Functional and Objective Audiovestibular Evaluation of Children With Apparent Semicircular Canal Dehiscence–A Case Series in a Pediatric Vestibular Center

Semicircular canal dehiscence is a bony abnormality in the otic capsule especially involving the superior semicircular canal. Since its identification in 1998, there is significant research regarding the pathology in the adult population. This condition generates a third window effect that is well–described in the literature. However, the entity is rare in the pediatric population with limited research. Difficulties encountered in children are obtaining a direct history that is essential for the diagnosis followed by neurovestibular tests that may be difficult to perform. This study presents observations regarding different clinical and diagnostic aspects of semicircular canal dehiscences in children as a retrospective audit in a tertiary pediatric vestibular center. Of 580 children assessed in a 30 months period undergoing comprehensive functional and objective audiovestibular assessment, 13 children (2.2%) were detected to possess radiological semicircular canal dehiscences (high resolution computed tomography scans at 0.625 mm slices reformatted in the axial, coronal and sagittal planes). The right superior semicircular canal was most commonly affected (66.6%). There were 4 bilateral semicircular canal dehiscences. Clinical suspicion of the condition was raised with reliable surrogate history from carers or from older children (100%), a mixed or conductive hearing loss (80% of hearing losses) in the presence of normal impedance audiometry (92.3%), normal transient otoacoustic emissions (84.6%) on the side of the dehiscence and the presence of replicable pathological saccades in the video head impulse test (76.9%). Disequilibrium symptoms and typical third window symptoms were absent or difficult to elicit in children (46.15 and 30.76% respectively). Only 3 (0.5%) fulfilled the adult criteria of a superior semicircular canal dehiscence syndrome. The abnormal video head impulse test characterized by pathological saccades may affect other non-dehisced ipsilateral canals. Semicircular canal dehiscences are rare in children but may be considered as an etiology for hearing losses and imbalance. Children with semicircular canal dehiscence may present differently from the classical superior semicircular canal dehiscence syndrome found in adults

Suppression head impulse test in children—experiences in a tertiary paediatric vestibular centre

The suppression head impulse paradigm (SHIMP) involves suppression of the vestibulo-ocular reflex (VOR) and anticompensatory saccades generated thereof. SHIMP is gaining importance to understand vestibular compensation with its different parameters (VOR gain/peak saccadic velocity PSV/latency of saccades). SHIMP studies are emerging in adults, but pediatric studies have hardly been performed. This study is a retrospective case note audit over a period of 2 months in a tertiary pediatric vestibular center in the United Kingdom to investigate whether SHIMP is safe/robust to be used in children conforming to existing standards/norms in normal children and whether it yields any meaningful inferences in pediatric vestibular hypofunction. This is the largest pediatric SHIMP study to date. A total of 44 referred children (6–18 years, female children>male children) with a range of complaints from dizziness, imbalance, motor incoordination, postural instability, and hearing loss were included, and their SHIMP parameters were measured. All children underwent comprehensive functional/objective audiovestibular assessments. Two groups were defined—Group A with normal vestibular function and Group B with abnormal vestibular function. The normal population showed an average SHIMP VOR gain of 0.98+/−0.08 and latency of overt saccades at 215.68+/–46.16 milliseconds agreeing with published evidence. The PSV of overt saccades was 315.39+/−56.30/s, and there was a gain asymmetry of 7.42+/−4.68 between the sides. Statistically significant differences with moderate/large effect sizes were observed between the groups in terms of VOR gain and PSV but not in saccade latencies. Covert saccades were rare in SHIMP, while overt saccades were observed in 100% of children. VOR gain difference between the head impulse paradigm (HIMP) and the SHIMP was significant as well. We observed statistically significant differences in side asymmetry of VOR gain between the groups. Furthermore, we identified a group of children with cerebellar lesions where overt saccades in SHIMP were rather low in number. Further research is recommended to investigate pediatric PSV, asymmetry, and inability to generate overt saccades that may suggest useful means to assess compensation and central function. We conclude that SHIMP yields valuable information and is a safe, easy to perform, and a reliable test that should be used in children to supplement HIMP

Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation.

The gene MED13 participates in transcription. The MED13L gene is a paralog of MED13 that is involved in developmental gene expression. Mutations in the gene have been shown to result in a heterogenous phenotype affecting several physiological systems. Hearing loss has been reported very rarely, and vestibular weakness has never been reported in the condition. In this report, we present a mutation of MED13L in c.1162A > T (p.Arg388Ter), where we detail and describe a cochleovestibular phenotype with objective vestibulometry for the first time. The child showed bilateral sloping sensorineural hearing loss, a bilateral vestibular weakness, and an inner ear vestibular structural abnormality on imaging. Early intervention with hearing aids and vestibular rehabilitation led to a favorable outcome in terms of speech, communication, and balance. We emphasize the importance of comprehensive audiovestibular assessment in children diagnosed with MED13L mutations for effective management of these children

Alexander Crum Brown: A Forgotten Pioneer in Vestibular Sciences

Although vestibular anatomy was described in the Renaissance period, research in vestibular physiology began in the 1820s and was spearheaded by Purkinje and Flourens. This was subsequently expanded by Meniere, Helmholtz, Goltz, Mach, Breuer, Ewald, and Hogyes, who are regarded as the early pioneers in research on vestibular physiology in the 19th century. The relationship of endolymphatic flow and semicircular canal function is termed theMach-Breuer hypothesis. What is less well known is that a Scottish chemist, Alexander Crum Brown, arrived at similar conclusions as Mach and Breuer at the same time quite independently. In fact, he pioneered several concepts in vestibular physiology that included pairing of semicircular canals for function, the vestibular pathway, optic fixation elimination in vestibular experimentation, the theory of motion intolerance, and study in deaf mutes for insights into vestibular pathology and vestibular compensation. This article is a tribute to this forgotten pioneer in vestibular research

