Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

Abstract

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-person interviews with ten parents to identify psychosocial stressors, strategies, and supports they utilized to overcome their challenges. Our interview guide was designed to elicit familial experiences during the pre- and post-diagnosis periods. The themes and sub-themes were identified through qualitative descriptive textual analysis of audio-recorded transcripts. Major themes identified include ambiguity of illness, changing family and spousal dynamics, and navigating the healthcare system. Sub-themes revolved around disease effects, psychological stressors, health systems, support, and facing the disease. Healthcare professionals have an opportunity to minimize the impact of negative emotional outcomes by assisting families as they navigate the experience of having a child with an IEM. Our findings can be used to develop and continue a more well-rounded, family-oriented framework for IEM management.

Evaluating psychosocial stressors in families of children with inborn errors of metabolism

“…Furthermore, while Rajasekar et al [ 2 ] provide important information about parents in Canada, their results may not be fully generalizable to parents in other locations. For example, financial support for medical bills and access to care, particularly at centers of excellence, can vary significantly between countries which may affect outcomes for the entire family [ 5 , 7 ].…”

“…Since the well-being of the family can impact the well-being of patients, excellent care for patients must include recognition and support for the family [ 1 ]. In their recent study, Rajasekar et al [ 2 ] provide an important description of several psychosocial stressors experienced by parents of children with IEMs; however, some additional questions and implications must be considered.…”

“…Rajasekar et al [ 2 ] reported that several parents experienced anxiety, emotional distress, decreased social contact, and other psychosocial stressors. However, the authors did not quantify the specific stressors identified in the study.…”

“…Although Rajasekar et al [ 2 ] interviewed parents of children under the age of ten, they did not specifically note the ages of the children. How old were the children at diagnosis, and how much time elapsed between diagnosis and data collection?…”

“…While Rajasekar et al [ 2 ] sought to identify common challenges associated with various metabolic disorders, the considerable heterogeneity of IEMs may cause psychosocial outcomes to differ significantly between conditions [ 9 ]. Certain factors, such as neurobehavioral issues and complex care needs, may contribute more heavily to emotional distress than other factors.…”