Paediatric Audiology Services Research Articles

Preparing for Otoferlin gene therapy trials: A survey of NHS Paediatric Audiology and Cochlear Implant services on diagnosis and management of Auditory Neuropathy Spectrum Disorder

ObjectivesGene therapy for monogenic hearing loss is on the horizon. The first trials in patients with Auditory Neuropathy Spectrum Disorder (ANSD) due to pathogenic variants in the Otoferlin (OTOF) gene will open this year. In the UK, the new NHS Genomic Medicine Service (GMS) offers genetic testing in each child diagnosed with congenital or early onset sensorineural hearing loss. This survey study aims to map preexisting clinical pathways for the diagnosis and management of children with ANSD and identify opportunities for improvement in early identification of OTOF- related ANSD. MethodsA Google form with 24 questions in English covering the ANSD clinical pathway was developed with clinicians involved in the diagnosis and management ANSD. The survey was disseminated via email to all Lead clinicians of NHS Tertiary Paediatric Audiology and Cochlear Implant Services within the UK. ResultsData was received from 27 (34 %) NHS Tertiary Paediatric Audiology Services and 8 (n = 57 %) Paediatric Cochlear Implant Services. Services follow existing national guidance and provide multidisciplinary care with structured patient pathways for referral, diagnosis, and management of children with ANSD and multidisciplinary input throughout. Clinicians are aware of the genetic causes of ANSD and new processes for genetic testing, but do not uniformly refer children with ANSD for testing for OTOF pathogenic variants. As such, they had difficulty estimating numbers of children with OTOF pathogenic variants under their care. ConclusionThose results highlight the urgency of implementing hearing gene panel sequencing for all children with ANSD to provide opportunities for early diagnosis and candidacy for OTOF gene therapy trials.

Use of an autoinflation device does not lead to a clinically meaningful change in hearing thresholds in children with otitis media with effusion.

The objective of this study was to establish whether autoinflation was an effective intervention in a paediatric audiology service. This was a pragmatic retrospective study with historical controls using a paired availability design. The study took place at a single paediatric audiology service in England. All children seen in the clinic over a two-year period who were aged between 3 and 11 years and who had a type B tympanogram in at least one ear were included. The Otovent autoinflation device was available as a treatment option over the second year (Cohort B) but not the first (Cohort A). There were 976 children included in the study: Cohort A comprised 513 children, Cohort B comprised 463 children. The aims were to evaluate whether there was improvement in hearing thresholds following introduction of an autoinflation device, and whether there was a reduction in further audiology follow-ups, and in referrals to an ear, nose and throat specialist for consideration of ventilation tube insertion. There was a statistically significant improvement in hearing thresholds in Cohort B compared to Cohort A, however the improvements were clinically minimal with small effect sizes. There was no significant difference in improvement of tympanometry results between the two cohorts. Significantly more children in Cohort B (autoinflation group) were referred to an ear, nose and throat specialist after their second appointment compared to Cohort A. It was feasible to introduce autoinflation into the care pathway, however there was no evidence of clinically meaningful improved outcomes for patients.

Who misses the newborn hearing screening? Five years’ experience in Friuli-Venezia Giulia Region (Italy)

