Congenital Profound Sensorineural Hearing Loss Research Articles

Early-stage use of hearing aids preserves auditory cortical structure in children with sensorineural hearing loss.

Hearing is critical to spoken language, cognitive, and social development. Little is known about how early auditory experiences impact the brain structure of children with bilateral sensorineural hearing loss. This study examined the influence of hearing aid use and residual hearing on the auditory cortex of children with severe to profound congenital sensorineural hearing loss. We evaluated cortical preservation in 103 young pediatric cochlear implant candidates (55 females and 48 males) by comparing their multivoxel pattern similarity of auditory cortical structure with that of 78 age-matched children with typical hearing. The results demonstrated that early-stage hearing aid use preserved the auditory cortex of children with bilateral congenital sensorineural hearing loss. Children with less residual hearing experienced a more pronounced advantage from hearing aid use. However, this beneficial effect gradually diminished after 17months of hearing aid use. These findings support timely fitting of hearing aids in conjunction with early implantation to take advantage of neural preservation to maximize auditory and spoken language development.

Impact of inner ear malformation and cochlear nerve deficiency on the development of auditory-language network in children with profound sensorineural hearing loss.

Profound congenital sensorineural hearing loss (SNHL) prevents children from developing spoken language. Cochlear implantation and auditory brainstem implantation can provide partial hearing sensation, but language development outcomes can vary, particularly for patients with inner ear malformations and/or cochlear nerve deficiency (IEM&CND). Currently, the peripheral auditory structure is evaluated through visual inspection of clinical imaging, but this method is insufficient for surgical planning and prognosis. The central auditory pathway is also challenging to examine in vivo due to its delicate subcortical structures. Previous attempts to locate subcortical auditory nuclei using fMRI responses to sounds are not applicable to patients with profound hearing loss as no auditory brainstem responses can be detected in these individuals, making it impossible to capture corresponding blood oxygen signals in fMRI. In this study, we developed a new pipeline for mapping the auditory pathway using structural and diffusional MRI. We used a fixel-based approach to investigate the structural development of the auditory-language network for profound SNHL children with normal peripheral structure and those with IEM&CND under 6 years old. Our findings indicate that the language pathway is more sensitive to peripheral auditory condition than the central auditory pathway, highlighting the importance of early intervention for profound SNHL children to provide timely speech inputs. We also propose a comprehensive pre-surgical evaluation extending from the cochlea to the auditory-language network, showing significant correlations between age, gender, Cn.VIII median contrast value, and the language network with post-implant qualitative outcomes.

Melody of Vocants: Fixed Pattern or Shaped by Hearing?

Vocants as infants' first vocalic utterances are produced laryngeally while the vocal tract is maintained in a neutral position. These "primitive" sounds have sometimes been described as largely innate and, therefore, as sounding alike in both healthy and hearing-impaired young infants. The objective of this study is to compare melody features of vocants, recorded during face-to-face interaction, between infants (N = 8) with profound congenital sensorineural hearing loss (HI group) and age-matched (N = 18) controls (CO) group. The question was as follows: does a lack of auditory feedback have a noticeable effect on melodic features of vocants? The cooing database totalled 6,998 vocalizations (HI: N = 2,847; CO: N = 4,151), all of which had been recorded during the observation period of 60-181 days of age. Identification of the vocants (N = 1,148) was based on broadband spectrograms (KAY-CSL) and auditory impressions. Fundamental frequency (F0) analyses were performed (PRAAT) and the pattern of the F0 contour (melody) analysed using specific in-lab software (CDAP, pw-project). Generalized mixed linear models were used to perform group comparisons. There was a clear predominance of a simple rising-falling pattern (single melody arcs) in vocants of both groups. Nonetheless, significantly more complex contours, particularly, double-arc structures, were found in vocants of the CO group. Moreover, vocants of the HI group were shorter than those uttered by the CO group, while the mean F0 did not significantly differ. Vocants are characterized by both, innate features, found in HI and CO groups, and features that additionally require a functioning auditory system. Even at an early pre-linguistic stage, somatosensory sensations cannot compensate for a lack of auditory feedback. Vocants might be relevant in the early diagnosis of hearing disorders and assessments of the effectiveness of, or adjustments required to, hearing aids.

