Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review

Abstract

To assess the quality of life (QoL) of children in Japan with inborn errors of metabolism (IEM) as well as of their parents, we reviewed 23 previous studies published in Japanese and 1 published in English, focusing on the difficulties they encounter in daily life, the factors associated with these difficulties, and their QoL. We divided the difficulties and associated factors into three developmental stages. At the infant stage, individuals with IEM tend to be at high risk of hypercatabolism. Their parents suffered anxiety and distress because of the child's diet therapy and regarded the parents' support group as an essential presence, particularly given that IEM is a rare disease. At the school-age stage, as their sphere of social relationships expanded, children with IEM became nervous about being compared with healthy children of their own age because of their diet therapy. At the adolescence-to-adulthood stage, the children suffered medically, economically, and socially. Even in the absence of any IEM symptoms, the children's QoL was affected by the demands associated with the metabolic disorder, such as diet and treatment. The psychological health of their caregivers was also poor. To improve the QoL of children with IEM and of their parents, future comprehensive quantitative and qualitative studies of their QoL and of their subjective support needs are required. Additionally, the specific factors related to the QoL of such individuals need to be explored in large population-based statistical studies.

Quality of Life and Associated Factors in Japanese Children With Inborn Errors of Metabolism and Their Families

“…For primary caregivers of children with IEM, the responsibility of managing the child’s health must be included in the parental role, and this might result in considerable distress for them. Referring to the results of our literature review, 6 we consider that the small number of clinical doctors specializing in IEM and the lack of information about raising a child with IEM are also related to parental distress. It is also known that parents feel guilty about passing on a genetic disease, 3 and this contributes to their distress.…”

“…To assess the characteristics of primary caregivers and the factors predicting their QoL, our survey included items devised from both previous literature, studying QoL of other chronic conditions, [21][22][23] and our own literature review. 6 The characteristics of primary caregivers (1) are shown in Table 3. Predictive factors of primary caregivers' QoL (2) were described by the following 12 items: the age of IEM onset in children, number of IEM-related hospital visits per year, difficulties related to raising a child with IEM, anxieties related to raising a child with IEM, degree of distress related to caring for a child with IEM, information resource of their child's disease and treatment, satisfaction in the relationship with the child with IEM, satisfaction in the relationships within the family, household income, and degree of social acceptance and understanding shown to the child with IEM.…”

“…In other countries, some studies on the QoL of patients with IEM and their parents have been conducted. [5][6][7] In Turkey, the researcher reported that children with IEM and poor dietary compliance had lower scores in 2 aspects of QoL: school life and disease perception. 5 In our previous literature review, we found that Japanese children with IEM and their parents faced various difficulties in daily life, through infancy to adolescence and young adulthood.…”

“…5 In our previous literature review, we found that Japanese children with IEM and their parents faced various difficulties in daily life, through infancy to adolescence and young adulthood. 6 We then hypothesized that QoL would be affected and impaired by IEM for both children and their families.…”

The quality of life of people with rare inborn errors of metabolism and their caregivers

“…Natomiast w rodzinach dzieci chorych na PKU lub galaktozemię wykazano znacznie lepszą HRQoL niż u rodziców dzieci z innymi wadami metabolicznymi [23]. Nawet w przypadku braku objawów IEM u dzieci konieczność stałej kontroli diety negatywnie wpływała jednak na zdrowie psychiczne opiekunów [24]. Stwierdzono także niższą QoL u rodziców dzieci z IEM, które wymagają restrykcyjnej diety, w porównaniu z rodzicami dzieci z anemią sierpowatą lub zespołem Downa [22,23,25,26].…”