healthcare

Article
Caregiver Burden, Parenting Stress and Coping Strategies:
The Experience of Parents of Children and Adolescents with
Osteogenesis Imperfecta
Alice Aratti and Laura Zampini *

Department of Psychology, University of Milano-Bicocca, Piazza dell’Ateneo Nuovo 1, 20126 Milan, Italy;
[email protected]
* Correspondence: [email protected]

Abstract: Only a few studies, mainly qualitative thematic analyses of interviews, have dealt with the
psychological experience of parents of children and adolescents with osteogenesis imperfecta (OI), a
rare genetic syndrome involving skeletal fragility and increased exposure to bone fractures. The aim
of the present study was to evaluate both negative (i.e., parental burden and parenting stress) and
positive (i.e., coping strategies and perceived social support) experiences of parents related to their
children’s disease and behaviour. The participants were 34 parents of children and adolescents with
OI who completed a specifically developed online survey assessing their psychological experience
with caregiving, their perception of the severity level of their children’s condition and any possible
behavioural problems experienced by their children. Data analyses showed that 65% of the parents
showed a clinical level of caregiver burden and nearly 30% a clinical level of parenting stress.
Caregiver burden was related to the perceived severity level of the condition and the externalising
problems shown by their children. Concerning the positive aspects of the parents’ experience, a high
level of perceived social support was connected to a lower level of parenting stress; the same did not
happen for caregiver burden. Coping strategies were connected to stress and burden; in particular,
a higher level of stress corresponded to a higher level of avoidance, and a higher level of burden
corresponded to a higher level of positive attitude.
Citation: Aratti, A.; Zampini, L.
Caregiver Burden, Parenting Stress
and Coping Strategies: The
Keywords: osteogenesis imperfecta; caregiver burden; parenting stress; coping strategies; perceived
Experience of Parents of Children and social support
Adolescents with Osteogenesis
Imperfecta. Healthcare 2024, 12, 1018.
https://doi.org/10.3390/
healthcare12101018 1. Introduction
Academic Editor: Osteogenesis imperfecta (OI) is a rare genetic syndrome with autosomal dominant
Ines Aguinaga-Ontoso transmission due to a mutation of the COL1A1 and COL2A2 genes with consequent
skeletal fragility and greater exposure to bone fractures; for this reason, it is also called
Received: 25 March 2024 brittle bone disease. This mutation can be inherited from a parent with OI but can also occur
Revised: 9 May 2024
spontaneously during conception [1]. OI affects approximately 1 in every 10,000 people [2],
Accepted: 12 May 2024
and in Italy, there are approximately 4000 people living with OI (www.telethon.it, accessed
Published: 14 May 2024
on 5 May 2024).
Every genetic disease is a potential stressor for dysfunctional outcomes in parenthood.
Moreover, caring for a child with chronic illness involves the investment of additional psy-
Copyright: © 2024 by the authors.
chological, emotional, social, physical and economic resources [3]. Therefore, for parents and
Licensee MDPI, Basel, Switzerland. caregivers of children with OI, living most of their lives in contact with such a complex medical
This article is an open access article condition represents a significant stressor [4]. In the case of OI, different studies have underlined
distributed under the terms and that the aspects that make parenting a child with OI stressful could be many. Lazow and
conditions of the Creative Commons colleagues [5] found that the physical suffering and limited independence of children are the
Attribution (CC BY) license (https:// main risk factors for parents, who are highly likely to experience stress and a poor quality of life;
creativecommons.org/licenses/by/ Hill and colleagues [6] found that fractures, tiredness and mobility issues can limit parent–child
4.0/). interactions and activities and impact daily life and emotional well-being.

