Sociodemographic and disease-related characteristics
Sociodemographic data and disease-related characteristics are presented in Table 1. Of the 149 participants included, 65 (43.6%) completed the questionnaire during the first COVID-19 wave in Germany (weeks 10 to 20 of 2020), and 84 (56.4%) during the following interim phase over the summer with fewer cases (weeks 21 to 39 of 2020). Data of the 16 dropouts during the survey were missing for part of the demographic variables, leading to a derogated N = 133, whenever noted. Participants were mostly mothers (83.2%) caring for collectively 167 children with a secured (89.8%) or probable (10.2%) diagnosis of an RD. The mean age of participants was 43.1 years (SD = 8.83, N = 133), ranging from 16–67 years. All participants were living in Germany (N = 133), most were married or living in partnership (84.2%, N = 133), and their level of education was predominantly high (48.1% university degree or higher, N = 133).
Table 1 Sociodemographic and disease-related characteristics of the study sample
Characteristics
|
n
|
%
|
Relation of caregiver to the child with RD
|
|
|
Mother
|
124
|
83.2
|
Father
|
21
|
14.1
|
Foster mother
|
1
|
0.7
|
Grandmother
|
1
|
0.7
|
Brother
|
2
|
1.3
|
Marital status of caregiver a
|
|
|
Single/divorced/widowed
|
21
|
15.8
|
Married/partnered
|
112
|
84.2
|
Number of children with RD in the family
|
|
|
1
|
133
|
89.3
|
2
|
15
|
10.1
|
3
|
0
|
0
|
4
|
1
|
0.7
|
Siblings without RD living in the household
|
|
|
0
|
62
|
41.6
|
1
|
65
|
43.6
|
2
|
17
|
11.4
|
3
|
5
|
3.4
|
Highest educational level of caregiver a
|
|
|
Basic school qualification (usually 9 years of High School)
|
5
|
3.8
|
Intermediate school qualification (10 years of High School)
|
28
|
21.1
|
Higher education entrance qualification (12–13 years of High School)
|
36
|
27.1
|
University degree or higher
|
64
|
48.1
|
Treatment of at least one of the children with RD per family b
|
|
|
Outpatient treatment in the last year
|
133
|
89.3
|
Outpatient treatment in the last two weeks
|
49
|
32.9
|
Inpatient treatment in the last year
|
82
|
55.0
|
Inpatient treatment in the last two weeks
|
8
|
5.4
|
Functional impairments of the children with RD c
|
|
|
Physical/ motor function only
|
20
|
12.0
|
Mental development only
|
2
|
1.20
|
Social functioning only
|
8
|
4.80
|
Physical/ motor function plus mental development
|
8
|
4.80
|
Physical/ motor function plus social functioning
|
19
|
11.4
|
Mental development plus social functioning
|
13
|
7.80
|
Impairment in all three domains
|
59
|
35.3
|
Note. RD: rare disease. N = 149. Caregivers were on average 43.1 years old (SD = 8.83, N = 133).
a derogated N = 133 due to dropouts during the survey. b Reflects the number and percentage of participants answering “yes”. c N = 167 children with RDs that were on average 10.4 years old (SD = 7.99); reflects the number and percentage of respective nested “yes” answers.
|
On average, there were 1.12 children (SD = 0.38, Mdn = 1, IQR = 1–1) with an RD per family, most participants had only one child with an RD in their family (89.3%). In 59.7% of the families, at least one sibling without RD was living in the household. The mean age of the children with RD was 10.4 years (SD = 8.00, Mdn = 9, IQR = 4–16, N = 167), ranging from 0–47 years with a vast majority being up to 21 years old (92.2%). In the 136 families that already received a diagnosis, the average time since diagnosis was 7.11 years (SD = 6.93, Mdn = 4.71, IQR = 2.17–11.04), ranging from 0.34–46.7 years. On average, the family’s (oldest) child with an RD was 3.99 years old (SD = 5.41, Mdn = 2.75, IQR = 0–6) when the family first received an RD diagnosis. A vast majority of the children (91.3%) were in (in- or outpatient) treatment within the last year. Of the 167 children, 129 (77.2%) suffered from functional impairment in at least one of the queried domains physical/motor function (63.5%), mental development (49.1%), social functioning (59.3%). In total, 18.0% were impaired in only one domain, 24.0% in two domains, and 35.3% in all three domains.
