Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome.

Marika C Coffman,Kelli C Dominick,Rebecca C Shaffer,Lauren M Schmitt,Nicole Tartaglia,Ernest Pedapati,Elizabeth Berry-Kravis,Angel Wang,Craig A Erickson

doi:10.3390/brainsci10040213

Abstract

Health-related quality of life (HRQoL) is a multidimensional concept involving physical, psychological, social, and cognitive aspects of life. Individuals with Fragile X syndrome (FXS) experience a life-long disorder that impacts the HRQoL of the affected individual and their family. Thus, HRQoL may be an important outcome measure following intervention. However, it is yet not known whether HRQoL concerns relate to observed impairments in FXS. In the present study, we examined the nature and degree of association between HRQoL and established measures of functioning in FXS using the Parent Report for Children version of the PedsQL 4.0 Generic Core Scales and Cognitive Functioning Scale. We observed significant relationships between HRQoL a nd measures of adaptive behavior, maladaptive behaviors, and social functioning. The present study has implications for treatment outcomes for clinical trials in FXS.

Highlights

Fragile X syndrome (FXS) is a complex neurodevelopmental disorder, associated with a heterogeneous presentation of significant impairments across cognitive, language, sensory, behavioral, and emotional domains
Independent samples t-tests between the current sample and previously reported scores revealed that parents who reported on their child’s quality of life through an online survey reported significantly lower QoL than parents who brought their children with FXS in for a clinic visit (Table 2)
We found that parent report on the PedsQL was significantly correlated with adaptive functioning, social impairment, and aberrant behavior

Summary

Introduction

Fragile X syndrome (FXS) is a complex neurodevelopmental disorder, associated with a heterogeneous presentation of significant impairments across cognitive, language, sensory, behavioral, and emotional domains. Individuals with FXS often present to clinical settings for numerous concerns, including intellectual disability (ID), hyperarousal to sensory stimuli, anxiety, aggression, sleep issues, hyperactivity, and social and communication difficulties, among others [1]. These common clinical issues associated with FXS can have a lifelong impact on the. Brain Sci. 2020, 10, 213 quality of life (QoL) of the child and family, indicating QoL may be an important outcome measure following intervention [2] It is not known whether the level of QoL concerns is associated with severity of impairments in FXS. Health-related quality of life (HRQoL) is a more specific, multidimensional concept involving physical, psychological, social, and cognitive aspects of life [3,4]

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Conclusion