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Children with unilateral sensorineural hearing loss (uSNHL) have a high risk of speech-language delays and academic difficulties. Still, challenges remain in the diagnosis of uSNHL. With a prospective cross-sectional design, 20 infants were consecutively recruited from a universal newborn hearing screening program and invited to genetic testing. Eighteen of the subjects agreed to genetic testing, 15 subjects with OtoSCOPE ® v.9 screening 224 genes, and four subjects underwent targeted testing, screening for chromosomal abnormalities or 105-137 gene mutations. The genetic results were described together with the 20 infants' previously published auditory profiles and imaging results. Genetic causes for the uSNHL were found in 28% of subjects (5/18) including CHARGE syndrome (CHD7), autosomal recessive non-syndromic hearing loss (GJB2), Townes-Brocks syndrome (SALL1), Pendred Syndrome (SLC26A4) and Chromosome 8P inverted duplication and deletion syndrome. In subjects with comorbidities (malformation of fingers, anus, brain, and heart), 100% were diagnosed with a genetic cause for uSNHL (3/3 subjects), while 13% (2/15 subjects) were diagnosed without comorbidities observed at birth ( p = 0.002). Genetic testing for congenital uSNHL is currently efficient for alleged syndromes, whereas genetic variants for non-syndromic congenital uSNHL need further research.

Cochlear implantation as a treatment for severe-to-profound hearing loss allows children to develop hearing, speech, and language in many cases. However, cochlear implants are generally provided beyond the infant period and outcomes are assessed after years of implant use, making comparison with normal development difficult. The aim was to study whether the rate of improvement of horizontal localization accuracy in children with bilateral implants is similar to children with normal hearing. A convenience sample of 20 children with a median age at simultaneous bilateral implantation = 0.58 years (0.42−2.3 years) participated in this cohort study. Longitudinal follow-up of sound localization accuracy for an average of ≈1 year generated 42 observations at a mean age = 1.5 years (0.58−3.6 years). The rate of development was compared to historical control groups including children with normal hearing and with relatively late bilateral implantation (≈4 years of age). There was a significant main effect of time with bilateral implants on localization accuracy (slope = 0.21/year, R2 = 0.25, F = 13.6, p < 0.001, n = 42). No differences between slopes (F = 0.30, p = 0.58) or correlation coefficients (Cohen’s q = 0.28, p = 0.45) existed when comparing children with implants and normal hearing (slope = 0.16/year since birth, p = 0.015, n = 12). The rate of development was identical to children implanted late. Results suggest that early bilateral implantation in children with severe-to-profound hearing loss allows development of sound localization at a similar age to children with normal hearing. Similar rates in children with early and late implantation and normal hearing suggest an intrinsic mechanism for the development of horizontal sound localization abilities.

Congenital unilateral sensorineural hearing loss (uSNHL) is associated with speech-language delays and academic difficulties. Yet, controversy exists in the choice of diagnosis and intervention methods. A cross-sectional prospective design was used to study hearing loss cause in twenty infants with congenital uSNHL consecutively recruited from a universal neonatal hearing-screening program. All normal-hearing ears showed ≤20 dB nHL auditory brainstem response (ABR) thresholds (ABRthrs). The impaired ear median ABRthr was 55 dB nHL, where 40% had no recordable ABRthr. None of the subjects tested positive for congenital cytomegalovirus (CMV) infection. Fourteen subjects agreed to participate in magnetic resonance imaging (MRI). Malformations were common for all degrees of uSNHL and found in 64% of all scans. Half of the MRIs demonstrated cochlear nerve aplasia or severe hypoplasia and 29% showed inner ear malformations. Impaired ear and normal-hearing ear ABR input/output functions on a group level for subjects with ABRthrs < 90 dB nHL were parallel shifted. A significant difference in interaural acoustic reflex thresholds (ARTs) existed. In congenital uSNHL, MRI is powerful in finding a possible hearing loss cause, while congenital CMV infection may be relatively uncommon. ABRs and ARTs indicated an absence of loudness recruitment, with implications for further research on hearing devices.