) to M (t2) = 52.6 (SD = 26.1; p = 0.03) were found.

In type I, with M (t1) = 45.0 (SD = 12.7) to M (t2) = 50.8 (SD = 12.6; p = 0.05) and cohort 4 (maintenance dosing) with M (t1) = 44.5 (SD = 16.1) to M (t2) = 57.9 (SD = 23.2, p = 0.06) increases in the worry domain also trended toward significance (0 for worst and 100 for best score).

Weaver et al. [39]c

USA

Cross-sectional study, self-report digital questionnaire

November 2016–September 2019, clinic

N = 58

Sex: NR

Age: NR

Family Status: NR

Employment: NR

Comparison groups: subtypes, medical intervention

N = 58

Sex: 56.9% female

Age: M = 6.1 (range = 0.3—0.2)

SMA type: I = 45%, II = 40%, III = 16%

Medication: nusinersen = 38%

Comparison groups: subtypes, medical intervention

Quality of life (PedsQLâ„¢ Family Impact Module, FIM)

Quality of life:

Significant differences were found between types I and II in the PedsQL™ FIM total score, parental health-related quality of life and family functioning (p < 0.03), indicating lower quality of life for parents of children with type I SMA.

The PedsQL™ FIM total score and parental quality of life were higher for families of children not receiving nusinersen.

Spinal surgery was associated with improved parental quality of life and family impact (p < 0.03; 0 for worst and 100 for best score).

Yao et al. [40]

China

Cross-sectional study, self-report online

March 2020, clinic

N = 101

Sex: NR

Age: NR

Family Status: NR

Employment: NR

Comparison groups: subtypes, medical intervention

N = 101

Sex: 51.5% female

Age: M = 7.2 (range = 0.5–16.2)

SMA type: I = 26%, II = 55%, III = 19%

Medication: nusinersen = 9% Comparison groups: subtypes, medical intervention

Quality of life (PedsQLâ„¢ Family Impact Module, FIM)

Quality of life:

Parents of children and adolescents with type III reported higher average scores in domains of physical, emotional, social, and cognitive functioning than those of children and adolescents with types I or II SMA (p < 0.05).

Disease-related characteristics (e.g., limited mobility, stable course of disease, skeleton deformity, and digestive system dysfunction) and respiratory support were associated with lower average PedsQL™ FIM total scores (p < 0.05).

Exercise training, multidisciplinary team management, and use of nusinersen were each associated with higher average PedsQL™ FIM total scores (p < 0.05; 0 for worst and 100 for best score).

  1. IQR Interquartile range
  2. a,b,cStudies with the same letter used parts of the same study samples