Families say access to dental care can improve quality of life

Better access to dental care and resources can improve quality of life for girls with Rett syndrome, according to their parents.

Parents interviewed for a study on oral health-related quality of life (OHRQOL) also said their own motivation and empowerment to address their daughters’ oral healthcare concerns affected overall life quality. These areas aren’t included in existing measures of OHRQOL, and the study results may contribute to developing targeted and validated OHRQOL measures for people with Rett, the researchers said.

“This study is valuable to practitioners who work with individuals with genetic disorders, with the increased recognition of the role of interprofessional collaboration in highlighting the importance of OHRQOL,” the researchers wrote.

The study, “Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis,” was published in the American Journal of Medical Genetics – Part A.

Rett syndrome is caused mainly by mutations in the MECP2 gene, which provides instructions to produce a protein that regulates the activity of other genes. The MeCP2 protein plays an important role in brain development and function. Teeth grinding, or bruxism, is common in people with Rett.

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Dental care and developmental disabilities

“No validated oral health-related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non-verbally,” such as people with Rett, the researchers wrote. The definition of OHRQOL they used for the study was “the impact of oral disorders on aspects of everyday life that are important to patients and persons, with those impacts being of sufficient magnitude, whether in terms of severity, frequency or duration, to affect an individual’s perception of their life overall.” 

The researchers aimed to determine the areas affecting OHRQOL that are important for people with Rett. They conducted interviews with 31 parents of daughters with a confirmed MECP2 mutation in the Australian Rett database.

The Rett patients ranged in age from 6 to 40, with a mean age of 20.5. Most families had dual parents (80.6%), and 19.4% were single-parent families. Parents’ mean age was 52.2.

Interviews were conducted over the phone or Zoom and lasted from 30 minutes to two hours, and were designed to address the impact of the Rett patient’s oral health on the patient’s and the family’s quality of life. Questions included, “What kinds of things do you (and your child) need for a good oral health related quality of life?” and “Could you please tell me and explain whether or not and how your child’s oral health affects the family’s activity?”

Parents’ concerns included discomfort related to infections, ulcers, and sensitivity; pain, including the ability to communicate pain; the ability to eat and maintain a healthy and varied diet; impact on activities of daily living; and emotional and social well-being. These are areas included in existing OHRQOL measures.

Emotional well-being pertained to behaviors such as crying or restlessness that parents attributed to oral pain or discomfort. Social well-being involved social acceptance and social avoidance or withdrawal from others.

Parents identified new elements, under the existing categories of discomfort and pain, that affected their daughters’ OHRQOL. These included changes in patterns of bruxism, repetitive movements and seizures, and the use of pain relief.

The study also turned up two categories not represented in existing OHRQOL measures: Services such as access to informed dental service providers, interdisciplinary support for oral healthcare, and resources for at-home mouth care; and morale and self-efficacy to facilitate oral healthcare, or the family’s motivation and empowerment to identify and address oral health concerns.

“Future research directions could build on these findings by developing validated tools for assessing OHRQOL in nonverbal populations with [intellectual and developmental disability] using co-design with families and healthcare practitioners,” the researchers wrote.