The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
Deaf-Blind Disorders ; Diagnosis ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Western World

The incidence of hearing impairment in neonatal intensive care unit (NICU) was much higher than that of well-baby nursery. The incidence of the former was 2%-4%, whereas that of the latter was 0.1%-0.3%. Furthermore, the incidence of auditory neuropathy spectrum disorder, progressive and delayed hearing loss was also higher than those of other infants. Therefore, the newborn hearing screening program in NICU has become an important part of pediatric audiology. In this paper, we reviewed the previous studies and suggested the special procedure of hearing screening and following-up which based on the physiological and pathological characteristics of NICU in order to detect hearing impaired as early as possible.
Hearing Disorders ; diagnosis ; Hearing Tests ; Humans ; Incidence ; Infant, Newborn ; Intensive Care Units, Neonatal ; Neonatal Screening

hearing disorder. At clinical examination there are both temporomandibular joint(TMJ)pain,tenderness and left TMJ noise. We could find that if mouth was opened,external auditory canal impatented, and if closed, patented through otoscopy.We planned exploratory TMJ open surgery under clinical diagnosis of traumatic TMJ meniscus displacement and external auditory canal bony wall fracture. of under clinical diagnosis. During arthroplasty we found that posterior displaced meniscus pressured the fractured external auditory canal so we repositioned meniscus anteriorly.After arthroplasty,TMJ noise disappeared and hearing funtion recovered. We experienced hearing disorder due to TMJ meniscus posterior displacement, so we present a case report with literature review.]]>
Arthroplasty ; Diagnosis ; Ear Canal ; Hearing Disorders ; Hearing ; Humans ; Male ; Mouth ; Noise ; Temporomandibular Joint

OBJECTIVE: To explore the risk factors of the newborns who failed initial hearing screening by analysing the distortion production otoacoustic emission (DPOAE) results of 1021 newborns with potential risk factors of hearing loss. METHOD: All newborns, who were born in obstetrical department and admitted in the neonatal department of the Nanfang Hospital during June 2009 to January 2012 and underwent initial hearing screening, were included in this study. Their clinical data and DPOAE results were analyzed retrospectively in order to identify the risk factors for failure of initial hearing screening in infants; cases who failed the DPOAE test were followed up by telephone interviews. RESULT: (1) One hundred and thirty-seven cases (13.42%) of the 1021 newborns did not pass the hearing screening. 51 cases (5.00%) did not pass the test in both ears. Meanwhile, left ear in 47 cases (4.60%) and right ear in another 39 cases (3.82%) failed the test respectively. (2) Univariate analysis showed that 14 factors had significant influence on the hearing screening results, such as birth weight, small for gestational age, multiple pregnancy, gestational age, delivery mode, oligohydramnion, oxytocin, blood sugar level of newborn, Apgar scores at 1 min, exposed prenatally to glucocorticoid, maxillofacial deformity, hypoxic-ischemic encephalopathy, neonatal respiratory distress syndrome and neonatal asphyxia (P < 0.01). (3) Multivariate Logistic regression analysis suggested that birthweight less than 1500 g, multiple pregnancy, Apgar scores of 0-4 at 1 min, exposed prenatally to glucocorticoid and maxillofacial deformity were risk factors for failure of initial hearing screening (OR were 3.132, 1.808, 2.615, 1.827 and 12.174 respectively; 95% CI were 1.466-6.691, 1.120-2.917, 1.317-5.336, 1.130-2.953 and 1.986-74.632 respectively). (4) Results of telephone interviews revealed that Apgar scores of 0-4 at 1 min would be a risk factor of language development. CONCLUSION Birthweight less than 1500 g, multiple pregnancy, Apgar scores of 0-4 at 1 min, exposed prenatally to glucocorticoid and maxillofacial deformity are risk factors of failure of initial hearing screening among newborns with potential hearing loss. Monitoring of the hearing condition of the infants at risk should be strengthened.
Deafness ; diagnosis ; Female ; Hearing Disorders ; diagnosis ; Hearing Tests ; Humans ; Infant, Newborn ; Neonatal Screening ; Otoacoustic Emissions, Spontaneous ; Pregnancy ; Risk Factors

The prevalence of auditory neuropathy is not known, although the majority of cases are felt to lie within the population of neonatal intensive care unit graduates. We report three cases of auditory neuropathy, out of 211 children with sensorineural hearing loss, seen at our audiology clinic from April 1, 1999 to December 31, 2003. Two patients did not have a risk factor for hearing impairment. Screening policies based solely on transient evoked otoacoustic emissions testing will not detect auditory neuropathy effectively, and may falsely reassure parents and professionals unaware of this condition.
Auditory Pathways ; physiopathology ; Child ; Child, Preschool ; Cochlear Nerve ; physiopathology ; Hearing Disorders ; diagnosis ; Hearing Loss, Sensorineural ; diagnosis ; etiology ; Hearing Tests ; Humans ; Male ; Otoacoustic Emissions, Spontaneous ; Prevalence ; Risk Factors

