Congenital hearing loss has been commonly reported as a significant health problem. Lost to system (LTS) is a major challenge facing newborn hearing screening (NHS) programs. This retrospective cross-sectional descriptive study aimed to determine the referral and LTS rates after the two-stage NHS based on transient evoked otoacoustic emissions (TEOAEs) in two main hospitals in Riyadh, Saudi Arabia (SA). NHS was performed on newborns before hospital discharge. Newborns were only rescreened if NHS initially revealed a fail/refer outcome in one or both ears. Those who failed the first and second screenings or had risk factors were referred for auditory brainstem response (ABR) testing to confirm or exclude hearing loss. In total, 20,171 newborns (40,342 ears; 52% males; 48% females) were screened, of whom 19,498 (96.66%) passed the initial screening, while 673 (3.34%) failed. Of the 673 newborns, 235 (34.92%) were LTS, and 438 (65.08%) were rescreened, of whom 269 (61.42%) failed and were referred for a comprehensive audiological assessment to confirm the existence of hearing loss. The referral rate after the initial two-stage screening was equal to 1.33%. The lack of awareness of the importance of NHS among parents seems to be the major cause behind the LTS rate. The stakeholders have to work efficiently to reduce the LTS rate.
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http://dx.doi.org/10.3390/ijns6030050 | DOI Listing |
Hum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Tianjin Medical University, Tianjin, 300102, China.
Objective: This study aims to investigate the genetic link between psoriasis and sudden sensorineural hearing loss (SSNHL).
Methods: From a genetic standpoint, this study further highlighted the connection between psoriasis and SSNHL. Single nucleotide polymorphisms (SNPs) connected to SSNHL could be found using a genome-wide association study from the IEU OpenGWAS project website.
BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Audiovestibular Medicine, St George's Hospital, London, UK.
A toddler presented to audiovestibular medicine with mild bilateral, sensorineural hearing loss identified via the Newborn Hearing Screening Programme. This report focuses on the early clinical assessment and aetiological investigation which prompted testing for metabolic disease and highlights the parents' perspective. Early investigation led to a relatively early diagnosis of mucopolysaccharidosis (MPS) type IIIA: Sanfilippo disease which enabled the family to access a novel treatment option which otherwise would not have been possible.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Haematology, Mid Yorkshire Hospitals NHS Trust, Wakefield, UK
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