On the basis of strong research, universal newborn screening should be performed before age 1 month with repeat or follow-up testing for those who do not pass performed before age 3 months and intervention started before age 6 months. On the basis of strong research and consensus statement, tympanostomy tubes should be considered for individuals with bilateral persistent middle ear effusion for 3 months or greater and a documented conductive hearing loss. On the basis of consensus statement, all children with suspected hearing loss should have an age appropriate hearing test. On the basis of strong research, the most common form of congenital hearing loss is genetic. Most of this is nonsyndromic hearing loss.
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http://dx.doi.org/10.1542/pir.35-11-456 | DOI Listing |
FASEB J
January 2025
Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe, Japan.
DFNA1 (deafness, nonsyndromic autosomal dominant 1), initially identified as nonsyndromic sensorineural hearing loss, has been associated with an additional symptom: macrothrombocytopenia. However, the timing of the onset of hearing loss (HL) and thrombocytopenia has not been investigated, leaving it unclear which occurs earlier. Here, we generated a knock-in (KI) DFNA1 mouse model, diaphanous-related formin 1 (DIA1), in which Aequorea coerulescens green fluorescent protein (AcGFP)-tagged human DIA1(p.
View Article and Find Full Text PDFMov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
View Article and Find Full Text PDFTher Adv Ophthalmol
January 2025
Department of Ophthalmology, Zealand University Hospital, Roskilde, Denmark.
Background: Age-related macular degeneration (AMD) is a prevalent cause of irreversible vision loss among the elderly. The prevalence and detailed characteristics of Charles Bonnet syndrome (CBS) remain largely unexplored in patients with geographic atrophy (GA) secondary to AMD.
Objectives: To investigate the prevalence and characteristics of CBS in patients with GA secondary to AMD.
Cureus
December 2024
Ear Nose and Throat, Bahrain Defense Force Hospital, Royal Medical Services, Manama, BHR.
Objective: The aim of this study was to assess hearing level of preschoolers with delayed speech in order to detect any underlying hearing loss Methods: In this research we targeted preschool children with speech delay, who have not been previously diagnosed with any medical or psychological illnesses. A total of 54 preschool speech-delayed children were audiologically assessed in our clinic in the past year. The age at time of referral ranged from two to 7.
View Article and Find Full Text PDFNatl J Maxillofac Surg
November 2024
Department of ENT, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala, India.
Background And Objectives: Serous otitis media (SOM), also called otitis media with effusion (OME) or glue ear, is a collection of non-purulent fluid within the middle ear space. Children with cleft palate are more prone to develop this condition. This is caused by impaired eustachian tube function in cleft palate.
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