Literature DB >> 35353226

Genetic testing for pediatric hearing loss: no time to waste.

Margaret A Kenna1.   

Abstract

Since the discovery of the first human deafness gene a quarter of a century ago, our approach to clinical evaluation of children with hearing loss has changed dramatically. What was once a low-yield scattershot approach has changed to a clearly definable pathway involving genetic testing, imaging, and congenital cytomegalovirus testing. There still however is a great deal of work to be done to expand the correct use of this testing, particularly genetic testing.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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Year:  2022        PMID: 35353226     DOI: 10.1007/s00439-021-02333-9

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  10 in total

Review 1.  Newborn hearing screening--a silent revolution.

Authors:  Cynthia C Morton; Walter E Nance
Journal:  N Engl J Med       Date:  2006-05-18       Impact factor: 91.245

2.  A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing Screening.

Authors:  Karen B Fowler; Faye P McCollister; Diane L Sabo; Angela G Shoup; Kris E Owen; Julie L Woodruff; Edith Cox; Lisa S Mohamed; Daniel I Choo; Suresh B Boppana
Journal:  Pediatrics       Date:  2017-01-03       Impact factor: 7.124

3.  Systematic Review of Hearing Loss Genes in the African American Population.

Authors:  Cameron P Worden; Anita Jeyakumar
Journal:  Otol Neurotol       Date:  2019-06       Impact factor: 2.311

Review 4.  GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.

Authors:  Dylan K Chan; Kay W Chang
Journal:  Laryngoscope       Date:  2013-10-08       Impact factor: 3.325

5.  A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.

Authors:  A Eliot Shearer; Jun Shen; Sami Amr; Cynthia C Morton; Richard J Smith
Journal:  Genet Med       Date:  2019-06-07       Impact factor: 8.864

6.  Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic.

Authors:  A Boudewyns; Frank Declau; Jenneke van den Ende; Anouk Hofkens; Sara Dirckx; Paul Van de Heyning
Journal:  Eur J Pediatr       Date:  2016-05-24       Impact factor: 3.183

7.  Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening.

Authors:  Joseph Peterson; Carla Nishimura; Richard J H Smith
Journal:  Laryngoscope       Date:  2020-01-27       Impact factor: 3.325

Review 8.  International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient.

Authors:  Bryan J Liming; John Carter; Alan Cheng; Daniel Choo; John Curotta; Daniela Carvalho; John A Germiller; Stephen Hone; Margaret A Kenna; Natalie Loundon; Diego Preciado; Anne Schilder; Brian J Reilly; Stephane Roman; Julie Strychowsky; Jean-Michel Triglia; Nancy Young; Richard J H Smith
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2016-09-15       Impact factor: 1.675

9.  Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

Authors:  Lucia Ambrosio; Ronald M Hansen; Anne Moskowitz; Andrea Oza; Devon Barrett; Juliana Manganella; Genevieve Medina; Kosuke Kawai; Anne B Fulton; Margaret Kenna
Journal:  Doc Ophthalmol       Date:  2021-01-28       Impact factor: 2.379

10.  The etiological evaluation of sensorineural hearing loss in children.

Authors:  E A van Beeck Calkoen; M S D Engel; J M van de Kamp; H G Yntema; S T Goverts; M F Mulder; P Merkus; E F Hensen
Journal:  Eur J Pediatr       Date:  2019-05-31       Impact factor: 3.183

  10 in total

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