Aim: to assess the auditory abilities of children with non-progressive chronic encephalopathy (NPCE), independently of the presence or not of hearing loss, and of the etiology of the encephalopathy; to characterize the benefit of hearing aids in children with NPCE and hearing loss.
Method: neurologic, otorhinolaryngologic and auditory assessments. Application of the Parent's Evaluation of Aural/Oral Performance of Children (PEACH) protocol.
Results: out of the 46 assessed children, 22 (48%) presented no hearing loss and 24 (52%) presented some level of sensorineural hearing loss. Regarding the encephalopathy etiology, most of the participants presented ischemic hypoxic encephalopathy followed by infectious process and kernicterus. The results also indicate that 16 (35%) parents suspected that their child had hearing loss; out of this total, 56% had the hearing loss confirmed. Thirty parents (65%) did not have any hearing complaints about their children. For these children the auditory evaluation indicated that 50% presented some level of hearing loss. The PEACH protocol proved to be effective to assess the benefit of hearing aids.
Conclusion: the results indicate that over half of participants presented hearing loss. No correlation was observed between etiology and complaints of hearing loss. This means that it is not possible to predict hearing loss based on complaints. All children who presented hearing loss benefited from the use of hearing aids.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1590/s0104-56872009000300010 | 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
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!