[Management of microtia in children]. / Prise en charge de la microtie chez l'enfant.

Microtia is a malformation of the external ear with a prevalence of 1-17/10 000 births. It is mostly unilateral and is responsible for conductive hearing loss. It is present in some congenital syndromes but is most frequently isolated. It can be associated with atresia of the external auditory canal (EAC) as well as middle and inner ear malformations. While cosmetic issues seem to be of primary concern to parents at the time of diagnosis, functional audiological rehabilitation is essential for the development of stereophonic hearing in children. We present here a review of the current ENT management of microtia from birth to adulthood.

La microtie est une malformation concernant l'oreille externe et a une prévalence de 1 à 17/10000 naissances. Présente de manière majoritairement unilatérale, elle est responsable d'un déficit auditif de transmission. Elle est présente dans certains syndromes congénitaux, mais est le plus fréquemment isolée. Elle peut être associée à une atrésie du conduit auditif externe (CAE) ainsi que des atteintes de l'oreille moyenne et interne. Si l'atteinte esthétique semble être au premier plan dans la préoccupation des parents lors du diagnostic, la réadaptation fonctionnelle audiologique est importante pour le bon développement d'une audition stéréophonique chez les enfants. Nous présentons ici un rappel de la prise en charge actuelle ORL de la microtie, de la naissance jusqu'à l'âge adulte.

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.

Changes in Hearing Threshold and Tinnitus Severity after Stapes Surgery: Which Is More Important to the Patient's Quality of Life?

BACKGROUND: Stapes surgery is a common method of treatment of otosclerosis, and its effectiveness is reported based on audiometric hearing thresholds. Audiometric tests do not gauge the impact of tinnitus severity and auditory function on quality of life (QOL) after stapes surgery. OBJECTIVE: To measure self-assessed QOL in otosclerosis patients after stapedotomy in terms of three major factors: change in audiometric hearing threshold, subjective hearing benefit, and tinnitus severity. METHOD: This prospective clinical study included 191 patients who underwent stapedotomy between April and October 2017 due to otosclerosis. All patients were tested by pure tone audiometry and filled in a questionnaire before surgery and 6 months afterwards. Subjective hearing was assessed with the Abbreviated Profile for Hearing Aid Benefit (APHAB); tinnitus severity was established using the Tinnitus Functional Index (TFI), and the QOL was measured by the Glasgow Benefit Inventory (GBI). RESULTS: Statistical analysis showed that the average GBI total score (mean = 33.7; SD = 23.7) was statistically significantly higher than zero (t = 19.7; p < 0.001). Based on a regression model, all the three variables studied - audiometric hearing thresholds change, APHAB change, and TFI change - had a significant effect on QOL after stapedotomy. Interestingly, the highest beta value (b = 0.040; p < 0.001) was for TFI change, implying that TFI change had the greatest effect on QOL. CONCLUSION: Although the improvement of QOL after stapes surgery undoubtedly depended on improvement in both audiometric and self-reported hearing, the reduction of tinnitus severity had the greatest impact on increase in QOL.

The effects of tympanomastoid paragangliomas on hearing and the audiological outcomes after surgery over a long-term follow-up.

The primary goals of surgery of tympanomastoid paragangliomas (TMPs) are tumor eradication and hearing preservation. Though the surgical management of TMPs has been dealt with widely in the literature, the effects of TMPs themselves on preoperative hearing and the audiological outcomes after surgery have not been analyzed in detail. This article comprehensively evaluates the preoperative hearing and the long-term hearing outcomes after surgery of TMPs. This study is based on a study population of 145 patients which is the largest reported in the literature. The surgical approaches for all patients with TMPs were formulated according to an algorithm developed by the authors. Complete tumor removal with excellent hearing results can be achieved by approaching the tumor classes by the right surgical technique. TMPs could possibly induce sensorineural hearing loss in higher frequencies, and future studies could be directed towards this.

Imaging in children with hearing loss. / Bildgebende Diagnostik bei Schwerhörigkeit im Kindesalter.

