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Objective: To examine the effect of vestibular ocular reflex on gross motor development in children with semicircular canal aplasia and hypoplasia., Study Design: Case series., Materials and Methods: Children with congenital hearing loss underwent temporal bone computed tomography to assess their inner ear morphology. In this study, we examined eight children with bilateral complete aplasia of semicircular canals and seven children with bilateral hypoplasia of semicircular canals. Their vestibular ocular reflex was assessed using a damped rotational chair test. Their gross motor development was assessed by examining their ages of acquisition of head control and independent walking., Results: All eight children with semicircular canal aplasia were diagnosed as having CHARGE syndrome and five children were found to have CHD7 mutations. Cochlear morphological examination showed that cochlear hypoplasia type III was the most common in eight of 16 ears in children with semicircular canal aplasia. In semicircular canal hypoplasia, incomplete partition type II was found in seven of 14 ears. All eight children with semicircular canal aplasia showed no response in the damped rotational chair test. Even the three children followed up were unresponsive in all tests. In the group with semicircular canal hypoplasia, three children showed normal responses, one child showed no response, and three children showed poor responses. The mean age of acquisition of head control was 9.1 ± 6.3 months and that of independent walking was 31 ± 8.1 months in children with semicircular canal aplasia. The mean age of acquisition of head control was 6.0 ± 2.8 months and that of independent walking was 19.9 ± 4.9 months in children with semicircular canal hypoplasia., Conclusions: We found that children with semicircular canal aplasia have severe dysfunction of the vestibular ocular reflex, and vestibular sensory cells derived from the semicircular canal may not be present. Semicircular canal hypoplasia is associated with dysfunction of the vestibular ocular reflex, but vestibular sensory cells may be present, and rotary nystagmus develops with growth similar to that observed in normal children previously reported. Semicircular canal aplasia is associated with CHARGE syndrome, and affected children tended to have a slower gross motor development. It was suggested that the combination of visual impairment and mental retardation may delay the development of central-level integrated functions and may further delay motor development., Competing Interests: Declaration of competing interest We have no conflict(s) of interest to declare., (Copyright © 2022. Published by Elsevier B.V.)

Objective: To review the difficulties that can occur during cochlear implant surgery in patients with inner ear abnormalities and the management thereof., Methods: A retrospective chart review of 316 patients who received cochlear implants was conducted. The data collected included the types of inner ear anomalies, intraoperative findings, and the clinical management strategies. A review of the literature was also performed., Results: A total of 24 patients with inner ear malformations who underwent 28 total cochlear implant procedures were identified. The anomalies included isolated large vestibular aqueducts in 8 (33.3%) patients, isolated semicircular canal dysplasia in 8 (33.3%) patients, classical Mondini malformation in 7 (29.1%) patients, and cochlear hypoplasia in 1 (4.1%) patient. Four (14.2%) patients exhibited intraoperative cerebrospinal fluid (CSF) gushers. One patient experienced delayed facial nerve paralysis, and an electrode was partially inserted into one patient. In 2 (7.14%) cases, the surgeries were aborted because of difficulties., Conclusion: Cochlear implantation for inner ear anomalies can be performed safely. Special attention should be given to preoperative imaging to anticipate the potential intraoperative risks that can occur in inner ear anomaly cases. Every surgery should be planned with a safe approach and specific requirements, e.g., regarding electrode type, and the surgeries must be performed by experienced surgeons who are capable of modifying their technique according to the surgical findings., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

