Phoniatrics I: Fundamentals – Voice Disorders – Disorders of Language and Hearing Development

This is the first of two volumes that draw on the specialized insights and extensive clinical experience of phoniatric experts in order to offer a basis for the development of concerted European training standards in phoniatrics, with the goal of guaranteeing a high quality of care for European patients in all age groups. The interdisciplinary character of phoniatrics is mirrored in the inclusion of valuable contributions from a range of other medical and non-medical disciplines. This volume focuses on voice disorders and disorders of language and hearing development. In each case a wide range of particular kinds of communication loss are considered. Basic aspects are fully addressed, and guidance provided on diagnostic methods, differential diagnosis, prevention, treatment/rehabilitation, and prognosis. An introductory section also discusses the fundamentals of phoniatrics. The reader will benefit from numerous color photos and tables as well as supplementary electronic material, including audio and video examples. This book is intended for residents and practitioners in phoniatrics and also for ENT physicians, medical students, logopedists, and speech and language pathologists and therapists.

• Language: English
• Publisher: Springer
• Release date: Dec 4, 2019
• ISBN: 9783662467800

Book preview

Part I

Fundamentals

Editor: Antoinette am Zehnhoff-Dinnesen

Lector: Philippe Dejonckere

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

A. am Zehnhoff-Dinnesen et al. (eds.)Phoniatrics IEuropean Manual of Medicinehttps://doi.org/10.1007/978-3-662-46780-0_1

1. Basics of Phoniatrics

Lisa Bartha-Doering¹  , Peter Birkholz²  , Cori Casanova³  , Felix de Jong⁴  , Wivine Decoster⁵  , Ilter Denizoglu⁶  , Rolf Dierichs⁷  , Christian Dobel⁸  , Michèle Kaufmann-Meyer⁹  , Malte Kob¹⁰  , Anders Löfqvist¹¹  , Dirk Mürbe¹²  , Christiane Neuschaefer-Rube¹³  , Christo Pantev¹⁴  , Bernhard Richter¹⁵  , Ken Roßlau¹⁶  , Oskar Schindler¹⁷  , Harm K. Schutte¹⁸  , Ad Snik¹⁹  , Claudia Spahn²⁰  , Kurt Stephan²¹   and Jürgen Wendler²²  

(1)

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

(2)

Institute of Acoustics and Speech Communication, Technische Universität Dresden (TU Dresden), Dresden, Germany

(3)

Voice and Communication, Universitat Ramon Llull, Barcelona, Spain

(4)

Research Group ExpORL, University Hospitals KU Leuven, Leuven, Belgium

(5)

Research Group ExpORL, KU Leuven, Leuven, Belgium

(6)

Medical Park Hospital Imbatli Mahallesi, Izmir, Turkey

(7)

Former Institute of Anatomy, University Clinic of Münster, Münster, Germany

(8)

Medical Faculty, Department of Otorhinolaryngology, Friedrich-Schiller-University, Jena, Germany

(9)

Tüscherz-Alfermée, Switzerland

(10)

Detmold University of Music, Erich Thienhaus Institute, Music Acoustics and Theory of Music Transmission, Detmold, Germany

(11)

Department of Logopedics, Phoniatrics and Audiology, University Hospital Lund, Lund, Sweden

(12)

Department of Audiology and Phoniatrics, Charité– University Medicine Berlin, Berlin, Germany

(13)

Clinic of Phoniatrics, Pedaudiology and Communication Disorders, School of Medicine of the RWTH Aachen University, University Hospital Aachen, Aachen, Germany

(14)

Institute for Biomagnetismus and Biosignalanalysis, University of Münster, University Hospital Münster, Münster, Germany

(15)

Freiburger Institut für Musikermedizin, Hochschule für Musik und Universitätsklinikum Freiburg, Freiburg, Germany

(16)

Praxis, Hannover, Germany

(17)

Department of Surgical Sciences, University of Turin, Turin, Italy

(18)

Voice Research Lab. Groningen, Groningen, The Netherlands

(19)

Audiologisch Centrum, KNO Klinik, Radboud University Medical Center, Nijmegen, The Netherlands

(20)

Freiburger Institut für Musikermedizin, Hochschule für Musik und Universitätsklinikum Freiburg, Freiburg, Germany

(21)

Department for Hearing, Speech and Voice Disorders, Medical University of Innsbruck, Insbruck, Austria

(22)

Berlin, Germany

Lisa Bartha-Doering (Corresponding author)

Email: [e-mail]

Peter Birkholz

Email: [e-mail]

Cori Casanova

Email: [e-mail]

Felix de Jong

Email: [e-mail]

Wivine Decoster

Email: [e-mail]

Ilter Denizoglu

Rolf Dierichs

Email: [e-mail]

Christian Dobel

Email: [e-mail]

Michèle Kaufmann-Meyer

Email: [e-mail]

Malte Kob

Email: [e-mail]

Anders Löfqvist

Email: [e-mail]

Dirk Mürbe

Email: [e-mail]

Christiane Neuschaefer-Rube

Email: [e-mail]

Christo Pantev

Email: [e-mail]

Bernhard Richter

Email: [e-mail]

Ken Roßlau

Email: [e-mail]

Oskar Schindler

Email: [e-mail]

Harm K. Schutte

Ad Snik

Email: [e-mail]

Claudia Spahn

Email: [e-mail]

Kurt Stephan

Email: [e-mail]

Jürgen Wendler

Email: [e-mail]

Electronic Supplementary Material

The online version of this chapter (https://​doi.​org/​10.​1007/​978-3-662-46780-0_​1) contains supplementary material, which is available to authorized users.