BACKGROUND: Since the introduction of hearing screening in Germany in 2009, pediatric hearing disorders are detected at an early stage. Early therapy is essential for language development. Imaging plays a central role in diagnosis and therapy planning. METHOD: Imaging findings of the most relevant causes of pediatric hearing disorders are presented. Specific attention is given to the method used in each case - CT or MRI. RESULTS AND CONCLUSIONS: While CT is the method of choice for conductive hearing loss, a combination of CT and MRI with high-resolution T2-3D sequences has been established as the best diagnostic method for sensorineural hearing loss. The most common causes of conductive hearing loss in childhood are chronic inflammation and cholesteatoma. Congenital malformations of the outer or middle ear are less frequent. In the case of sensorineural hearing loss, the cause is located in the inner ear and/or the cochlear nerve or the cerebrum. In these cases, congenital malformations are the most common cause. KEY POINTS: · CT and MRI are necessary to identify morphological causes of hearing disorders and to clarify the possibility of hearing-improving ear surgery or cochlear implantation.. · Contraindications for surgical procedures must be excluded.. · Anatomical variants that may be risk factors for surgery must be described.. CITATION FORMAT: · Sorge I, Hirsch F, Fuchs M et al. Imaging diagnostics for childhood hearing loss. Fortschr Röntgenstr 2023; 195: 896 - 904.

A retrospective analysis of speech and hearing in patients receiving surgery for submucous cleft palate.

Submucous cleft palate (SMCP) is an uncommon subtype of cleft palate that is associated with symptoms of velopharyngeal insufficiency (VPI), the most common being hypernasal speech. A high proportion of patients also suffer from conductive hearing loss, which is thought to be due to eustachian tube dysfunction. A number of surgical techniques have been proposed to correct the anatomical defect that is responsible for VPI. This exploratory study aims to describe surgical techniques and clinical outcomes in a series of patients who underwent surgical repair of SMCP at a single regional specialist cleft centre between 1999 and 2018. Through a retrospective case note review, records of 57 patients who underwent SMCP repair between the ages of 6 months and 16 years were examined. Patients underwent one of the three surgical techniques: Intravelar Veloplasty, Furlow or a novel technique we have termed as "Hemi-Furlow". Hypernasality, measured on the Great Ormond Street Speech Assessment, showed evidence of improvement post-operatively in all three surgical groups (P<0.005), with no evidence to favour any specific approach. Post-operative complications, including wound dehiscence and fistulae, occurred in nine patients (15.8%). Nine patients (15.8%) required revisional surgery, either due to post-operative complications or persistent speech problems. Otological disease was present in 54.4% of patients, comprising conductive hearing loss due to otitis media with effusion (52.6%) and sensorineural hearing loss (1.8%). There is now a need for large, multi-centre studies with robust outcomes measures to further examine relationships between surgical techniques and clinical outcomes in people born with SMCP.

The Correlation of Clinical Features and Endolymphatic Hydrops Visualized by 3D-Real IR MRI in Children With Sudden Sensorineural Hearing Loss.

OBJECTIVES: To investigate the correlation between clinical features and endolymphatic hydrops (EH) in children with sudden sensorineural hearing loss (SSNHL). METHODS: We collected 30 SSNHL children aged ≤17 years old, all of whom underwent intravenous gadolinium injection. After 4 hours, inner ear 3-dimensional inversion recovery sequence with real reconstruction (3D-real IR) magnetic resonance imaging was performed. Combined with their medical history such as gender, age, disease course, hearing loss, and so on, the results were analyzed. RESULTS: Different degrees of EH were shown in the vestibule or different turns of cochlea in the affected ears of SSNHL children, and 12 (40%) of 30 children showed positive EH. Age, low and middle frequency hearing loss, and other clinical symptoms such as dizziness and ear fullness have been shown to be related to a certain degree of EH in vestibule or cochlea, whereas no relationship was found between EH and other clinical features such as high-frequency hearing loss, gender, affected side, and tinnitus. CONCLUSIONS: Endolymphatic hydrops may not reflect the trend of disease progression over time in children with SSNHL, but the age of onset may be an important factor in the presence or absence of EH. Endolymphatic hydrops may be one of the causes of dizziness and ear fullness but has no obvious connection with the occurrence of tinnitus. Older SSNHL children with dizziness and ear fullness should maintain long-term follow-up to dynamically monitor the changes in EH.

Functional and structural evaluation of hearing in acromegaly.

