Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening: an observational study in Italy.

BACKGROUND: Congenital Cytomegalovirus (cCMV) is the most common cause of non-genetic hearing loss in childhood. A newborn hearing screening program (NHSP) is currently running in Italy, but no universal cCMV nor statewide hearing-targeted CMV screening programs have been implemented yet. This observational monocentric study was aimed at estimating the rate of cCMV infections identified by CMV-DNA analysis on Dried Blood Spots (DBS) samples in deaf children identified via NHSP in Northern Italy in the period spanning from 2014 to 2018. METHODS: Children with a confirmed diagnosis of deafness and investigated for CMV-DNA by nucleic acid extraction and in-house polymerase-chain reaction (PCR) on stored newborns screening cards (DBS-test) were included in this study. Deafness was defined by a hearing threshold ≥20 decibel (dB HL) by Auditory Brainstem Responses (ABR); all investigated DBS samples were collected within 3 days of life. RESULTS: Overall, 82 children were included (median age: 3.4 months; lower-upper quartiles: 2-5.3 months; males: 60.9%). Most of them (70.7%) presented bilateral hearing loss with a symmetrical pattern in 79.3% of the cases. ABR thresholds were ≥ 70 dB HL (severe/profound deafness) in 46.5% of children. Among all tested children, 6.1% resulted positive for cCMV. The rate of severe/profound deafness was statistically higher in children with cCMV infection. CONCLUSIONS: The addition of DBS-test to the NHSP allowed the identification, in their first months of life, of a cCMV infection in 6.1% of children who had failed NHS. The introduction of a targeted CMV screening strategy could help clinicians in the differential diagnosis and in the babies' management. DBS samples can be considered a "universal newborns biobank": their storage site and duration should be the subject of political decision-making.

Auditory brainstem responses (ABR) in normal hearing adult subjects with Down's syndrome.

BACKGROUND: Auditory brainstem responses (ABRs) have been previously investigated in subjects with Down's syndrome (DS), but the published data are generally from children with hearing loss. The aim of this study was to evaluate the hearing pathway in normal hearing adult DS patients. METHODS: We used ABRs to analyze absolute and interpeak latencies in 19 adult DS patients aged 18-45 years whose pure tone audiometry (PTA) test results indicated thresholds within normal limits, and 19 normal controls. RESULTS: The DS sample showed statistically significant gender-related differences in interpeak interval III-V (p = 0.015). The latencies of waves III and V, and interpeak intervals III-V and I-V, were significantly shortened in the DS patients than in the controls. CONCLUSIONS: Our findings may be due to the smaller brain sizes and simpler afferent auditory pathways of DS subjects.

Auditory late potentials in normal-hearing adult subjects with Down's syndrome.

OBJECTIVE: Several studies have demonstrated that adult subjects with Down's syndrome (DS) and hearing impairments show significantly delayed latencies in auditory late potentials (ALPs). The aim of this study was to investigate whether the differences were still present in ALPs in an adult DS population with normal hearing, taking into consideration sex, handedness, and head size. STUDY DESIGN: Prospective study. SETTING: Audiology unit of the hospital Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. PATIENTS: Sixteen normal-hearing adult DS subjects referred to the health monitoring program for DS patients of Vivi Down Onlus Association in Milan, Italy (7 male subjects with a mean age of 26 ± 7.74 yr and 9 female subjects with a mean age of 28 ± 8.63 yr) and 16 controls (7 male subjects with a mean age of 26 ± 7.74 yr and 9 female subjects with a mean age of 28 ± 8.86 yr) matched for sex, age, and handedness. MAIN OUTCOME MEASURE: The 2 negative peaks, N1 and N2, and the 2 positive peaks, P1 and P2, of ALP. RESULTS: ALP N1 and P2 components were well defined in all subjects. The P1 and N2 components were less evident than the others. There were significant delayed latencies in the DS group with respect to the control subjects for P1, N1, P2, and N2 components. CONCLUSION: Our study demonstrated that ALP longer latencies are present in adult DS participants even when they have a normal hearing threshold, regardless of handedness and head size.

Results of TRT after eighteen months: our experience.

The aim of this study was to evaluate the efficacy of TRT in patients suffering from tinnitus. The tinnitus disorder affects about 10-15% of the population and, in one person out of a hundred, it is a disabling disorder. TRT treatment is based on Jastreboff's neurophysiological model. TRT consists of two parts: counselling, and sound therapy by means of dedicated hearing aids and sound generators. It proved to be useful to reduce the symptoms related to tinnitus. Jastreboff's structured interviews were proposed to a sample of 51 patients with tinnitus belonging to the I-II-III-IV classes according to Jastreboff. These patients were treated for 18 months. Sixty-eight percent of patients reported a reduction in the symptoms related to tinnitus, such as sleep disturbance, problems in concentration, and inability to relax. A percentage (64.7%) of patients thought that their quality of life was improved. Patients who had suffered from tinnitus for less than one year achieved significantly better results than patients who had suffered for a longer period of time. TRT is an effective tool in the treatment of tinnitus.

Methylenetetrahydrofolate reductase gene mutations as risk factors for sudden hearing loss.

Sudden hearing loss (SHL) can be caused by vascular disorders favoring impaired cochlear perfusion. Several inherited prothrombotic risk factors have been considered in the pathogenesis of vascular impairment, and the possible role of genetic alterations has recently been suggested. Methylenetetrahydrofolate reductase (MTHFR) gene mutations at nucleotides 677 and 1298 cause reduced MTHFR enzyme activity, which leads to increased homocysteine and reduced serum folate levels that are known to be involved in vascular impairment. We studied the relationship between SHL and MTHFR C677T and A1298C gene polymorphisms in 67 patients with SHL and 134 controls. Wild-type MTHFR CC677/AA1298 was significantly more frequent in the controls (P = .05), and gene mutations were significantly more frequent in the patients (P = .001; P = .001 for trend). Fifty-three patients (79.1%) and 56 controls (41.8%) (P = .012) had a double mutation (homozygosis 677TT or 1298CC; compound heterozygosis for both polymorphisms). Homocysteine levels were significantly higher and serum folate levels significantly lower in the patients than in the controls (P < .0001). These data suggest that MTHFR gene polymorphisms may be involved in the pathogenesis of SHL.