Abstract

Objective: To evaluate adolescent perceptions of healthcare services for Inherited Metabolic Disorders (IMDs) and genetic diseases in a tertiary pediatric hospital, identifying key elements for tailoring care to this unique patient group.

Patients and Methods: A survey comprising 29 questions, adapted from a validated tool, was distributed to adolescent patients (aged 12–18 years) with IMDs or genetic disorders at the Pediatric Hospital "Giovanni XXIII" of Bari (Italy). Data collection occurred between January and June 2022. Key domains included communication and information, facility quality, waiting times, visit durations, and illness experience. Descriptive statistics were employed, and statistical significance was set at p<0.05.

Results: Among 40 eligible participants, 27 completed the survey (response rate: 67.5%). Satisfaction was highest in communication and information (69.2%) and illness experience (69.8%), whereas waiting times received the lowest ratings (55.3%). Facility quality was rated positively overall (64.7%), with suggestions for improvements in personal spaces and age-appropriate facilities. More than half of respondents advocated for the inclusion of psychologists and patient association representatives in the care team. Notably, 62.3% supported teleconsultations, and 70.4% endorsed social media for improving disease management. Satisfaction levels did not significantly vary by age or hospital proximity.

Conclusions: Adolescents generally perceive hospital services positively but highlight areas for improvement, including reduced waiting times, expanded multidisciplinary care, and the introduction of telemedicine. Addressing these needs could enhance engagement and ensure adolescent-friendly healthcare services in IMD management.