CONTEXT: The impact of acromegaly on the auditory system remains unknown. OBJECTIVE: This study aimed to examine audiological symptoms and the structure and function of the auditory system in patients with acromegaly. DESIGN/SETTING AND PATIENTS: The study included 44 patients with acromegaly. Pure tone audiometry, speech audiometry, tympanometry, otoacoustic emissions testing, computerized tomography of the temporal bone and magnetic resonance imaging of the ear were performed in all patients. The study also included 36 age- and sex-matched healthy controls. The patients with acromegaly were divided into three subgroups, as follows: controlled disease (n=13); partially controlled disease (n=16); uncontrolled disease (n = 15). RESULTS: In all, 43% of the patients with acromegaly had hearing loss, and 20% had had an episode of otitis in at least one ear. Median pure tone average (PTA) in the patients with acromegaly was 12.5 dB (range: 2-72 dB), vs 8.3 dB (range: 0-20 dB) in the control group (P < 0.001). PTA did not differ significantly between the three patient subgroups. Audiometric tests showed various degrees of hearing loss in at least one ear in 21 patients (48%). Conductive, sensorineural and mixed type hearing loss in at least one ear was noted in 9%, 30% and 18% of the patients, respectively. Auditory imaging showed that 50% of the patients had temporomandibular joint degeneration (TMJD). CONCLUSIONS: Hearing loss is quite common in patients with acromegaly. Contrary to common belief, in this study, conductive hearing loss did not occur more frequently than other types. Based on PTA findings in the controls and patients with acromegaly, acromegaly caused hearing loss, but the level of disease activity had no effect on hearing. Middle ear pressure problems might be caused by increased perilymph because of growth hormone (GH)-related volume overload.

Obstructive sleep apnea in Treacher Collins syndrome.

The aim of the present study was to investigate the prevalence of obstructive sleep apnea syndrome (OSAS) among the Norwegian population with Treacher Collins syndrome (TCS). A secondary aim was to establish whether TCS phenotype severity is associated with OSAS severity. A prospective case study design was used. Individuals who were 5 years old and above with a known diagnosis of TCS in Norway were invited to participate in a study. The study included genetic testing, medical and dental examinations and polysomnography. All participants demonstrated disturbed respiration during sleep; 18/19 met the diagnostic criteria for OSAS. Subjectively evaluated snoring was not a reliable predictor of OSAS. We found no significant association between TCS phenotype severity and the severity of OSAS. OSAS is common in TCS, but there is no association with the phenotype severity. Individuals diagnosed with TCS must undergo sleep studies to identify the presence of OSAS.

Etiologies of hearing loss in Fanconi Anemia.

OBJECTIVES: We aim to describe types of hearing loss associated with Fanconi anemia patients who underwent a bone marrow transplant (BMT) to identify possible etiologies of hearing loss. Additionally, we hope to investigate hearing loss early in life as a potential predictor of needing a BMT surgery. Fanconi anemia is a rare autosomal recessive disease that is the most common inherited bone marrow failure syndrome, characterized by bone marrow failure and multiple congenital anomalies, including hearing loss. This is the largest study to date reviewing types of hearing loss in patients with Fanconi anemia, specifically in those who have undergone BMTs. METHODS: A retrospective chart review of patients diagnosed with Fanconi anemia at a single institution, tertiary, referral-based children's hospital with a bone marrow transplant team specializing in Fanconi anemia was conducted from 4/19/1976 to 10/19/2015. History, physical examination, audiometry, and imaging findings were reviewed in patients with and without history of bone marrow transplant. Patient hearing levels, as measured by pure tone audiometry at 500 Hz, 1, 2, and 4 kHz, were evaluated. Patients were grouped by transplant status and results and were assessed to determine type and degree of hearing loss. Statistical analysis was performed to compare the likelihood of bone marrow transplant procedures in Fanconi anemia patients with normal and abnormal hearing. RESULTS: There were 252 patients with Fanconi anemia identified via diagnosis search in institutional electronic medical records using CPT codes and cross referencing with the Fanconi Anemia database, 58 of whom had available audiometric data. Of the 58 Fanconi anemia patients with available audiograms, 21 (36%) had abnormal audiograms; 37 patients had normal audiograms. Twenty out of 21 (95%) patients who had abnormal audiograms had undergone bone marrow transplants. Thirty-one of 37 (84%) patients with normal audiograms had received bone marrow transplants. Statistical analysis showed that patients with hearing loss were more likely to require a BMT in the future (OR = 3.87, p = 0.05). Of the patients with abnormal audiograms and a bone marrow transplant (n = 20), 14 (70%) had conductive hearing loss, 5 (25%) had mixed hearing loss, and 1 patient (5%) had sensorineural hearing loss. 13 of 20 patients (65%) had bilateral hearing loss and eight of 20 (40%) had unilateral hearing loss. Of those patients with conductive hearing loss (n = 15), the most common etiologies were Eustachian tube dysfunction (47%), external auditory canal stenosis (33%), and abnormal middle ear anatomy (13%). CONCLUSIONS: Hearing loss is a common finding in Fanconi anemia patients who have undergone BMTs with conductive hearing loss being the most common audiologic manifestation in our cohort of patients. This demonstrates the necessity of frequent hearing screenings in this population and close collaboration with audiology throughout patient care. Our study indicates that hearing status early in life may be a predictor of needing a bone marrow transplant in the future. Further studies should explore the long-term impact of BMT surgery on hearing status.

