Examining parent coping and QOL as outcomes provides valuable insights into the efficacy of support systems, interventions, and resources to enhance parental resilience, reduce stress, and promote family cohesion in providing care for chronic disease patients (20, 21). The current review is rooted in the unique and substantial challenges parents of children with Achondroplasia face as primary caregivers and the significant medical, physical, and social complexities surrounding Achondroplasia. Despite the critical role these parents play in managing their child’s condition and the profound effects on their wellbeing, there is a lack of consolidated research examining their coping mechanisms and QOL. Reviewing this outcome in this population is essential to gain a deeper understanding of how parents manage challenges and the effectiveness of their coping strategies. Such a review would provide valuable insights into the existing tools used to assess parental coping and QOL, identify gaps in current research, and highlight areas needing further investigation. Moreover, it would inform healthcare providers, policymakers, and support organizations about the specific needs of these families, leading to the development of targeted interventions and support systems.

The inclusion criteria (IC) and exclusion criteria (EC) were established using the PICOS format (22), as detailed in Table 1. The study focused on research involving parents of children with Achondroplasia. Consequently, studies involving the patients themselves were excluded (EC 1).

Additionally, the selected studies had to examine parent outcomes using validated Patient-Reported Outcome Measures (PROMs) or Observer-Reported Outcome Measures (ObsROMs) (IC 2). Inclusion also required that the studies address at least one outcome related to the parent’s quality of life or coping (IC 3). Only original studies published as peer-reviewed journal articles in German or English, with abstracts, titles, and full texts available, were considered (IC 4), with no date restrictions applied. Unpublished studies, book chapters, conference contributions, and case reports were excluded (EC 4.1).

Comprehensive searches were conducted in PubMed and the Web of Science to identify relevant literature, encompassing publications up to 17 January 2024. Preliminary searches were conducted before initiating the formal search process. The final search string, as detailed in Table 2, was employed in the PubMed databases and the Web of Science. The search string covers (BLOCK A) AND (BLOCK B) AND ((BLOCK C PART I) OR (BLOCK C PART II)) (see Table 2).

The PubMed and Web of Science databases were searched, identifying k = 1,549 publications. Two independent researchers screened the titles and abstracts of the studies. Records not meeting the inclusion criteria were excluded (k = 1,526). Two independent researchers screened the remaining k = 23 full texts to assess eligibility. At the end of the study selection process, k = 2 records were included in the review. Figure 1 shows the study selection process for this systematic review in the PRISMA flow chat.

The identified studies were exported to Excel after the systematic search. Subsequently, two independent reviewers thoroughly screened all titles and abstracts, adhering to the predefined inclusion and exclusion criteria. Excluded references were annotated with the specific reason for exclusion. Articles marked as “excluded” by both reviewers were eliminated from consideration. In cases where conflicting votes (e.g., ineligible vs. potentially or probably eligible) were present, the reviewers engaged in discussions until a consensus was reached.

Data were extracted from the included publications using an Excel sheet. The extracted data included study characteristics (e.g., study design, sample size), parent characteristics (e.g., age, marital status), and measures of QoL or Coping. The extracted data were synthesized and presented in a narrative format. The results were summarized according to the results and patterns presented in the identified publications.

The quality of the included studies was assessed using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist (24). The tool assesses the methodological quality of studies reporting prevalence data, such as cross-sectional studies and surveys. The checklist includes nine criteria assessing the appropriateness of the sample frame and sampling strategy and a description of participants and settings. By systematically examining these components, the JBI checklist facilitates a rigorous evaluation of the validity and quality of prevalence studies, aiding reviewers in systematic reviews and evidence synthesis. As shown in Table 3, the results of this evaluation suggest that one of the studies has high quality while the other is of low quality.