Keywords

HistoryAnatomyEmbryologyAcousticsErgonomicsMusicMusicians’ medicineArticulatory modelsLinguistics

1.1 History of the Discipline

Jürgen Wendler

Phoniatrics is, as of the current definition from the Union of the European Phoniatricians (UEP) and the European Union of Medical Specialists (UEMS), the medical field for communication disorders, concerned with functions and diseases of voice, speech, language, hearing (especially in so far as hearing impairment has its effects on any of the areas previously mentioned) and swallowing. In practice, phoniatrics is a multidisciplinary speciality combining information from medical and non-medical sciences. In addition to general medical investigations and treatment procedures, phoniatrics encloses complex areas of competence in the fields of cognition, learning abilities, psychological behaviour and rehabilitation procedures. The more important medical fields for clinical practice are otorhinolaryngology (ENT), neurology, neuropaediatrics, (child) psychiatry, paediatrics, radiology, genetics, endocrinology, dentistry, gerontology and musicians’ medicine. On the other hand, the fundamentals of many non-medical disciplines, for instance, linguistics, phonetics, (neuro-) psychology, pedagogy, acoustics, information and communication sciences, also need to be included in phoniatric training programmes (Vilkman et al. 2010).

The following overview of the history of this discipline is based on these integrative interrelations. At the same time, it has to be stressed that the profile of phoniatrics as a medical speciality has always to be determined with reference to the aspects of disease and health in terms of specific approaches to clinical understanding, diagnostics and therapy of communication disorders.

1.1.1 Scientific Background

1.1.1.1 Antiquity

In antiquity, language and also speech often appeared as a type of divine mystery, a phenomenon, obvious when Pythia was announcing the Delphi oracles. This irrational approach to language can be followed in many parts of the world up to the present time, and we have come a long way to a more rational approach to speech and language, a road that can be marked here by only a very few towering giants as mentioned by Hans von Leden (1981, 1997a).

In contrast to his distinguished predecessors, such as Hippocrates and Aristotle, who thought of themselves as philosophers and based their wisdom largely on thoughtful speculation, Claudius Galenus (circa 131–216) was the first to derive his knowledge of anatomy and physiology from the dissection of animals (mainly pigs and dogs) and to base his judgement on these personal observations. In his book De usu partium corporis humani, he described the most important cartilages and muscles of the vocal system as well as its innervation and compared the production of the voice to the sound from a flute. He correctly identified the larynx as the instrument of voice or principalissimum organum vocis. He separated speech from voice, and he ascribed different types of hoarseness to various diseases and disorders of the vocal system. This medical colossus reigned like a dictator over the world of medical science; and his dominance extended throughout Europe and far into the sixteenth century.

1.1.1.2 Renaissance

The Renaissance began its work of enlightenment in the field of art, and some of the bolder artists did not hesitate to exchange brush for scalpel in order to explore the human body. Among them was Leonardo da Vinci (1452–1519), the versatile genius who contributed remarkable discoveries to the anatomy of the larynx and the physiology and pathology of the voice. His major anatomical study Quaderni d’anatomia that was completed about the year 1500 includes several rather lifelike drawings of the larynx. He also described the parts played by the structures of the mouth, lips and teeth for articulation and assigned phonetic terms to the acoustic signals.

The new spirit of freedom for scientific exploration found its zenith in the Italian universities. In Padua, the Fleming Andreas Vesalius’s (1514–1564) great work De humani corporis fabrica reformed the knowledge of anatomy including detailed depictions of the larynx; some of the magnificent woodcuts in this volume have been attributed to Titian. One of the successors of Vesalius as professor of anatomy at Padua was Hieronymus Fabricius of Aquapendente (1537–1619). A diligent student of comparative anatomy, Fabricius, published a textbook on the organs of vision, voice and hearing: De Visione, Voce et Auditu. This book and two others present anatomically correct pictures of the vocal organ, and the author states categorically that ‘the vocal cords and the gap between them cause the voice’. Giovanni Battista Morgagni (1682–1771) was the last and the greatest of the celebrated professors who made Padua the leading medical school of Europe. He stressed the organic pathological state of the organism and followed a topographic classification system (The Seat and Causes of Diseases, 1769). He assumed, for instance, that hyoid bone deviations were the cause of the majority of cases of stuttering, and he described various cases of speechlessness associated with apoplexy, head injury and cerebral disease. His painstaking observations called attention to the larynx as the primary site of diseases and formed the basis of laryngeal pathology, far beyond the description of the ventricles erroneously named after him. (Morgagni himself had stressed that these structures had been clearly identified before him by Galenus and Fabricius.) Also in Padua, Hieronymus Mercurialis (1530–1696) held the Chair of Practical Medicine. As early as 1583, he made an attempt that can be considered most striking even today. In an excellent review on stuttering in the view of mediaeval physiology, the classical theories of Galen, Aristotle, Hippocrates and others are discussed in terms of aetiology and therapy in order to explain conflicting points of view (Rieber and Fröschels 1966).

1.1.1.3 From the Seventeenth to Nineteenth Centuries

With the formation of the Royal Society in England during the second half of the seventeenth century, an important scientific forum came into being, where, among many other topics, questions of phonetics were discussed, as well as teaching of speech for the deaf.

The Swiss physician Johann Conrad Amman (1669–1724), often considered the father of logopaedics, published in Amsterdam in 1700 his Dissertatio de Loquela (based on his dissertation Surdus Loquens (the speaking deaf) 1692), dealing profoundly with general basics of human language and speech.