Management of Bilateral Congenital Sensorineural Hearing Loss with Cochlear Implant Surgery in a child with Developmental Delay: A Case Report

Background : Most people have congenital hearing loss. This type of hearing loss happens during pregnancy. The causes are Prematurity, maternal hyperglycemia, anoxia before birth, genetics, and infectious disorders like rubella transmitted from mother to baby in utero. Early diagnosis of hearing loss in some neonates allows for timely treatment with cochlear implants or hearing aid treatment to support language development. Cochlear implants may enable better speech comprehension in both quiet and noisy situations with the aid of therapy. Case Presentation : We discuss Bilateral Congenital Profound Sensorineural Hearing Loss with Developmental Delay and Cochlear Implant Surgery. This 2.5-year-old female child registered in the ENT department, with the chief complaint of inability to hear by both ears and inability to speak. The child was aged 2.5 years and responded only to loud sounds. An examination and evaluation of a doctor confirmed the diagnosis of bilateral severe hearing loss with developmental delays. Therapeutic Management : Medication was given to a child as per the doctor’s order, Ivf DNS 400ml +Inj. KCL 4ml 8 Hourly, Inj. Cefuroxime 700 Mg Bd, Inj Pan 15mg Od, Inj. Emeset 1.5 Mg Tds, Inj. Neomol 20ml Tds, Inj. Dexa 2 Mg Bd, SypIbugesic Plus 7ml Tds ,Syp. Taxol Dx 3.5 ml Tds Syp. Sinarest 1 Tsp, N/D Otrivin (P) 2 Drops Tds. Child was treated with cochlear implant surgery. After treatment child’s condition improved. Conclusion : Timely intervention can be beneficial to improve the hearing sense and ultimately development of child with Sensorineural hearing loss.

Cochlear nerve dysplasia in unilateral severe to profound congenital sensorineural hearing loss – Prevalence in Australian children and the impact of socioeconomic disadvantage on its management

Congenital unilateral sensorineural hearing loss (cuSNHL) carries potentially significant social, educational, and developmental consequences. Early diagnosis enables investigation, and consideration of options for management and early intervention, helping to mitigate the effects of hearing loss. Cochlear nerve dysplasia (CND) is a prominent cause of cuSNHL and may affect candidacy for cochlear implantation. Socioeconomic disadvantage may impact on a patient's family's capacity to participate in necessary intervention and follow-up. Infants with severe-profound cuSNHL referred to a large Australian quaternary pediatric center between October 2004 and December 2020 were retrospectively included. Audiometric and clinical data, and the presence of hearing loss risk factors were obtained from a prospectively collated database. In Australia MRI scans are provided free-of-charge to citizens and residents. MRI scans were reviewed to determine the status of the nerves within the internal acoustic meatus (IAM grade) along with attendance rates. Travel distance to the hospital was also calculated. Reasons for non-attendance at MRI were obtained from patient medical records and correspondence. Socioeconomic, educational, and occupational indices, and travel distances were obtained using patient residential postcodes with reference to Australian Bureau of Statistics data. A total of 98 patients were reviewed, 64.3% (n=63) of whom underwent MRI. The median age at diagnosis was 40 days (IQR 27). The prevalence of CND was 75% (n=47). Importantly, there was no significant difference in the degree of hearing loss between IAM grades (F(4,57)=1.029, p=0.405). Socioeconomic indices were significantly lower in patients not attending MRI investigations compared with patients who did attend. Travel distance was not significantly different between the two groups. CND is a prominent cause of cuSNHL in Australian infants. MRI at a young age allows parent education regarding management options and timely intervention where indicated. Socioeconomic disadvantage significantly impacts on participation in further routine assessment of cuSNHL, potentially limiting management options for these children long term.

Novel Mutations in LRTOMT Associated with Congenital Profound Sensorineural Hearing Loss in a Chinese Patient

Novel Mutations in LRTOMT Associated with Congenital Profound Sensorineural Hearing Loss in a Chinese Patient

SMS classification of inner ear malformations: our experience with implantation in type II anomalies.