Clinical characteristics of infants identified with a conductive hearing loss through universal newborn hearing screening: A population-based sample.

BACKGROUND: Universal Newborn Hearing Screening (UNHS) aims to identify infants born with a permanent hearing loss. However, many are also diagnosed with a conductive hearing loss (CHL) and are at subsequent risk for developmental delays. The aim of this study was to investigate the prevalence of CHL and determine which clinical characteristics collected at birth, predict CHL within UNHS. MATERIALS AND METHODS: Retrospective analysis was conducted on all infants born between January 01, 2007 and December 31, 2018. During this period, 731,234 infants were screened, 9802 were direct referrals, and 1208 identified with a CHL. Chi squared analysis and logistic regression was conducted to determine CHL prevalence and identify which clinical characteristics predict CHL. RESULTS: The prevalence of CHL was 12.32%. Following adjustments for collinearity, clinical characteristics that could predict CHL were: bilateral referrals/medical exclusions to screen (Odds ratio, OR 1.89; 95% CI: 1.65-2.1), ≥1 risk factor for hearing loss (OR 2.03; 95% CI: 1.76-2.34), pre-term birth (OR 1.82; 95% CI: 1.57-2.10), male (OR 1.21; 95% CI: 1.07-1.37), and Indigenous status: 'Aboriginal (not Torres Strait Islander)' (OR 1.27; 95% CI:1.03-1.57 and 'not stated' (OR 2.95; 95% CI: 2.02-4.30). CONCLUSION: CHL within UNHS was highly prevalent, with six clinical characteristics that can predict that likelihood of an infant being diagnosed with a CHL. This data could be used to create alternative care pathways for infants with CHL, enabling early and targeted assessments, thereby reducing the risk of developmental delays for these infants.

Fetal Bovine Collagen Grafts for Repair of Tegmen Defects and Encephaloceles Via Middle Cranial Fossa Approach.

To evaluate the use of commercially available allogenic dural graft materials made of fetal bovine collagen, we present an analysis of our case series with use of autologous and allogenic graft materials. Patients who underwent surgical repair of a tegmen tympani defect associated with ipsilateral conductive hearing loss and cerebrospinal fluid (CSF) otorrhea using a middle cranial fossa (MCF) approach from 2004 to 2018 at Loyola University Medical Center were included. Resolution of CSF otorrhea, audiologic outcomes, facial nerve preservation, and surgical complications was analyzed. Thirty-three patients with an average age of 55.3 years (range: 21-78, standard deviation [SD]: 12.9) and body mass index of 34.4 (range: 22-51, SD: 7.4) underwent an MCF repair of a tegmen and dural defect. All patients presented with CSF otorrhea and conductive hearing loss ipsilateral to the defect. Repairs were made with combinations of allograft and autograft in 17 cases, allograft only in 15 cases, and autograft only in 5 cases. Improvement in hearing was noted in 33 cases, and resolution of CSF otorrhea was noted in 36 cases; one patient required repeat surgery which resolved CSF otorrhea. Three patients had minor complications; all these were in the autograft group. The MCF approach coupled with the use of fetal bovine collagen grafts is a safe and viable method to repair tegmen tympani and associated dural defects with salutary outcomes and low morbidity.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Craniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early-onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T>C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T>G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. (c) 2010 Wiley-Liss, Inc.

