Evaluation of auditory development in infants and toddlers who received cochlear implants under the age of 24 months with the LittlEARS) Auditory Questionnaire.

Background And Aims: Newborn hearing screening and early intervention for congenital hearing loss have created a need for tools assessing the hearing development of very young children. A multidisciplinary evaluation of children's development is now becoming standard in clinical practice, though not many reliable diagnostic instruments exist. For this reason, the LittlEARS Auditory Questionnaire (LEAQ) was created to assess the auditory skills of a growing population of infants and toddlers who receive hearing instruments.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound.

Universal newborn hearing screening and postnatal hearing loss.

Objective: The goal of this study was to determine the percentage of children who have a postnatal permanent childhood hearing impairment (PCHI) and the percentage thereof who have risk indicators for a postnatal hearing loss.

Methods: Data were drawn retrospectively from the clinical charts of children who had bilateral PCHI (>40 dB hearing level, better ear, unaided) and had undergone universal newborn hearing screening (UNHS) between 1995 and 2000 in various Austrian hospitals. A hearing loss was recognized as postnatal when a child passed UNHS but was later found to have a hearing impairment.

[Evaluation of the Austrian Newborn Hearing Screening Program].

Background: Universal Neonatal Hearing Screening (UNHS) has been gradually implemented since the mid-nineties in Austrian maternity wards and neonatal intensive care units. This study evaluated the effect of UNHS on reducing age at identification as well as age of intervention for children with congenital and perinatal sensorineural hearing impairment.

Methods: This was a retrospective analysis of clinical data of 394 Austrian children diagnosed with an at least mild degree (> 20 dB hearing level) of permanent sensorineural hearing loss.

GJB2 mutations and degree of hearing loss: a multicenter study.

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test.

Ten-year outcome of newborn hearing screening in Austria.

Objective: Current health care standards recommend that congenital hearing loss be confirmed before age three months and intervened for before age six months. This study evaluated to what extent the Austrian universal neonatal hearing screening (UNHS) program achieves this goal. The Austrian UNHS program is a hospital-based, two-stage screen based on transient oto-acoustic emissions, as promoted in 1995 in a position paper of the Austrian ENT Society.

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.

Recently, a 342-kb deletion involving GJB6 was associated with autosomal-recessive non-syndromic hearing loss (NSHL) and in combination with a GJB2 mutation with digenic NSHL. This deletion was the second most common mutation causing prelingual NSHL in Spain, and was frequently observed in patients from France and Israel. We screened 393 patients with NSHL being negative or heterozygous for GJB2 mutations for this GJB6 deletion using a multiplex PCR.

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

Mutations of GJB2 (encoding connexin 26) are the most common cause of hearing loss (HL) in different populations, and a broad spectrum of GJB2 mutations has been identified. We screened 204 consecutive patients with non-syndromic sensorineural hearing loss for GJB2 mutations. Causative GJB2mutations were identified in 31 (15.