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

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.

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.

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.

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.