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Contributors
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Eda Kepenekli, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Marmara University, İstanbul, Türkiye
BilgeAldemir Kocabaş, MD Section of Pediatric Infectious Diseases, Antalya
Training and Research Hospital, University of Health Sciences, Antalya, Türkiye
Çiğdem Fırat Koca, MD Department of Otorhinolaryngology, Faculty of
Medicine, Malatya Turgut Özal University, Malatya, Türkiye
Gabriela Kopacheva-Barsova, MD, PhD Department of Otorhinolaryngology,
Faculty of Medicine, Cyril and Methodius University of Skopje, Skopje, Republic
of North Macedonia
MehtapKoparal, MD Section of Otorhinolaryngology, Adıyaman Training and
Research Hospital, Adıyaman, Türkiye
NurtenKüçük, MD Section of Otorhinolaryngology, Medical Park Bahçelievler
Hospital, İstanbul, Türkiye
PınarKundi, MD Section of Otorhinolaryngology, Başakşehir Çam and Sakura
City Hospital, İstanbul, Türkiye
StephanLang, MD Department of Otorhinolaryngology, Head and Neck Surgery,
University Hospital Essen, Essen, Germany
Fatma Levent, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, School of Medicine, Texas Tech University, Lubbock, TX, USA
Violeta Malinte, MD Department of Otorhinolaryngology, Head and Neck
Surgery, Sfanta Maria Hospital, Carol Davila University of Medicine and Pharmacy,
Bucharest, Romania
CemMeco, MD Department of Otorhinolaryngology, Faculty of Medicine, Ankara
University, Ankara, Türkiye
Department of Otorhinolaryngology-Head and Neck Surgery, Salzburg Paracelsus
Medical University, Salzburg, Austria
Mario Milkov, MD Department of Otorhinolaryngology, Faculty of Medicine,
Varna University, Varna, Bulgaria
FlorMunoz-Rivas, MD Division of Infectious Diseases, Department of Pediatrics,
Baylor College of Medicine, Houston, TX, USA
Infectious Disease Service, Texas Children’s Hospital, Houston, TX, USA
HeshamNegm, MD Department of Otorhinolaryngology, Faculty of Medicine,
Cairo University, Cairo, Egypt
Daniel E. Noyola, MD Department of Microbiology, Faculty of Medicine, and
Research Center for Health Sciences and Biomedicine, Autonomous University of
San Luis Potosí, San Luis Potosí, Mexico
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Contributors
Eda Karadağ Öncel, MD Section of Pediatric Infectious Diseases, Tepecik
Training and Research Hospital, University of Health Sciences, İzmir, Türkiye
Ustun Osma, MD Department of Otorhinolaryngology, Faculty of Medicine,
Akdeniz University, Antalya, Türkiye
Metehan Özen, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Acıbadem University, İstanbul, Türkiye
FatmaNurÖz, MD Section of Pediatric Infectious Diseases, Ankara Etlik City
Hospital, University of Health Sciences, Ankara, Türkiye
YaseminÖzsürekçi, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye
KübraÖztürk, MD Section of Pediatric Rheumatology, Göztepe Research and
Training City Hospital, Medeniyet University, İstanbul, Türkiye
DesiderioPassali, MD International Federation Oto-Rhino-Laryngological (ORL)
Societies (IFOS), Rome, Italy
Francesco Maria Passali, MD, PhD Department of Clinical Sciences and
Translational Medicine, University Tor Vergata, Rome, Italy
Giulio Cesare Passali, MD Department of Otorhinolaryngology, Università
Cattolica del Sacro Cuore School of Medicine, Fondazione Policlinico Universitario
A.Gemelli IRCCS, Rome, Italy
Kevin A. Peng, MD House Clinic and House Institute Foundation, Los
Angeles, CA, USA
Meltem Polat, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Gazi University, Ankara, Türkiye
EmmanuelP.Prokopakis, MD Department of Otorhinolaryngology, School of
Medicine, University of Crete, Crete, Greece
AliSeyedResuli, MD Department of Otorhinolaryngology, Faculty of Medicine,
İstanbul Yeni Yüzyıl University, İstanbul, Türkiye
Chae-SeoRhee, MD, PhD Department of Otorhinolaryngology, Head and Neck
Surgery, College of Medicine, Seoul National University, Seoul, Korea
Ryan Henry Rochat, MD Division of Infectious Diseases, Department of
Pediatrics, Baylor College of Medicine, Houston, TX, USA
