Marta Fantoni

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.

Early identification and treatment of hearing impairments are essential for children's development. International guidelines recommend a stepwise approach to conduct hearing screening in newborns. However, while the majority of countries worldwide implemented universal newborn hearing screening, inconsistencies remain in procedures and data management. In particular, Level 3 of the screening pathway-comprising diagnostic confirmation and therapeutic management-has received limited attention in the literature, despite its central role in determining program effectiveness and patient outcomes. This study investigates the clinical and organizational aspects of Level 3 within the neonatal hearing screening program of the Friuli-Venezia Giulia Region in Italy, analyzing data from 106 children enrolled between 2019 and 2023. The analysis considers the regional protocol, the roles of birthing centers, pediatricians, hospitals, and the Regional Center for Pediatric Hearing Loss Care, and subdivides Level 3 into four Phases (A-D) reflecting both organizational and diagnostic functions. By examining patient flow, false positives, loss to follow-up/documentation, and management practices, the study highlights how organizational factors-particularly the coordination between local and specialized facilities-produce "cascade" outcomes directly affecting diagnostic timelines and treatment initiation. Findings provide critical insights into weaknesses of the current system and propose directions for improving program efficiency, accuracy, and overall quality of care.

The first year of life is considered a sensitive period for the acquisition of phonetic categories, a hallmark of successful native language specialization. The extent to which this process depends on early auditory experience and intrinsic biological constraints remains unresolved. We measured neural encoding of continuous natural speech in hearing children (HC) and cochlear implant (CI) users with congenital or acquired deafness, contrasting children with and without access to auditory input in the first year of life. Speech encoding was present across all groups, but its specificity depended on early input: auditory phonetic features were encoded only in children exposed to speech within the first year, whereas visually discriminable phonetic features were encoded regardless of auditory deprivation. These findings show that early sensory input gates phonetic attunement; this constraint is not limited to or grounded in audition but instead reveals a sensitive period that is modality-flexible in mechanism and experience-dependent in expression.

Early identification and treatment of hearing impairments are essential for children’s development. International guidelines recommend a stepwise approach to conduct hearing screening in newborns. However, while the majority of countries worldwide implemented universal newborn hearing screening, inconsistencies remain in procedures and data management. In particular, Level 3 of the screening pathway—comprising diagnostic confirmation and therapeutic management—has received limited attention in the literature, despite its central role in determining program effectiveness and patient outcomes. This study investigates the clinical and organizational aspects of Level 3 within the neonatal hearing screening program of the Friuli-Venezia Giulia Region in Italy, analyzing data from 106 children enrolled between 2019 and 2023. The analysis considers the regional protocol, the roles of birthing centers, pediatricians, hospitals, and the Regional Center for Pediatric Hearing Loss Care, and subdivides Level 3 into four Phases (A–D) reflecting both organizational and diagnostic functions. By examining patient flow, false positives, loss to follow-up/documentation, and management practices, the study highlights how organizational factors—particularly the coordination between local and specialized facilities—produce “cascade” outcomes directly affecting diagnostic timelines and treatment initiation. Findings provide critical insights into weaknesses of the current system and propose directions for improving program efficiency, accuracy, and overall quality of care.

Early identification and treatment of hearing impairments are essential for children’s development. International guidelines recommend a stepwise approach for conductive hearing screening in newborns. However, while the majority of countries around the world implemented universal newborn hearing screening, inconsistencies remain in terms of procedures and data management. In particular, Level 3 of the screening pathway—comprising diagnostic confirmation and therapeutic management—has received limited attention in the literature, despite its central role in determining program effectiveness and patient outcomes. This study investigates the clinical and organizational aspects of Level 3 within the neonatal hearing screening program of the Friuli-Venezia Giulia Region in Italy, analyzing data from 106 children enrolled between 2019 and 2023. The analysis considers the regional protocol, the roles of birthing centers, pediatricians, hospitals, and the Regional Center for Pediatric Hearing Loss Care, and subdivides Level 3 into four Phases (A–D) reflecting both organizational and diagnostic functions. By examining patient flow, false positives, loss to follow-up/documentation, and management practices, the study highlights how organizational factors—particularly the coordination between local and specialized facilities— produce “cascade” outcomes directly affecting diagnostic timelines and treatment initiation. Findings provide critical insights into weaknesses of the current system and propose directions for improving program efficiency, accuracy, and overall quality of care.

