Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

Abstract

Treatment recommendations for rare disorders often are limited by a lack of data from objective clinical trials. As a result, recommendations are often based on expert opinion. Because expert opinions sometimes conflict, many patients turn to the Internet for guidance from others who may have tried a treatment. The increasing numbers of patients and families who post opinions regarding outcomes allow for systematic data collection regarding specific treatments from the patient perspective. We used social media research methods to determine the opinions of family members or other caregivers regarding permanent removal of teeth for treatment of self-injurious biting (SIB) in patients with Lesch-Nyhan disease (LND), a particularly difficult treatment decision where expert opinion is divided. A content analysis of social media postings was used to systematically interpret caregiver posts about tooth extraction from families and other caregivers of patients with LND who posted comments regarding physical or emotional well-being after tooth extraction. A scale was used to rate all posted opinions. Scores ranged from 1 to 5, with 1 being completely negative and 5 being completely positive. 170 comments from 46 unique individuals were collected and scored by two raters. Inter-rater reliability, determined using a correlation coefficient across all postings, was 0.85, suggesting a high degree of reliability. The overall average caregiver sentiment score was 4.86, which is an overwhelmingly positive endorsement of tooth extraction as a means for controlling SIB. These methods provide a simple strategy for recommending treatment strategies based on real-world experience when objective clinical trials are unviable.

Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients

“…However, there is no high-quality evidence to support any drug treatment for SIBs. In nondrug therapy, pediatricians and patients’ caregivers also supported tooth extraction as one of the important means to control SIB ( James et al, 1989 ; Cotton et al, 2018 ), while dental experts preferred to rely on tooth protectors or lip protectors to reduce injuries ( Limeres et al, 2013 ). Jinnah et al suggested that rapid tooth extraction should be considered as part of the nursing standard when necessary ( Goodman et al, 2014 ).…”

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

“…The Internet again offers promising opportunities for lay people, including people living with RDs and their families, to find information, learn about and participate in research. In this context, social media networks and online patient communities have been consolidating their role as research engagement, recruitment, health information-sharing and discussion forums [8,[28][29][30][31][32]. This study's rationale relies on a double-sided hypothesis: (i) that a people-centric, multi-stakeholder, multilingual, web-based intervention in CDG-combining research empowerment and engagement strategiesimproves recruitment and participation, and; (ii) that this innovative methodology based on an e-questionnaire is an effective clinical data collection approach, namely in the field of immunology [10].…”