Department of Education, Innovation, and Technology, Baylor College of Medicine,
Houston, TX, USA
Infectious Disease Service, Texas Children’s Hospital, Houston, TX, USA
VishakhaSabharwal, MD Division of Pediatric Infectious Diseases, Department
of Pediatrics, School of Medicine, Boston University, Boston, MA, USA
Section of Pediatric Infectious Diseases, Boston Medical Center, Boston, MA, USA
Contributors
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xxiii
SuelaSallavaci, MD, MSc, PhD Department of Otorhinolaryngology, University
Hospital Centre “Mother Teresa”, Tirana, Albania
CodrutSarafoleanu, MD Department of Otorhinolaryngology, Head and Neck
Surgery, Sfanta Maria Hospital, Carol Davila University of Medicine and Pharmacy,
Bucharest, Romania
Neslihan Sarı, MD Department of Otorhinolaryngology, Faculty of Medicine,
Mardin Artuklu University, Mardin, Türkiye
BertSchmelzer, MD Section of Otorhinolaryngology, Head and Neck Surgery,
Ziekenhuis Netwerk Antwerpen (ZNA), Antwerpen, Belgium
AsifSelimoğlu, MD Section of Otorhinolaryngology, Çankaya Yaşam Hospital,
Ankara, Türkiye
BilalSizer, MD Section of Otorhinolaryngology, Memorial Diyarbakır Hospital,
Diyarbakır, Türkiye
HazeEmineSönmez, MD Division of Pediatric Rheumatology, Department of
Pediatrics, Faculty of Medicine, Kocaeli University, Kocaeli, Türkiye
AhmetSoysal, MD Section of Pediatric Infectious Diseases, Memorial Ataşehir
Hospital, İstanbul, Türkiye
JeffreyR.Starke, MD Division of Infectious Diseases, Department of Pediatrics,
Baylor College of Medicine, and Infectious Disease Service, Texas Children’s
Hospital, Houston, TX, USA
Grant T. Stimes, PharmD, BCPS, BCIDP Clinical Pharmacy Unit, Texas
Children’s Hospital, Houston, TX, USA
Nihat Susaman, MD Section of Otorhinolaryngology, Elazığ Fethi Sekin City
Hospital, Elazığ, Türkiye
Tina Q. Tan, MD Department of Pediatrics, Feinberg School of Medicine,
Northwestern University, Chicago, IL, USA
Division of Infectious Diseases, Ann and Robert H. Lurie Children’s Hospital of
Chicago, Chicago, IL, USA
TürkanAydınTeke, MD Section of Pediatric Infectious Diseases, Dr. Sami Ulus
Maternity Child Health and Diseases Training and Research Hospital,
Ankara, Türkiye
Tobias Tenenbaum, MD Clinic for Pediatrics and Adolescent Medicine, Sana
Klinikum Lichtenberg, Academic Teaching Hospital Charité, Berlin, Germany
Mümtaz Taner Torun, MD Department of Otorhinolaryngology, Faculty of
Medicine, Bandırma Onyedi Eylül University, Bandırma, Türkiye
Özden Türel, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Bezmialem Vakif University, İstanbul, Türkiye
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Contributors
Nurullah Türe, MD Department of Otorhinolaryngology, Faculty of Medicine,
Kütahya Health Sciences University, Kütahya, Türkiye
MehmetTurgut, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Adıyaman University, Adıyaman, Türkiye
Seckin Ulusoy, MD Department of Otorhinolaryngology, Faculty of Medicine,
Haliç University, İstanbul, Türkiye
Istanbulesthe Private Clinic, İstanbul, Türkiye
EdhemUnver, MD Department of Pulmonology, Faculty of Medicine, Erzincan
Binali Yildirim University, Erzincan, Türkiye
Dilyana Vicheva, MD, PhD Department of Otorhinolaryngology, Medical
University of Plovdiv, Plovdiv, Bulgaria
Tarik Yagci, MD Department of Otorhinolaryngology, Faculty of Medicine,
Bilecik Şeyh Edebali University, Bilecik, Türkiye
Mehmet Yasar, MD Section of Otorhinolaryngology, Kayseri City Hospital,
Kayseri, Türkiye
Edanur Yeşil, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Mersin University, Mersin, Türkiye
CagriYildirim-Toruner, MD Division of Pediatric Rheumatology, Department of
Pediatrics, Baylor College of Medicine, Houston, TX, USA
Texas Children’s Hospital, Houston, TX, USA
Yavuz Sultan SelimYıldırım, MD Department of Otorhinolaryngology, Elazığ
Fethi Sekin City Hospital, Elazığ, Türkiye
AyşeTekinYılmaz, MD Division of Pediatric Infectious Diseases, Department of
Pediatrics, Faculty of Medicine, Sakarya University, Sakarya, Türkiye
Begüm Yılmaz, MD Section of Otorhinolaryngology, Kırşehir Training and
Research Hospital, Kırşehir, Türkiye