Healthcare 2024, 12, 1018. https://doi.org/10.3390/healthcare12101018 https://www.mdpi.com/journal/healthcare

Healthcare 2024, 12, 1018 2 of 13

However, Hill and colleagues [7], in their systematic review of the impact of OI on
family well-being, highlighted that families can face the challenges related to the disease
and be resilient. The thirteen studies included in the review (one mixed-method study,
six qualitative studies and six quantitative studies) involved about 500 participants, in-
cluding 209 mothers and 65 fathers. Three fundamental themes emerged from the review:
(1) the impact of OI on the psychosocial well-being of families, (2) the impact of OI on
family life and (3) how OI is related to evolving roles and relationships. The review high-
lighted that fear of fractures and uncertainty about when the next one will occur are the
main factors that impact family life and all family members. However, parents gradually
accept the diagnosis and its consequences during child development with good adaptability.
The children’s needs are incorporated into the daily routine, and the families generally
demonstrate an excellent ability to maintain a positive perspective regardless of challenges.
Furthermore, the resilience of families with children with OI is one of the main findings
of the research conducted by Hill and colleagues [6] on fifty-six participants, including
eight parents of children with OI. The impact of OI on the daily life of patients and families
was investigated through semi-structured qualitative interviews. The results highlighted
that OI is not only a genetic condition but is also a factor affecting family functioning
and parenting skills. However, despite the initial shock about the diagnosis, the parents
explained how acceptance grew over time as they became used to dealing with the disease.
Social support is a further factor that increases the ability to cope with potential OI-
related stressors since it might reduce the effect of anxiety, depression and post-traumatic
stress symptoms. The descriptive and cross-sectional study conducted by Arabaci and
colleagues [8] via face-to-face interviews with 46 parents pointed out that caregivers who
obtain support from people close to them can develop greater hope for the future. In
addition, access to the larger community of people living with OI through computer
systems and the internet constitutes a significant resource of short- and long-term social
support, as Castro and colleagues [9] demonstrated in their qualitative study on caregivers.
Although there is no research about coping strategies in parents of children and
adolescents with OI, we know that parents of children with chronic illnesses can show two
different patterns of coping strategies: adaptive strategies, such as acceptance, constructive
coping and distraction, and maladaptive strategies, such as avoidance and denial [10,11].
However, it should also be noted that avoidance and denial could be adaptive strategies
if the caregiver does not have the capacity to manage the stressor at the time [12,13].
A study carried out by Janusz and Walkiewicz [14] found three basic parental coping
strategies related to children’s chronic illnesses: emotion-focused strategies, problem-
focused strategies and avoidance-focused strategies. In general, adaptive strategies are
associated with lower emotional distress and reduced burden, while maladaptive strategies
are associated with greater distress and lower well-being.

Aims of the Present Study

The main aim of the present study was to collect information about the psychological
experience of mothers and fathers of children and adolescents with OI in order to analyse
the impact of the disease (in terms of the severity of the condition and possible behavioural
problems) on parental burden, parenting stress, parental coping strategies and perceived social
support. The existing research in the literature about family well-being linked to children’s OI
conditions is mainly of a qualitative type (e.g., thematic analyses of interviews) and focuses on a
psychosocial description of the disease aspects [9,15–22]. The few quantitative studies about OI
analyse specifically the negative aspects of living with the disease, such as stress, depressive
symptoms or level of distress. Furthermore, they refer to Anglo-Saxon, American and Northern
European contexts with no reference to other countries [8,17,23,24].
In the present study, we focused on quantitative data to outline a general picture of
parents’ experience in the Italian context, with a focus on negative (i.e., parental burden and
parenting stress) and positive aspects (i.e., coping strategies and social support) in parenting
a child or an adolescent with OI. In particular, the study aimed to analyse the following:
Healthcare 2024, 12, 1018 3 of 13

(1) the relationships between, on the one side, caregiver burden and parenting stress and, on
the other side, the severity of the disease (as perceived by parents) and the possible behavioural
and emotional problems shown by their children and (2) the relationships between parental
negative experiences, in terms of caregiver burden and parenting stress, and coping strategies
and perceived social support as possible resources.

2. Methods
2.1. Participants
The participants were 34 parents, i.e., 23 mothers (68%) and 11 fathers (32%), of
children and adolescents diagnosed with OI. The parents were recruited from AS.IT.O.I
(Associazione Italiana Osteogenesi Imperfetta), the Italian association for people with OI
and their families. A public link from Qualtrics was made available via the OI association’s
website and a newsletter to access the survey. Inclusion criteria were being a parent of a
child or adolescent with OI ranging in age from 0 to 21 years and having a good knowledge
of Italian, since the survey questions were written in Italian. Forty-one parents had access
to the questionnaire, but four did not complete it in full.
The study was approved by the local commission for minimal-risk studies of the
Department of Psychology of the University of Milano-Bicocca (RM-2021-454 on 14 October
2021). All parents signed an informed consent form before inclusion in the study.

