The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module

Authors: Yoonjeong Lim, Ickpyo Hong, Areum Han

Journal: Occupational therapy International (Link to article)

Barth syndrome is a multi-system disorder that is primarily characterized by cardiomyopathy, neutropenia, muscle weakness, growth delay, and exercise intolerance. There is currently no cure or specific treatment for Barth syndrome and families often need a diverse set of supports to cope with the caregiving challenges they may face. Many affected individuals and their families report reduced health-related quality of life, which encompasses physical, cognitive, emotional, and social functioning. Measuring health-related quality of life endpoints has the potential to offer affected families valuable tools to improve their social and healthcare-related needs.

Findings: In a recent paper, Dr. Yoonjeong Lim (Occupational Therapist and Assistant Professor at Binghamton University) and her team evaluated a research tool/survey assessment (similar to a questionnaire) called the PedsQL Family Impact Module. The research tool is designed to measure several different factors (known as domains): physical functioning, emotional functioning, social functioning, cognitive functioning, communication, worry, daily activities, and family relationships. Before a survey assessment can be widely used, researchers must first check that it works reliably in a given group of people. In this case, the survey was given to families affected by Barth syndrome (as well as unaffected families) to determine how reliable (consistent) and valid (accurate) it was in measuring parental health-related quality of life and family functioning. While it may seem redundant, determining the reliability and validity of a research tool is vital in the context of rare diseases like Barth syndrome and clinical research and trials to ensure that the data collected are meaningful. Using a series of statistical tests (What are statistics?) to look for measurable changes between affected and unaffected families, the team found that all of the domains that were assessed (except communication) were “internally consistent,” meaning that similar questions within the same domain of the PedsQL Family Impact Module tool produced similar scores . Because the measurement scales were reliable, the data showed that the presence of Barth syndrome imposes limitations and challenges that affect overall functioning of the entire family unit, indicating good “construct validity,” or the degree to which the question captures what it was intended to measure.

Take-Home Message: Use of survey assessment tools like the PedsQL Family Impact Module are critical for researchers, clinicians, and healthcare professionals like occupational therapists to gain insights into the broader consequences of chronic conditions like Barth syndrome on quality of life, the family dynamic, and identify unmet needs. Understanding subjective experiences can guide the development of targeted interventions or identification of comprehensive support service networks for the entire family.