AlaattinZirek, MD Section of Otorhinolaryngology, Bakırköy Dr. Sadi Konuk
Training and Research Hospital, University of Health Sciences, İstanbul, Türkiye
Part I
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General Overview
Pediatric Hearing Loss
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NurullahTüre, NurayBayar Muluk, CemalCingi,
andKevinA.Peng
1.1 Introduction
In adults, a majority of cases of hearing loss are sensorineural in nature, but in children, hearing loss is conductive in nature in between 90 and 95% of cases. However,
sensorineural hearing losses are still commonly encountered in the clinical setting,
and many cases of paediatric sensorineural hearing loss are congenital in nature. For
children, an effusion of the middle ear, or otitis media accompanied by an effusion,
(OME) is, by a considerable margin, the most common cause. It is still not fully
known to what extent OME is responsible for persistent impairments in speech and
language abilities. One reason for this uncertainty is that auditory impairment with
OME can be very short-lasting and variable, the condition may be uni- or bilateral,
any auditory impairment may be only mild, and there are multiple ways to treat the
condition, both pharmacologically and surgically. Congenital causes of
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N. Türe (*)
Department of Otorhinolaryngology, Faculty of Medicine, Kütahya Health Sciences
University, Kütahya, Türkiye
e-mail: nurullahture@gmail.com
N. Bayar Muluk
Department of Otorhinolaryngology, Faculty of Medicine, Kırıkkale University,
Kırıkkale, Türkiye
e-mail: nbayarmuluk@yahoo.com
C. Cingi
Department of Otorhinolaryngology, Faculty of Medicine, Eskişehir Osmangazi University,
Eskişehir, Türkiye
e-mail: cemal@ogu.edu.tr; ccingi@gmail.com
K. A. Peng
House Clinic and House Institute Foundation, Los Angeles, CA, USA
e-mail: kpeng@houseclinic.com
© The Author(s), under exclusive license to Springer Nature
Switzerland AG 2023
A. E. Arısoy et al. (eds.), Hearing Loss in Congenital, Neonatal and Childhood
Infections, Comprehensive ENT, https://doi.org/10.1007/978-3-031-38495-0_1
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non- uctuating conductive hearing loss (CHL) with a degree of severity ranging
from moderate to severe are rare, but do occur in congenital aural atresia (CAA) or
conditions affecting the ossicles, such as congenital stapes ankylosis. When these
conditions are present, and especially if bilateral and not diagnosed and effectively
managed, there is a possibility of persistent impairments in speech and language as
well as academic performance [1, 2].
N. Türe et al.
1.2 Sensorineural Hearing Loss
The hearing mechanism is extremely complex, and any malfunction of the inner ear,
cochlea or central nervous system can lead to sensorineural auditory impairment of
some degree of severity. Disorders of a biochemical, metabolic, haematological,
endocrine or vascular type can all disrupt auditory function to a severe degree [3, 4].
1.2.1 Epidemiology
Auditory impairment has a global prevalence approaching 30%, with an estimated
70 million individuals suffering from deafness or bilateral profound hearing loss.
There are marked differences between different international populations in terms
of the number of cases due to acquired conditions and whether hearing loss is part
of a syndrome or occurs in isolation. There are many reasons for this heterogeneity,
including how common consanguinous unions are, the general state of health and
population migration, amongst others, some of which have probably not yet been
identied [4].
There are signicant barriers to evaluating the true frequency of auditory impairment on a global scale. In many populations, accessing health services is challenging and health is generally poor, whilst many individuals are not aware of the
possibility of auditory impairment. Furthermore, there are often elevated risks in
these groups, due to a greater prevalence of neonatal distress, premature birth,
extreme pyrexia, middle ear infections, meningitis, ototoxic medications and specic infections, notably rubella [5].
Both genetic and ethnic factors also inuence the frequency of auditory impairment associated with syndromes, as well as, potentially, non-syndromic or acquired
cases. A study in rural Nicaragua conducted by Saunders etal. ascertained that 18%
of children attending school had auditory impairment, with 24% of the group having a positive family history of the same. A group of 96 children attending a clinic
who presented with auditory impairment were evaluated for dysmorphological features. Anomalies were common, such as atresia, ears set low or atretic, childhood
cataracts, underdeveloped cheekbones, hemifacial microsomia, undersized jaw and
branchial cleft cysts. A dened syndrome was present in ve individuals, although
dysmorphic features were also common that appeared incidental to auditory impairment or did not t a dened syndrome. The syndromes identied were neurobromatosis, oculo-auriculo-vertebral, branchiootorenal, Poland and Down syndrome [5].
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1.2.2 Aetiology
There are multiple ways in which sensorineural hearing loss (SNHL) may present.
It may range from mild to profoundly severe and may affect high- or low-frequency
sounds. Auditory impairment with a genetic cause may occur in isolation or within
a syndrome. The former situation represents 70% of genetic cases, the latter 30% [4].
1.2.2.1 Autosomal Dominant Auditory Impairment asPart
ofaSyndrome
Autosomal dominant disorders responsible for auditory impairment occur less commonly than autosomal recessive disorders. Some of the syndromic conditions implicated are Waardenburg, neurobromatosis, Tietze, Hermann, Leopard, Kearns-Sayre,
Crouzon, Forney, achondroplasia, Duane, Marfan and branchiootorenal syndromes [4].
• Waardenburg syndrome
– The most frequently occurring syndrome causing auditory loss with an auto-
somal dominant pattern of inheritance is Waardenburg syndrome (WS). This
condition is responsible for 2% of cases of congenital auditory impairment in
American children. The frequency is 2 in 100,000 births. According to a
review undertaken by Song etal., 71% of those with WS experience auditory
impairment, which mainly affects both ears and is of sensorineural type [6].
– WS demonstrates an autosomal dominant pattern of inheritance with variable
penetrance. After detailed studies of its genetic location, it has been mapped
to 2q35 or 2q37.3. Mutated alleles of the PAX3 gene are responsible for WS
types I and III.WS type II may sometimes be due to a mutated allele for the
MITF gene. Mutated alleles coding for EDNRB, EDN3 and SOX10 are associated with type IV WS.
– The condition results in the abnormal development of the temporal bone, with
an atrophic organ of Corti and stria vascularis. There are insufcient neurons
within the spiral ganglion. The resulting auditory impairment may affect one
or both ears, and may be profound or moderate, in which case the ability to
hear high-pitched sounds is preserved.
– WS Type I has the following presenting features:
The medial canthi and lacrimal puncta are always displaced laterally
In three-quarters of cases, the nasal radix is elevated and exhibits
hyperplasia
In half of the cases, the medial section of the eyebrows is hyperplastic
In a quarter of cases, there is complete or partial heterochromia of the iris
The head overlying the forehead exhibits a clearly demarcated area of albinism or one of the forelocks has this appearance
In a quarter of cases, there is sensorineural auditory impairment in one or
both ears
– Type II WS differs from type I by the absence of displaced canthi and the fact
that as many as 55% of cases feature sensorineural auditory impairment. It
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N. Türe et al.
has been estimated that the frequency of type II WS is 20-fold that of
WS type I.
– Type III WS is associated with upper limb anomalies.
– Type IV WS is associated with Hirschsprung disease [4].
• The next most frequently occurring type of syndromic auditory impairment
exhibiting an autosomal dominant pattern of inheritance after WS is branchiootorenal syndrome. The presenting features are branchial cleft abnormalities,
abnormal morphology of the kidney and abnormalities of the outer, middle and
inner ear. The auditory impairment may be conductive, sensorineural or mixed in
nature. There are pits located forward of the ear and the pinna is anomalous. The
middle and inner ear exhibit structural anomalies. Mutated alleles for the EYA1,
SIX1 and SIX5 genes are implicated in the aetiology [4].