2.2. Procedure
The participants were asked to complete a survey developed for the present study.
The survey was created and distributed using Qualtrics (https://www.qualtrics.com). The
questionnaire filling was anonymous and took about 30 min. The following two main
topics were investigated:
1. The features of children and adolescents with OI. In particular, the severity of the
disease as perceived by their parents and the presence of any eventual behavioural or
emotional problems;
2. The parents’ psychological experiences, focusing on negative (caregiver burden and par-
enting stress) and positive aspects of life (coping strategies and perceived social support).

2.2.1. Features of Children and Adolescents with OI

This topic was analysed through the following three dimensions:
1. Personal data (e.g., age, sex) and anamnestic data concerning OI (e.g., type of OI).
We asked the parents to focus on the last 12 months, and we requested them to
indicate if their children were hospitalised (0 = no hospitalisation, 1 = one or more
hospitalisations) if they had access to the emergency room (0 = no, 1 = one or more
time) and if they had suffered fractures (0 = no fracture, 1 = one or more fractures).
We chose to focus on the last 12 months because recent experiences may have a higher
impact on the current situation.
2. The severity of symptoms shown by children and adolescents diagnosed with OI,
as perceived by their parents. To assess this dimension, the parents were asked
to indicate if their children showed some problems in nine areas of development:
(1) sight, (2) hearing, (3) autonomous breathing, (4) autonomous feeding, (5) self-care,
(6) upper motor skills, (7) lower motor skills, (8) language and (9) cognitive abilities.
For each of these areas, the parents were asked to rate on a five-point Likert scale
if their children showed those problems or not as follows: (a) not at all (0 points),
(b) a little (1 point), (c) enough (2 points), (d) much (3 points) and (e) very much
(4 points). Then, a perceived severity score (Severity_score) (ranging from 0 to 36)
was computed by adding the scores totalised in each area (e.g., a child with enough
(2 points) difficulty in self-care and much (3 points) difficulty in language development
would score 5 points in the severity score).
3. Child/adolescent behavioural and emotional problems, as perceived by their parents,
were assessed by The Child Behaviour Checklist (CBCL) [25,26], which analysed
Healthcare 2024, 12, 1018 4 of 13

the children’s behaviour in terms of internalising and externalising problems. The

questionnaire included two versions of the CBCL, one for the age range 1.5–5 years
and the other for the age range 6–18 years, so the data were analysed according to the
age of the children. In the present study, we considered two indices: one computed
by adding the scores of the internalising scale (CBCL_internalising) and the other by
adding the scores of the externalising scale (CBCL_externalising). The raw scores
were then converted into T scores. T scores with a value equal to or greater than
70 indicated the presence of clinically significant behavioural or emotional problems.

2.2.2. Parents’ Psychological Experiences

This topic was analysed through the following four dimensions:
1. Parental burden, assessed by The Caregiver Burden Inventory (CBI) [27,28], which is
composed of 24 items for evaluating the impact of the parental burden on different
aspects of a caregiver’s life through 5 subscales: time-dependent burden (“I don’t have
a minute’s break from my caregiving chores”) (CBI_Time dependent), developmental
burden (“I wish I could escape from this situation”) (CBI_Developmental), physical
burden (“I’m physically tired”) (CBI_Physical), social burden (“I’ve had problems with
my marriage”) (CBI_Social) and emotional burden (“I feel angry about my reactions
toward my care receiver”) (CBI_Emotional). In the present study, we also considered
the index of total burden (CBI_Total). Scores between 0 and 24 indicated a low risk
for burden, scores between 25 and 36 indicated a moderate risk and scores over
36 indicated a high risk for burden. The Italian version of the CBI has a high internal
consistency (Cronbach’s alpha > 0.80).
2. Parenting stress, assessed by The Parenting Stress Index short form (PSI) [29,30], which
is composed of 36 items for measuring parenting stress through 3 subscales: parental
distress, difficult child and parent–child dysfunctional interaction. In the present
study, we considered the total stress index computed by adding the scores of the three
subscales (PSI_Total). The total stress indexes were converted into percentiles, with
a clinical range over the 85th percentile. The Italian version of the PSI has a good
internal concurrent validity [30].
3. Coping strategies of the parents, assessed by The Coping Orientation to Problems
Experienced (COPE) [31,32], which is composed of 60 items for measuring coping
strategies through 5 factors: social support (COPE_Social Support), positive attitude
(COPE_Positive Attitude), problem solving (COPE_Problem Solving), avoidance strate-
gies (COPE_Avoidance) and turning to religion (COPE_Religion). In the Italian version,
the five scales have a high internal consistency (Cronbach’s alphas = 0.70–0.91).
4. Perceived social support, assessed by The Multidimensional Scale of Perceived Social
Support (MSPSS) [33,34], which is composed of 12 items for measuring environmental
perceived support through 3 subscales: support from friends, support from family
and support from a significant other (e.g., the partner). The questionnaire includes
four items for each source of support (e.g., “My family really tries to help me”) on a
7-point rating scale ranging from 1 (very strongly disagree) to 7 (very strongly agree).
In the present study, we considered the composite score of perceived social support
obtained by averaging the three subscales (MSPSS_Total). Higher scores indicated
higher levels of perceived social support. The Italian version of the MSPSS has a good
internal concurrent validity [34].

