Results 111 to 120 of about 71,647 (266)

Temperament in Toddlers With and Without Prelingual Hearing Loss

Purpose: The purpose of this study is to examine parent-reported ratings of temperament in toddlers with and without prelingual hearing loss. Method: The parent-completed Early Childhood Behavior Questionnaire (ECBQ) was used to assess temperament in ...
Castellanos, Irina, Houston, Derek M.
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Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Parent's guide to genetics and hearing loss

About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby\u2019s genes) or non-genetic (such as certain infections the mother has during pregnancy, or ...

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35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Sudden sensorineural hearing loss

, 2019
Sudden sensorineural hearing loss (SSNHL), is an important otological disorder that affects up to 5-20 in 100,000 people. It is characterized by a rapid loss of the hearing, usually unilateral, with a sensorineural hearing loss greater than 30 dB over ...
Lorusso F., Giustino V., Martines F., Rizzo S., Salvago P.   +4 more
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Stronger Futures in the Northern Territory: hearing health services 2012-2013 [PDF]

, 2014
Summary: This report presents data on the hearing health services delivered under the National Partnership Agreement on Stronger Futures in the Northern Territory (SFNT) during 2012-13.

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Enhancing Parent-Child Communication and Parental Self-Esteem With a Video-Feedback Intervention: Outcomes With Prelingual Deaf and Hard-of-Hearing Children

, 2015
Evidence on best practice for optimizing communication with prelingual deaf and hard-of-hearing (DHH) children is lacking. This study examined the effect of a family-focused psychosocial video intervention program on parent–child communication in the ...
James, Deborah M., James, Deborah, Lam-Cassettari, Christa, Lam-Cassettari, Christa (R17152), Wadnerkar, Meghana, Kamble, Meghana, Wadnerkar-Kamble, Meghana B.   +6 more
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Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand

Scientific Reports
Prelingual sensorineural hearing loss (SNHL) represents about 80% of genetic SNHL, with at least 90 causative genes identified. In order to identify the genetic diagnosis of prelingual SNHL, we performed a prospective study by systematic history-taking ...
Tasyakorn Damrongchietanon, Duangrurdee Wattanasirichaigoon, Arthaporn Khongkraparn, Saisuda Noojarern, Rattinan Tiravanitchakul, Nittaya Kasemkosin, Sivaporn Kiatthanabumrung, Thipwimol Tim-Aroon, Parith Wongkittichote   +8 more
doaj   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

A third of over fifties with hearing loss could be undiagnosed

, 2020
Up to a-third of older adults with hearing loss in England could be undetected and untreated , according to a new study by University of Manchester researchers.
Tsimpida, Dialechti
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