To study and analyse the radiological and surgical findings of 24 cochlear implantees with SMS type II cochleovestibular malformation and to compare their outcomes in terms of hearing and speech gains pre- and postoperatively. Retrospective analysis of cochlear implanted candidates over a period of 8year 6months from 3 institutions was undertaken and 24 patients suffering from prelingual profound congenital sensori-neural hearing loss along with the presence of SMS type II cochleovestibular malformation were studied. Preoperative radiology, surgical difficulties and complication, and postoperative hearing and speech outcomes up to a period of 2years, using IT-MAIS and SIR scores were noted. Statistical comparison pre- and postimplantation was done using Wilcoxon signed rank test and a p value of < 0.05 was considered statistically significant. In 24 cases, we encountered four cases of SMS type IIa malformation with a smaller modiolus, while the rest 20 were type SMS type IIb with partially defective modiolus. Intraoperatively, CSF leak was observed in 11 patients. Complete electrode insertion and good electrical response (NRT) was detected in all. No facial nerve anomaly was encountered. IT-MAIS and SIR scores increased from a preoperative mean of 5.6 and 1.16-34.56 and 3.88 after 2 years postsurgery, respectively and this difference was found to be statistically significant. Our experience with SMS Type II malformations show promising and motivating results with less chances of complications. Proper evaluation and surgical planning preoperatively can lead to an uneventful surgery with good outcomes. A simple and uniform classification system of these anomalies is a must for appropriate prognostication and right decision making.

New SMS Classification of Cochleovestibular Anomalies: Our Experience with 25 Cases of Type I Anomaly.

To study and analyse the radiological and surgical findings of 25 cochlear implantees with SMS type-I cochleovestibular malformation and to compare their outcomes in terms of hearing and speech gains pre- and post-operatively. Retrospective analysis of cochlear implanted candidates over a period of 8year from 3 institutions was undertaken and 25 patients suffering from pre-lingual profound congenital sensori-neural hearing loss along with presence of SMS type I cochleovestibular malformation were studied. Pre-operative radiology, surgical difficulties and complication, and post-operative hearing and speech outcomes upto a period of 2years, using IT-MAIS scores were noted. Statistical comparison pre- and post-implantation was done using Wilcoxon signed rank test and a p-value of < 0.05 was considered significant. In 25 cases, we encountered 2 posterior SCC dysplasia, 15 enlarged vestibular aqueducts (LVA), 2 dilated vestibules, 4 superior SCC dysplasia, 2 cases with both posterior and superior SCC dysplasia and of those 1 had a dilated vestibule also. Intra-operatively, CSF leak was observed in 10 patients. Complete electrode insertion and good electrical response (NRT) was detected in all. No facial nerve anomaly was encountered. IT-MAIS scores increased from a pre-operative mean of 4.32 to 34.56 two years post-operatively and this difference was found to be statistically significant. Our experience with SMS Type I malformations show promising and motivating results with less chances of complications, similar to implant candidates with normal anatomy. The outcomes in this group of patients are definitely not affected by any malformations in semicircular canals, vestibule or vestibular aqueduct.

Complications of Cochlear Implant Surgery: A Public Implant Centre Experience

Objectives:To determine the prevalence of complications of cochlear implant surgery in children with congenital profound sensorineural hearing loss.Methods:This study retrospectively & consecutively reviewed charts of children who underwent cochlear implantation from July 2015 to July 2019 at Cochlear Implant Centre of Otolaryngology Department of Capital Hospital, Islamabad Pakistan. These included cases of both genders aged one to 12 years operated at least one year before the time of data collection. Basic demographic data, complications including major and minor complications and treatment received was noted and statistically analyzed using SPSS-23. Results were presented using descriptive statistics.Results:Current study included a sample of N=251 having a mean age of 4.05±2.15 years including 154(61.4%) males and 97(38.6%) females revealed a prevalence of complications of 16(6.4%) with 4(1.6%) major and 12(4.8%) minor complications. Wound infection and acute otitis media with frequency of 3(1.2%) each were the commonest complications, followed by , facial nerve twitching, tinnitus and vertigo, infection and extrusion; and device failure in 2(0.8%) each. However, there was no significant association of complications with age group and gender with P=0.344 and P=0.519 respectively.Conclusion:Present public sector implant program is characterized with a very low prevalence of complications of 16(6.4%) with 4(1.6%) major and 12(4.8%) minor complications. Wound infection and acute otitis media were the commonest complications.

Does early cochlear implantation promote better reading comprehension skills?

Objectiveto investigate the effect of age at CI activation and to explore the role of other variables such as linguistic skills, stimulation modality and gender on reading comprehension. Study designProspective observational nonrandomized study. Methods89 children with profound congenital sensorineural hearing loss were included in the study. The mean age at CI activation was 21 months (DS ± 11; range 7–50). The Italian reading standardized test, “Prove di lettura MT”, was used to assess reading comprehension. The individual raw data MT score were converted into z scores (expected values: means = 0 and SD = 1). The positive values indicated better performance and negative values indicated worse performance. ResultsEarly implanted children achieved significantly better reading comprehension skills, 55 out of 89 children are within 1 SD from the overall mean. 34 children (38.2%) attainted MT z-scores less than 1 SD below the mean.Children with unilateral CI performed somewhat worse if compared to bilateral CI and bimodal stimulation mode, although the differences were weakly significant from a statistical point of view. A strong and positive correlation (rho .69, p < .001) was found with the lexical and morphosyntactic comprehension (rho .70, p < .001). Not significantly different values were observed for gender and parental education level. ConclusionEarly cochlear implantation promoted better development of reading skills in children with cochlear implantation. Level of evidencesoutcomes research.