• Neurobromatosis 2 is the result of a mutant NF2 allele located on chromosome
22. It presents with multiple growths, which may represent schwannomas,
meningiomas, gliomas or ependymomas. In some patients, these growths are
seen even at the age of 8–12years. If auditory impairment is secondary to the
development of a schwannoma within the vestibule and surgery is performed at
an early stage, the hearing may be recovered, although this represents an exceedingly small fraction of cases [4].
1.2.2.2 Autosomal Recessive Disorders
• Usher syndrome [7]
– Usher syndrome has a stated frequency in the literature of 3in 100,000 live
births. Still, nearly 1in 10 cases where auditory impairment is apparent from
birth is due to Usher syndrome. Inheritance follows an autosomal recessive
pattern. Usher syndrome is the most frequently occurring cause of deafness
inherited in this fashion. Patients with the condition progressively lose sight
secondary to developing retinitis pigmentosa and the auditory impairment is
of sensorineural type and typically at least of moderate severity. Half of
Americans who are both deaf and blind have Usher syndrome.
– It is challenging to diagnose visual loss in infants. Examining children using
a fundoscope up to the age of 10years is challenging. Although it is possible
to detect the early signs of retinal damage in a young child using electroretinographic techniques, this method is not usually easily accessible. As retinitis
pigmentosa progressively develops, it may become apparent as loss of visual
elds or nyctalopia. Visual ability progressively deteriorates, such that half of
those affected by the condition are totally blind by the time they are
50years old.
– Typically, there is auditory impairment present congenitally. Progression to
profound loss is eventually noted in 85% of cases. The histological appearances show the cochlear sensory epithelium is degenerated. Since there is a
loss of microphonic potentials normally generated by the cochlear hair cells,
it appears that the dysfunction of these cells is how auditory loss occurs. It is
common to nd that patients whose hearing loss is of high severity also have
vestibulocerebellar syndrome.
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– Usher syndrome is found in 3 variants:
In type I, the auditory loss is severe or profound in both ears from birth,
and there are abnormalities in the vestibular system.
In type II, congenital hearing loss is mild or moderate, and there are no
vestibular abnormalities.
In type III, hearing loss progressively worsens, and there are vestibular
abnormalities.
– The genetic mutations responsible for Usher’s syndrome are complicated.
Mutated alleles in at least ten different locations have been identied, in conjunction with eight actual gene mutations, notably MYO7A, USH2A, CDH23
and PCDH15 [8].
• Pendred syndrome is diagnosed by the presence of a clinical triad of hearing loss
present from birth, thyromegaly with multiple nodules and abnormally rapid loss
of iodine on perchlorate testing [7].
– The thyroid enlargement is not congenital. It happens because iodine is abnor-
mally incorporated into thyroglobulin. Between 5 and 10% of patients whose
auditory impairment is inherited in an autosomal recessive fashion have
Pendred syndrome. It usually affects both ears and the loss is greatest at the
high frequencies. The fact that positive recruitment occurs in audiological
testing points to cochlear involvement. There is frequently Mondini dysplasia
present in the cochlea with enlargement of the vestibular aqueduct.
– The SLC26A4 mutant allele is often found in such cases. This gene codes for
the pendrin protein, the normal function of which is anionic exchange of chloride, iodide and bicarbonate ions through cells’ outer membranes. Pendrin
plays a key physiological role in the inner ear and thyroid [9]. There are
genetic screens available for mutant SLC26A4 alleles. They should be used in
cases where Mondini dysplasia or enlargement of the vestibular aqueduct
is noted.
• The third most frequently observed syndrome causing auditory loss, inherited in
an autosomal recessive fashion and responsible for 1% of such cases, is the
Jervell-Lange-Nielsen syndrome. The features of this condition are abnormal
elongation of the QT interval in electrocardiography, Stokes-Adams syncope,
severe auditory impairment present from birth and sudden death. The StokesAdams episodes often commence while the child is still young. Sudden death
may occur at an older age. Otoscopy ndings indicate various heart-related
abnormalities, such as degenerated sinoatrial nodal bres, brotic tissue formation, haemorrhage and infarcted tissue [4].
– When the temporal bone is examined, the organ of Corti and spiral ganglion
are noted to be atrophic. On histological examination of periodic acid-Schiff
stained sections of the membranous labyrinth, hyaline is noted to be extensively deposited in the labyrinth. The utricular and saccular sensory cells are
also atrophic.
– Although QT prolongation may be picked up on electrocardiography, this
method is not very sensitive. In a child where there is a positive family history
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