IntroductionPermanent hearing impairment is the most common sensory disorder in newborns. The Universal Newborn Hearing Screening (UNHS) is widely adopted as a cost-effective procedure to achieve early identification and treatment of congenital hearing impairment, with the final goal of an improved linguistic and cognitive outcome for hearing impaired children. The Italian Ministry of Health has recently comprised UNHS in the Essential Level of Health Assistance. Nevertheless, programs still vary both across and within Italian Regions in terms of coverage, testing, referral and tracking protocols. In Friuli-Venezia Giulia region the program for the early identification of newborn and childhood hearing impairment is operative since 2012. In order to minimize the lost to follow-up cases, UNHS and childhood hearing surveillance activities have been organized in close collaboration among birth centres, paediatric audiology services, territorial Family Paediatricians and the sole regional centre for paediatric hearing loss management. Material and methodsWe performed a five years’ retrospective analysis of the UNHS experience in Friuli-Venezia Giulia comparing the UNHS activity of year 2013 and year 2017. The focus of the study concerns the “missing” cases. Three different typologies of “miss” cases (“documentation-miss”, “access-miss” and “pathway-miss”) have been defined in correspondence with main reasons for their occurrence. ResultsBirths in Friuli-Venezia Giulia were 9465 and 8432, respectively in 2013 and 2017. International quality indicators improved with a gain of efficiency in 5 years’ experience. However, “missing” cases were 486 in 2013 and 321 in 2017, mainly due to the lack of an efficient documentation system. ConclusionUNHS programs have proven to be valuable and cost-effective in Friuli-Venezia Giulia and other Italian regions. New resources and efforts are required to achieve a complete standardization and informatisation of the UNHS data to avoid documentation gaps. A possible strategy would point to the opportunity to unify data management systems for all the ongoing newborn screening programs (metabolic, hearing and visual), linking the integrated IT system with the regional repository of current datasets.

Hyperacusis in children: The Edinburgh experience

ObjectivesThis study aimed to determine the factors associated with hyperacusis in children referred to an audiology-led paediatric hyperacusis clinic in a Paediatric tertiary centre. It also aimed to identify current management strategies in paediatric hyperacusis and their outcomes. MethodsRetrospective cohort study conducted by case note and AuditBase® review over a 5-year period (March 2010 to March 2015) in a tertiary Paediatric ENT and Audiology service. Results412 children were referred with hyperacusis during the 5-year period. All children were assessed and managed within a dedicated Paediatric hyperacusis clinic. Median age at referral was 7 years. 76% were boys (n = 313). On average, children were sensitive to 6 identifiable sound stimuli at presentation (range 1–20). 82% complained of sensitivity to noise from household appliances and hand dryers. 60% had a background history of autistic spectrum disorder (ASD), followed by attention deficit hyperactivity disorder (ADHD) and other neurodevelopmental problems. In 91% management comprised behavioural therapy and provision of a ‘sound-ball’ (Wellcare® Naturcare Relaxation Therapy Ball) to take home. Of these, 25% did not attend their first review appointment. A further 25% were considered to have sufficient symptom improvement to permit discharge after a single clinic review. Only 2% of children required more than 3 review sessions before achieving resolution of symptoms. ConclusionsIn our paediatric cohort, hyperacusis is more common in boys and in those children with ASD. A combined treatment approach with behavioural therapy and the provision of a sound-ball has a very high success rate in our experience.

Hyperacusis in children: A clinical profile

ObjectiveHyperacusis is commonly seen in clinical paediatric practice and can be distressing for the children and their families. This paper looks at the clinical profile of children seen for hyperacusis in a paediatric audiology service and reviews the possible underlying mechanisms. MethodsRetrospective study of case notes of 61 children with troublesome hyperacusis seen in the paediatric audiology service, looking at their clinical presentation and presence of other medical conditions. ResultsHyperacusis was the main presenting complaint in more than half of the cases (n = 31, 51%). The commonest age at presentation with this problem was 3–4 years (n = 33, 54%).Hearing was normal in the majority of these children (n = 41, 67%). An active middle ear problem was observed in nearly half (n = 29, 48%) of all the children, of which glue ear (otitis media with effusion, OME) was the commonest. Presence of a neurodevelopmental condition was found in almost half (n = 28, 46%) of these patients of which autistic spectrum disorder was the commonest (8/61, 13%). In nearly one-fourth of the children (23%), presence of both middle ear problems and neurodevelopmental was noted. Tinnitus was an accompanying symptom reported in 11% of all the patients. ConclusionHyperacusis may commonly present at a very young age. Awareness of different clinical presentations, presence of other medical conditions and possible underlying pathomechanisms in children with hyperacusis can be helpful for clinicians in informing prognosis, counselling and in individualising management plan.

