scholarly journals The Importance of Early Genetic Diagnostics of Hearing Loss in Children

Medicina ◽  
2020 ◽  
Vol 56 (9) ◽  
pp. 471
Author(s):  
Nina Božanić Urbančič ◽  
Saba Battelino ◽  
Tine Tesovnik ◽  
Katarina Trebušak Podkrajšek
Keyword(s):  
Hearing Loss ◽  
Social Consequences ◽  
Genetic Diagnostics ◽  
Genetic Etiology ◽  
Sensory Deficits ◽  
Universal Newborn Hearing Screening ◽  
The Family ◽  
Newborn Hearing ◽  
Syndromic Hearing Loss ◽  
Generation Sequencing

Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) or have other organs affected as well (syndromic hearing loss). In around 60% of cases, congenital hearing loss has a genetic etiology, where disease-causing variants can change any component of the hearing pathway. Genetic testing is usually performed by sequencing. Sanger sequencing enables analysis of the limited number of genes strictly preselected according to the clinical presentation and the prevalence among the hearing loss patients. In contrast, next-generation sequencing allows broad analysis of the numerous genes related to hearing loss, exome, or the whole genome. Identification of the genetic etiology is possible, and it makes the foundation for the genetic counselling in the family. Furthermore, it enables the identification of the comorbidities that may need a referral for specialty care, allows early treatment, helps with identification of candidates for cochlear implant, appropriate aversive/protective management, and is the foundation for the development of novel therapeutic options.

scholarly journals Etiology of Prelingual Hearing Loss in the Universal Newborn Hearing Screening Era: A Scoping Review

2020 ◽  
Vol 163 (4) ◽  
pp. 662-670
Author(s):  
Ashley Satterfield-Nash ◽  
Ayesha Umrigar ◽  
Tatiana M. Lanzieri
Keyword(s):  
Hearing Loss ◽  
Newborn Hearing Screening ◽  
Congenital Hearing Loss ◽  
Cmv Infection ◽  
Genetic Etiology ◽  
Delayed Onset ◽  
Universal Newborn Hearing Screening ◽  
Congenital Cmv Infection ◽  
Newborn Hearing ◽  
Congenital Cmv

Objective To conduct a scoping review on etiologic investigation of prelingual hearing loss among children <2 years of age in the era of universal newborn hearing screening (UNHS). Data Sources PubMed, Embase, PsycInfo, CINAHL, and Cochrane Library databases. Review Methods We searched for articles published from January 1, 1998, to February 19, 2020. We reviewed studies that (1) included children identified with either congenital or delayed-onset hearing loss before 2 years of age among cohorts who had undergone UNHS and (2) investigated ≥1 etiologies of hearing loss. We defined hearing loss as congenital when confirmed after UNHS failure and as delayed onset when diagnosed after ≥1 assessments with normal hearing. Results Among 2069 unique citations, 115 studies met criteria for full-text assessment, and 20 met our inclusion criteria. Six studies tested children diagnosed with hearing loss for genetic etiology, 9 for congenital cytomegalovirus (CMV) infection, and 5 for both. Among 1787 children with congenital hearing loss and etiologic investigation, 933 (52.2%) were tested for genetic mutations and 1021 (57.1%) for congenital CMV infection. The proportion of congenital hearing loss cases attributable to genetic etiology ranged between 7.7% and 83.3% and to congenital CMV infection between 0.0% and 32.0%. Conclusion Data are lacking on the identification and etiology of delayed-onset hearing loss in children <2 years of age in the UNHS era. The proportion of congenital hearing loss cases attributable to genetic etiologies and congenital CMV infection appears to vary widely.

