Universal newborn hearing screening

The present statement reviews the evidence for universal newborn hearing screening (UNHS). A systematic review of the literature was conducted using Medline and using search dates from 1996 to the third week of August 2009. The following search terms were used: neonatal screening AND hearing loss AND hearing disorders. The key phrase "universal newborn hearing screening" was also searched. The Cochrane Central Register of Controlled Trials and systematic reviews was searched. Three systematic reviews, one controlled non-randomized trial and multiple cohort studies were found. It was determined that there was satisfactory evidence to support UNHS. The results of the available literature are consistent and indicate clear evidence that without UNHS, delayed diagnosis leads to significant harm for children and their families; with UNHS, diagnosis and intervention occur earlier; earlier intervention translates to improved language outcomes; and in well-run programs, there is negligible harm from screening.     

Profound deafness and the acquisition of spoken language in children

Profound congenital sensorineural hearing loss (SNHL) is not so infrequent, affecting 1 to 2 of every 1000 newborns in western countries. Nevertheless, universal hearing screening programs have not been widely applied, although such programs are already established for metabolic diseases. The acquisition of spoken language is a time-dependent process, and some form linguistic input should be present before the first 6 mo of life for a child to become linguistically competent. Therefore, profoundly deaf children should be detected early, and referred timely for the process of auditory rehabilitation to be initiated. Hearing assessment methods should reflect the behavioural audiogram in an accurate manner. Additional disabilities also need to be taken into account. Profound congenital SNHL is managed by a multidisciplinary team. Affected infants should be bilaterally fitted with hearing aids, no later than 3 mo after birth. They should be monitored until the first year of age. If they are not progressing linguistically, cochlear implantation can be considered after thorough preoperative assessment. Prelingually deaf children develop significant speech perception and production abilities, and speech intelligibility over time, following cochlear implantation. Age at intervention and oral communication, are the most important determinants of outcomes. Realistic parental expectations are also essential. Cochlear implant programs deserve the strong support of community members, professional bodies, and political authorities in order to be successful, and maximize the future earnings of pediatric cochlear implantation for human societies.     

Implementation and results of bedside hearing screening with automated auditory brainstem response in the neonatal intensive care unit

Aim: To evaluate implementation and results of neonatal hearing screening with automated auditory brainstem response (AABR) by bedside nurses in a single‐centre neonatal intensive care unit (NICU). Methods: Retrospective review of charts of 2074 newborns admitted over a 4‐year period. Results: One thousand eight hundred and 24 newborns (88%) were screened. A ‘pass’ result was obtained in 1761 patients (96.5%). From 63 infants with ‘refer’, 40 were tested with auditory brainstem response: in 28 hearing loss was confirmed. Three hundred and nine neonates were screened before postmenstrual age (PMA) of 34 weeks: 78% successfully passed the first test. Sixty‐seven infants with ‘refer’ at the first test before PMA of 34 weeks were re‐evaluated: 48 had normal hearing tests, 24 of whom still younger than 34 weeks. For 12 of 19 infants with ‘refer’ before 34 weeks, follow‐up was available: in 7 hearing loss was confirmed. Conclusion: Neonatal hearing screening with AABR can be easily performed by the bedside nurse in the NICU even in premature babies before 34 weeks PMA. A ‘pass’ result can be obtained in almost 80% of them; a ‘refer’ result at that age, however, must be interpreted cautiously, as false ‘refer’ occurred in 5/12 of these infants.     

Risk factors for sensorineural hearing loss in survivors with severe congenital diaphragmatic hernia

Recent improvements in perinatal management have improved the prognosis in patients with severe congenital diaphragmatic hernia (CDH). However, in surviving patients with severe CDH, hearing loss has sometimes been reported to occur during the follow-up period. Although some of the risk factors for developing sensorineural hearing loss (SNHL) have been reported in CDH, no definitive risk factors have yet been reported. We, therefore, investigated the risk factors regarding postnatal management in patients with severe CDH. In 16 surviving patients with severe CDH, which had all been detected antenatally, and whose lung-to-thoracic ratio was less than 0.2, four patients demonstrated late onset SNHL, which occurred between 1.5 and 5 years of age. The risk factors for SNHL regarding the postnatal treatment for CDH were analyzed between the four patients with SNHL and the remaining 12 patients without SNHL, regarding such factors as the use of ototoxic drugs, neuromuscular blocking agents, high-frequency oscillation (HFO), and inhaled nitric oxide, the duration of hypocapnia, hypoxia, severe acidosis, severe alkalosis, and mechanical ventilation. In addition, the types of neuromuscular blocking agents were also analyzed, including the administration of pancuronium bromide (PB) and vecuronium bromide (VB). The patients with SNHL were found to have a significantly higher risk than the patients without SNHL regarding the duration of loop diuretics usage and the duration of usage of both mechanical ventilation and HFO. Furthermore, all four patients with SNHL used PB. In contrast, none of the five patients using VB developed SNHL The duration and cumulative dose of PB used in the patients with severe CDH showed a significant correlation to the occurrence of SNHL. Although this study was retrospective, based on our data, the prolonged use of PB, in addition to the duration of treatment by loop diuretics, mechanical ventilation, and HFO usage, might, thus, be suggested to be a possible risk factor for late onset SNHL in patients with severe CDH.     

Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel <Emphasis Type="Italic">PDS/SLC26A4</Emphasis> mutations

Pendred syndrome is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by mutations in the PDS/SLC26A4 gene (OMIM 605646) encoding for pendrin. Hypothyroidism in Pendred syndrome can be—although rarely—present from birth and therefore diagnosed by neonatal screening. The aim of our study was to identify patients with Pendred syndrome among a historical cohort of patients with congenital hypothyroidism (CH) identified by neonatal screening, and to find their mutations in the PDS/SLC26A4 gene. We investigated 197 Czech Caucasian children with CH detected by the neonatal screening between the years 1985 and 2005. The clinical diagnosis of Pendred syndrome was based on the laboratory and sonographic signs of thyroid dyshormonogenesis in association with sensorineural hearing loss. In subjects clinically diagnosed with Pendred syndrome, we sequenced all exons and exon-intron boundaries of the PDS/SLC26A4 gene. Hearing loss was present in 10/197 children with screening-detected CH. Of these, three fulfilled the diagnostic criteria of Pendred syndrome. Two patients were compound heterozygotes for PDS/SLC26A4 mutations: patient 1 carried c.2089+1G>A / c.3G>C and patient 2 carried p.Tyr530His / p.Val422Asp. Two of the four identified mutations were novel (c.3G>C in patient 1 and p.Val422Asp in patient 2). The third patient was free of mutations in the PDS/SLC26A4 gene, representing a phenocopy. In conclusion, our results indicate the rarity of Pendred syndrome as a cause of CH. The identification of two novel mutations expands the spectrum of mutations in the PDS/SLC26A4 gene and emphasizes their marked allelic heterogeneity. The study was supported by grants of the Czech Ministry of Education (MSM 0021620814) and Charles University in Prague (GAUK 2008/2007).     

Evaluation of the child with deafness or delayed speech

Key diagnostic features of deafness and partial hearing loss are reviewed, with respect to etiology, detection of hearing loss, language development, and management.     

Hearing Impairment in Connection with Preauricular Tags

ABSTRACT. Between 1977 and 1984, 230 newborns (5.4/1000 livebirths) were registered at the two maternity hospitals of Goteborg as having preauricular tags. Of these 188 were available for hearing assessment. In 10 children (5%) the tag was associated with other malformations of the ear/face region. All these children had hearing impairment (HI), 8 conductive, 1 sensorineural and 1 mixed. In 178 neonates the tag was the only defect. Of these, 23 (13%) were found to have HI, all sensorineural and of mild to moderate degree. In the total group of children a positive family history for HI was found in 29% and for malformation in 24%. In the children where HI was found (33 cases in total) the figures for heredity rose to 67% (HI) and 30% (malformation). In the 23 cases with ear tag and HI, a hereditary tendency for HI was found to be 78%. Accordingly there is a clearly elevated risk for HI in connection with ear tags and we therefore recommend routine hearing assessment in all children with preauricular tags.     

HDR Syndrome (Hypoparathyroidism,Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

Background

HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion.

Case Presentation

Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome.     

Ligurian experience on neonatal hearing screening: clinical and epidemiological aspects

AIM: Early identification and rehabilitation of newborns with congenital hearing impairment (HI) by Universal Neonatal Hearing Screening (UNHS). METHODS: The neonatal population was divided into two groups: babies with No Audiological Risk (NAR), and babies With Audiological Risk (WAR). NAR neonates underwent OAE testing, and in case of a doubtful (Refer) result, ABR testing was carried out. All WAR newborns underwent ABR testing within the third month of life. RESULTS: Between February 1, 2002 and December 31, 2004, UNHS was carried out on 32 502 newborns at the 13 regional birth centres, representing 98.7% of the whole regional neonatal population. The prevalence of HI in the population we tested was estimated at about 1 per thousand, while Bilateral Hearing Impairment (BHI) was estimated at 0.65 per thousand. A 3.7% prevalence of HI and a 2.8% prevalence of BHI was observed among the WAR population. Median age at the end of the diagnostic procedures was 6.7 months in the WAR population and 6.9 months in the NAR population. CONCLUSIONS: Our project is based on two levels of testing, which resulted in a 0.28% false-positive rate with 100% sensitivity and 99% specificity. Our screening is the first Italian experience that has been extended to a whole region and the results prove that regional neonatal hearing screening is feasible.     