The current review analyses two studies published in 2016 and 2019, sourced from Italy and Germany. The first article by Silibello et al. (25) focused on daily changes and coping among 154 families with a child suffering from a rare disability registered at a public center for rare diseases in Northern Italy. They describe the socio-demographic characteristics, health problems, and living conditions of families with children suffering from rare genetic diseases, including a subsample of seven parents of children with achondroplasia. The data were collected between September 2011 and April 2013. No descriptive data on the parents of children with Achondroplasia were reported in the article.

The second article, published by Witt et al. (26), focused on evaluating the quality of life of children with achondroplasia and the quality of life of their parents. The study used cross-sectional data and was part of a more extensive study, the Achondroplasia Personal Life Scale Experience Scale study. Families (one parent per child) of children with Achondroplasia were recruited through the German Association for People of Short Stature and their Families. Only families with a clinical diagnosis of achondroplasia and no other known serious illnesses were included in the study. A total of 73 families participated in the study. The children’s ages ranged from 5 to 14. About 77% of the parent participants were female. No further demographic data was reported for the parent.

Silibello et al. (25) conducted a comprehensive study to explore how various factors influence the coping strategies of parents with children requiring significant care. Their findings revealed interesting associations between parental coping mechanisms and specific demographic variables. Notably, they found that the child’s gender was linked to the use of “Positive Reframing” by mothers, suggesting that mothers may adopt more optimistic reinterpretations of situations based on the gender of their child. Additionally, the child’s age was correlated with the coping strategy of “Acceptance,” indicating that as children grow older, parents may be more inclined to accept the circumstances surrounding their child’s condition.

Silibello et al. (25) also highlighted parental education levels’ impact on coping strategies. For both mothers and fathers, higher education levels were negatively associated with “Behavioral Disengagement,” implying that more educated parents are less likely to disengage behaviorally in response to stress. Conversely, mothers with higher education tended to use “Self-Distraction” more frequently, while fathers with higher education levels were less likely to employ “Positive Reframing.” These findings suggest that education influences how parents manage stress and reframe their experiences. Furthermore, the research indicated that the number of children in the family played a significant role in coping strategies. Families with more children were more likely to resort to “Self-Distraction,” “Denial,” and “Self-Blame,” highlighting the increased stress and complexity of managing multiple children, especially when one requires special care. Additionally, the strategy of “Planning” was positively correlated with the couple’s marital status, suggesting that married couples might be more inclined to engage in forward-thinking and structured problem-solving.

Considering these findings, Silibello et al. (25) concluded that the Italian healthcare system should prioritize investing in operator training and promoting family-centered care (FCC). They emphasized the importance of equipping healthcare providers with the skills to support these families effectively. The researchers also underscored the complexity of managing the network of health and social services necessary for families dealing with chronic health conditions in their children, advocating for a more integrated and supportive approach to care.

Similarly, Witt et al. (26), in a comparative analysis assessing the QoL scores of parents of children with achondroplasia against normative values from a German reference population, found significantly lower scores for the mental component of QoL among the parents. In contrast, physical QoL scores showed no significant differences. Further analysis revealed that parental physical and mental QoL were significant predictors of the parent-reported QoL of their children.

Witt et al. (26) concluded that the results underscore the necessity of addressing patients’ and parents’ QoL in clinical settings. The study suggests that chronic health conditions such as achondroplasia can impact the daily lives of entire families as they adapt to the child’s unique needs. The authors argue that reduced mental QoL in parents exacerbates the overall burden imposed by the child’s chronic condition. Consequently, since parental QoL significantly influences the perceived QoL of the children, clinicians must observe and care for parents’ QoL beyond the children. This highlights the importance of considering the psychosocial circumstances of the entire family in managing chronic health conditions.

Significant Implications: Existing research suggests that having a child with achondroplasia significantly affects parental outcomes, indicating substantial emotional and social implications for the parents.