2.3. Data Analyses

Statistical analyses were performed using IBM SPSS for Windows version 29. We used
non-parametric tests since the sample size was small and the variables were not normally
distributed. To investigate the first goal of the study, we used Spearman’s correlation and
point biserial correlation to evaluate whether the children’s and adolescents’ problems
(i.e., severity score and CBCL scores) or health conditions (i.e., hospitalisations, emergency
room accesses and fractures) could influence caregiver burden and parenting stress. To
Healthcare 2024, 12, 1018 5 of 13

investigate the second goal, we used the Spearman correlation to evaluate if perceived
social support might be a protective factor against parental burden and parenting stress
and whether coping strategies might be related to burden and stress.

3. Results
3.1. Description of Parents of Children and Adolescents with OI
The mean respondents’ age was 42 years (SD = 6.27; range = 29–55). All the participants
were Italian, except for one mother from Switzerland. Italian was the mother tongue of all
the participants. Concerning parental education, one parent (3%) attended elementary and
junior school (8 years of education), five (14%) had a professional certificate of competence
(11 years of education), sixteen (47%) had a high school diploma (13 years of education),
seven (21%) had a master’s degree (18 years of education) and five (15%) had a postgraduate
specialisation (19–23 years of education). Twenty-two parents out of thirty-four (65%) were
working at the time of the study.

3.2. Description of Children and Adolescents with OI

Since in seven cases both the mother and the father of the same child participated in
the study, the participants were the parents of 27 children and adolescents with OI ranging
in age from 6 months to 19 years (M = 8.80; SD = 5.11). Fifteen (56%) were females.
Considering the type of OI, eleven children/adolescents had type I (41%) (i.e., the
milder level), three had type IV-V (11%) (i.e., the moderate level) and eight had type III
(30%) (i.e., the most severe level); the remaining five children/adolescents (18%) had type II-
VII-VIII, which are new categories that are still little analysed. However, the type of genetic
mutation is insufficient to determine the severity level of the disease in advance since the
severity grading scale of OI relies on clinical and historical data, fracture frequency, bone
densitometry and level of mobility of people with OI, as stated in a recent study confirming
that the new OI nomenclature and the pre- and postnatal severity assessment emphasise
the importance of phenotyping to diagnose, classify and assess the severity of OI [35].
The diagnosis was given in the prenatal period or at birth for 14 children/adolescents
(52%) and during development for 13 children/adolescents (48%). The data regarding
hospitalisations, emergency room admissions and fractures experienced
Healthcare 2024, 12, x FOR PEER REVIEW 6 of 13during the last
12 months are reported in Figure 1.

