According to their parents, children with fragile x syndrome experience the highest quality of life in physical functioning and the lowest in cognitive ability, a study shows.
The findings also revealed greater health-related quality of life (HRQoL) in families of females compared with those of males — which may due to the more severe impact of fragile X on boys and men.
The study, “Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome,” was published in the Journal of Autism and Developmental Disorders.
People with fragile x — the most common genetic form of autism — may experience intellectual disability, anxiety, aggression, sleep issues, hyperactivity, and social difficulties, among other complications. These clinical manifestations may contribute to a lower quality of life for affected children and their families.
The Pediatric Quality of Life Inventory (PedsQL) Measurement Model helps assess HRQoL in children and adolescents. Specifically, the PedsQL 4.0 Generic Core Scales aids in measuring HRQoL across physical, emotional, social, and school functioning, while the PedsQL Cognitive Functioning Scale helps test the impact of cognitive function on HRQoL.
In turn, the Family Impact Module Scale measures the impact of pediatric chronic health conditions on parents’ own HRQoL and the family’s overall functioning. Besides physical, emotional and social functioning, it also addresses cognitive functioning, communication, worry, daily activities, and relationships.
Now, researchers at Cincinnati Children’s Hospital Medical Center and the National Fragile X Foundation used these tools in surveying 355 parents of 364 youth with fragile X. Most surveys —80.8% — were completed by parents of males, with the remaining 19.2% done by parents of females.
The results indicated that most parents found that their children — regardless of age or sex — experienced the highest HRQoL in physical functioning and the lowest in cognitive functioning.
Females with fragile X had higher (better) scores in social functioning than males. Also, older children — those between ages 11 and 17 — had significantly higher scores for both school and cognitive functioning compared with younger children ages 5–10.
The team also found that families of females with fragile X had higher HRQoL compared with those of males with the disorder. According to the researchers, this may due to the less severe manifestations of the disease in females with fragile X.
Caregiver and family HRQoL scores were higher for older patients in comparison with those of younger patients. This is consistent with most studies in autism spectrum disorder, the researchers said.
“Overall, our PedsQL results provide a window into where the greatest perceived impairments are with [fragile X] and how those impairments affect the HRQoL of patients and their caregivers/families,” they said.
Future studies should better assess the reliability of these HRQoL instruments and track changes in quality of life throughout development in youth with fragile X, the team said. They also called for further testing of HRQoL in adults with this disorder.