The current review summarizes findings on parental outcomes associated with caring for children with achondroplasia. The findings suggest that having a child with achondroplasia significantly affects parental outcomes, indicating substantial emotional and social implications for the parents. This impact can be multifaceted, encompassing psychological stress, changes in family dynamics, and broader social interactions. These findings are supported by other studies that assess parent outcomes linked with the impact of providing care for children with chronic diseases (29, 30). Cohn et al. (29), in a systematic review, found that parents of children with chronic illness often experience heightened emotional stress due to the chronic nature of the condition and the associated health complications. Further studies suggest that these parents frequently report feelings of anxiety, depression, and helplessness (31, 32). The persistent need for medical interventions, coupled with concerns about their child’s future, contributes to this emotional burden. While many of the emotional, social, and psychological challenges faced by parents, such as initial grief, uncertainty about the future, and navigating medical systems, are common across various chronic and rare conditions, achondroplasia presents distinctive features. These include the visibility of the condition due to short stature, potential stigmatization, and a unique clinical trajectory involving specific surgical and orthopedic interventions. Such characteristics may intensify the parental burden and shape coping differently compared to less visible or differently progressing conditions. Parents of achondroplasia patients may worry about their child’s physical development, potential for bullying, and the ability to lead an independent life (33). These worries can lead to stress, affecting their overall mental health and wellbeing.

Similarly, research suggests that parents of children with chronic diseases often encounter isolation and stigma (34, 35). This may be more so in cases where the condition is visible and can lead to intrusive questions and unwelcome attention from strangers. This attention can be distressing. Additionally, parents might find it challenging to relate to other parents who do not share similar experiences, leading to social withdrawal (34). For parents of achondroplasia patients, support networks, both formal and informal, become crucial in mitigating these effects. Research indicates that strong social support can buffer against the negative emotional impacts, providing parents with a sense of community and shared understanding (36). Furthermore, interacting with healthcare systems presents another layer of complexity. Parents often need to advocate for their child’s needs, which can be exhausting and time-consuming. The need for specialized care and the potential for frequent medical appointments can disrupt daily life and work schedules, adding to the stress experienced by parents.

Similar to the findings from Silibello et al. (25), other studies on accessing outcomes of chronically ill children suggest that many parents develop effective coping mechanisms and display remarkable resilience over time (37, 38). This is attributed to online and offline engagement in support groups and the emotional support and practical advice from such engagement (39). Similarly, educational programs that enhance understanding of achondroplasia and its management are expected to empower parents, helping them feel more in control and less overwhelmed (10).

The process and findings of the current review also highlight the scarcity of research examining the impact of caring for a child with achondroplasia on parental outcomes. This paucity of literature underscores a significant gap in understanding these families’ full spectrum of challenges and needs. The limited number of studies focused on this area indicates that the unique experiences of parents caring for a child with achondroplasia may be underrepresented in the broader discourse on disability and caregiving. This can contribute to the lack of awareness and implicate policy and practice Gaps (40). Without sufficient research, there is a risk of underestimating the emotional, social, and psychological toll on parents. This lack of awareness can lead to inadequate support systems and resources being made available to these families. Similarly, policymakers and healthcare providers rely on robust research to inform their decisions and practices. The dearth of studies means that there may be gaps in policies and practices that specifically address the needs of families dealing with achondroplasia, leading to insufficient or misdirected support.

This scarcity of research is further linked to the unavailability of specific measures for parental outcomes when having a child with achondroplasia. The review identifies a critical gap in the available research and resources: the absence of specific tools or measures designed to assess the outcomes for parents of children with achondroplasia. This lack of tailored assessment instruments implies inadequate assessment, limited comparability, and a hindrance to intervention development and evaluation (41, 42). Generic measures of parental quality of life and coping may not fully capture the unique challenges faced by parents of children with achondroplasia. This can lead to an incomplete or inaccurate understanding of their experiences and needs. Furthermore, comparing findings across different studies or populations is challenging without specific tools. This limits the ability to draw general conclusions or identify patterns and trends specific to this group. The lack of precise assessment tools hinders the development of effective interventions. Designing and evaluating targeted support programs becomes difficult without clearly understanding these parents’ specific outcomes and needs.