Figure 1. Number of children/adolescents experiencing hospitalisations, emergency room admis-

Figure 1. Number of children/adolescents experiencing hospitalisations, emergency room admissions
sions and fractures during the last 12 months.
and fractures during the last 12 months.
Concerning how the parents perceived the difficulties and problems experienced by
their children, the mean perceived severity score was 4.65 (SD = 3.79; range = 0–15) on a
potential range of 0–36. The result was lower than expected. Analysing the nine areas of
development, we found that a high number of parents reported difficulties in lower and
upper motor skills and self-care; only a few parents reported difficulties in hearing, au-
tonomous breathing, language and cognitive development (Figure 2). Therefore, the
 Figure 1. Number of children/adolescents experiencing hospitalisations, emergency room admis-
sions and fractures during the last 12 months.
Healthcare 2024, 12, 1018 6 of 13
Concerning how the parents perceived the difficulties and problems experienced by
their children, the mean perceived severity score was 4.65 (SD = 3.79; range = 0–15) on a
potential range of 0–36. The resulthow
Concerning wasthelower
parentsthan expected.
perceived Analysing
the difficulties the nine
and problems areas of
experienced by
their children, the mean perceived severity score was 4.65 (SD = 3.79; range = 0–15) on
development, we found that a high number of parents reported difficulties in lower and
a potential range of 0–36. The result was lower than expected. Analysing the nine areas
upper motor skills and self-care; only
of development, a few
we found thatparents reported
a high number difficulties
of parents reported in hearing,
difficulties au-
in lower
tonomous breathing, language and cognitive development (Figure 2). Therefore, the
and upper motor skills and self-care; only a few parents reported difficulties in hearing,
autonomous breathing, language and cognitive development (Figure 2). Therefore, the
greatest difficulties were found in daily life’s practical and concrete activities rather than
greatest difficulties were found in daily life’s practical and concrete activities rather than in
in intellectual abilities.
intellectual abilities.

Figure 2. Number of parents reporting difficulties in their children in the developmental areas considered.

Concerning emotional and behavioural problems, as assessed by the CBCL, the parents
reported a mean index of 64.17 (SD = 14.81; range = 39–95) for internalising problems. Five
scores were within the borderline range (T = 65–70), and nine were within the clinical range
(T > 70). Regarding externalising problems, the parents reported a mean index of 58.39
(SD = 12.52; range = 34–88). Six scores were within the clinical range (T > 70).

3.3. Descriptions of the Parents’ Psychological Experiences

Regarding the parents’ psychological experiences, we analysed the following negative
and positive aspects of life: caregiver burden, parenting stress, coping strategies and perceived
social support. The data are reported in Table 1. Concerning parental burden, the mean total
score (M = 44.58) was above the cutoff that indicates a risk of caregiver burnout (>36), whereas
concerning parenting stress, the mean total score (M = 58.75) was under the clinical range
(>85). Twenty-two parents (65%) obtained a score indicating a high risk for caregiver burden,
and ten parents (29%) achieved a clinically significant score for parenting stress.
Healthcare 2024, 12, 1018 7 of 13

Table 1. Descriptive statistics of caregiver burden, parenting stress, coping strategies and perceived
social support in parents of children/adolescents with OI.

M SD Range
CBI_Time
14.12 5.16 5–25
dependent
CBI_Developmental 8.18 3.97 5–23
Caregiver
CBI_Physical 9.70 4.56 5–25
burden
CBI_Social 8.64 3.94 5–19
CBI_Emotional 5.79 1.14 5–9
CBI_Total 44.58 13.91 25–87
Parenting stress PSI_Total 58.75 29.07 15–100
COPE_Social
25.67 6.74 13–37
Supp
Coping COPE_Positive
33.77 4.60 24–42
strategies Att
COPE_Problem
30.06 6.37 15–46
Solv
COPE_Avoidance 20.47 3.81 16–33
COPE_Religion 22.37 5.58 13–32
Perceived social
MSPSS_Total 5.42 1.08 3–7
support
Note. CBI = Caregiver Burden Inventory; PSI = Parenting Stress Index; COPE = Coping Orientation to Problems
Experienced; MSPSS = Multidimensional Scale of Perceived Social Support.

Concerning coping strategies, only the mean score of positive attitude (M = 33.77)
was over the norm score (30.9). Twelve parents (34%) scored above the norm score for
social support, twenty-six (81%) for positive attitude, thirteen (37%) for problem-solving,
six (18%) for avoidance strategies and fifteen (44%) for turning to religion. Concerning the
perceived social support, the mean score was 5.42 (SD = 1.08) on a potential range of 0–7.