Diagnostic hearing testing of infants aged 0–36 months in 3 South African provinces – Comparison of audiology records to HPCSA guidelines

IntroductionWithin the Early Hearing Detection and Intervention (EHDI) pathway, which includes the processes of screening, diagnosis and intervention for paediatric hearing loss, paediatric diagnostic audiology involves a battery of specific tests and procedures. International studies have highlighted a golden standard for diagnosis of paediatric hearing loss as based on the Joint Committee of Infant Hearing (2007) diagnostic guidelines, closely resembling the HPCSA diagnostic guidelines. There are limited South African studies on the processes and protocols followed in diagnostic paediatric audiology. ObjectivesThis study aims to provide a comparison for how the tests used for diagnosis of paediatric hearing loss in South Africa (within both the public and private healthcare sectors) compare to the HPCSA recommended diagnostic guidelines. MethodsA retrospective record review of paediatric clients with hearing loss (recruited through nonprobability convenience sampling) was conducted. This study is part of a longitudinal study of 711 deaf or hard of hearing children referred to the HI HOPES early intervention programme from September 2006 to December 2011. Diagnostic data from audiology reports of 117 children between 0 and 36 months were coded and analysed. ResultsLarge variation was found in the tests included in the diagnostic audiology reports. For 22 children (19%) a comprehensive test battery was used. Health Professions Council of South Africa (HPCSA) recommended guidelines for diagnostic testing were not followed in any of the records analysed. Components of the HPCSA recommended test battery most frequently omitted was bone conduction testing. For both electrophysiology and behavioural testing, there was limited frequency specificity information. This exclusion of information is evidence of deficiencies in data recording and management, as well as having an effect on accuracy of classification of degree and type of hearing loss. ConclusionThere are gaps in age-appropriate assessment protocols, which will have an effect on accurate differential diagnosis of paediatric hearing loss. Reasons for not including all testing components of the HPCSA recommended guidelines, as well as the possibility of developing guidelines more relevant to a developing world context, should be explored. There might be a need for. The impact of South African specific factors that have an effect on provision of accurate paediatric diagnostic audiology services should be determined.

School hearing screening programme in the UK: practice and performance

Background: Paediatric audiology services and screening programmes are currently under review. Aims and Methods: To investigate current practice and performance of the school hearing screening programme (SHSP) by means of...

Readiness of paediatric audiology services for newborn hearing screening: findings and implications from the programme in England

As well as evaluating the newborn hearing screen itself, the government-funded evaluation of the implementation of a Newborn Hearing Screening Programme (NHSP) in England is assessing the impact of the screen on follow-up services. In the UK context, these are principally paediatric audiology, education, and social services. This article presents results from a mixed method research study involving paediatric audiology services specifically. Results demonstrate significant variety in current practice with regard to routine tests and procedures, considerable variability in number of current referrals and time allocated to caseloads, and considerable variability in expectations of how the numbers will change following newborn screening implementation. The challenges of and opportunities afforded by NHSP which were identified by respondents, highlight the urgent need for further training. The study has implications for paediatric audiology services that are yet to start NHSP in the UK, as well as for services and professionals in other countries.SumarioAdemás de evaluar la propia prueba de identificación auditiva en recién nacidos, la evaluación financiada por el gobierno del Programa de Tamizaje Auditivo en Recién Nacidos (NHSP) en Inglaterra está valorando el impacto del procedimiento de identificación sobre los servicios de seguimiento. En el contexto del Reino Unido (U.K.), estos son: audiología pediátrica, servicios de educación y servicios sociales. Este artículo presenta los resultados de un estudio de investigación de metodología mixta, que involucra, específicamente, a los servicios de audiología pediátrica. Los resultados demuestran una variedad significativa en la práctica clínica actual en relación con las pruebas y procedimientos rutinarios, una considerable variabilidad en el número actual de referencias y el tiempo requerido para los casos, así como una considerable variabilidad en las expectativas de cómo cambiarán las cifras posteriormente a la implementación del tamiz neonatal. Los retos y las oportunidades ofrecidas por el NHSP identificadas por los encuestados, destacan la urgente necesidad de entrenamiento adicional. El estudio tiene implicaciones para los servicios de audiología pediátrica que aún no han iniciado el NHSP en el UK, así como para servicios y profesionales en otros países.