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.

We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

The Role of Body Mass Index on Hearing Outcomes After Stapes Surgery.

BACKGROUND: Increased body mass index (BMI) has been associated with postoperative complications in multiple surgical specialties. In otologic surgery involving the stapes, where appropriate patient positioning and surgical dexterity are necessary for proper prosthesis placement, patients with higher BMI could make surgery more challenging. The purpose of this study is to evaluate the impact of BMI on outcomes after stapes surgery. METHODS: Medical records were examined from January 2015 to December 2017 in patients undergoing stapedectomy or stapedotomy at two tertiary care facilities. A retrospective cohort analysis comparing hearing outcomes on postoperative audiogram following procedural intervention with BMI was performed. The primary outcome was postoperative air-bone gap (dB) on audiogram. RESULTS: Two hundred sixty three stapedotomy and stapedectomy patients were included in the study. Six percent had BMI less than 18.5 (underweight), 30% had BMI between 18.6 and 24.9 (normal weight), 38% had BMI between 25 and 29.9 (overweight), 24% had BMI above 30 (obese). The mean preoperative and postoperative air-bone gap (ABG) was 27.0 dB (standard deviation [SD] 15) and 10.4 dB (SD 10.6), respectively, with a postoperative ABG less than or equal to 20 dB in 87% of cases. There were no significant differences in postoperative ABG results when comparing the BMI categories (p = 0.11). CONCLUSIONS: Stapedotomy and stapedectomy are effective surgeries that can be performed by experienced surgeons with successful hearing improvement. While high BMI patients may be a challenge to position appropriately for their surgery, this does not translate to altered otologic outcomes for these patients.

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.

Mastocytosis refers to a heterogeneous group of rare disorders characterized by an abnormal accumulation of mast cells in one or more organ systems. Cutaneous mastocytosis (CM) is the most frequent form in children and is characterized by hyperpigmented macules or papules symmetrically distributed over the trunk, and less so over the limbs, neck, and scalp. Two published articles have reported on unrelated girls presenting with mastocytosis, microcephaly, hearing loss, and hypotonia. Based on the original observation, this disorder was defined as CM with short stature, conductive hearing loss, and microtia (OMIM 248910). Here we report on a girl with similar manifestations who corroborates the existence of this rare disorder. CM, microcephaly, microtia, and/or hearing loss are the minimal diagnostic criteria. All the known patients were sporadic, but parental consanguinity in the first case argues for a possible autosomal-recessive inheritance.

Vibrant Soundbridge middle ear implant in mixed hearing loss. Indications, techniques, results.

OBJECTIVES: The aim of this article is to illustrate the aetiologies of mixed hearing loss that can benefit from a Vibrant Soundbridge (VSB) middle ear implant, the techniques performed and the first results. MATERIALS AND METHOD: The authors report their experience of 13 implantations in mixed hearing loss due to otosclerosis, sequelae of chronic otitis media and congenital aural atresia. The VSB implant was implanted alone or in association with another middle ear surgical procedure, on the ossicular chain or on the round window membrane. RESULTS: The average auditory gain for all patients is 32 dB for pure tone thresholds, and 25 dB for speech recognition. It results from the addition of a gain on the conductive hearing loss by direct stimulation of the inner ear, to a gain on the sensorineural hearing loss by amplification. CONCLUSION: Middle ear implants are the only hearing aids affording a gain in both the conductive and sensorineural components of mixed hearing losses.

Otological findings among Nigerian children with sickle cell anaemia.

