Lower Quality of Life Linked to Behavioral Problems in Fragile X Children, Parents Report

Poorer health-related quality of life (HRQoL) correlate with greater emotional, behavioral, and school problems in children with fragile X syndrome, according to a study involving parent questionnaires.

The study, “Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome,” was published in the journal Brain Sciences.

Fragile X, the most common genetic form of autism, may have lifelong effects on the quality of life of affected children and their families. Therefore, assessing a patient’s HRQoL may be important to determine the efficacy of medical interventions.

However, whether HRQoL correlates with the observed impairments in people with fragile X is not yet known.

In the study, researchers at Cincinnati Children’s Hospital Medical Center and their colleagues evaluated the extent that HRQoL affects established functional parameters in children with fragile X.

They looked at the correlation between HRQoL and parent reports on the Pediatric Quality of Life Inventory (PedsQL) Measurement Model, specifically the PedsQL 4.0 Generic Core Scales that assess HRQoL across physical, emotional, social, and school functioning. They also explored the link between HRQoL and the PedsQL Cognitive Functioning Scale that tests cognition.

In addition, the researchers evaluated whether HRQoL is associated with adaptive behavior (using the Vineland-3 scale), social behavior (using the Social Responsiveness Scale–Second Edition, SRS-2), and aberrant behaviors as assessed via the Aberrant Behavior Checklist (ABC-C), which is a 58-item caregiver questionnaire focused on behavior difficulties commonly seen in individuals with developmental disabilities. Irritability, social withdrawal, stereotypy (purposeless repetitive movements), hyperactivity, and inappropriate speech are the five ABC-C subscales.

In total, 155 parents completed the questionnaires. Their children’s mean age was 15.4 years.

Researchers first assessed how parent ratings of children’s HRQoL compared between those who completed the questionnaires online and those who brought their children in for clinic visits.

Results showed that parents who responded online reported significantly lower QoL than those of children seen in clinic. Significant differences were seen across social, school, and emotional scores.

This may be linked to the fact that “children who are able to attend clinic visits may have higher functioning generally than those who complete an online survey,” the researchers wrote. Also, the observation that children who attended the clinic were older than those from the online survey supports prior findings that being older is associated with better HRQoL, they said.

The highest HRQoL scores (meaning better quality of life) were seen on the physical and emotional scales, followed by school functioning. Social measures were the most affected. This was consistently seen in both online surveys and clinic visits.

As for adaptive behavior in the children, the investigators found associations between better HRQoL and each domain on the Vineland-3 scale, including improved social life, communication, and daily living skills.

The strongest link was seen in the physical domain of the PedsQL, with better physical domain scores linked with greater self-care ability. The researchers saw no significant sex differences in HRQoL domains, despite the fact that males with fragile X usually demonstrate greater impairments than females.

Older children experienced better functioning in school, their parents reported.

These results also suggest that “the PedsQL is a promising measure of child QoL in FXS [fragile X syndrome],” the researchers wrote, being “highly related to psychological and behavioral facets of the disorder typically studied in intervention trials for FXS.”