Development and validation of an evidence-based otorhinolaryngological care protocol for patients with achondroplasia: a pilot study

OBJECTIVE: To develop an evidence-based otorhinolaryngological care protocol for patients with achondroplasia, and to evaluate its content validity and clinical applicability through expert assessment and pilot testing. METHODS: This methodological study was conducted in three stages. Initially, this evidence-based protocol was developed based on a literature review of the most prevalent otorhinolaryngological manifestations in patients with achondroplasia, utilizing the PRISMA guidelines. guidelines for systematic reviews. Second, content validation was performed by a panel of three specialists (a pediatrician, a geneticist, and an otorhinolaryngologist) and conducted in two consecutive rounds using a structured questionnaire on the Google Forms platform. The questionnaire employed the Likert scale and the CVI (Content Validity Index). Third, a pilot application of the protocol was conducted in four patients aged 2-10 years, with confirmed diagnosis of achondroplasia, followed at a tertiary outpatient clinic, to assess feasibility, clarity, and applicability in clinical practice. RESULTS: The protocol provides systematic and comprehensive data collection, including clinical history, otorhinolaryngological examination, and complementary assessments. Content validation demonstrated high agreement among experts, with a CVI of 0.91, indicating excellent clarity, relevance and applicability. At pilot phase, the protocol proved to be feasible and easy to apply, with an average application time of 34-minutes. CONCLUSION: The proposed protocol is an evidence-based, feasible, and clinically applicable tool that supports standardized otorhinolaryngological assessment in patients with achondroplasia. Its implementation may contribute to early identification of complications, guiding appropriate therapeutic decision-making, improving the quality of care and providing a rich database for future research. LEVEL OF EVIDENCE 4/5: This methodological study involved the development of an evidence-based clinical protocol, expert content validation, and pilot application in a clinical setting, without a comparative or interventional design.