[Auditory evoked potentials in children with auditory neuropathy spectrum disorder]. / Slukhovye vyzvannye potentsialy u detei s zabolevaniem spektra auditornykh neiropatii.

The objective of the present study was to estimate peculiarities of the auditory brainstem evoked potentials (ABR), auditory steady-state responses (ASSR) and cortical auditory evoked potentials (CAEP) in the children presenting with bilateral auditory neuropathy spectrum disorder (ANSD). The study included 100 patients with bilateral ANSD diagnosed based on the positive response of otoacoustic emissions (OAEs) and/or cochlear microphonic (CM) detection, while no synchronous neural activity was detected in the ABR test. Cochlear microphonic was the main clue for the ANSD diagnosing, because OAE was absent in both ears of 49 children. ABR testing revealed no response bilaterally in 72 cases (out of 100). In contrast to ABR, the ASSR thresholds were detectable at all the four main frequencies in both ears in 73 % of the cases (47 out of the 64 tested ones). Both ABR and ASSR in most cases were incomparable with the behavioral audiometric thresholds. 28 children underwent CAEP testing. In 7 cases out of 8 with mild hearing loss detectable CAEP were recorded. CAEP registration in l7 children making use of the hearing aids and in 3 children after cochlear implantation revealed, in the majority of the cases, the concordance between CAEP detectability with behavioral thresholds and rehabilitation outcomes with fairly good speech intelligibility. It is concluded that the ABR registration with CM evaluation is the most informative test for ANSD diagnosis. However, ABR as well as ASSR is useless for the estimation of the behavioral thresholds. The results of this study suggest that the presence or absence of CAEPs can provide some indication of the audibility of a speech sound in the children with ANSD; however this method requires further investigation.

[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].

Pendred syndrome is an autosomal recessive inherited disorder characterized by a combination of sensorineural hearing impairment and euthyroid goiter; its clinical manifestation in children is hardly distinguishable from nonsyndromic hearing loss. Pendred syndrome is one of the most frequent types of syndromic hearing loss. Hearing impairment is accompanied by abnormal development of the bony labyrinth­enlarged vestibular aqueduct (EVA) and occasionally combined with Mondini dysplasia. Mutations in the SLC26A4 gene, which encodes the pendrin protein, are responsible for both Pendred syndrome and for allelic disorder (nonsyndromic enlarged vestibular aqueduct). The present study for the first time conducted molecular genetic analysis in 20 Russian patients with Pendred syndrome, EVA and/or Mondini dysplasia. As a result, six pathogenic mutations in the SLC26A4 gene were revealed in four patients. The mutation c.222G>T (p.Trp74Cys) was detected for the first time. Mutations were found in patients with Pendred syndrome and nonsyndromic EVA with or without Mondini dysplasia. Mutations were not detected in patients with isolated Mondini dysplasia. One proband with clinical diagnosis Pendred syndrome was homozygous for the c.35delG mutation in the GJB2 gene. The absence of frequent mutations, including well-known ones or "hot" exons in the SLC26A4 gene, was reported. Therefore, the optimal method to search for mutations in the SLC26A4 gene in Russian patients is Sanger sequencing of all exons and exon-intron boundaries in the SLC26A4 gene.

[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)]. / Sindrom Pendreda (obzor literatury i klinicheskie nablyudeniya).

The aim of this work was a clinical study of the patients with mutations in the SLC26A4 gene and clinical diagnosis of the Pendred syndrome. The Pendred syndrome is a hereditary autosomal recessive disorder characterized by combined pathology of the inner ear and the thyroid gland. CT of the temporal bones demonstrates the Mondini-type structural anomaly in the inner ear and enlarged vestibular aqueduct. Examination of the thyroid gland reveals hypothyroidism and euthyroid goiter. A total of 20 unrelated children at the age from 2 to 16 years presenting with the hearing loss of different severity were available for the examination. High-resolution CT of the temporal bones demonstrated abnormal development of the inner ear including the Mondini-type structural anomaly and enlarged vestibular aqueduct. Five children with congenital hypothyroidism suffered from bilateral sensorineural impairment of hearing. The routine methods of audiological and molecular genetic examination were used throughout the study. RESULTS: As a result of molecular genetic studies, four out of the 20 patients were found to carry six recessive mutations of the SLC26A4 gene in the compound heterozygous and one such gene in the homozygous state which confirmed the hereditary nature of the disease. The children suffered the hearing loss of varying severity diagnosed at different age. The thyroid hypofunction in one child was identified when it was 2 years of age, and in two children at the age of 8 and 9 years. CONCLUSION: The first step in the diagnosis of the Pendred syndrome among children with congenital hearing loss was a CT scan of the temporal bones that showed incomplete separation of the curls of the cochlea and enlarged vestibular aqueduct. It is necessary to continue to study epidemiology, clinical and molecular genetics of the Pendred syndrome in the Russian population.

[The hearing function in the patients presenting with congenital primary hypothyroidism].

The objective of the present work was to improve the effectiveness of early diagnostics, prophylaxis, and correction of hearing impairment in the patients presenting with congenital primary hypothyroidism (CPH). The results of observation of 73 cases indicate that the late onset of substitution therapy of CPH with levothyroxine has no negative effect on the hearing function. The prevalence of hearing impairment was shown to depend on the etiological variant of CPH.