Francisco Boissier de Sauvages (1706–1767), Montpellier and Paris, botanist and physician, presented (probably stimulated by the systematology of Carl von Linné) the first overall systematic classification of diseases based on clinical similarities of aetiology, anatomy and therapy in 1768: ‘Nosologia methodica sistens morborum classes’. Regarding our field of interest, he grouped the following clinical entities under ‘Dyskinesia’: Mutitas (today analogous to complete loss of voice and speech), aphonia (loss of voice), psellismus (disorders of rate and rhythm such as stuttering and cluttering) and paraphonia (defects of vocal quality).

The fundamental change to a medicine generally based on natural science finally occurred in the nineteenth century. Johannes-Müller (1801–1858) in Berlin (Müller 1839), for instance, performed precise experiments on the excised larynx (1839), confirming earlier results achieved by the French anatomist Antoine Ferrein (1693–1769), the first scholar to conduct acoustic experiments on the isolated cadaver larynx (1741). With his exact measurements of vocal folds tension and subglottal pressure in relation to pitch and loudness, Müller created a solid basis for the aerodynamic-myoelastic theory of voice production still valid today.

Hermann von Helmholtz (1821–1894), an outstanding physiologist and physicist in Berlin, explored the acoustic structure of vowels through sophisticated subjective analyses and syntheses using rather simple resonators (1859) (von Helmholtz 1859). He described exactly the two spectral areas that characterise each individual vowel, which Ludimar Hermann (1838–1914), physiologist in Königsberg, named ‘formants’ later on (1894), identified by objective phonophotographic recordings and mathematical processing of the data. Helmholtz also based his theory of hearing on the principles of resonance still reflected in current frequency distribution on the basilar membrane.

1.1.1.4 From the Twentieth Century to Present Times

The recent century has been characterised by rapidly growing knowledge and technological progress in every respect:

The theoretical-linguistic construct of a ‘language acquisition device’ (Chomsky 1965), an instinctive mental capacity that enables an infant to acquire and produce language, an instinct or ‘innate facility’ for acquiring language (Chomsky 1965), was encouragingly supported or even confirmed by the discovery of the FOXP2-gene by Cecilia S. Lai et al. in 2001, a gene on chromosome No. 7 that obviously plays a major role in this connection (Lai et al. 2001), a milestone on ‘a long and winding road’ (Felsenfeld 2002). Practical consequences regarding specific developmental disorders of speech and language may be expected in the near future.

Independent of numerous theoretical concepts in the frame of Aphasiology, therapeutic concepts for the treatment of aphasia have changed fundamentally during the recent century (Schindler et al. 2014; Wendler et al. 2005). Starting out from a symptomatic-linguistic approach (language-orientated, restitution of verbal capacities as the definite goal and termination of therapy if this is not possible), followed by a communicative model (information-orientated, use of all means, linguistic or nonlinguistic, natural, supporting or artificial, to make possible any exchange of information; the restitution of linguistic capacities is not primarily crucial any more), the development finally arrived at an ecological concept (action-orientated, show and imitate, transfer of action to make possible basic daily activities such as personal hygiene, dressing oneself, ingestion of food; the restitution of communicative capacities is not primarily crucial any more). These changes stand for a considerable extension of rehabilitative perspectives to the benefit of the aphasic patients themselves as well as for their personal environment.

On the other hand, stuttering still continues to be an issue of intense investigations without a real breakthrough in terms of an evidence-based causal therapy. However, there is good reason to hope for relevant results from molecular genetic research.

With the discovery of otoacoustic emissions by David T. Kemp 1976 (Kemp 2007) and the introduction of the measurements of these signals for newborn hearing screening, the door was opened for the early detection of relevant hearing losses and effective treatment decisions including the application of cochlear implant systems (by Clark et al. 1979), the most successful electronic prosthesis for the time being (Clark 2003). In recent years there has been a dramatic upsurge in professional and public awareness of Auditory Processing Disorders (APD), also referred to as Central Auditory Processing Disorders (CAPD) (Bellis 1997; Schönweiler et al. 2012).

In the middle of the last century, Raoul Husson (1901–1967), a French physicist and singer, perplexed the scientific world by a ground-breaking, unbelievable idea about the production of the voice. He claimed that the vocal folds are brought to vibratory motion by rapid contractions of the vocalis muscles themselves, following ‘coup par coup’, nervous excitations from the recurrent nerve, instead of being passively set in vibration by air blowing from below (Husson 1950). This meant that the laryngeal sound was produced by active movements of the glottis. After a short while of paralysis-like silence, scientists all over the world started a great variety of research programmes to check this new philosophy, most of them deeply convinced that this could be nothing but a fundamental error. One of them was Janwillem van den Berg (1920–1985) who essentially contributed a convincing confirmation of the aerodynamic-myoelastic theory of voice production (van den Berg 1958). Among many other profound studies, he repeated the Johannes-Müller experiments according to his current technical possibilities and produced, together with the American singer William Vennard, a fascinating instructional film on the vibrating larynx (1969) clearly demonstrating the aerodynamic-myoelastic principle.

Aatto Sonninen’s (1922–2009) comment on Husson at a symposium in Wendler (2010):

His work was by no means in vain. On the contrary, without his work our knowledge of vocal physiology would certainly be much more fragmentary. Hardly anyone but Husson has had such a stimulating effect on the research of vocal fold anatomy and the role of the central nervous system in phonation. In my opinion, the life work of Husson deserves the deference and commendation of succeeding generations. The lesson that can be learned from the scientific war described above is on one hand the fact that the bold and unprejudiced framing of questions - possibly leading to erroneous conclusions - is not dangerous, something to be feared. On the contrary, it may help in opening quite new perspectives. On the other hand, however, a scientist must always aim at confirming in all respects the validity and reliability of his observations.