3.4. Relationship between Parental Difficulties and Children’s/Adolescents’ Problems and Health Conditions
To evaluate whether parental experiences and children’s/adolescents’ problems were
connected, the CBI and PSI scores were correlated with the perceived severity level and the
CBCL internalising and externalising scores. As reported in Table 2, total parenting stress
(PSI_Total) was not significantly related to the perceived severity of symptoms or to the
CBCL internalising and externalising problems, although a tendency towards significance
emerged with the externalising scale. In contrast, caregiver burden (CBI_Total) was signifi-
cantly related to the perceived severity level of symptoms (Severity_score) and to the exter-
nalising problems of the CBCL (CBCL_externalising). In particular, the time-dependent
burden (CBI_Time dependent) was related to both the externalising problems of the CBCL
and the severity of symptoms, whereas developmental burden (CBI_Developmental) was
related only to the perceived severity of symptoms.

Table 2. Relationship between caregiver burden and parenting stress and children’s/adolescents’ characteristics.

Severity_Score CBCL_Internalising CBCL_Externalising

Rho p Rho p Rho p
CBI_Time dependent 0.62 <0.001 0.24 0.203 0.39 0.039
CBI_Developmental 0.50 0.003 0.21 0.278 0.20 0.304
CBI_Physical 0.25 0.162 0.32 0.089 0.21 0.287
CBI_Social 0.22 0.215 0.18 0.340 0.24 0.228
CBI_Emotional 0.09 0.625 0.16 0.399 0.28 0.146
CBI_Total 0.54 0.001 0.30 0.111 0.39 0.043
PSI_Total 0.13 0.486 0.26 0.176 0.36 0.067
Note. CBI = Caregiver Burden Inventory; PSI = Parenting Stress Index; CBCL = Child Behaviour Checklist.
Healthcare 2024, 12, 1018 8 of 13

In addition, to evaluate if recent children’s/adolescents’ medical emergencies could

influence their parents’ lives, we computed the correlations between the CBI and PSI scores
and the occurrence of hospitalisations, emergency room admissions and fractures during
the last 12 months. As reported in Table 3, only the total caregiver burden (CBI_Total) was
significantly related to hospitalisations, since parents whose children had been hospitalised
in the last 12 months showed higher levels of caregiver burden.

Table 3. Relationship between caregiver burden and parenting stress with children’s and adolescents’
medical emergencies in the last 12 months.

Emergency Room
Hospitalisations Fractures
Admissions
rpb p rpb p rpb p
CBI_Total 0.43 0.013 0.07 0.688 0.31 0.075
PSI_Total −0.01 0.955 −0.045 0.806 0.07 0.691
Note. CBI = Caregiver Burden Inventory; PSI = Parenting Stress Index.

3.5. Relationship between Parental Difficulties and Positive Aspects of Their Experiences
To evaluate whether parental difficulties and positive aspects of their experiences were
connected, the CBI and PSI scores were related to perceived social support and coping
strategies. As reported in Table 4, overall social support (MSPSS_Total) was negatively
significantly related to total parenting stress (PSI_Total). The negative correlation suggests
that parents who experienced a greater level of perceived social support were found to be
significantly less stressed.

Table 4. Relationship between caregiver burden and parenting stress and coping strategies and
perceived social support.

CBI_Total PSI_Total
Rho p Rho p
COPE_Social Supp 0.16 0.385 0.08 0.682
COPE_Positive Att 0.38 0.037 0.30 0.114
Coping strategies COPE_Problem
0.32 0.073 0.23 0.214
Solv
COPE_Avoidance 0.22 0.228 0.38 0.035
COPE_Religion −0.01 0.955 −0.15 0.429
Perceived social
MSPSS_Total −0.13 0.466 −0.58 <0.001
support
Note. CBI = Caregiver Burden Inventory; PSI = Parenting Stress Index; COPE = Coping Orientation to Problems
Experienced; MSPSS = Multidimensional Scale of Perceived Social Support.

Concerning coping strategies (see Table 4), avoidance strategies (COPE_Avoidance)

were significantly related to parenting stress (PSI_Total). In contrast, a positive attitude
(COPE_Positive Att) was unexpectedly significantly related to total caregiver burden
(CBI_Total). The positive correlation suggests that parents who experienced a greater level
of burden were found to use a positive attitude as a coping strategy (“I try to use this
experience to grow as a person”, “I look for something positive in what is happening”).