Background: Ear advantage (EA) reflects hemispheric asymmetries in auditory processing. While a right-ear advantage (REA) for speech and a left-ear advantage (LEA) for music are well documented in typically developing individuals, it is unclear how these patterns manifest in young children with cochlear implants (CIs). This study investigated whether pupillometry could reveal asymmetric listening efforts in toddlers with bilateral CIs when listening to speech and music under monaural stimulation. Methods: Thirteen toddlers (mean age = 36.2 months) with early bilateral CIs participated. Pupillary responses were recorded during passive listening to speech and music stimuli, presented in quiet or with background noise. Each child was tested twice, once with only the left CI active and once with only the right CI active. Linear mixed-effects models assessed the influence of session (left/right CI), signal type (speech/music), and background noise. Results: A significant interaction between session and signal type was observed (p = 0.047). Speech elicited larger pupil sizes when processed through the left CI, while music showed no significant lateralized effects. Age and speech therapy frequency moderated pupil responses in speech and music trials, respectively. Conclusions: Pupillometry reveals subtle asymmetric listening effort in young CI users depending on the listening ear, suggesting early emerging functional lateralization despite sensory deprivation and device-mediated hearing.

Lip-reading, i.e., the ability to recognize speech using only visual cues, plays a fundamental role in audio-visual speech processing, intelligibility, and comprehension. This capacity is integral to language development and functioning; it emerges in early development, and it slowly evolves. By linking psycholinguistics, psychophysics, and neurophysiology, the present narrative review explores the development and significance of lip-reading across different stages of life, highlighting its role in human communication in both typical and atypical development, e.g., in the presence of hearing or language impairments. We examined how relying on lip-reading becomes crucial when communication occurs in noisy environments and, on the contrary, the impacts that visual barriers can have on speech perception. Finally, this review highlights individual differences and the role of cultural and social contexts for a better understanding of the visual counterpart of speech.

Background/Objectives: Unilateral hearing loss (UHL), particularly single-sided deafness (SSD), disrupts spatial hearing in children, leading to academic and social challenges. This study aimed to (1) compare azimuthal sound-localization accuracy and compensatory strategies between children with single-sided deafness (SSD) and their normal-hearing (NH) peers within a virtual reality environment, and (2) investigate sound-localization performance across various azimuths by contrasting left-SSD (L-SSD) and right-SSD (R-SSD) groups. Methods: A cohort of 44 participants (20 NH, 24 SSD) performed sound localization tasks in a 3D virtual environment. Unsigned azimuth error (UAE), unsigned elevation error (UEE), and head movement distance were analyzed across six azimuthal angles (−75° to 75°) at 0°elevation. Non-parametric statistics (Mann–Whitney U tests, Holm–Bonferroni correction) compared performance between NH and SSD groups and within SSD subgroups (L-SSD vs. R-SSD). Results: The SSD group exhibited significantly higher UAE (mean: 22.4° vs. 3.69°, p < 0.0001), UEE (mean: 5.95° vs. 3.77°, p < 0.0001) and head movement distance (mean: 0.35° vs. 0.12°, p < 0.0001) compared with NH peers, indicating persistent localization deficits and compensatory effort. Within the SSD group, elevation performance was superior to azimuthal accuracy (mean UEE: 3.77° vs. mean UAE: 22.4°). Participants with R-SSD exhibited greater azimuthal errors at rightward angles (45°and 75°) and at −15°, as well as increased elevation errors at 75°. Hemifield-specific advantages were strongest at extreme lateral angles (75°). Conclusions: Children with SSD rely on insufficient compensatory head movements to resolve monaural spatial ambiguity in order to localize sounds. Localization deficits and the effort associated with localization task call for action in addressing these issues in dynamic environments such as the classroom. L-SSD subjects outperformed R-SSD peers, highlighting hemispheric specialization in spatial hearing and the need to study its neural basis to develop targeted rehabilitation and classroom support. The hemifield advantages described in this study call for further data collection and research on the topic.