Caregivers share impact of Rett symptoms in survey

Communication, mobility, hand movements a priority in treatment, parents say

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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For caregivers of people with Rett syndrome, symptoms related to communication, mobility, and functional hand movements are the most important targets of treatment, according to a recent survey.

When asked about all the symptoms included on the Rett Syndrome Behavior Questionnaire (RSBQ) — a standard way of evaluating Rett symptoms — parents noted that they would consider a “meaningful change” to be one that eases a troublesome symptom or leads to substantial benefit in terms of their child’s physical, social, and emotional health, or their own psychological and social well-being.

The findings overall, “offered insights into the essential domains of life experiences of children with Rett syndrome and their caregivers,” the researchers wrote.

Scientists believe that data in turn can inform the development of better metrics for evaluating meaningful symptom changes in clinical trials and general practice.

The study, “Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers,” was published in the Journal of Child Neurology.

Rett syndrome is a multifaceted, progressive disorder marked by hallmark symptoms of verbal and motor skill loss, seizures, and behavioral disturbances.

The RSBQ is a standardized checklist used to evaluate these and other Rett symptoms. It assesses the presence of 45 symptoms across eight different domains. In addition to helping distinguish Rett from other disorders, the questionnaire is used in clinical trials as a way of monitoring a patient’s response to treatment.

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Change in symptoms leads to meaningful impact

Still, it isn’t established how much or what type of change in symptoms leads to meaningful impacts in the lives of patients and their caregivers.

To learn more, the researchers conducted semi-structured interviews with 40 Rett caregivers, specifically seeking their perspectives about the items on the RSBQ.

Certain symptoms emerged as being particularly bothersome for caregivers, such as teeth grinding, whereas others, like spells of unprovoked laughter, were not bothersome and were even considered joyful in some cases.

The researchers identified three themes that helped define the characteristics of bothersome symptoms. The first was relativity, that is, some symptoms were so troublesome that others paled in comparison.

For example, one interviewee noted, “Well, to see her smiling. I guess, in the scope of things, that’s not a high priority for us here. We’d rather worry about her seizures.”

Symptoms also emerged as troubling when they limited other abilities, and when they were longer-lasting, more frequent, or less predictable.

For caregivers, meaningful improvements in the RSBQ would mean that a symptom became less bothersome or a change led to added benefits for their child or themselves.

In terms of the patients, meaningful improvements could fall into a number of different domains relating to the patient’s physical, social, or psychological well-being.

For example, a meaningful reduction in symptoms might mean a child feels less isolated and more socially engaged.

“It would mean that she would never feel lonely and that she would feel connected,” one caregiver noted in their interview. “And that’s what we all yearn for, is connectedness, in my opinion.”

Improved hand function, communication

Caregivers also frequently mentioned a desire for their child to have improved hand function that would help promote their independence in daily activities.

Improvements in communication were also noted as an important gain, which ranged from the ability to speak or write to more minor gains, such as an ability to point, but caregivers generally believed that better communication would help their child feel more understood.

In terms of the caregivers themselves, meaningful improvements fell into either of two main categories — social and psychological implications.

A social benefit would be to see changes in their child that made it easier for them to cope with caregiving and to feel less burdened, get more sleep, and do more activities outside the home.

Psychological benefits may include feeling happier with life, less worry, frustration, or embarrassment.

Improved communication and responsiveness could help caregivers feel like they’re better meeting their child’s needs.

When asked what improvements they most wanted to see in their child should treatment be available, the most common answers were ability to communicate, greater mobility, and better functional hand use.

Altogether, the researchers believe these caregiver reports can be used to develop better ways of evaluating symptom reductions in Rett, particularly in the context of clinical trials.

“Their thoughts, specific to Rett syndrome, might be used to craft quantitative measures of meaningful change for application in future studies,” the scientists noted.

“The results reported here can also inform the clinical practitioners treating individuals with Rett syndrome and their families,” the team concluded.