Introduction and clinical aspects in Usher syndromes

AbstractUsher syndrome (USH, OMIM 276900, OMIM 276905, OMIM 605472, ORPHA: 886) is the most prevalent deaf‐blindness of genetic origin. It is a recessive inherited disease characterized by sensorineural hearing loss (HL), visual loss due to retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. Prevalence estimates range from 3.2 to 6.2/100,000. Patients with USH are classified into three clinical subtypes (USH1, USH2, or USH3), based on the severity and progression of hearing impairment and the presence or absence of vestibular dysfunction. Usher syndrome type I (USH1) is the most severe type, characterized by severe to profound congenital sensorineural hearing loss, vestibular dysfunction and prepubertal onset of RP eventually leading to legal blindness. USH2 is characterized by moderate to severe hearing impairment, normal vestibular function and later onset of retinal degeneration. USH3 displays progressive hearing loss, RP and variable vestibular phenotype. In the last years, next generation sequencing (NGS) techniques have revolutionized the world of the molecular genetic diagnosis. NGS has allowed to molecularly characterize a high number of patients, thus permitting to establish some phenotype‐genotype correlations that had been elusive to date.

Assessing Cerebral White Matter Microstructure in Children With Congenital Sensorineural Hearing Loss: A Tract-Based Spatial Statistics Study.

ObjectivesTo assess the microstructural properties of cerebral white matter in children with congenital sensorineural hearing loss (CSNHL).MethodsChildren (>4 years of age) with profound CSNHL and healthy controls with normal hearing (the control group) were enrolled and underwent brain magnetic resonance imaging (MRI) scans with diffusion tensor imaging (DTI). DTI parameters including fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity were obtained from a whole-brain tract-based spatial statistics analysis and were compared between the two groups. In addition, a region of interest (ROI) approach focusing on auditory cortex, i.e., Heschl’s gyrus, using visual cortex, i.e., forceps major as an internal control, was performed. Correlations between mean DTI values and age were obtained with the ROI method.ResultsThe study cohort consisted of 23 children with CSHNL (11 boys and 12 girls; mean age ± SD: 7.21 ± 2.67 years; range: 4.1–13.5 years) and 18 children in the control group (11 boys and 7 girls; mean age ± SD: 10.86 ± 3.56 years; range: 4.5–15.3 years). We found the axial diffusivity values being significantly greater in the left anterior thalamic radiation, right corticospinal tract, and corpus callosum in the CSHNL group than in the control group (p < 0.05). Significantly higher radial diffusivity values in the white matter tracts were noted in the CSHNL group as compared to the control group (p < 0.05). The fractional anisotropy values in the Heschl’s gyrus in the CSNHL group were lower compared to the control group (p = 0.0015). There was significant negative correlation between the mean fractional anisotropy values in Heschl’s gyrus and age in the CSNHL group < 7 years of age (r = −0.59, p = 0.004).ConclusionOur study showed higher axial and radial diffusivities in the children affected by CNHNL as compared to the hearing children. We also found lower fractional anisotropy values in the Heschl’s gyrus in the CSNHL group. Furthermore, we identified negative correlation between the fractional anisotropy values and age up to 7 years in the children born deaf. Our study findings suggest that myelination and axonal structure may be affected due to acoustic deprivation. This information may help to monitor hearing rehabilitation in the deaf children.