Readiness of paediatric audiology services for newborn hearing screening: findings and implications from the programme in England

Readiness of paediatric audiology services for newborn hearing screening: findings and implications from the programme in England

The relationship between audit, research and policy: lessons from a community paediatric audiology service.

The pace of medical change is in danger of paralysing the process of decision making, particularly in services where clinical improvements occur more slowly than the introduction of new interventions. Audit within an individual district enables staff to monitor progress towards desired goals and standards but rarely generates sufficient data to inform decision making about major policy changes. The paper describes how the findings from nine audits of a community paediatric audiology service over a 13-year period were combined with reviews of the literature, resulting in a series of changes to a children's audiological service. The interest and commitment of all the staff involved were maintained by involving them in the process and using them as a valuable source of qualitative data. Audit must be thorough and should be based on precise case definition and comprehensive casefinding if the results are to be meaningful. It is a more powerful means of achieving improvements in systems if it is combined with research evidence, and a readiness to change the system if the agreed goals are not being attained.

Staffing and structure for paediatric audiology services in hospital and community units : Haggard M.P. and Pullan C.R.Br. J. Audiol. (1989) 23/2 (99–116)

The purpose of this paper was to develop a model for preparing professional audiology personnel in a developing country (Nigeria). Professional audiologists in Nigeria are expected to provide basic and advanced audiologic services in hospitals, special schools for the hearing-impaired and to develop, conduct or supervise hearing conservation programs in regular school settings, industries as well as local government health centers. The competencies expected of students upon completing their professional programs are presented in the form of ‘training modules’ vis-a-vis basic science, medical educational, hearing conservation, aural rehabilitation and clinical practicum. Training implications of the modules are discussed with regards to the promise they hold for the preparation of audiology personnel particularly in developing countries.

Staffing and structure for paediatric audiology services in hospital and community units.

The component functions of a paediatric audiology service are outlined on the basis of the main broad categories of patient and their requirements, as seen from a 'good practice' standpoint; a service structure is offered in terms of patient flow. This leads to a distinction between the small, specifically medical requirement, and the large, specifically audiological testing requirement. Indications are given of the scale of audiology requiring to be done by community staff not specializing in audiology. Notional incidence figures (and acceptable screen failure rates) allow the number of audiological posts or sessions required for screening and related community paediatric audiology work to be estimated per million population served. This totals about 9.75 FTE professional posts of varying grades per million population plus 1.5 FTE support, but in nearly all circumstances there will be many more incumbents than this, each with diverse other duties. The recommended staffing of audiologists doing hospital-based assessment and rehabilitation work and requiring specialized audiology training totals about 7.0 full-time equivalent (FTE) audiology posts and 2.5 support posts in a hospital paediatric audiology department, per million population; this is above the currently prevailing level of provision. The resource requirements would be raised by the widespread introduction of a non-standard screen (other than for the standard 6 to 9 month screen and the school-entry screen) by about 40% for community services and 15% for consequential increases in hospital services. In hospital units, the staffing will usually be interleaved with that of adult audiology, even where the served population may be large enough (e.g. 0.5 million, three to four paediatric audiology staff) to make a separate section worthwhile. In community units, there does not appear to be a particularly good rationale for community doctors specializing full-time in audiology, although some medical staff time is needed to undertake the specifically medical components. A partial degree of specialization among health visitors (or at least greater audiological training and experience) would probably achieve better performance of screens and simplify the attainment and maintenance of testing standards. Activities in hospital and community units have strong mutual implications: adding an intermediate-age screen to the established first-year and school-entry screens, and adding an at-risk neonatal screen would together increase consequent demands upon hospital paediatric audiology about 35%, although in neither case would the screening activity itself be undertaken in the hospital audiology unit.(ABSTRACT TRUNCATED AT 400 WORDS)