OBJECTIVE: To identify the newborns who should receive hearing evaluation by hearing screening in high risk newborns; to find and confirm the high risk factors of hearing disorders in high risk newborns. METHOD: The first screening was performed by DPOAE. Newborns did not passed the first screening undertook second screening using DPOAE + ABR. and newborns did not passed the second screening received hearing evaluation. High risk factors of hearing loss were found by Logistic regression analysis. RESULT: Three hundred and twenty-seven cases were screened. The positive ratio in first screening was 37.0%. The positive ratio in second screening was 11.0%. Ten cases were diagnosed as hearing loss and the incidence of hearing loss was 3.39%. High risk factors of hearing loss were asphyxiation, very low born weight (<1,500 g) and head and neck abnormality. CONCLUSION (1) DPOAE combined with ABR is credible and feasible in hearing screening of high risk newborns. (2) High risk factors of hearing loss were asphyxiation, very low born weight (<1,500 g) and head and neck abnormality in this study.
Female ; Hearing Disorders ; diagnosis ; epidemiology ; prevention & control ; Hearing Loss ; diagnosis ; epidemiology ; prevention & control ; Hearing Tests ; Humans ; Incidence ; Infant, Newborn ; Male ; Neonatal Screening ; Risk Factors

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either the affected anatomic or functional lesion of hearing loss, or as conductive or sensorineural hearing loss (SNHL). Genetic factors account for about 50% of congenital SNHL, and are therefore the most common cause. Molecular genetics research has identified more than 100 genes related to hearing and hearing loss, and shown that the risk of hearing loss caused by non-genetic factor is modified by genetic susceptibility. About 30% of genetic hearing loss is syndromic related and has affected phenotypic markers in other organs that make it easier to correctly diagnose the etiology of the hearing loss. In some cases, hearing loss can precede the pathologies of other organs and in these cases, hearing loss acts as a predictor of the syndrome associated pathologies of other organs. Inheritance of nonsyndromic hearing loss follows common inheritance patterns such as autosomal dominant, autosomal recessive, sex chromosome related, and mitochondrial inheritances. The paucity of predominant phenotypes and ethnic specificity of the prevalence and types of mutations may hinder the genetic diagnosis in nonsyndromic hearing loss. However, progress in elucidating the causal mutations is going forward using stratified genetic diagnostic strategies of candidate genes identified by hearing phenotypes and patterns of inheritance.
Diagnosis ; Fibrinogen ; Genetic Predisposition to Disease ; Genetics ; Hearing ; Hearing Loss* ; Hearing Loss, Sensorineural ; Inheritance Patterns ; Molecular Biology ; Pathology ; Phenotype ; Prevalence ; Risk Factors ; Sensation Disorders ; Sensitivity and Specificity ; Sex Chromosomes ; Wills

OBJECTIVE: This study was designed for evaluating the clinical usefulness of the Korean Denver Developmental Screening Test II (KDDST II) for screening of speech-language delays, for evaluating the co-morbidity of psychiatric disorders and examining the prevalence of hearing impairment in speech-language delays. METHOD: Fifty eight preschoolers whose chief complaints fell into 'late talker', 'dysarticulation' or 'stuttering' performed KDDST II, speech-language evaluation and hearing screening. Psychiatric consultation was performed if the child had any behavioral or emotional red flags. RESULTS: More than 50% were classified as 'language delay only', 25.9% as 'language delay with speech disorder', 22.4% as 'phonological disorder only'. Eleven children (34.4%) with language delay were classified as 'global developmental delay'. Sensitivity of KDDST II as a screening tool of language delay was only 84.4%. Two cases of hearing impairment and 3 cases of complicated otitis media were detected by hearing screening. Seventeen children (29.3%) also had psychiatric disorders such as attention deficit hyperactive disorder, anxiety disorder, and autism spectrum disorder. CONCLUSION: Evaluation of whole spectrums of development and hearing screening were recommended in the children with speech-language delays. Psychiatric consultation should be also considered in a case of any behavioral or emotional concerns.
Anxiety Disorders ; Child ; Autism Spectrum Disorder ; Diagnosis* ; Hearing ; Hearing Loss ; Humans ; Language Development Disorders ; Language Development* ; Mass Screening ; Otitis Media ; Prevalence

Bilateral acoustic neurofibrornatosis or neurofibrornatosis-2 is characterized by bilateral acoustic neurornas and it is thought to be genetically distinct from the neurohbrornatosis-1. Also called von Recklinghausen's neurofibrornatosis. We report 2 patients with neurofibrornatosis-2. Who showed progressive bilateral hearing loss, unsteady gait and headache.Neuroirnaging studies revealed bilateral cerebellopontine angle rnasses and biopsies confirmed the diagnosis.
Acoustics ; Biopsy ; Cerebellopontine Angle ; Diagnosis ; Gait Disorders, Neurologic ; Hearing Loss, Bilateral ; Humans ; Neurofibromatoses*

Cerebral Palsy ; diagnosis ; etiology ; physiopathology ; Hearing Disorders ; etiology ; Humans ; Interleukin-6 ; analysis ; Prognosis ; Research Report