Vincent Van Gogh and the elusive diagnosis of vestibular migraine

Vincent Van Gogh (1853-1890) was a creative genius and one of the greatest painters in history. He was a troubled soul plagued with an inner turmoil driven by his social, financial, personality and medical/psychiatric afflictions. His life has fascinated academic scholars of many disciplines who have researched extensively on his life and works. From his voluminous correspondences and contemporary medical records, his medical/psychiatric illnesses have been analysed in detail and several diagnostic formulations proposed. These include temporal lobe epilepsy, intermittent acute porphyria, Meniere's disease, lead poisoning, sexually transmitted diseases, terpene/absinthe/alcohol abuse, ophthalmological disorders in addition to chronic bipolar disorder, schizophrenia, personality and anxiety disorder and narcissism/neuroticism. We hypothesized a new diagnosis in the form of vestibular migraine for Van Gogh which is a migraine variant but distinct from the classical migraine variety. Our hypothesis is unique as it also considers that this condition due to its recognised associations with Van Gogh's proposed illnesses could have influenced his other conditions and thus offers a common unifying factor to explain his illness symptoms. We tested our hypothesis by individually analysing all of Van Gogh's correspondences in the original French and Dutch as well as English translations. Further, we considered the existing literature on Van Gogh's other illnesses and contemporary medical records. Van Gogh fulfilled all the criteria for vestibular migraine as formulated by Barany Society and International Classification of Headache Disorders (ICHD) 3 with episodic dizziness, present or past history of classical migraine, headache, photophobia, phonophobia and visual and position triggered vertigo with no other otologial cause to explain his symptoms (including Meniere's disease). Furthermore, it appears that vestibular migraine could have interacted with most of his other proposed illnesses. We also observed that this condition influenced his art following onset for example, in his use of colours and depiction of his subject matter with a consistent vertical tilt on the left. It is anticipated that our hypothesis will add a new dimension to the understanding of his illnesses and increase the awareness of the complex condition of vestibular migraine that to this day has limited awareness amongst the medical and general fraternity

Caloric stimulation of the labyrinth and some forgotten pioneers

Introduction: Understanding the physiology of the caloric stimulation of the vestibular end organ was a seminal discovery in the history of neurotology. Robert Barany has been traditionally credited with this (1906). However, well before Barany, three scientists observed, qualified and quantified a similar phenomenon with different explanations. They were Charles Edouard Brown Sequard (1858), A Bornhardt (1876) and Benno Baginsky (1881)

Diabetic Peripheral Neuropathy and its Association with Diabetes Self-care: A Clinic-based Study in an Urban Health Centre, Kolkata

Introduction: Diabetes mellitus is considered as silent epidemic worldwide including India. Peripheral neuropathy is one of the most common complications of diabetes mellitus. Diabetes Self-Management (DSM) is crucial in mitigating the afflictions of diabetes and it’s after effects. There was dearth of studies in view of Diabetic Peripheral Neuropathy (DPN) and diabetes self-management in Kolkata, West Bengal. Aim: To assess the associations between diabetes selfmanagement and DPN in Type 2 Diabetes Mellitus (T2DM) patients attending an urban health clinic in Kolkata. Materials and Methods: This study was conducted from December 2018 to March 2019 among known case of T2DM patients aged 30 years and above attending the NonCommunicable Disease (NCD) clinic at Chetla, under the purview of field practice areas of Urban Health Unit and Training centre (UHU and TC) of All India Institute of Hygiene and Public Health (AIIH and PH) Kolkata, West Bengal. A pre-designed and pretested schedule was used to collect data which were analysed using International Business Machines Statistical Product and Service Solutions (IBM SPSS) version 16.0 and represented using various tables. Results: The mean (SD) age of the participants was 54.89 (8.98) years. About 32.4% of the patients had DPN which was significantly associated with increased duration of T2DM {AOR (95% CI)}={1.52 (1.22-1.91)}, lower glucose management sub-scale score {AOR (95% CI)}={2.84 (1.42-5.67)} and lower healthcare use sub-scale score {AOR (95% CI)}={1.86 (1.05-3.31)}. Conclusion: Early screening and education regarding diabetes self-care would be helpful in glycaemic control and in prevention of DPN

X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

Conductive hearing losses are typically present in disorders of the external/middle ear. However, there is a rare group of inner ear conditions called third windows that can also generate a conductive hearing loss. This is due to an abnormal connection between the middle and the inner ear or between the inner ear and the cranial cavity. X-linked gusher disorder is an extremely rare congenital inner ear dysplastic syndrome with an abnormal connection due to a characteristic incomplete cochlear partition type III and an incomplete internal auditory meatus fundus. The disorder is inherited in an X-linked fashion due to the mutation of the POU3F4 gene. We present two siblings diagnosed with the condition and their long-term follow-ups. They both presented audiovestibular symptoms and showed progressive mixed losses and bilateral vestibular weakness. They were treated with cochlear implant, digital amplification and with vestibular rehabilitation. Significant others around them were involved in their journey with the medical team, and in both, a very favourable outcome was achieved. This is the first time that we have reported evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively