Three Years of Vestibular Infant Screening in Infants With Sensorineural Hearing Loss.

OBJECTIVES: Although vestibular deficits are more prevalent in hearing-impaired children and can affect their development on many levels, a pediatric vestibular assessment is still uncommon in clinical practice. Since early detection may allow for timely intervention, this pioneer project has implemented a basic vestibular screening test for each six-month-old hearing-impaired infant in Flanders, Belgium. This study aims to report the vestibular screening results over a period of three years and to define the most important risk factors for abnormal vestibular screening results. METHODS: Cervical Vestibular Evoked Myogenic Potentials with bone-conduction were used as a vestibular screening tool in all reference centers affiliated to the Universal Newborn Hearing Screening Program in Flanders. From June 2018 until June 2021, 254 infants (mean age: 7.4 months, standard deviation: 2.4 months) with sensorineural hearing loss were included. RESULTS: Overall, abnormal vestibular screening results were found in 13.8% (35 of 254) of the infants. The most important group at risk for abnormal vestibular screening results were infants with unilateral or bilateral severe to profound sensorineural hearing loss (20.8%, 32 of 154) (P < .001, odds ratio = 9.16). Moreover, abnormal vestibular screening results were more prevalent in infants with hearing loss caused by meningitis (66.7%, 2 of 3), syndromes (28.6%, 8 of 28), congenital cytomegalovirus infection (20.0%, 8 of 40), and cochleovestibular anomalies (19.2%, 5 of 26). CONCLUSIONS: The vestibular screening results in infants with sensorineural hearing loss indicate the highest risk for vestibular deficits in severe to profound hearing loss, and certain underlying etiologies of hearing loss, such as meningitis, syndromes, congenital cytomegalovirus, and cochleovestibular anomalies.

Predictive Sensitivity and Concordance of Machine-learning Tools for Diagnosing DFNA9 in a Large Series of p.Pro51Ser Variant Carriers in the COCH-gene.

OBJECTIVE: In this study we aimed to evaluate the predictive cross-sectional sensitivity and longitudinal concordance of a machine-learning algorithm in a series of genetically confirmed p.(Pro51Ser) variant carriers (DFNA9). STUDY DESIGN: Cross-sectional study. SETTING: Tertiary and secondary referral center. PATIENTS: Audiograms of 111 subjects with the p.(Pro51Ser) mutation in the COCH-gene were analyzed cross-sectionally. A subset of 17 subjects with repeated audiograms were used for longitudinal analysis. INTERVENTIONS: All audiological thresholds were run through the web-based AudioGene v4.0 software. MAIN OUTCOME MEASURES: Sensitivity for accurate prediction of DFNA9 for cross-sectional data and concordance of correct prediction for longitudinal auditory data. RESULTS: DFNA9 was predicted with a sensitivity of 93.7% in a series of 222 cross-sectionally collected audiological thresholds (76.1% as first gene locus). When using the hearing thresholds of the best ear, the sensitivity was 94.6%. The sensitivity was significantly higher in DFNA9 patients aged younger than 40 and aged 60 years or older, compared to the age group of 40 to 59 years, with resp. 97.6% (p < 0.0001) and 98.8% (p < 0.0001) accurate predictions. An average concordance of 91.6% was found to show the same response in all successive longitudinal audiometric data per patient. CONCLUSIONS: Audioprofiling software can accurately predict DFNA9 in an area with a high prevalence of confirmed carriers of the p.(Pro51Ser) variant in the COCH-gene. This algorithm yields high promises for helping clinicians in directing genetic testing in case of a strong family history of progressive hearing loss, especially for very young and old carriers.

Changes over time of psychoacoustic outcome measurements are not a substitute for subjective outcome measurements in acute tinnitus.

The aim of this study was to assess correlations between the changes over time of various tinnitus measurements. A longitudinal prospective study comparing two test moments was performed: before treatment and after 90 days. Tinnitus assessment consisted of psychoacoustic outcome measurements (minimal masking level and loudness matching at 1 kHz) and subjective outcome measurements (Tinnitus Impairment Questionnaire, Tinnitus Questionnaire and Numeric Rating Scale of loudness and annoyance). Additionally, the effect size was measured. 35 subjects were included in this study. The subjects had a permanent, non-pulsatile tinnitus acquired <3 months previously. Weak or no significant correlations were found between ∆psychoacoustic outcome measurements and ∆subjective outcome measurements. The effect size showed that subjective outcome measurements were the most responsive to measure change in tinnitus complaints. We can conclude that psychoacoustic outcome measurements of tinnitus cannot substitute subjective outcome measurements in patients with acute tinnitus. The authors recommend subjective outcome measurements as primary outcome measurements in a clinical setting. In research, however, it is meaningful to quantify tinnitus in both ways.

Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.

UNLABELLED: Thyroid nodules are a rare occurrence in children but represent an important clinical problem because of the possibility of malignancy. We report the case of a 4-year-old boy with sensorineural deafness, who presented with a painless mass in the right anterior cervical region. Cervical ultrasound demonstrated a solid nodule (1.4 x 2.5 x 1.7 cm) in the right thyroid lobe. Thyroid function tests revealed compensated hypothyroidism (free T4 1.0 ng/dl; TSH 57 mIU/l) with no detectable thyroid antibodies. A 99mTc thyroid scan showed a generalised slightly increased tracer retention (4.6%) with an enlarged right lobe, without distinct nodules. A fine-needle aspiration biopsy revealed normal follicular cells. The boy was treated with l-thyroxine which resulted in a complete clinical and sonographical disappearance of the nodule. A CT scan of temporal bones revealed a bilaterally enlarged vestibular aqueduct with Mondini malformation of the cochlea. The combination of all these symptoms suggested the diagnosis of Pendred syndrome (PDS), a disorder characterised by congenital sensorineural hearing loss and a variable degree of thyromegaly due to mutations in the SLC26A4/PDSgene. DNA analysis disclosed a so far unreported homozygous splice site mutation (1002-4 C>G) in intron 8 of the SLC26A4 gene confirming this diagnosis. CONCLUSION: a solitary thyroid nodule may therefore be another presenting symptom of thyroid involvement in Pendred syndrome