Van den Berg’s research has been successfully carried on by Harm K. Schutte (1992).

Of course, the aerodynamic-myoelastic aspects of voice production reveal a rather mechanical view on this process, often belittled as mechanistic by scientists concentrating on psychological conditions and considered to be of, at the most, peripheral importance. Thus, they looked quite sceptically at surgical attempts to correct morphological changes of laryngeal structures, but these interventions proved to be very successful. Hans von Leden and Godfrey Arnold (1914–1989) coined the term phonosurgery in 1963 for surgical procedures to improve or to restore vocal function (von Leden 1997b). Afterwards, Hirano (1975) and Isshiki (1989) presented extended histo-anatomical and acoustic studies as a basis for specific microsurgical procedures that were soon in common use worldwide, and since the 1970s, biomechanics has increasingly attracted attention as a powerful tool in many medical fields. This does not mean that psychological and behavioural dimensions of voice production should be neglected. Another milestone in voice therapy, competing with psychological approaches, was the courageous introduction of botulinum neurotoxin, one of the strongest poisons, by Blitzer et al. (1986) for the successful symptomatic treatment of muscular dystonias such as spasmodic dysphonias (Blitzer et al. 1986). In 2000, the International Association of Phonosurgeons extended the definition of phonosurgery from voice to speech, taking in account the essential contributions of phoniatrics to the rehabilitation of cleft palate patients (Hirschberg 1997).

1.1.2 Medical Specialisation Towards Voice, Speech, Language and Hearing

From both Paris and London, the itinerant Spanish teacher of song, Manuel García (1805–1906) (García 1854), promoted enthusiastically the use of a mirror to observe the acting larynx deep in the throat and thus opened the door to the development of laryngology, pioneered by Ludwig Türck (1810–1868) (Türck 1860) in Vienna and Johann Nepomuk Czermak (1829–1873) (Czermak 1863) in Pest, Hungary.

Only a few years later, the leading surgeon in Tubingen, Germany, Victor von Bruns (1812–1883), succeeded via laryngeal mirror (without today’s anaesthesia, not available then) in removing a polyp from the vocal folds (von Bruns 1862). He designed special instruments, quite similar to those still in use today, and he left a collection of excellent pictures (von Bruns 1873). Von Bruns contributed significantly towards establishing medical competence in voice disorders.

In contrast, 20 years previously in Berlin, the well-acknowledged surgeon of outstanding merit, Johann Friedrich Dieffenbach (1792–1847), had attempted to treat stuttering with horrible wedge excisions of the tongue and brought approximately equal damage to the developing reputation of medical speech therapy.

In Paris, the surgeon (and anthropologist) Pierre Paul Broca (1824–1880) localised the origin of expressive, motor language problems in the frontal lobe of the brain of ‘Mr. Tan’ (1861), a patient of his who was able only to produce repeatedly the stereotypic utterance ‘tan, tan’ (Broca 1861).

The German neurologist Carl Wernicke (1848–1905) from Breslau supplemented these findings in describing lesions of the temporal lobe associated with impressive or sensory language impairments (Wernicke 1874). Broca and Wernicke together represent a turning point, when largely speculative ideas on the phenomenon of aphasia were replaced with evidence from anatomy and physiology as the cornerstones of diagnosis and therapy.

Now the time was ripe for a comprehensive medical treatise on disorders of speech and language. It came from Adolph Kussmaul (1822–1902) (Fig. 1.1), internist in Strasbourg, Alsace. His book, The Disorders of Speech (Die Störungen der Sprache, 1877), became the standard work for more than a generation (Kußmaul 1877). A fourth edition was published 8 years after his death.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig1_HTML.jpg

Fig. 1.1

Adolph Kussmaul

The new medical field was at first denominated as voice and speech pathology (Stimm- und Sprachheilkunde). The closest approximation, however, to the present term ‘phoniatrics’ was found in the term ‘phoniatros’ (1886), the telegram address of the London laryngologist Morell Mackenzie (1837–1892).

Voice and speech pathology was initially developed from two centres: Berlin and Vienna. Albert Gutzmann (1839–1910), a highly motivated teacher of the deaf in Berlin, also worked with speech/language impairment, particularly stuttering. He organised courses and edited a journal of medicine and pedagogy (Medizinisch-pädagogische Monatsschrift) as of 1891 together with his son Hermann, then a medical student.

In 1905, Hermann Gutzmann (1865–1922) (Fig. 1.2) completed his Ph.D. thesis on ‘Respiratory Movements in their Relation to Speech/Language Disorders’ and gave the probative lecture at the Medical Faculty of the Berlin Kaiser-Wilhelm-University on ‘Speech/Language Disorders as a Topic of Clinical Education’. With his pioneering inauguration, he established medical Voice and Speech Pathology as an academic discipline and made the Berlin Charité Hospital the cradle of phoniatrics.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig2_HTML.jpg

Fig. 1.2

Hermann Gutzmann Sr.

International students worldwide flocked to Berlin to study under Hermann Gutzmann. Thirteen books and more than 300 articles offer evidence of his scientific achievement (complete bibliography in Wendler 1980). His main work, ‘Sprachheilkunde’ (Gutzmann 1912), was standard reference of the discipline for many years. The Berlin school of phoniatrics was based on natural sciences, physiology and phonetics; its students were known as the ‘organists’.