4. Discussion
The present study was designed to collect caregiver ratings about the experience
of parenting children and adolescents with OI in the Italian context. Both the negative
and positive aspects of being a mother or father of children with OI were examined. The
study focused on two goals: examining the relationships between parental difficulties
(i.e., caregiver burden and parenting stress) and the children’s/adolescents’ features (i.e.,
severity of the disease and behavioural and emotional problems) and examining the
Healthcare 2024, 12, 1018 9 of 13

relationships between parental negative experiences (i.e., caregiver burden and parenting
stress) and possible resources (i.e., coping strategies and perceived social support).
A total of 29% of the parents showed a level over the clinical range in parenting stress,
and 65% of them were at risk for caregiver burnout. These data confirm the difficulties
experienced in parenting a child or an adolescent with a chronic illness, such as OI [4,36].
Living with such a complex medical condition represents a significant stressor that negatively
affects the social lives of caregivers; in particular, parents caring for children with worse
physical functioning are at higher risk for stress [7,8,16]. In addition, our results are in line
with previous studies about caregiver burden: parents with children who experienced chronic
illness reported a significant caregiver burden, especially because of the time spent on care to
assist their children and the reduction in time and activities for themselves [37].
By analysing the effect generated by children’s and adolescents’ disease on parental
burden and parenting stress, we found that the severity of symptoms was linked to parental
burden, particularly time-dependent burden and developmental burden. Therefore, hav-
ing a child who shows severe symptoms generates a restriction of one’s personal time
(time-dependent burden) and a sense of failure regarding one’s hopes and expectations
(developmental burden). Children’s/adolescents’ externalising problems were found to be
linked to parental burden; this result is in line with previous studies about children and
adolescents with neurotypical development and autism spectrum disorder that found a
significant association between parenting stress and externalising behaviour problems in
these populations [38–41]. Although not statistically significant, the relationship between
parenting stress and externalising behaviours might be bi-directional, since parenting stress,
deriving from a relationship with a difficult child, could induce anger and irritability in
children and adolescents. In addition, parents with higher levels of stress might perceive
their children as more problematic [42].
By analysing anamnestic data, we also found that parents whose children had been
hospitalised in the last 12 months showed higher levels of caregiver burden. These data
confirm previous qualitative studies on parents of individuals with OI that showed how a
fear of fractures, hospitalisations and children’s behavioural problems generate stress and
feelings of tiredness and worry connected to caregiver burden [9,21]. In particular, parents
of children and adolescents with OI reported that they felt chronic exhaustion (physical
burden), that their role in the family and towards other children had changed (social
burden) and that they devoted most of their time to the children with OI (time-dependent
burden); all these environmental factors analysed in qualitative research were connected to
experiences of hospitalisations and fractures.
Concerning the positive aspects of parents’ experience, we found that a higher level
of perceived social support was connected to a low level of parenting stress but not to a
lower level of caregiver burden. It might be that the caregiver burden depends more on the
children’s severity level and behavioural problems and might be less influenced by social
support than stress. Having someone by their side could be a relief for parents, but it does
not reduce their workload. The social support analysed in the present study concerned
more emotional help (e.g., having someone to share positive and negative feelings or
decisions) than material support (e.g., helping parents with daily life, home management,
children’s therapies or medical tests).
Coping strategies appeared to be related to stress and burden; in particular, higher
levels of avoidance corresponded to a higher level of stress, and higher levels of positive
attitude corresponded to higher levels of burden. The relationship between stress and
avoidance could be explained by considering that parents experiencing particularly stress-
ful life situations, such as caregivers of children with disabilities, may detach themselves
from problems by avoiding thinking about them or pretending they do not exist. When
parents do not have enough resources to deal with the problem, denial can be an adaptive
strategy [12,13]. These data confirmed previous studies in the literature suggesting that
avoidant coping strategies are linked to the perception of bodily sensations considered
unpleasant and anxiety-provoking [42] and that the use of avoidance, which is a maladap-
Healthcare 2024, 12, 1018 10 of 13