The impact of hearing loss

ORL ro ◽  
2016 ◽  
Vol 4 (1) ◽  
pp. 64-65
Author(s):  
Mădălina Georgescu ◽  
Violeta Necula ◽  
Sebastian Cozma
Keyword(s):  
Hearing Loss ◽  
Health Services ◽  
Hard Of Hearing ◽  
Hearing Impaired ◽  
Public Health Issue ◽  
Health Politics ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Impaired Person ◽  
The Impact

Hearing loss represents a frequently met sensorial handicap, which has a major and complex impact not only on the hearing-impaired person, but also on his family and society. The large number of hard-of-hearing persons justifies the acknowledgement of hearing loss as a public health issue, which oblige to appropriate health politics, to offer each hearing-impaired person health services like those in Europe. These can be obtained through: appropriate legislation for mandatory universal newborn hearing screening; national program for follow-up of hearing-impaired children up to school age; national register of hard-of-hearing persons; smooth access to rehabilitation methods; appropriate number of audiologists, trained for health services at European standards, trained through public programs of education in the field of audiology.  

Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen

2021 ◽  
pp. 1-9
Author(s):  
Philippa Horn ◽  
Carlie Driscoll ◽  
Jane Fitzgibbons ◽  
Rachael Beswick
Keyword(s):  
Hearing Loss ◽  
Trisomy 21 ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Craniofacial Abnormalities ◽  
Universal Newborn Hearing Screening ◽  
Increased Risk ◽  
Newborn Hearing ◽  
Pierre Robin ◽  
Early Diagnostic

Purpose The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of early hearing loss despite passing UNHS. To establish whether earlier diagnostic audiological assessment is warranted for all infants with a syndrome or CFA, regardless of screening outcome, this study compared audiological outcomes of those who passed UNHS and those who referred. Method A retrospective analysis was performed on infants with a syndrome or CFA born between July 1, 2012, and June 30, 2017 who participated in Queensland, Australia's state-wide UNHS program. Results Permanent childhood hearing loss (PCHL) yield was higher among infants who referred on newborn hearing screening (51.20%) than in those who passed. Nonetheless, 27.47% of infants who passed were subsequently diagnosed with hearing loss (4.45% PCHL, 23.02% transient conductive), but PCHL was generally milder in this cohort. After microtia/atresia, the most common PCHL etiologies were Trisomy 21, other syndromes, and cleft palate. Of the other syndromes, Pierre Robin sequence featured prominently among infants who passed the hearing screen and were subsequently diagnosed with PCHL, whereas there was a broader mix of other syndromes that caused PCHL in infants who referred on screening. Conclusion Children identified with a syndrome or CFA benefit from early diagnostic audiological assessment, regardless of their newborn hearing screening outcome.

scholarly journals First national results of the evaluation of the neonatal hearing loss screening programme in France

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
A Doncarli ◽  
H Tillaut ◽  
V Goulet
Keyword(s):  
Hearing Loss ◽  
Screening Programme ◽  
National Level ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Set Up ◽  
Bilateral Deafness

Abstract Background The French newborn hearing screening programme set up in 2014 aims to identify affected children as early as possible to allow appropriate care. Our goal was to evaluate the implementation of this programme at the national level. Methods The programme consist in a screening using a test (T1) and a retest (T2) in the maternity hospital in all newborns. In some region, a delayed test (T3) is performed afterwards in children for whom it was not possible to confirm normal hearing. Children suspected of deafness subsequently enter the diagnosis phase. We defined evaluation indicators after stakeholders consultation. We developed a web application to collect aggregated data on live births. We estimated the rate of coverage, refusal, children suspected of hearing loss at the end of the screening phase and the prevalence of bilateral deafness. Results In 2015, one year after the initiation of the programme, the coverage rate was already very high (88%) and even more so in 2016 (96%). Parental acceptance was very good (refusal: 0.1%). By the end of 2016, 19 out 27 regions had added a T3. The rate of suspicion of bilateral hearing loss was decreased by using a T3 (1.4% vs 0.9%). Bilateral deafness rate, estimated after a 2-years follow up, was 1.3‰ although it was estimated only on 51.5% of suspected children for whom diagnosis data had been transmitted. Conclusions The objective of a 90% coverage set by the French ministry of health has been met after 2 years of operation of the program. T3 appears useful in relieving diagnostic structures from false positives. Our estimated prevalence of bilateral deafness could be more accurate if data collection was improved but is consistent with prevalence reported in North America. Key messages The universal newborn hearing screening program has been successfully set up in France in terms of coverage. Future work should focus on improving the collection of follow up data to better characterise diagnosed children.