Caregiver distress
The descriptive statistics of the DT-P (thermometer score, problem domain scores, item scores) are presented in Table 2. The caregivers’ mean thermometer score was 6.84 (SD = 2.43, N = 134). Clinical distress (score ≥4) was reported by 89.6% of the caregivers.
Table 2 Distress thermometer score, problem domain scores, and item scores of the caregivers
Thermometer score (overall distress) a, M (SD)
Mdn (IQR)
Clinical distress (DT ≥4), %
Total problem score, M (SD, range)
|
6.84 (2.43)
8 (5.75–8)
89.6
17.4 (8.51, 0–36)
|
Practical problems, M (SD, range)
Housing, %
Work/study, %
Finances/insurance, %
Housekeeping, %
Transport, %
Child care/child supervision, %
Leisure activities/relaxing, %
|
1.82 (1.30, 0–5)
22.8
52.3
24.8
46.3
19.5
52.3
55.7
|
Physical problems, M (SD, range)
Eating/appetite, %
Weight, %
Sleep, %
Fatigue, %
Out of shape/condition, %
Pain, %
Sexuality, %
|
3.88 (1.97, 0–7)
30.2
51.0
63.8
75.8
67.1
39.6
26.8
|
Family/social problems, M (SD, range)
Dealing with (ex)partner, %
Dealing with family, %
Dealing with friends, %
Interacting with your child(ren), %
|
1.54 (1.30, 0–4)
36.9
33.6
24.2
43.6
|
Cognitive problems, M (SD, range)
Concentration, %
Memory, %
|
0.99 (0.89, 0–2)
48.3
41.6
|
Emotional problems, M (SD, range)
Controlling emotions, %
Self-confidence, %
Fears, %
Depression, %
Feeling tense or nervous, %
Loneliness, %
Feelings of guilt, %
Use of substances (e.g., alcohol, drugs, and/or medication), %
Intrusive/recurrent thoughts about a specific event, %
Grief b, %
Worry b, %
Stigma b, %
|
5.40 (3.16, 0–11)
51.7
40.3
60.4
27.5
65.8
38.3
34.2
7.4
34.2
45.6
69.8
17.4
|
Parenting problems, M (SD, range)
Dealing with your child, %
Dealing with the feelings of your child, %
Talking about the disease/ consequences with your child, %
Independence of your child, %
Following advice about treatment/giving medication, %
Feeling connected with your child, %
Your child’s sleeping, %
|
2.60 (1.84, 0–7)
37.6
49.7
30.9
50.3
19.5
13.4
35.6
|
Note. N = 136. Distress was measured with the Distress Thermometer for parents (DT-P), range = 0–10, with higher scores = more distress.
a Reduced N = 134; median (Mdn) and interquartile range (IQR) are reported because the distribution of thermometer scores was left-skewed (skewness = −1.06, SE = 0.21). b Items added to the original DT-P.
|
The thermometer score was strongly related to the total problem score (r = .68) and to the domain scores of emotional (r = .61) and parenting problems (r = .52). The domain scores of practical (r = .43), physical (r = .48), social/family (r = .47), and cognitive problems (r = .42) were moderately correlated to the thermometer score. All correlations were statistically significant (p’s < .001).
The most frequent problems (> 60%) in the current sample were sleep problems, fatigue, being out of shape, fears, feeling tense or nervous, and worry.
Psychosocial information needs of the caregivers
Figure 1 presents the caregivers’ average psychosocial information need scores (overall and domain-specific transformed sum scores, range 0–100). The overall information need across all items averaged 69.8 (SD = 17.4, N = 149). Information needs were highest for the domain navigating the health care system, followed by the domains psychosocial strain in the family, further support offerings, and strengthen yourself to be strong for others.