In contrast, the Vienna school led by Gutzmann’s student Emil Fröschels (1884–1972) (Fig. 1.3), as of 1909, emphasised the psychological basis, and its students were tipped as the ‘psychologists’ (Fröschels 1913). Being a Jewish scientist, Fröschels was expelled from his academic position. He emigrated from Austria to the United States in 1939 where he continued his work in St. Louis and in New York for many more years and, very successfully, held in high esteem all over the world owing to his outstanding achievements.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig3_HTML.jpg

Fig. 1.3

Emil Fröschels. With kind permission from Josephinum, Ethics, Collections and History of Medicine, MedUni Vienna

The internist Kussmaul had demonstrated multiple close relations between speech and language disorders with neurology and psychiatry and detailed the cerebral origins of language and speech. Both Gutzmann and Fröschels attached their departments to otolaryngology with the more peripheral structures and functions in focus, covering the fields of voice, speech/language and hearing, without ignoring the central functions. This latter tradition is still alive in several areas and corresponds to a communicative approach.

1.1.3 After the Second World War

After the Second World War, with large areas of Europe in ruins, Prague assumed the leadership in phoniatrics. Miloslav Seeman (1892–1975) (Fig. 1.4), a student of Gutzmann, succeeded here in 1967 in establishing the first University-Clinic for Phoniatrics, and young students from across the world met there for advanced studies in the field. These students included many Germans of the post-war generation who rediscovered their nation’s contributions to the field and were able to re-establish phoniatric competence in Germany: good reason for them to be very grateful for this guidance and friendship offered by the colleagues of the Prague school under Miloslav Seeman and Eva Sedláčková (1913–1976). In 1958, phoniatrics was established as an official subspeciality to ENT in Czechoslovakia, a model later on for the further development in Europe. Seeman’s textbook Poruchy détski reči (Language Disorders in Children), 1955, seven editions, translated into German, French and Russian, contributed essentially to shaping the phoniatric profile in post-war Europe (Seeman 1955). The same is true for Richard Luchsinger (1900–1993) and Gottfried (Godfrey) Arnold (1914–1989) with their textbook from 1948 and 1959 that in 1970 was extended to two volumes as Handbuch der Stimm- und Sprachheilkunde (Luchsinger and Arnold 1970) and also appeared in English. All of them were students of Hermann Gutzmann, and they followed his ideas in the same way that Karl Wilhelm Weinberg (1862–1935) did in Sweden, where phoniatrics achieved the acknowledgement of a medical speciality of its own standing as early as in 1931 owing to the activities of Bertil Borg (1894–1931) and Bertil Kågen (1905–1978) and supported by the holder of the first professorial chair in ORL in Sweden, Gunnar Holmgren (1875–1954). In Finland (phoniatrics became an independent speciality in 1948), it was Rauha Hammar (1878–1964) together with Lennart Sjöström, in Switzerland, Max Nadoleczny (1874–1940) and in Poland Wladyslaw Ołtuszewski (1855–1922) (Wendler 1980). Besides this so-called German-speaking group, there was a very active ‘francophone group’ led by Jean Tarneaud (1888–1972), France, and completed by Bernard Vallancien (1907–1980), France; Jean-Claude Lafon (1922–1998), France; Jordi Perelló (1918–1999), Spain; Lucio Croatto (1920–2001), Italy; and André Muller (1918–2015), Switzerland (Perelló 1977). Regrettably, there was little if any contact between the two groups, even after the edition of Folia phoniatrica, the pioneering international journal of phoniatrics, by Luchsinger, Seeman and Tarneaud in 1947, with contributions in English, French and German. Meantime, quite a number of phoniatric textbooks have appeared in several European languages; only a few of them can be quoted here (Böhme 2001, 2003; Friedrich et al. 2013; Hirschberg et al. 2013; Obrębowski and Tarkowski 2003; Pruszewicz 1992; Schindler and Schindler 2001; De Vincentiis 2001; Vasilenko 2002; Wendler et al. 2005). With his ‘Lexicón de Comunicologia’ (Perelló 1977), Perelló provided a multilingual dictionary comprising relevant terms of the discipline in Spanish, French, English, German, Catalan, Italian and Latin as well as biographical essentials of outstanding historical personalities.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig4_HTML.jpg

Fig. 1.4

Miloslav Seeman (from Sedláček E, Sedláček K (1973) Zum 80. Geburtstag von Prof. Dr. Miloslav Seeman. Folia Phoniatr Logop 25:1–8 with permission from S. Karger AG, Basel)

In post-war Germany, it was Peter Biesalski (1915–2001) who in 1969 opened in Mainz the first German University-Clinic for Communication Disorders. His domain was pedaudiology. Together with Gerhard Kittel (1925–2011) (Erlangen), Oskar Schindler (Torino) and Dušan Cvejić (1923–1998) (Belgrade), he founded in 1971 the Union of the European Phoniatricians, UEP (Fig. 1.5).

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig5_HTML.jpg

Fig. 1.5

The initiators of the UEP. Left to right: Gerhard Kittel, Peter Biesalski, Oskar Schindler, Dušan Cvejić

This became, mainly owing to the untiring efforts of Biesalski and Kittel, an extremely effective organisation, bringing together not only the two groups mentioned above but offering a channel for permanent contacts among people, even from the two sides of Europe divided by the iron curtain and the cold war. Annual congresses were organised, the venues of which alternated regularly between Western and Eastern Europe with a special highlight: the Gutzmann Anniversary in East Berlin in 1980 under the heading ‘75 Years of Phoniatrics’. In a Festschrift, the history and the present state of phoniatrics from 21 countries could be presented (Wendler 1980), and a Gutzmann-Medal was awarded to internationally leading personalities for the first time (Fig. 1.6).

