Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.

Biallelic loss-of-function variants in STRC contribute to mild-moderate hearing loss (DFNB16). Here, we report a female patient with mild hearing loss. Exome sequencing and MLPA analysis revealed STRC biallelic inactivation due to a nonsense and a CKMT1B-STRC deletion.

[ENT manifestations of congenital cytomegalovirus infection].

Cytomegalovirus is the most common cause of congenital infection worldwide. 90 % of children infected in utero are born without symptoms, but 15 % of them will develop disorders within the first five years of life. The most common disorders affect the inner ear, resulting in sensorineural hearing loss and/or vestibular dysfunction (VD).

[Management of patients with complex ear deformities].

Complex ear reconstruction requires specialized multidisciplinary care. Most patients present with microtia, often associated with hearing disorders. The management of these disorders is a priority, and reconstruction of the external ear remains optional.

Development of a new clinical tool to evaluate the balance abilities of children with bilateral vestibular loss: The Geneva Balance Test.

Introduction: Vestibular deficits are considered rare in children, but the lack of systematic screening leads to underdiagnosis. It has been demonstrated that chronic vestibular dysfunction impacts the normal psychomotor development of children. Early identification is needed to allow for clinical management, ensuring better global development.

[Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland].

Hearing loss is the most frequent sensory deficit at birth. Newborn hearing screening helps with early identification and clinical management of hearing deficits. A cochlear implantation is advised for profound hearing loss.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Purpose: Hearing loss is characterized by an extensive genetic heterogeneity and remains a common disorder in children. Molecular diagnosis is of particular benefit in children, and permits the early identification of clinically-unrecognized hearing loss syndromes, which permits effective clinical management and follow-up, including genetic counselling.

Methods: We performed whole-exome sequencing with the analysis of a panel of 189 genes associated with hearing loss in a prospective cohort of 61 children and 9 adults presenting mainly with isolated hearing loss.

Home respiratory polygraphy in obstructive sleep apnea syndrome in children: Comparison with a screening questionnaire.

Objectives: The prevalence of obstructive sleep apnea syndrome (OSAS) in children referred for sleep-disordered breathing reaches up to 59%. We aimed to test the adequacy of a questionnaire compared to home respiratory polygraphy (HRP), in 45 subjects (5-16 years-old), without maxillofacial malformations nor other comorbidities, presenting with symptoms compatible with OSAS.

Methods: All children passed a 12-items questionnaire (Obstructive Airway Child test: OACT) and the HRP.

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.

Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for a converted allele and a deletion of OTOA.

LARS2-Perrault syndrome: a new case report and literature review.

Background: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and LARS2. To date, 19 variants have been reported in 18 individuals with LARS2-Perrault syndrome.

Successful home respiratory polygraphy to investigate sleep-disordered breathing in children.

Objective: Sleep-disordered breathing (SDB) in children is common. Interest in sleep tests, such as polygraphy (PG), which can be performed in a non-attended setting, are gaining is increasing. PG has, however, been little studied in children with co-morbidities other than obstructive sleep apnea (OSA), and in particular, if performed in a non-attended setting.

[Genetics of hearing disorders in children].

The majority of early hearing disorders are of genetic origin. In view of the genetic heterogeneity, high-throughput sequencing analysis of a panel of genes involved in hearing loss is the most effective and economical approach, providing a diagnostic yield of around 40 % today. The determination of a molecular diagnosis makes it possible to: i) adapt the audiological care; ii) to search for possible somatic problems associated with so-called syndromic hearing loss; (iii) to avoid unnecessary additional examinations in isolated hearing loss; (iv) to establish accurate genetic counseling for relatives, or even to provide early diagnosis; and (v) to lay the foundation for potential future molecular hearing loss therapies in selected cases.

Sniffin' Away the Feeding Tube: The Influence of Olfactory Stimulation on Oral Food Intake in Newborns and Premature Infants.

Because of their immaturity, many premature infants are fed via nasogastric tube. One objective of the neonatal care is to feed infants orally early. The olfactory function of premature infants is developed before birth and odorants have a significant impact on nutrition in infants.

Development of an International Odor Identification Test for Children: The Universal Sniff Test.

Objective: To assess olfactory function in children and to create and validate an odor identification test to diagnose olfactory dysfunction in children, which we called the Universal Sniff (U-Sniff) test.

Study Design: This is a multicenter study involving 19 countries. The U-Sniff test was developed in 3 phases including 1760 children age 5-7 years.

Acute cortical deafness in a child with MELAS syndrome.

Auditory impairment in mitochondrial disorders are usually due to peripheral sensorineural dysfunction. Central deafness is only rarely reported. We report here an 11-year-old boy with MELAS syndrome who presented with subacute deafness after waking up from sleep.

Wallenberg Syndrome: An Exceptional Cause of Acute Vertigo in Children.

The assessment of acute vertigo in childhood is often challenging, but fortunately a central cause is rarely identified. We present the case of a 7-year-old boy who developed, after a mild head trauma, a rotary vertigo associated with nausea and vomiting. A posttraumatic peripheral vestibular dysfunction was first suspected but not confirmed by an otoneurological evaluation.

Taste disorders after tonsillectomy: a long-term follow-up.

In a former study, taste disturbances after tonsillectomy seemed to be more frequent than expected. Eight percent of patients reported subjective taste disorders 6 months after tonsillectomy. Fifteen patients from the initial trial, who reported taste disorders after tonsillectomy, were contacted again for this long-term follow-up.

Taste disturbance following tonsillectomy--a prospective study.

Objectives/hypothesis: Persistent taste disturbance is a rare complication after tonsillectomy and mainly documented by case reports or a few retrospective and prospective trials with a limited number of patients. None could clarify frequency, time course, or prognosis of long-lasting dysgeusia after tonsillectomy. The aim of the study was to provide a symptom-based follow-up after tonsillectomy to assess postoperative taste disorders.

Recovery from long-lasting post-tonsillectomy dysgeusia.

Transient post-tonsillectomy taste dysgeusia (PTD) is a common complaint. Long-lasting PTD is less frequent but has significant consequences on patients' quality of life, with some cases leading to medicolegal issues. Treatment options and knowledge about mechanisms and factors favoring PTD are limited.

Chemosensory function in Wegener's granulomatosis: a preliminary report.

Despite the fact that Wegener's granulomatosis affects the nasal and paranasal cavities and the cranial nerves regularly, chemosensory impairments have not been reported. The objective of this study is to test the three chemosensory systems, olfaction, taste, and intranasal trigeminal function in Wegener disease patients. We tested olfactory, gustatory, and intranasal trigeminal function in nine patients (5 women, 4 men, mean age 57 years) with confirmed Wegener's granulomatosis.

Retronasal olfactory function in Parkinson's disease.

Objectives/hypothesis: Orthonasal olfaction is severely altered in PD patients. Retronasal olfactory function has been shown to be preserved under certain conditions even in the absence of orthonasal function. This study was undertaken to investigate retronasal versus orthonasal olfactory function in Parkinson's disease (PD).