Objective: To analyze the confusing factors and clinical and audiological characteristics in infants failed in hearing screening.
Methods: Between August 2004 and January 2006, 166 infants (315 ears) with detailed birth record and hearing screening record were reviewed in the study. The age of this series ranged from 2 to 6 months. They were born in maternal and child health hospitals (MCH) in Guangzhou city and surrounding areas, and had hearing screened by otoacoustic emissions (OAE). However, they failed in the first and second hearing screening. The birth history, high-risk factors of hearing-impaired during newborn period and pregnancy history of subjects were fully detailed. Subjects were classified according to the age: 2 to 3 months old infants were considered as group 1, while 4 to 6 months old infants were considered as group 2. Auditory brainstem response (ABR), distortion product otoacoustic emissions (DPOAE) and acoustic immittance measurement were examined. Subjects with abnormal hearing-evaluation were retested during the following one to three months (before 6-month-old). The ABR results, DPOAE results and tympanic cavity pressure and static compliance value were compared between the two tests and then diagnosis was made.
Results: (1) Among the 166 cases, 34 (20.5%) cases were once suffered from hypercholesterolemia of newborn, and 10 cases (6.0%) had asphyxia and hypoxia history. (2) The proportion of presenting type B tympanogram in group 2 was higher than that of group 1 (chi2 = 26.22, P < 0.01). (3) The proportion of normal ABR in group 2 (37.2%) was significantly higher than that of in group 1 (23.4%, chi2 = 0.527, P < 0.05). Fifty-six percent of infants accepted twice ABR test had improving ABR results during the second test. (4) The proportion of normal DOPAE in group 2 (39.7%) was slightly lower than that of in group 1 (42.2%, chi2 = 0.14, P > 0.05). Among the infants who accepted twice DPOAE test, 32.0% had improving results in the second test. (5) Four cases (4 ears ) were diagnosed as auditory neuropathy.
Conclusions: Middle ear function and development of auditory system in infants may be confusing factors in hearing screening. The results of hearing screening should be interpreted appropriately.
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Heliyon
December 2024
Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
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Department of Audiology, All India Institute of Speech and Hearing, Mysuru, Karnataka, India.
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Neurology, King's College Hospital, Dubai, ARE.
Susac's syndrome is a rare inflammatory microangiopathy characterized by the triad of retinopathy, encephalopathy, and hearing loss. The syndrome causes recurrent microinfarcts in these organs, which in turn manifests with repeated attacks of visual field loss, hearing loss and tinnitus, and various brain syndromes. These often lead to the significant accumulation of disability over time, particularly if there is a delay or failure in diagnosis.
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Department of Otorhinolaryngology, the Affiliated Children Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants.
View Article and Find Full Text PDFZhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital, Gansu Provincial Central Hospital, Lanzhou730050, China Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou730050, China.
To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by biallelic variation. A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted.
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