Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study...

Background: Genetic testing is increasingly part of the diagnostic pathway of congenital hearing loss (CHL), clarifying etiology and supporting clinical management. However, its psychosocial impact, especially differences between syndromic and non-syndromic conditions, remains underexplored. Objectives: This study evaluated the differential psychological impact of genetic diagnosis in syndromic versus non-syndromic pediatric patients, its relationship with clinical and rehabilitative variables, and the role of post-diagnostic psychological assessment. Methods: A cross-sectional post-diagnosis survey was conducted in families of children with genetically confirmed syndromic (Usher syndrome, n = 21) and non-syndromic (GJB2-related, n = 21) CHL; a total of 37 families responded. Parental empowerment was assessed using an Italian translated version of the Genetic Counseling Outcome Scale (GCOS-24). In an exploratory analysis, GCOS-24 items were grouped into three author-derived domains (understanding/awareness, emotional experience, and informational support) based on semantic content, not validated psychometrically. Results: No significant differences in GCOS-24 scores emerged between groups, nor in relation to clinical variables like hearing loss severity, auditory outcomes, or rehabilitative interventions. Genetic diagnosis occurred later in the syndromic group. Qualitative observations suggested parental empowerment varied with timing of diagnosis, clarity of information, and therapeutic alliance quality. Conclusions: Overall, these results highlight the importance of integrating psychological support and structured communication into clinical pathways to support families and patients in understanding and adapting to the diagnosis over time. Further longitudinal studies are needed to clarify the evolving psychosocial impact of genetic diagnosis in CHL.