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig6_HTML.png

Fig. 1.6

Awarding the Gutzmann-Medal, Berlin 1980, the laureates. Left to right: N.M. Kotby (Egypt), N. Isshiki (Japan), J. Hirschberg (Hungary), M. Hirano (Japan), L. Handzel (Poland), B. Fritzell (Sweden), T. Frint (Hungary), F. Frank (Austria), L. Dmitriev (Soviet Union), D. Cvejić (Yugoslavia), O. Caprez (Switzerland), L. Croatto (Italy), O. von Arentsschild (Western Germany), P. Biesaslski (Western Germany), C.I.E. Jansen (the Netherlands, hidden by J. Wendler, at the desk, laudator), G. Kittel (Western Germany), I. Maximov (Bulgaria), J. Perelló (Spain), E. Loebell (Western Germany), A. Pruszewicz (Poland), K. Sedláček (Czechoslovakia), C. Siegert (Eastern German), A. Sonninen (Finland), F. Šram (Czechoslovakia), R. Tostmann (Eastern Germany), H. Lindholm (Sweden). Not in the picture: H. von Leden (USA), W. Pfau (Eastern Germany)

The structure and content of the field of phoniatrics were defined and determined through close cooperation among several partners, of especial importance are the European Union of the Medical Specialists (UEMS) with Willy Wellens representing the UEP in the beginning and the International Federation of Oto-Rhino-Laryngological Societies, IFOS.

The UEP has launched numerous programmes to shape and define phoniatrics further as the medical speciality for communication disorders and to develop programmes to train and educate competent phoniatricians. A first draft was published by Wendler and Wellens in 1983 (Wendler and Wellens 1983). Within the EU, the harmonisation of such programmes is continuously advancing, after Christiane Neuschaefer-Rube (Germany) currently with Tamer Abou-Elsaad (Egypt) and Tadeus Nawka (Germany) representing phoniatrics within the framework of UEMS with a well-elaborated training programme and logbook (Vilkman et al. 2010, updated 2018), and the European concept of phoniatrics attracts increasing attention worldwide.

Under the Standing IFOS Committee on Phoniatrics and Voice Care (Chair J. Wendler), the special profile of phoniatrics has been generally acknowledged (International Federation of Oto-Rhino-Laryngological Societies 1986). This Committee can be traced back to the Committee on the Care of Voice established in 1969 by the pioneer of phonosurgery, Hans von Leden. In 1993, IFOS recommended that selected phoniatric topics be included in postgraduate ENT training programmes as a basic requirement for their completion (International Federation of Oto-Rhino-Laryngological Societies 1993).

An interdisciplinary organisation, the International Association of Logopedics and Phoniatrics, had been founded in Vienna on the initiative of Emil Fröschels as early as in 1924 (Perelló 1982). He originally named the medical field of speech/language pathology ‘Logopedics’. Hugo Stern and Miloslav Seeman later introduced the term Phoniatrics, which is in common use today to describe communication medicine, whereas the term Logopedics denotes the corresponding non-medical speciality.

1.1.4 Present and Future

Since the 1960s, phoniatrics has extended its scope from the above-outlined concept of physiological and psychological aspects of voice, speech/language and hearing to an all-encompassing perspective of communication including all input, central and output functions as well as sociocultural and ecological dimensions. As the primary function of the articulatory system, swallowing has also been included in the competence of the field. Regarding aetiological studies, molecular genetics has already contributed essential insights, particularly in the field of hearing and developmental language disorders, and as far as stuttering is concerned, genetic factors are being explored with encouraging perspectives. Neurosciences, especially in terms of neurolinguistics, are opening up new ways to the understanding and management of central language processing by means of functional imaging technologies. As the medical speciality for communication disorders, phoniatrics is a worldwide issue today, although with significant geographical differences. The status of phoniatrics varies, in a global view, from an independent speciality on its own to a rather unknown peculiarity, whereas in continental Europe, the cradle of phoniatrics, the speciality is generally well established.

According to an international inquiry in 2012 (Wendler 2012), there were some 1200 specialists in the field: 300 in Italy, 290 in Germany, 210 in Poland, 96 in Czechoslovakia and altogether some 100 university departments. According to a survey from 2016 (Antoinette am Zehnhoff-Dinnesen et al. 2016) we got data about colleagues active in phoniatrics concerning the following countries: 40 in Austria, 10 in Belarus, a couple of dozen in Belgium, 120 in the Czech Republic, many hundreds in Egypt, 23 in Finland, 319 in Germany, 23 in Hungary, 150 in Mexico, more than 200 in Poland, 150 in Russia, 13 in Saudi Arabia, about 100 in Spain, 32 in Switzerland, about 20 in the Netherlands, 15 in Turkey and 135 in Venezuela, in total more than 1650.

According to that survey phoniatrics is an independent specialty in Finland, Germany, Italy, Poland, Egypt, Mexico and Venezuela. It is an officially recognised subspeciality to ENT in many other countries. In several countries, hearing-impaired children are cared for through pedaudiology as an integrated part of phoniatrics. In others, this is a special area of audiology. Considerations to bring phoniatrics and audiology together in terms of a speciality ‘communication medicine’ are being discussed.

