Children who are deaf or hard of hearing (D/HH) are at high risk for permanent deficits in language acquisition and downstream effects such as poor academic performance, personal-social maladjustments, and emotional difficulties. Identification of children born D/HH through newborn hearing screening and subsequent timely early intervention can prevent or reduce many of these adverse consequences. Ongoing surveillance for changes in hearing thresholds after infancy is also important and should be accomplished by subjective assessment for signs of atypical hearing and with objective screening tests. Scheduled hearing screening may take place in the primary care setting, or via referral to an audiologist according to the Bright Futures/American Academy of Pediatrics "Recommendations for Preventive Pediatric Health Care" (also known as the periodicity schedule). This report covers hearing assessment beyond the newborn period, reviews risk factors for hearing level change, and provides guidance for providers of pediatric primary care on the assessment and care of children who are D/HH.
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http://dx.doi.org/10.1542/peds.2023-063288 | 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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