We report VEMP results in a patient with aplasia of bilateral semicircular canals and a small vestibular cavity. The patient was a 27-year-old male. The computed tomograph showed absolutely no formation of his semicircular canals, together with hypoplasia of his vestibular cavity and cochlea in both ears. His oVEMP was recorded near the extraocular muscles on the left side when elicited by BCV in the Fz. The clinical profile of this patient suggested that oVEMP elicited by BCV recorded near the extraocular muscles originated from otolithic end organs, and not from semicircular canal afferents., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Objective: Radiological and genetic examination has recently advanced for diagnosis of congenital hearing loss. The aim of this study was to elucidate the prevalence of inner-ear and/or internal auditory canal malformations in children with unilateral sensorineural hearing loss (USNHL) for better management of hearing loss and genetic and lifestyle counseling., Methods: We conducted a retrospective study of charts and temporal bone computed tomography (CT) findings of 69 consecutive patients 0-15 years old with USNHL. In two cases, genetic examination was conducted., Results: Of these patients, 66.7% had inner-ear and/or internal auditory canal malformations. The prevalence of malformations in infants (age <1 year) was 84.6%, which was significantly higher than that in children 1-15 years old (55.8%; p<0.01). Almost half of the patients (32; 46.4%) had cochlear nerve canal stenosis; 13 of them had cochlear nerve canal stenosis alone, and in 19 it accompanied other malformations. Internal auditory canal malformations were observed in 22 subjects (31.8%), 14 (20.3%) had cochlear malformations, and 5 (7.2%) had vestibular/semicircular canal malformations. These anomalies were seen only in the affected ear, except in two of five patients with vestibular and/or semicircular canal malformations. Two patients (2.9%) had bilateral enlarged vestibular aqueducts. Mutations were found in SLC26A4 in one of the two patients with bilateral large vestibular aqueducts. The prevalence of a narrow internal auditory canal was significantly higher in subjects with cochlear nerve canal stenosis (50.0%) than in subjects with normal cochlear nerve canals (11.1%; p<0.01). There were no correlations between the type and number of malformations and hearing level., Conclusions: The prevalence of inner-ear and/or internal auditory canal malformations detected by high-resolution temporal bone CT in children with USNHL was very high. Radiological and genetic examination provided important information to consider the pathogenesis and management of hearing loss. Temporal bone CT should be recommended to children with USNHL early in life. SLC26A4 mutation also should be examined in cases with bilateral enlarged vestibular aqueduct., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

Superior semicircular canal dehiscence is a well described labyrinthine defect, detect in pediatric population too. We report a case of superior semicircular canal dehiscence, which radiological diagnosis was confirmed by multiplanar reformatted CT images, associated to omolateral enlarged vestibular aqueduct in a 16-year-old female who presented with congenital hearing loss without vestibular symptoms. Both inner ear malformations act as a third mobile window into the labyrinth and cochleo-vestibular symptoms can result from loud sounds or pressure changes. An early diagnosis should be strived for preserve inner ear functions., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

Trisomy 22 has multiple physical anomalies, and aural malformations are commonly associated with trisomy 22. However, there has been only one report describing the temporal bone histopathology in trisomy 22. Our case is the second reported temporal bone histopathology of trisomy 22. Aural anomalies in this case were less serious than those earlier described, though showing Mondini dysplasia of the bony and membranous labyrinth. Deafness in patients with trisomy 22 may manifest sensorineural, conductive or mixed hearing losses, and/or vestibular dysfunction of varying degrees, according to the site and severity of aural anomalies.

In children with semicircular canal anomalies, vestibular compensation during their development and growth was studied. The damped rotation test elicited 'absence or poor per-rotatory nystagmus and absence of post-rotatory nystagmus in all cases. Development of gross motor and balance function was seriously delayed in each case during the first 2 or 3 years of life. Thereafter, during the pre-school age, all children could achieve most landmarks of motor development, such as head control, independent walking and running. However, balance functions at the age of entrance of the elementary school (6 years old) were variously impaired in each case. The better case could swim under water but the poor case could not maintain static balance with eyes closed. These motor skills due to vestibular compensation presumably depend on integration of the compensatory input from visual, somatosensory and proprioceptive senses, and the maturation of motor control systems in the cerebellum, basal ganglia and motor cortex.

Six cases of the CHARGE association are described that were encountered consecutively at an institute for the deaf. Five of them showed external ear anomalies and according to expectations all of them showed some degree of hearing impairment: two had moderate mixed hearing loss; three had severe to profound sensorineural hearing loss; and one was completely deaf. In addition, they all had vestibular areflexia and the five cases examined with computer tomography of the petrosal bones showed aplasia of the semicircular canals. One case with poor visual acuity also showed subnormal optokinetic responses and horizontal pendular nystagmus during visual fixation. All these children were initially diagnosed as having severe psychomotor retardation, because of their failure to acquire speech and their delayed motor skill development. Given the fact that (mild) mental retardation was found in only one case, the delayed development could at least in part have been caused by vestibular areflexia. The vestibular findings support previously reported temporal bone findings that indicate dysplasia or aplasia of the superior part of the labyrinth. Early detection of the full extent of (multiple) sensory deficits is necessary in children with the CHARGE association who have similar abnormalities, because aggressive intervention and special educational support are likely to be of great benefit to sensorimotor development.