For the near future, when rules and regulations for medical specialisation regarding professional profiles and official recognition can be expected to be continuously under discussion, successful cooperation is of greatest importance between UEP with their untiring past president Antoinette am Zehnhoff-Dinnesen (Germany), because of her outstanding merits in rebuilding and further developing the UEP appointed honorary president in 2018, with her inspiring successor Ahmed Geneid (Finland), and with the phoniatric representatives within UEMS. An eminent milestone on the way towards a high level standard of the discipline in all of Europe was the foundation of the European Academy of Phoniatrics in 2013, initiated and finally well established after sustained multiple efforts by Antoinette am Zehnhoff-Dinnesen as the founding director. Christiane Neuschaefer- Rube was elected first president of the academy, mean-time followed by Tadeus Nawka (Germany).

In spite of differing concepts of formal professional formats and independently from systematic orders, the medical challenges of the information age require the general adoption of a recognised special medical field with encompassing compe tence for communication disorders, and that is phoniatrics.

1.2 Developmental and Anatomical Background of Communication and Swallowing Disorders

Rolf Dierichs

1.2.1 Embryology

1.2.1.1 Cranium and Face

Normal Craniofacial Development (Figs. 1.7, 1.8, 1.9 and 1.10)

(Kliegman and Nelson 2007) The human skull comprises three components of different origin: the chondrocranium, which forms from three parasagittal cartilages and three sensory capsules via endochondral ossification; the membrane (dermal) bones, ossifying directly from mesenchyme of the skin; and the branchial skeleton of the pharyngeal arches, forming via endochondral ossification. The parasagittal cartilages form the base and median elements of the skull, and the primitive sensory capsules are the origins for elements of the nose, orbit and temporal bone.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig7_HTML.jpg

Fig. 1.7

Facial development, day 24, day 33, day 48 (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig8_HTML.jpg

Fig. 1.8

Sagittal section through the head; the nasal septum has been removed. Week 5, week 6, week 7 (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig9_HTML.jpg

Fig. 1.9

Frontal section through the head, weeks 6–12, fusing of the maxillary shelves with the nasal septum (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig10_HTML.png

Fig. 1.10

Roof of the oral cavity, weeks 6–12, demonstrating the developing palate (from Moore and Persaud 2003, courtesy of Elsevier)

The membrane bones of the human skull include the cranial vault (calvaria) and the bones of the face. The bones of the calvaria are separate at birth but will fuse to form sutures, and the fontanelles between these bones will join later after the brain has finished growing.

From week 4 to week 10, the face develops from five facial swellings: paired maxillary swellings, paired mandibular swellings and an unpaired medial frontonasal process. The maxillary swellings enlarge in the fifth week; they lengthen medially and form the primordia of the cheeks and the lateral portions of the upper lip. The lateral portions of the maxillary and mandibular swellings fuse to produce the final shape of the mouth. The mandibular swellings enlarge to form the primordia of the lower lip and jaw in the fourth and fifth weeks. The buccopharyngeal membrane, which separates the ectodermal stomodeum from the endodermal foregut, breaks down on day 24.

In the fifth week, ectodermal thickenings, called nasal placodes, appear on the frontonasal process, which will give rise to the nose and philtrum. Each placode develops a nasal pit in its centre. In the sixth week, its lateral edge, the lateral nasal process, will form the sides of the nose; its medial rim, the medial nasal process, will fuse with its contralateral partner to form the bridge of the nose. During the seventh week, the inferior portion of the fused material forms the intermaxillary process that will join the maxillary swellings to form the philtrum of the upper lip.

The nasal pits enlarge and fuse to form the nasal sac, with the nasal fin developing from its floor to separate the nasal and oral cavities. The nasal fin thins to form the oronasal membrane. It finally ruptures, forming an opening into the oral cavity, called the primitive choana. The primary palate grows posteriorly from the intermaxillary process as a ridge to form the floor of the primitive nasal cavity.

In the eighth week, a pair of palatine shelves initially grows inferiorly from the maxillary swellings into the oral cavity, on either side of the tongue. The shelves rotate horizontally in the ninth week and fuse medially to form the secondary palate. The anterior portion of the secondary palate ossifies to form the hard palate, while muscles of the soft palate develop in its posterior portion. Meanwhile, the nasal septum grows inferiorly from the roof of the nasal cavity, fusing with the top of the hard palate to form two nasal passages that communicate with the pharynx through the definitive choanae.

Malformations of Lips and Palate (Figs. 1.11, 1.12 and 1.13)

Cleft lips occur about once in 100 births. Males dominate by 60–80%. The clefts vary from small notches in the red of the lip to larger gaps, including the floor of the nose and the alveolar process of the maxilla. They may appear uni- or bilaterally and are caused by a failure of the maxillary swelling and the nasal prominence to merge. The median cleft lip (Figs. 1.7, 1.8, 1.9, 1.10, 1.11, 1.12 and 1.13a) is an extremely rare malformation, probably induced by a deficiency of mesenchyme and an incomplete fusion of the medial nasal processes.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig11_HTML.png

Fig. 1.11

Development of a cleft lip: (a, c, e, g): week 5, week 6, week 7, week 10, foetus with a complete unilateral cleft lip. (b, d, f, h): Horizontal section through the upper lip (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig12_HTML.png

Fig. 1.12

Various forms of split palate: (a) Normal development. (b) Split uvula. (c) Unilateral cleft of the secondary palate (posterior cleft palate). (d) Bilateral cleft palate. (e) Complete unilateral cleft of the lip, the maxillary process and cleft between the primary and secondary palate. (f) Complete bilateral cleft of lip and maxillary process with continuation between the primary and secondary palate. (g) Complete bilateral cleft lip, cleft between primary and secondary palate and unilateral cleft of the secondary palate. (h) Complete bilateral cleft lip, cleft between primary and secondary palate and bilateral cleft of posterior palate (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig13_HTML.png

Fig. 1.13

Rare congenital anomalies of the face: (a) Median cleft of the upper lip. (b) Median cleft of the lower lip. (c) Bilateral oblique facial clefts and complete bilateral cleft lip. (d) Macrostomia. (e) Microstomia and singular nostril. (f) Split nose and incomplete cleft lip (from Moore and Persaud 2003, courtesy of Elsevier)

A split palate may occur solely or combined with a cleft lip. The cleft may be limited to the uvula but may extend across the soft and hard palate. The reason lies in an insufficient generation of mesenchyme, resulting in a disturbed fusion of the lateral maxillary shelves with the nasal septum and the posterior edge of the primary palate.