Congenital cytomegalovirus infection - a common cause of hearing loss of unknown aetiology

Aim: The aim of this study was to investigate the role of congenital cytomegalovirus (CMV) infection as a cause of various types of sensorineural hearing loss (SNHL) in a group of nonsyndromic children with otherwise unknown aetiology of hearing loss. Furthermore, the occurrence of combined congenital CMV infection and connexin 26 (Cx26) mutations was investigated. Methods: The dried blood spot (DBS) cards of 45 children with various degrees of hearing deficits and 46 children with severe/profound hearing loss were tested for CMV DNA with polymerase chain reaction (PCR) technique. The DBS cards of the 46 children with severe/profound hearing loss were also analysed for Cx26 mutations. Results: Of the 45 children with various degrees of hearing loss, nine were positive for CMV DNA (20%). The nine children represented severe/profound, mild and unilateral hearing loss. From the 46 children with severe/profound hearing loss, nine of 46 (20%) were positive for CMV DNA. In addition, three of the CMV DNA‐positive children were carriers of mutations of Cx26. Conclusion: Congenital CMV infection is a high risk factor in hearing impairment among children.     

Prevalence and independent risk factors for hearing loss in NICU infants

AIM: To determine the prevalence and independent relationship between hearing loss and risk factors in a representative neonatal intensive care unit (NICU) population. METHODS: Automated auditory brainstem response (AABR) hearing screening has been introduced since 1998 in the Dutch NICUs. After a second AABR failure, diagnostic ABR was used to establish diagnosis of hearing loss. Newborns who died before the age of 3 months were excluded. In the present study only the NICU infants who were born with a gestational age <30 weeks and/or a birth weight <1000 g between October 1, 1998 and January 1, 2002 were included. Risk factors included in the study were familial hearing loss, in utero infections, craniofacial anomalies, birth weight <1500 g, hyperbilirubinemia, ototoxic medications, cerebral complications, severe birth asphyxia, assisted ventilation > or =5 days and syndromes. RESULTS: A nationwide cohort of 2186 newborns were included. Mean gestational age was 28.5 weeks (SD 1.6) and mean birth weight was 1039 g (SD 256). Prevalence of uni- or bilateral hearing loss was 3.2% (71/2186; 95% CI 2.6-4.1). Multivariate analysis revealed that the only independent risk factors for hearing loss were severe birth asphyxia (OR 1.7; 95% CI 1.0-2.7) and assisted ventilation > or =5 days (OR 3.6; 95% CI 2.1-6.0). CONCLUSION: The prevalence of hearing loss in a representative NICU population was 3.2%. Independent risk factors for hearing loss were severe birth asphyxia and assisted ventilation > or =5 days.     

Neonatal hearing screening

Severe congenital hearing impairment is an important handicap affecting 0.1% of live-born infants and 1%–2% of graduates of Neonatal Intensive Care Units. The prognosis for intellectual, emotional, language and speech development in the hearing-impaired child is improved when the diagnosis is made early and intervention is begun before the age of 6 months. The usual age at diagnosis of hearing impairment is at least 18–30 months (or even later in cases of less severe hearing impairment) where there are no screening programmes. When screening is carried out using distraction methods at the age of approximately 9 months some hearing-impaired infants are missed and those discovered are at least 15–18 months before intervention begins. Neonatal screening could give hearing-impaired children the best chances for optimal care and development. Universal neonatal hearing screening is necessary, because, when neonatal hearing screening is restricted to high risk groups 30%–50% of infants with hearing loss are not discovered. The methods available for neonatal hearing screening are discussed in this paper.Conclusion In our view automated measurement of auditory brainstem responses is the most valuable method for universal neonatal hearing screening.     

The Parkland Memorial Hospital experience in ensuring compliance with Universal Newborn Hearing Screening follow-up

OBJECTIVE: Reduce false-positive results and loss to follow-up through systematic modifications in Universal Newborn Hearing Screening at a large public hospital. STUDY DESIGN: During a pilot program, neonates who failed technician-performed automated auditory brain stem response were scheduled for diagnostic evaluation. In year 1, audiologists rescreened neonates who failed, and those who did not pass were screened as outpatients. For years 2 through 4, neonates who failed were rescreened by technicians before inpatient audiology rescreening. RESULTS: For the pilot, 3759 neonates were screened; 1% (n = 43) failed and 44% (n = 19) were lost to follow-up. In year 1, 15,297 neonates were screened and 2% (n = 365) failed; audiology rescreening reduced this to <1% (n = 129). Outpatient rescreening yielded 0.5% (n = 70) who failed; 17% (n = 12) were lost to follow-up. In year 2, 16,384 neonates were screened, 3% (n = 456) failed, and 1% (n = 167) failed after technician rescreen; audiology rescreening reduced inpatient fails to 0.6% (n = 108), and 0.4% (n = 61) failed outpatient rescreening; 11% (n = 7) were lost to follow-up. Results for years 3 and 4 were similar to year 2, with further reduction in loss to follow-up to 11% (n = 6) and 1.7% (n = 1). CONCLUSIONS: Successful Universal Newborn Hearing Screening with reduced false-positive results and loss to follow-up can be accomplished with a planned schedule of inpatient rescreens and outpatient rescreening at the birthing facility.