tive coping strategy, is associated with higher levels of stress in caregivers of children with
autism spectrum disorder [43,44].
In contrast, the results of our study suggest that parents who experience higher levels
of caregiver burden might implement a positive attitude, trying to use negative experiences
to grow as a person and to accept the problem and live with it. This result is not consistent
with previous studies on caregivers of stroke patients or individuals with dementia, which
have found that the use of dysfunctional coping strategies contributed to increased feelings
of caregiver burden and that adaptive strategies, such as a positive attitude, contributed
to a decreased level of caregiver burden [45,46]. However, this result could be explained
by considering the results of qualitative studies on the OI population; parents of children
and adolescents with OI develop positive mindsets, optimistic views, coping strategies
and resilience, so over time, the diagnosis and its consequences are accepted despite the
problems and difficulties connected with the disease [9,17,18,20]. This situation of gradual
acceptance is profoundly different from that of caregivers of individuals with dementia or
other degenerative conditions.

Limitations, Future Directions and Clinical Implications

The main limitation of this study is the small number of participants, which does not
allow for a generalisation of the results to the highly variegated population of individuals
with OI and limits the type of statistical analyses performed. Another limitation is that we
detected the subjective perception of the parents and not the objective conditions of their
children. Therefore, the parents’ answers might have been influenced by their current state
of well-being. Moreover, since the survey was disseminated via the OI association’s website
and newsletter, we have to consider that we analysed the experience of a particular subset
of parents and that we had a non-response bias, since parents not following an associative
life were probably under-represented.
In future studies, we will consider the relationships between subjective parental
perception and the actual characteristics of children (for instance, correlating parental
experience with medical reports) and will assess if participation in an associative life
might relieve the feeling of isolation that often characterises rare genetic diseases [47] and,
consequently, parenting stress and parental burden.
This study’s results shed light on the importance of supporting parents of children with
OI to increase their well-being. A possible strategy would be implementing educational
programs aimed at increasing functional coping strategies in these parents. Previous studies
have demonstrated that specific parent training focused on the difficulties related to OI can
lead to significant changes, including a reduction in feelings of anxiety and an increase in
more functional and adaptive coping skills [7].
Moreover, the negative correlation between perceived social support and parenting
stress underlines how it is important to analyse the context in which the families live. For
instance, participating in a community of people with similar problems (e.g., associations
of families) might have a positive impact on parent’s perceived social support. As shown
by previous studies, having a connection with the larger community of people living with
OI is an important source of social support [22].

5. Conclusions
Our results show that parents of children and adolescents with OI are at risk for caregiver
burden and parenting stress. In particular, caregiver burden appears to be related to recent
medical emergencies (i.e., having a child who has been hospitalised in the last 12 months),
to the perceived severity of OI symptoms and to the externalising problems shown by their
children. Parenting stress, but not caregiver burden, appears to be significantly mitigated
by perceived social support; in addition, maladaptive coping strategies, such as avoidance,
appear to be related to higher levels of parenting stress. These results suggest the importance
of supporting parents of children and adolescents with OI to improve their quality of life.
Healthcare 2024, 12, 1018 11 of 13

Author Contributions: Conceptualisation, A.A. and L.Z.; Methodology, A.A. and L.Z.; Data Col-
lection, A.A.; Formal Analysis, A.A. and L.Z.; Writing—Original Draft Preparation, A.A. and L.Z.;
Supervision, L.Z.; Project Administration, L.Z.; Funding Acquisition, A.A. and L.Z. All authors have
read and agreed to the published version of the manuscript.
Funding: This study was funded by AS.IT.O.I (Associazione Italiana Osteogenesi Imperfetta) [Italian
Association Osteogenesis Imperfecta], www.asitoi.org/.
Institutional Review Board Statement: This study was conducted according to the guidelines of
the Declaration of Helsinki and approved by the local commission for minimal-risk studies of the
Department of Psychology of the University of Milano-Bicocca (RM-2021-454 on 14 October 2021).
Informed Consent Statement: Informed consent was obtained from all participants involved in this study.
Data Availability Statement: The data that support the findings of this study are available from the
corresponding author upon reasonable request.
Acknowledgments: The authors would like to thank all the participants involved in this study and
AS.IT.O.I that helped in the survey distribution.
Conflicts of Interest: The authors report no conflicts of interest. The authors alone are responsible for the
content and writing of the paper. There are no financial or non-financial competing interests to declare.

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