scholarly journals Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss

2020 ◽  
Vol 5 (3) ◽  
pp. 467-479 ◽  
Author(s):  
Malinda Butz ◽  
Amber McDonald ◽  
Patrick A Lundquist ◽  
Melanie Meyer ◽  
Sean Harrington ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Copy Number Variants ◽  
Analytical Sensitivity ◽  
Nonsyndromic Hearing Loss ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Small Indels ◽  
Syndromic Hearing Loss ◽  
Generation Sequencing

Abstract Background Deafness and hearing loss are common conditions that can be seen independently or as part of a syndrome and are often mediated by genetic causes. We sought to develop and validate a hereditary hearing loss panel (HHLP) to detect single nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs) in 166 genes related to nonsyndromic and syndromic hearing loss. Methods We developed a custom-capture next-generation sequencing (NGS) reagent to detect all coding regions, ±10 flanking bp, for the 166 genes related to nonsyndromic and syndromic hearing loss. Our validation consisted of testing 52 samples to establish accuracy, reproducibility, and analytical sensitivity. In addition to NGS, supplementary methods, including multiplex ligation-dependent probe amplification, long-range PCR, and Sanger sequencing, were used to ensure coverage of regions that had high complexity or homology. Results We observed 100% positive and negative percentage agreement for detection of SNVs (n = 362), small indels (1–22 bp, n = 25), and CNVs (gains, n = 8; losses, n = 17). Finally, we showed that this assay was able to detect variants with a variant allele frequency ≥20% for SNVs and indels and ≥30% to 35% for CNVs. Conclusions We validated an HHLP that detects SNVs, indels, and CNVs in 166 genes related to syndromic and nonsyndromic hearing loss. The results of this assay can be utilized to confirm a diagnosis of hearing loss and related syndromic disorders associated with known causal genes.

scholarly journals The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study

2014 ◽  
Vol 101 (1) ◽  
pp. 9-15 ◽  
Author(s):  
Hannah Pimperton ◽  
Hazel Blythe ◽  
Jana Kreppner ◽  
Merle Mahon ◽  
Janet L Peacock ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cohort Study ◽  
Reading Comprehension ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Z Scores

ObjectiveTo determine whether the benefits of universal newborn hearing screening (UNHS) seen at age 8 years persist through the second decade.DesignProspective cohort study of a population sample of children with permanent childhood hearing impairment (PCHI) followed up for 17 years since birth in periods with (or without) UNHS.SettingBirth cohort of 100 000 in southern England.Participants114 teenagers aged 13–19 years, 76 with PCHI and 38 with normal hearing. All had previously their reading assessed aged 6–10 years.InterventionsBirth in periods with and without UNHS; confirmation of PCHI before and after age 9 months.Main outcome measureReading comprehension ability. Regression modelling took account of severity of hearing loss, non-verbal ability, maternal education and main language.ResultsConfirmation of PCHI by age 9 months was associated with significantly higher mean z-scores for reading comprehension (adjusted mean difference 1.17, 95% CI 0.36 to 1.97) although birth during periods with UNHS was not (adjusted mean difference 0.15, 95% CI −0.75 to 1.06). The gap between the reading comprehension z-scores of teenagers with early compared with late confirmed PCHI had widened at an adjusted mean rate of 0.06 per year (95% CI −0.02 to 0.13) during the 9.2-year mean interval since the previous assessment.ConclusionsThe benefit to reading comprehension of confirmation of PCHI by age 9 months increases during the teenage years. This strengthens the case for UNHS programmes that lead to early confirmation of permanent hearing loss.Trial registration numberISRCTN03307358.

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