Twelve years of neonatal hearing screening: audiological and etiological results.

PURPOSE: Most developed countries have implemented some form of universal newborn hearing screening program. Early identification and rehabilitation of congenital hearing loss is important in functional outcome, and the need to identify the cause of hearing impairment has become clear. We aimed to evaluate audiological and etiological outcomes in a large group of patients with failed neonatal hearing screening. METHODS: We performed a retrospective chart analysis of patients who were referred to our tertiary referral center after failing neonatal hearing screening during a 12-year period (2007-2019). Screening was based on automated auditory brainstem response (AABR) or a combined approach of AABR and auditory steady-state response (ASSR) with chirp stimulus. Extensive audiometric testing was performed to confirm and determine the type and degree of hearing loss. In case of permanent hearing loss, a standardized etiological protocol was followed to determine the cause. RESULTS: Of the 802 referred newborns, hearing loss was confirmed by diagnostic ABR in 78%. Main causes of hearing loss included otitis media with effusion (56%, higher in patients screened by AABR/ASSR compared to AABR), a genetic disorder (12%), congenital cytomegalovirus infection (cCMV, 5%) and atresia/stenosis of the external ear canal (5%). Of the patients with permanent hearing loss, 15% showed changes in hearing loss severity over time. CONCLUSION: In the majority of newborns referred after failing universal neonatal hearing screening, hearing loss could be confirmed. The leading cause was reversible hearing loss due to otitis media with effusion, but hearing loss proved permanent in about 35% of referred newborns, with genetics as predominant cause. Follow-up of congenital hearing loss patients is important as deterioration as well as improvement was observed over time.

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It comprises branchiootorenal syndrome and branchiootic syndrome, distinguished by the presence or absence of renal abnormalities. Pathogenic variants have been discovered in the following genes: EYA1, SIX5, SIX1 and SALL1. As the otological phenotype in BORSD is inconsistently reported, we performed a systematic review to provide an up-to-date overview, correlated with the genotype. Forty publications were included, describing 295 individual patients. HL was diagnosed in 95%, usually bilateral and mixed-type, and differed among the different genes involved. Mixed moderate-to-severe HL was the predominant finding in patients with EYA1 involvement, regardless of the presence of renal abnormalities. The sensorineural HL of profound severity was more prevalent in patients with SIX1 mutations. No significant differences among different mutation types or location within the genes could be observed. Structural otological manifestations, ranging from periauricular to inner ear anomalies, were common in both genes. Especially periauricular anomalies were more common and more severe in EYA1. In summary, otological differences among the different genes involved in BORSD are observed, so the molecular analysis is strongly advised.

Hearing Loss in Stickler Syndrome: An Update.

Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. Its main symptoms are high myopia, retinal detachment, joint hypermobility, early osteoarthritis, cleft palate, midfacial hypoplasia, micrognathia and hearing loss. Large phenotypical variability is apparent and partly explained by the underlying genetic heterogeneity, including collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) and non-collagen genes (BMP4, LRP2, LOXL3). The most frequent type of Stickler syndrome (COL2A1) is characterized by a rather mild high-frequency sensorineural hearing loss in about half of the patients. COL11A1- and COL11A2-related Stickler syndrome results in more frequent hearing loss, being moderate and involving all frequencies. Hearing loss in the rarer types of Stickler syndrome depends on the gene expression in the cochlea, with moderate to severe downsloping hearing loss for Stickler syndrome caused by biallelic type IX collagen gene mutations and none or mild hearing loss for the non-collagen genes. Inherent to the orofacial manifestations, middle ear problems and temporary conductive hearing loss, especially at young age, are also prevalent. Consequently, hearing loss should be actively sought for and adequately treated in Stickler syndrome patients given its high prevalence and the concomitant visual impairment in most patients.

Congenital Unilateral Hearing Loss: Characteristics and Etiological Analysis in 121 Patients.

OBJECTIVE: To describe the characteristics and etiological analysis in patients with congenital unilateral hearing loss. STUDY DESIGN: Retrospective cohort analysis. SETTING: Tertiary referral center. PATIENTS: Children with permanent congenital unilateral hearing loss born between 2007 and 2018. Patients were referred after universal newborn hearing screening or by a colleague to confirm the diagnosis and perform etiological examinations. MAIN OUTCOME MEASURES: Hearing loss type, severity, and evolution linked with the results of etiological testing. RESULTS: In the 121 included children, aural atresia is the leading cause of congenital unilateral hearing loss (32%), followed by structural anomalies (19%) and cCMV (13%), whereas 24% remained idiopathic after etiological work-up. Severity is mainly moderately severe (33% with 56-70 dB hearing loss, majority aural atresia) or profound (31% with > 90 dB hearing loss, predominantly cochlear nerve deficiency). Syndromic features were present in 26%. Although discussed with all parents, only 26% of the children regularly used hearing amplification. CONCLUSIONS: Congenital conductive unilateral hearing loss is mainly caused by aural atresia, which proportion in congenital unilateral hearing loss proved higher than previously reported. Cochlear nerve deficiency and cCMV are the predominant etiologies of congenital unilateral sensorineural hearing loss. Etiological work-up in affected patients is mandatory as it might impact the approach, and syndromic features should be actively searched for.

Hearing impairment in Stickler syndrome: a systematic review.

BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype. METHODS: English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation. RESULTS: 313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). CONCLUSIONS: Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired.