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Last Posted: Jun 06, 2024
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Rethinking non-syndromic hearing loss and its mimics in the genomic era
B Vona, EJHG, March 6, 2024

From the article: "The sense of hearing plays a crucial role in everyday life, from influencing speech and language development in early childhood to reducing risk of social isolation, depression and cognitive decline in the elderly. The causes of hearing loss are numerous, although genetic causes are thought to be implicated in up to 80% of congenital diagnoses (reviewed in ref. [1]). The remarkable complexity of the auditory system is mirrored in its extensive genetic heterogeneity, with deleterious variants in hundreds of genes already associated with hearing loss and many more awaiting discovery. "

Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study
A Paul et al, IJNS, February 2024

From the abstract: "We studied infants referred for diagnosis after screening between January 2018 and December 2021. Their medical history and neonatal hearing risk factors were assessed. Associations between factors were also analyzed. Sixty-six infants were included. A family history of deafness (47%), syndromic deafness (41%), intrauterine growth retardation or prematurity (19.7%), and prolonged NICU admission (18%) were the most observed factors. When analyzing according to these associations, family history of deafness and syndromic cases remained the most prevalent factors (74%), while only five cases (7.8%) presented with other neonatal risk factors only. The majority of congenital hearing loss cases are observed in infants with suspected genetic deafness. "

Deaf boy can now hear after breakthrough gene treatment
Medical XPress, January 23, 2024

From the article: " Gene therapy for hearing loss is something that we physicians and scientists in the world of hearing loss have been working toward for over 20 years, and it is finally here. While the gene therapy we performed in our patient was to correct an abnormality in one, very rare gene, these studies may open the door for future use for some of the over 150 other genes that cause childhood hearing loss."

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023

From the abstract: "Clear understanding of mental health phenotypes and associated socioeconomic, physical health and wellbeing impacts in adult women with an FMR1 premutation (PM) is needed for counselling and primary healthcare. This is a survey of 137 participants. Depression was found in ~30% and social anxiety in ~38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome (IBS) and self-reported hearing loss symptoms."

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.