“Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome” Article Summary
The purpose of this article was to evaluate the quality of life in children with fragile X syndrome using the Pediatric Quality of Life Inventory. The population studied in this article was comprised of children between the ages of 5 and 17 years old who have full mutation fragile X syndrome.
Parents of children with fragile X syndrome completed the PedsQL online using SurveyMonkey. They were selected for the study through a nationwide email sent by the National Fragile X Foundation. Parents completed the Parent Report for Children Version of the PedsQL 4.0 Generic Core Scales and Cognitive Functioning Scale as well as the PedsQL Family Impact Module. Researchers stated that the strongest correlation that was found was between the caregiver quality of life and family quality of life. Between the five dimensions of health for the child they stated that the strongest correlation found was between Cognitive and School functioning and the weakest correlation was between Cognitive and Physical functioning. Overall the children represented in this study had the highest quality of life or function in the Physical functioning category with quality of life decreasing in order in the following categories: Emotional functioning, School functioning, Social functioning, and Cognitive functioning.
One strength of this study was that they were able to include a large number of participants as they had 350 responses to their survey, and they conducted this study in a population in which health-related quality of life had not yet been studied. They also included good suggestions for future research and populations that this research could be compared to. The limitations of this article include that the participants self-reported an FXS diagnosis which researchers were unable to verify. Researchers also did not compare the participants to a typically developing healthy control group and were unable to get a response from the child themselves rather than a response from their parent.
The PedsQL may be an important tool in helping develop an effective treatment for improving quality of life in children with FXS as well as their families and caregivers, as researchers reported that one difficulty in developing treatment is the lack of having identified an appropriate standardized outcome measure. In this study it was shown that subjects had a strong correlation between Cognitive and School functioning and the weakest correlation demonstrated between variables was between Cognitive and Physical functioning. Children were shown to have the highest quality of life in the Physical functioning category, with decreasing quality of life in Emotional functioning, School functioning, Social functioning, and finally the lowest reported quality of life in Cognitive functioning.
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According to the Centers for Disease Control and Prevention (CDC), the genetic disorder Fragile X Syndrome (FXS) is initiated by modifications in a gene referred to as the “fragile X mental retardation (FMR1) gene”. This FMR1 gene tends to create a protein that is required for “normal brain development” which is not made in those who have FXS. Females and males can both be affected by FXS although milder symptoms are more typical of females than their male counterparts.
Source: https://www.cdc.gov/ncbddd/fxs/facts.html
I feel that it is imperative that we acknowledge QOL as an outcome measure for pediatric populations. This information could be great for analyzing goals and to incorporate in an interdisciplinary environment (especially in the school system).