Etiological factors of sensorineural hearing loss in children after cochlear implantation

Introduction: Congenital sensorineural hearing loss is one of the most common sensory defects affecting 1-3 children per 1000 newborns. There are a lot of causes which result in congenital hearing loss, the most common is the genetic origin, but infection, cochlear malformation or other acquired causes can be reasons as well. Aim: The aim of this study was to establish the etiological factors of congenital profound sensorineural hearing loss in children who underwent cochlear implantation. Results: Our results show that the origin of the hearing loss was discovered in 62.9% of our patients. The most common etiological factor was the c.35delG mutation of the gap junction protein β-2 gene, the allele frequency was 38.7% in our cohort. Infection constituted to 10.1%, and meningitis and cytomegalovirus infection were the second most common cause. 79.9% of our patients received sufficient hearing rehabilitation before the end of the speech development's period (6 years old), but 11.2% of our cases were still diagnosed late. Conclusions: Based on our data we can state that genetic evaluation is crucial in the diagnostic process of congenital profound sensorineural hearing loss. Sufficient hearing rehabilitation affects the whole life of the child, and by late cochlear implantation the speech development falls behind. We can decrease the ratio of the late implantation with the new protocol of newborn hearing screening, and with sufficient information provided to the colleagues, so the children may be referred to the proper center for rehabilitation without delay. Orv Hetil. 2019; 160(21): 822-828.

Efficiency of SNPs for the Detection of 35DelG Mutation in 50 Cases with Nonsyndromic Hearing Loss

Congenital sensorineural hearing loss (SNHL) is recognized as a major public health burden. Mutations in the GJB2 gene are among the most frequent encountered etiological factors (approximately 50% of cases of autosomal recessive sensorineural non-syndromic hearing loss in the Caucasian population). Single nucleotide polymorphisms (SNPs) are important markers in studies that correlate the genotype with the phenotype. The main purpose of the study is to develop and validate a molecular-genetic screening algorithm based on the SNP rs80338939 for later use in laboratories in Romania and the Republic of Moldova. A prospective study was conducted on 50 randomly included subjects with profound congenital SNHL. The 35delG mutation was assessed by two methods: a reference method (University Medical Center Freiburg, Germany) and the method to validate: single nucleotide polymorphism (SNP) for the same mutation. We compared the results of the two methods to assess the specificity and sensitivity of the method used in the study. Results obtained indicate a sensitivity of 92% and 98% specificity for the studied method when compared with the reference method. The high sensitivity and specificity of the proposed method confirms that rs80338939 can be used as a biomarker in the assessment of the risk of autosomal recessive SNHL. In fact, we aim to optimize the technique to achieve 100% sensitivity and specificity. At the same time, we acknowledge that the screening of 35delG mutations does not replace the audiological screening tests, because the auditory function involves 1% of the human genes and mutations of any of these may lead to deafness.

Ciliopathy: Usher Syndrome.

Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the photoreceptors) contains cilia, defects in ciliary proteins typically affect multiple organ systems. Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of cases of RP Inheritance is autosomal recessive, and the retinal dystrophy is usually rod-cone dystrophy (Figs. 32.1 and 32.2). These patients have RP with sensorineural hearing loss (partial or complete) since birth; some may have vestibular dysfunction. Most patients retain central vision of about 20/40 until about age 40. Usher Syndrome 1 (USH1): Profound congenital sensorineural hearing loss on audiometry, absent vestibular function, and typical RP (onset by 10 years of age); accounts for about 70% of all Usher cases. Patient may benefit from a cochlear implant. The retinitis pigmentosa occurs at an early age (childhood onset) and progress slowly. Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), normal vestibular function, and typical RP (onset by 20 years of age); accounts for about 26% of all Usher cases. Usher Syndrome 3 (USH3): Progressive sensorineural hearing loss and typical RP (onset in second decade); accounts for about 4% of all Usher cases. Vestibular function is normal in about half of patients, but abnormal in the other half.

Ağır konjenital işitme kaybında glutatyon peroksidaz ve katalaz enzim gen polymorfizmleri

Objective: The aim of this study was to search the codon 200 polymorphism on the glutathione peroxidase 1 gene (GPX1) and A/T changes on the promoter region of the catalase gene (CAT) in cochlear implant patients with congenital profound hearing loss. Methods: Sixty-five cochlear implant patients with congenital hearing loss and 100 age- and gender-matched healthy volunteers were evaluated between 2011 and 2013. Genomic DNA was extracted from peripheral blood samples by using the salting out procedure. The T/A polymorphism in the promoter region of the CAT gene (rs7943316) and GPX1 gene codon 200 proline to leucine substitution (rs1050450) were determined by polymerase chain reaction and restriction fragment length polymorphisms. Results: No statistically significant difference was found in CC and CT genotypes in codon 200 on GPX1 (CC, p=0.10; CT, p=0.48) However, there was a statistically significant difference in the TT genotype (p=0.04). In the CAT promoter region, there was no statistically significant difference between the patients and control groups (AA, p=0.41; TA, p=0.16; TT, p=0.08). Conclusion: As a conclusion, the TT genotype on the GPX1 codon 200 may have a relationship with congenital profound sensorineural hearing loss.

