Different domains used to assess quality of life in children with Rett syndrome also may be useful for adults, a study suggests.
The study, “Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome,” was published in the journal Disability and Rehabilitation.
Rett syndrome is a rare genetic disease caused by mutations in MECP2 gene. Mostly affecting girls, the disease leads to severe intellectual disability, including impaired verbal language, hand functions and mobility. In addition to that, other complications such as epilepsy, sleep disturbances, gastrointestinal disorders and scoliosis are characteristic of the disease.
Recent research into patients’ quality of life has been focused on children with Rett syndrome, but “there has been no investigation of domains important for adults,” the researchers prefaced in the study.
However, understanding how patients perceive their quality of life is key to improve patient care and management. While for healthy individuals quality of life can be assessed by evaluation of physical health, well-being, and life experiences, patients with disabilities experience other difficulties, such as chronic pain, which also must be taken into account.
Researchers evaluated quality of life in a group of adults with Rett syndrome and compared the results to methods used to evaluate children with the same syndrome.
Twenty patients (all female, age range 18-41 years) with a genetically confirmed diagnose of Rett syndrome registered at the Australian Rett Syndrome Database were recruited. Sixteen parents (mothers) also were invited to participate. Researchers conducted semi-structured interviews via telephone that lasted between 40 and 88 minutes.
Ten domains that had an impact on the life of these patients were identified, based on the interviews.
Regarding the “health and well-being” category of domains, physical health, body pain and discomfort, behavioral and emotional well-being were the most recurrent elements.
During interviews the team determined that constipation often was reported to persist from childhood into adulthood and it was a source of pain and discomfort for women. In some patients, sleep disturbances also persisted into adulthood, affecting mood and willingness to participate in daily activities. Additional health issues included breath-holding and recurrent urinary tract infections.
The “daily activities” domain included communication skills, movement and mobility, and stability of daily routines. The use of motor and other functional ability skills, like the ability to move freely in water, raised expressions of satisfaction. Daily routines had some importance, with patients appearing more relaxed and less anxious if following certain routines. “Most of the adults could adapt to change in their routines if required, but some familiarity provided comfort and reassurance, and they remained more relaxed and exhibited fewer fearful or anxious behaviors,” the researchers wrote.
Social connectedness was identified as one of the most important domains within the “community immersion and services” category of domains. Patients enjoyed community participation and engaging with family members and their caregivers.
Regarding the provision of targeted services, caregivers noted that “regular communication with service providers was essential to ensure timely attention” to patients’ needs. However, many caregivers noted a decline of services’ quality once patients became adults, which had a negative impact on patients’ well-being.
Lack of funding, problems with urgent medical care access, and the lack of a multidisciplinary team that follows young adults with Rett syndrome were identified as barriers for improving patients’ quality of life.
Overall, “the data provided in this study will inform the choice of a suitable QOL [quality of life] measure for this group,” the researchers wrote.
Moreover, the Quality of Life inventory-Disability inventory developed for children with Rett was found to be appropriate for adults with the disease.
“Use of this measure could guide clinicians in identifying the need for supports and services and aid in the provision of life-long and individualized management strategies to promote a good QOL for women with [Rett syndrome],” they concluded.