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

Amie Milunovich
Amie Milunovich

05 mins read

We are excited to share journal publications like this that resulted from FORWARD data. Many more papers are currently being developed, and the future of Fragile X syndrome research is bright as more data is gathered. FORWARD-MARCH is the next step, and we will collect more detailed information.

Summary

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 themselves 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. A total of 155 parents completed the questionnaires including the PedsQL on their child as part of the larger CDC-funded FORWARD study. Families participated from one of three sites: Cincinnati Children’s Hospital Medical Center, Rush University, and Children’s Hospital of Colorado. We observed significant relationships between HRQoL and measures of adaptive behavior, maladaptive behaviors, and social functioning. The present study has implications for treatment targets for FXS.

FULL ARTICLE

Coffman MC, Shaffer RC, Schmitt LM, Dominick KC, Pedapati E, Wang A, Berry-Kravis E, Tartaglia N, Erickson CA. Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome. Brain Sciences. 2020; 10(4):213. https://doi.org/10.3390/brainsci10040213

About the FORWARD-MARCH Registry & Database

Since 2012, the CDC has funded FORWARD Fragile X studies to expand understanding of Fragile X syndrome. The NFXF has been coordinating study efforts since the beginning and has been vital in ensuring its success.

FORWARD-MARCH is the next step and will collect more detailed information from participants to better understand FXS and improve the lives of children and adolescents with FXS and the lives of their families.

Learn more about FORWARD-MARCH and how to participate.

About the Author

Amie Milunovich

Amie joined the NFXF in 2015. She holds a bachelor’s degree in family and consumer science and is a SOCRA certified clinical research professional (CCRP). Amie has over 15 years of experience working in clinical research. She enjoys Bikram yoga, painting, cooking, and spending time with family and friends.