Parents of Rett Patients Report Reduced Quality of Life, Family Functioning

According to their parents, children with Rett syndrome have diminished quality of life (QoL) across all measured dimensions, a study found.

In the study’s parent-reported assessments, the neurodevelopmental disorder was associated with reduced family functioning, and with physical, emotional, and psychological symptoms that impact the children’s well-being and quality of life.

“To provide adequate support to children with [Rett syndrome] and improve their QoL, it is first necessary to identify their needs and expectations,” the researchers wrote. “By providing appropriate assistance and targeting individual problems in such children, we can help improve their well-being and QoL.”

The study, “Clinical presentation of Rett syndrome in relation to the quality of life and family functioning,” was published in the Journal of International Medical Research.

Children with Rett — almost exclusively girls — usually experience regression or the loss of previously acquired skills, beginning in some patients as early as 6 months of age. While symptoms vary widely, most patients will lose their ability to walk and to communicate over time.  

Thus, the parents and families of Rett patients are instrumental in providing support and advocating for appropriate care. 

To learn more about the dynamics of Rett, researchers at Wroclaw Medical University, in Poland, now evaluated the disease’s impact on quality of life and family functioning, from the perspective of the parents of children with Rett. 

Family functioning and QoL were assessed using the generic Pediatric QoL Inventory (PedsQL), the PedsQL Family Impact Module, and a researcher-developed questionnaire. The PedsQL assessments are scored on a 0 to 100 scale, where higher scores indicate better QoL.

Between January 2018 and February 2019, the parents of 23 patients participated in the university study. The children ranged in age from 2 to 12, with a mean age of 7.22 years. Symptoms emerged at an average age of 1.2 years, and patients were diagnosed at an average age of 3.5 years. 

Of the 23 patients involved in the study, 14 (60%) could move without assistance, while nine (40%) required mobility assistance. Respiratory problems were reported in 20 patients (87%), while malnutrition occurred in 18 patients (78%). A total of 10 children (43%) had epilepsy and three (13%) had scoliosis.

The mean total PedsQL score reported by parents was 45.43 out of 100, indicating a low overall quality of life. The parameter with the highest score was emotional functioning, with a total score of 58.26, while the lowest score was physical functioning at 30.43. 

Notably, the PedsQL score was significantly associated with the child’s age in the physical functioning dimension. Specifically, patients ages 8 to 12 had significantly higher scores than younger patients.

“In our study, the parents of children aged 8 to 12 years functioned better than parents of children aged 2 to 4 years in all QoL dimensions. This probably stems from the fact that acceptance of their child’s illness grows over the years,” the researchers wrote.

The mean family functioning score was 50.94 out of 100. The highest scores were seen with “family relationships” at 69.78 and “cognitive functioning” parameters at 66.30. Meanwhile, the lowest scores were seen with “daily activities” at 34.06 and “worry” at 37.39. No significant correlations were found between this score and the age of the children.

Interestingly, while epilepsy and scoliosis did not have a significant impact on any family functioning dimensions, malnutrition significantly affected family relationships.

According to their parents, 10 patients (43%) participated in 5-10 hours per week of rehabilitation activities, five (22%) in 10-15 hours, and five (22%) in up to five hours. 

Patients who spent more than 10 hours a week in rehabilitation programs had significantly higher QoL in terms of physical functioning, compared with those receiving five to 10 hours of rehab. In contrast, patients receiving up to five hours of rehabilitation treatment per week had significantly higher QoL in school functioning than children who spent more than 10 hours in rehabilitation.

“Overall, children with [Rett] had significantly poorer QoL in all instrument dimensions, with the social well-being dimension of QoL being the poorest,” the researchers wrote.

Rett “is a disorder that ‘robs’ parents of their healthy child, and parents must face the challenge of watching their child regress rather than develop normally. Undoubtedly, psychological support provided to the caregivers of children with [Rett], especially in the early diagnosis stage, is of great importance,” they added.

The team noted a few limitations to the study, namely its small sample size and observatory nature, as well as the use of a generic rather than a Rett-specific questionnaire. Further studies are therefore needed. 

“Advancing our understanding of QoL in [Rett], including of the contributing factors at different ages, is of great importance for clinical practice and emerging drug trials,” the team added.