Descriptive statistics of the caregivers’ psychosocial information needs on item level are presented in [Additional file 3]. Average scores (Likert scaled from 1–5) ranged between 2.93–4.49 in the domain navigating the health care system (“Information about palliative and hospice medicine” and “Information about special rehabilitation measures”, respectively); between 3.33–4.11 in the domain psychosocial strain in the family (“Information about how I can deal better with partnership problems” and “Information about how I can cope with emotional strain”, respectively); between 3.5–4.07 in the domain further support offerings ( “Information about holiday care options for the child” and “Information about support options in everyday life”, respectively); and between 2.93–3.67 in the domain strengthen yourself to be strong for others (“Information about how I can improve my health behavior” and “Information about how I can strengthen siblings”, respectively). Average scores for naturally formed sub-samples reached up to 4.77 (“Information about support options without a secured diagnosis” for caregivers of children without a diagnosis). Overall, 34.9% of the items had mean scores above 4; 44.2% between 3.50–4; 16.3% between 3–3.49, and only two of the 43 items (4.7%) reached mean scores below 3. Items of specific concern (receiving the most ratings of 4 or 5) regarded “Information about special rehabilitation measures”; “Information in the form of a compilation of further support options”; “Information about benefits within the framework of the federal participation act”; “Information about which services are covered in which case by health and/or nursing care insurance”; and “Information about financial aids in connection with the child’s disease”. The standard deviation of mean scores on item level varied between 0.91 (0.60 for sub-samples analyses) and 1.51.
Only four participants out of 140 (2.9%) affirmed knowing helpful webpages on the subject of psychosocial burden, whereas 136 (97.1%) negated.
Health-related quality of life in children with rare diseases
In total, 107 caregivers completed the short version of the DISABKIDS chronic generic measure (DCGM-12 proxy) for their oldest child with RD above the age of four years. Of those, 71 completed the two questions on medication. The mean age of the respective children was 12.7 years (SD = 7.71, Mdn = 10.0, IQR = 6–17), ranging from 4–47 years. Average HRQoL scores in the current sample were M = 58.7 (SD = 19.5, N = 107) for the DCGM-12 score (i.e., including medication items if applicable) and M = 57.6 (SD = 21.4, N = 107) for the DCGM-10 score (i.e., excluding medication items for all participants). Children without medication reached higher HRQoL scores than children with medication (M = 70.3, SD = 16.4, N = 36 vs. M = 52.8, SD = 18.3, N = 71), t(105) = 4.85, p < .001, d = 0.99.
The average HRQoL score of the current sample was lower than that of the total DISABKIDS field study sample [51] (M = 74.6, SD = 17.0, N = 660, p < .001, d = 0.92), and that of the DISABKIDS field study sub-samples including children and adolescents with moderate conditions (M = 73.8, SD = 15.9, N = 260, p < .001, d = 0.89), and mild conditions (M = 77.9, SD = 16.3, N = 334, p < .001, d = 1.12), whereas the score was comparable to that of the DISABKIDS field study sub-sample of children and adolescents with severe clinical conditions (M = 61.4, SD = 18.0, N = 66, p = .369, d = 0.14). The T-scores in the current sample, determined by the standard deviation scale of the reference sample [51], ranged from 25.0–63.8 (only children without medication) and 22.1–60.5 (only children with medication). Overall, 49.5% of the children had a T-score < 40 (i.e., more than one SD below the respective reference) which was considered as low HRQoL (19.4% of the children without medication and 64.8% of the children with medication).
Exploratory analysis of the associations between caregiver distress, the children’s health-related quality of life, and information needs
An intercorrelation matrix including all study variables is presented in [Additional file 4]. Caregivers’ distress level was moderately to strongly associated with their overall psychosocial information need (r = .40, p < .001), their proxy-reported children’s HRQoL (r = −.46, p < .001), and physical- (rb = .30, p = .007), mental- (rb = .35, p = .001) and social impairments (rb = .52, p < .001) of their children. Beyond those, none of the remaining study variables [see Additional file 4] showed substantial associations with caregiver distress.
Further, caregivers’ psychosocial information need was moderately associated with social and physical impairments of their RD child, while there was a small, however non-significant, association with mental impairment of their child, and a small to moderate association with hospitalization of their child within the past year (physical: rb = .32, p = .003; mental: rb = .19, p = .061; social: rb = .25, p = .018; hospitalization: rb = .22, p = .03). Moreover, there was a small to moderate correlation between caregivers’ psychosocial information need and the proxy-reported HRQoL of their RD child, although not statistically significant (r = −.18, p = .069). Substantial intercorrelations were found between all types of functional impairments of the children and their HRQoL (physical: rb = −.55, p < .001; mental: rb = −.37, p = .003; social: rb = −.68, p < .001). Child HRQoL was also moderately associated with hospitalization within the past year (rb = −.31, p = .01).