Sequential pediatric bilateral cochlear implantation: The effect of time interval between implants

ObjectiveTo examine speech intelligibility in children subjected to sequential bilateral cochlear implants (CI) surgery and to assess the influence of the inter-stage interval duration. IntroductionBinaural hearing recovery can have additional benefits, especially in speech and language development in patients with congenital profound sensorineural hearing loss; so recently there has been an increase in the number of children receiving bilateral CI. MethodsTwenty-seven children who underwent sequential bilateral cochlear implant (SBCI) with a short (1–3 yrs), medium (4–6 yrs) and long (7–12 yrs) range interval between both implantations, respectively, were evaluated. All patients underwent periodic speech perception test in quiet and noise after second implant activation in three conditions: with the first or second implant alone and with both implants. Results were examined according to the inter-stage interval. ResultsSpeech intelligibility in noise was significantly better under bilateral conditions than either ear alone, in all three groups. Small improvements were seen in quiet, especially in the third group (6–12 yrs). ConclusionBenefits of second implant in the early-implanted children and after a short inter-implant delay are more evident. However our study support that, even after a long period of deafness and despite a prolonged inter-stage interval, sequential bilateral cochlear implantation should be considered.Level of Evidence: Level 4.

Speech processor data logging helps in predicting early linguistic outcomes in implanted children

ObjectiveTo analyse the value of listening-data logged in the speech processor on the prediction of the early auditory and linguistic skills in children who received a cochlear implant in their first 2 years of life. Study designProspective observational non-randomized study. MethodsTen children with profound congenital sensorineural hearing loss were included in the study. The mean age at CI activation was 16.9 months (SD ± 7.2; range 10–24). The auditory skills were evaluated with the Infant Toddler Meaningful Inventory Scale and the Category of Auditory Performance. Lexical level was assessed with the MacArthur-Bates Communicative Development Inventory.The overall data of average daily use and acoustic scene-analyses were extracted from Data Logging system.The effect of the one-year cumulative listening time to speech (in quiet) and speech-in-noise on the auditory and lexical scores was analysed. ResultsA significant positive correlation was found between speech in quiet exposure time at low loudness level (<70 dB) and lexical quotient after one year of CI use. Infant Toddler Meaningful Inventory Scale was negatively correlated with the highest speech-in-noise loudness levels (>80 dB). The Category of Auditory Performance was not related to the logged data. ConclusionThe listening environment can influence the early functional outcomes in younger implanted children. In this perspective, the data logging system is a promising tool in predicting early linguistic and auditory outcomes.

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

BackgroundJervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2.Case presentationWe report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. We performed Sanger sequencing and identified a homozygous variant in KCNQ1 (c.1343dupC, p.Glu449Argfs*14).ConclusionsThe identification of the genetic substrate in this patient confirmed the clinical diagnosis of Jervell and Lange-Nielsen syndrome and allowed us to provide him with appropriate management and genetic counseling to his family. In addition, this finding contributes to our understanding of genetic disease in the Moroccan population.

Does cerebellar flocculus size affect subjective outcomes in pediatric auditory brainstem implantation

ObjectivesThe objectives of study was to 1) Describe relevant surgical anatomy in defining and accessing the lateral recess for placement of electrode, 2) Propose a working classification for grades of Flocculus; 3) To determine if different grades of cerebellar flocculus effects placement of ABI electrode and subjective outcomes in implantees. MethodsOur study was a prospective study, and comprised of cohort of 12 patients who underwent ABI surgery via retrosigmoid approach between 1 Jan 2012 to 31 Dec 2014. All children with congenital profound sensorineural hearing loss with either absent cochlea or cochlear nerve were included in the study. Relevant anatomy was noted. We also noted down the difficulty encountered during the placement of ABI electrode. Auditory perception and speech intelligibility was scored post operatively for 1 year. ResultsCerebellar flocculus was divided into 4 grades depending on the morphology of cerebellar flocculus. It was noted that Grade 3 & 4 flocculus (Group B) had difficult ABI electrode placement in comparison to Grade 1 & 2 flocculus (Group A). The subjective outcomes of Group A was better than Group B. However the p value was not statistically significant. ConclusionCerebellar flocculus can be graded depending on morphology and size. Flocculus of higher grades can make the placement of ABI electrodes difficult and adversely effects the postoperative subjective outcomes.