Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

Area of Science:

• Health Sciences
• Quality of Life Research
• Disability Studies

Background:

• No validated oral health-related quality of life (OHRQOL) instrument exists for individuals with severe intellectual and developmental disabilities who communicate non-verbally.
• Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder.
• Understanding the specific OHRQOL impacts in RTT is essential for developing appropriate assessment tools.

Purpose of the Study:

• To explore the domains important to the oral health-related quality of life (OHRQOL) in individuals with Rett syndrome (RTT).
• To identify the impacts of oral health on patients with RTT and their families.
• To inform the development of targeted OHRQOL measures for this population.

Main Methods:

• Qualitative study utilizing directed content analysis.
• Purposive sampling of parents of individuals with a confirmed MECP2 mutation in the Australian RTT database (n=31).
• Recorded interviews exploring experiences of oral problems and their impacts on the child and family.

Main Results:

• Seven domains identified impacting the child: discomfort, pain, eating, activities of daily living, emotional well-being, social well-being, and service provision.
• Five domains identified impacting the family: emotions, activities, family function, conflict, and morale/self-efficacy.
• Findings highlight the multifaceted nature of oral health impacts in RTT.

Conclusions:

• The study identified crucial domains for assessing OHRQOL in individuals with RTT.
• These findings provide a foundation for developing validated OHRQOL instruments for non-verbal individuals with RTT.
• Improved OHRQOL assessment can lead to better targeted interventions and support for patients and families.