BACKGROUND/AIM: Various degrees of hearing loss have been associated with sickle cell anaemia, especially of the sensorineural type (SNHL). However, there is little information on hearing pattern among sickle cell children in Nigeria. This study is to determine the prevalence of sensorineural hearing loss (SNHL) among children with sickle cell anaemia (SCA). PATIENTS AND METHODS: Eighty (80) stable children aged 4-15 with Hbss attending the pediatric sickle cell clinic and also 60 control patients with HbAA, matched for age, sex at the pediatric general medical clinic of the University of Ilorin teaching hospital, Ilorin, Nigeria, all had prospective study of their pure tone audiological assessment (PTA) and tympanometric evaluations done over a year period. RESULTS: Their age range was 4-15 years with a mean of 9.4 for the Hbss and 9.7 for the control group. The male/female ratio was 1.3:1 and 1.5:1 for SCA and control subjects respectively. 25 subjects (50 ears) had abnormal audiograms among the SCA subjects and OME was the cause in 22 subjects and only three (3) had mild SNHL which was bilateral. However, in the control group 15 had abnormal audiograms and all were due to OME and none had SNHL. OME was bilateral in 19 subjects with SCA, two on the left and only one on the right. In the control group, 11 of the OME was bilateral and only four were on the left side. The prevalence of SNHL was 3.8% and OME was 27.5%. CONCLUSION: We have found a prevalence rate for SNHL of 3.8% for 80 subjects with HbSS, and all cases have been a mild bilateral high frequency SNHL. Our findings suggested that SNHL is uncommon in early childhood, specifically during the years of language acquisition and early schooling. This could mean an age dependant prevalence rate of SNHL among SCA patients. However, no difference in the incidence of OME among both groups which can lead to educational difficulties from the resultant speech and language defects.

Hearing loss in pediatric patients with isolated nonsyndromic sagittal synostosis.

OBJECTIVE: Recent studies have shown increased rates of speech, language, cognitive and behavioral abnormalities in patients with isolated nonsyndromic sagittal synostosis. Little is known regarding the prevalence and type of hearing abnormalities in children with craniosynotosis. This study characterizes hearing loss in pediatric patients with isolated nonsyndromic sagittal synostosis. METHODS: Retrospective chart review of isolated nonsyndromic sagittal synostosis patients in a pediatric craniofacial clinic to determine the prevalence, severity, and type of hearing loss. RESULTS: Fifteen of 57 patients with isolated nonsyndromic sagittal synostosis had hearing loss (26% with a 95% confidence interval of 14.9 to 37.7%). Twelve patients demonstrated a conductive loss and three an unspecified type of loss (no bone conduction thresholds were recorded for these patients). The prevalence of conductive hearing loss in our population was 21% with a 95% confidence interval of 10.4 to 31.6%. All cases of hearing loss were mild or moderate in severity. CONCLUSIONS: The most common hearing impairment in patients with isolated nonsyndromic sagittal synostosis is conductive hearing loss likely secondary to middle ear effusion. These patients do not appear to have a higher frequency of middle ear effusion and conductive hearing loss than the normal population of comparable age. We conclude that there is no evidence of increased risk of hearing loss in our study population. We infer that hearing loss does not play a causative role in the elevation of risk for speech, language, behavioral and cognitive impairments which these patients experience. Health care professionals are obligated to ensure that conductive loss from middle ear effusion does not exacerbate these impairments. This obligation can safely be performed by managing hearing loss in the INSS population similar to hearing loss in comparably aged normal children.

Fully implantable hearing device as a new treatment of conductive hearing loss in Franceschetti syndrome.

The objective is to investigate a new therapeutic option for treatment of conductive hearing loss in children with Franceschetti syndrome. A Carina fully implantable device with the MET V transducer for conductive applications was implanted in a 14-year-old male suffering from bilateral conductive hearing loss (mean PTA loss: 70 dB on the right ear and 64 dB on the left ear) secondary to Franceschetti (a.k.a Treacher Collins) syndrome with bilateral agenesis of external ear canal and ossicular malformation. Postoperative unaided PTA was unchanged by the surgical procedure. When the implant was activated, mean PTA was 29 dB improved on the implanted ear. The capacity of the Carina MET ossicular stimulator to provide appropriate gain relative to the degree of hearing loss indicates that the device may be a viable treatment for children with agenesis of external auditory canal and severe malformation of the middle ear. However, these initial results need to be furthered by: (1) additional studies including a greater number of patients to confirm these preliminary results and (2) a long-term follow-up must be carried out to detect possible long-term cochlear adverse effects, in particular on the basilar membrane.