Impact on the Family of Raising Children With Rare Diseases: A Propensity Score Approach

PURPOSE: Living with children with disabilities has a significant impact on all aspects of family functioning and quality of life. Barth syndrome (BTHS) and congenital muscular dystrophy (CMD) are rare diseases typically diagnosed during infancy or early childhood. Evidence is sparse regarding the extent to which children with BTHS and CMD influence families’ daily living. Therefore, this study investigates the impact of a child’s functional ability and family cohesion on family functioning and quality of life of families of children with rare diseases.

DESIGN: This cross-sectional descriptive study entailed a survey of parents who had children or youth between the ages of 5 and 19 with BTHS or CMD. Parents of age-matched unaffected children were selected as matched controls. Inclusion criteria consisted of: 1) parents of children with BTHS, CMD, or unaffected children between the ages of 5 and 19, and 2) parents who were English-speaking and able to read at an 8th grade level.

METHOD: Forty parents of children with rare diseases and 40 parents of unaffected children completed questionnaires providing information on demographics, their child’s functional ability (The Modified Barthel Index: MBI), family cohesion (The Family Adaptability and Cohesion Evaluation Scale-IV: FACES-IV), and their parental quality of life and family functioning (The PedsQL Family Impact Module: PedsQL FIM). General linear models (GLM) were used to model family functioning as a function of a child’s condition. A propensity scoring model was developed to control for confounders and estimate the propensity for the rare disease group membership. A sensitivity analysis for inclusion of the propensity score in the GLMs was performed.

RESULTS: Forty parents with children with rare diseases were sampled, and 40 matched controls selected for comparative purposes. Among the 80 parents chosen for this study, the majority were non-Hispanic white (71%), married (87.5%), affluent (60%), and maintained full-time employment (65%). Slightly more than half of the sample had a graduate or professional degree (57.5%). The mean (standard deviation) parent age was 42.0 (6.3) years. Children with rare diseases were predominantly male (70%) and slightly more than half were older than 10 years of age (58.8%). Parental race, education, and employment status, as well as child functional ability, were significantly different between the rare disease and unaffected groups. A multivariable general linear model with propensity score adjustment showed that family functioning and parental quality of life of parents of children with rare diseases were significantly lower than those with unaffected children (-13.79, 95% confidence interval: [-23.82, -3.75], p= 0.0078).

CONCLUSION: The finding of this study shows that having a child with lower functional ability results in lower parental quality of life and family functioning. The results suggest that having a child who is not able to fully or independently engage in physical activities can place additional time constraints on other family members, as well as potentially generate conflict and tension. In addition, families of children with rare diseases showed significantly higher family cohesion than the unaffected group. By understanding their child’s disability, the parents in our study may have developed coping skills and better managed the relationships among family members and with others.

IMPACT STATEMENT: This study seeks to broaden the knowledge regarding impact of raising children with rare diseases on the family. Findings of this study may contribute to building an evidence-based approach to develop effective strategies to support well-being of families.

References

Storch, E. A., Keeley, M., Merlo, L. J., Amant, J. B., Jacob, M., Storch, J. F., . . . Byrne, B. J. (2009). Psychosocial Functioning in Youth With Barth Syndrome. Childrens Health Care, 38(2), 137-156. doi: Pii 910610028 Doi 10.1080/02739610902813344

Bertini, E., D’Amico, A., Gualandi, F., & Petrini, S. (2011). Congenital muscular dystrophies: A brief review. Seminars in Pediatric Neurology, 18, 277–288. https://doi.org/10.1016/j.spen.2011.10.010