1.2.1.2 Pharyngeal Arches, Clefts and Pouches

During early development, five pharyngeal (branchial) arches are generated, which appear as bar-like ridges on the ventrolateral surface of the head and neck region. They are covered by ectoderm and are separated from each other by invaginations called pharyngeal clefts. The pharyngeal clefts have counterparts on the interior in the form of endoderm-lined pharyngeal pouches. Ectoderm and endoderm are isolated by a mesodermal core. Pharyngeal membranes separate the clefts from the pouches (Graham 2001).

The pharyngeal arches are numbered 1, 2, 3, 4 and 6; they develop in cranio-caudal sequence with the first pair appearing on day 22, the second and third pairs on day 24 and the fourth and sixth pairs on day 29. Each pharyngeal arch contains an arch cartilage, an arch artery, a mesodermal component as precursor for muscles and a specific cranial nerve.

The first branchial arch is divided into a maxillary and a mandibular process; the former develops to the palatopterygoquadrate bar cartilage, which will become the greater wing of the sphenoid and the incus; the latter contains Meckel’s cartilage, a precursor of the malleus and the fibrous core of the mandible. The jaws mainly consist of membrane bones formed by direct ossification; the maxillary process gives rise to the upper jaw, the maxilla, the zygomatic and the temporal squama, and the mandibular process generates the lower jaw.

The second arch cartilage, Reichert’s cartilage, forms the stapes, styloid process, stylohyoid ligament and parts of the hyoid. The third arch cartilage also contributes to the hyoid; the fourth and sixth arch cartilages form the larynx; and the epiglottis arises in the location of the fourth arch (Fig. 1.14).

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig14_HTML.png

Fig. 1.14

Branchial arches, their innervation by cranial nerves and the definitive structures to which they develop (from Moore and Persaud 2003, courtesy of Elsevier)

The first arch is innervated by the trigeminal nerve, the maxillary swelling by V2 and the mandibular swelling by V3. The second arch is innervated by the facial nerve (VII), the third arch is innervated by the glossopharyngeal nerve (IX), the fourth arch is innervated by the superior branch and the sixth arch is innervated by the recurrent laryngeal branch of the vagus nerve (X).

The following Table 1.1 summarises the derivatives of the five pharyngeal arches:

Table 1.1

Branchial arches and their derivatives

1.2.1.3 Development of the Larynx

Normal Development (Fig. 1.15)

The respiratory system is an outgrowth of the primitive pharynx. Between the 20th and the 26th days of gestation, a ventral laryngotracheal groove in the primitive foregut differentiates into the laryngeal sulcus and the respiratory primordium. The tracheo-oesophageal folds between these tubular hollows later fuse to form the tracheoesophageal septum, separating the laryngotracheal groove from the foregut. From now on the foregut is divided into the ventral laryngotracheal tube and the dorsal oesophagus.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig15_HTML.png

Fig. 1.15

Stages of laryngeal development. (a) Week 4. (b) Week 5. (c) Week 6. (d) Week 10 (from Moore and Persaud 2003, courtesy of Elsevier)

The larynx develops from the fourth and sixth branchial arches. The laryngotracheal opening lies between these two arches. The internal lining of the larynx originates from endoderm, whereas cartilages and muscles emanate from mesenchyme. The mesenchyme proliferates rapidly, and the sagittal slit of the laryngeal orifice changes into a T-shaped opening by the growth of three tissue masses: one is the hypobranchial eminence, which later becomes the epiglottis. The second and third growths are two arytenoid precursors. They grow between the fifth and seventh week, resulting in a temporary occlusion of the lumen. Recanalisation occurs by the tenth week and produces a pair of lateral recesses, the laryngeal ventricles that are bounded by folds of tissue that differentiate into the false and true vocal cords. Failure to recanalise may result in atresia, stenosis or web formation in the larynx.

The development of the larynx begins with the appearance of the mesenchymal-arytenoid swellings from the sixth branchial arches on the 32nd day of gestation on both sides of the opening of the laryngotracheal tube. These swellings approach each other in the midline and converge at the caudal end of the hypobranchial eminence to convert the vertical laryngotracheal opening into a T-shaped aditus. Midline compression of the tube by these swellings results in the fusion of the epithelial lamina, thereby closing the tube from the pharynx. If the closing does not occur, a posterior laryngeal cleft can result leading to severe aspiration in the newborn. The arytenoid swellings differentiate into the arytenoid and corniculate cartilages and the primitive aryepiglottal folds.

The epiglottal and cuneiform cartilages are formed by the hypobranchial eminence. Chondrification of both fourth branchial arches gives rise to the thyroid cartilage, whereas the cricoid cartilage derives from the chondral tissue of the sixth branchial arch. The laryngeal lumen obliterates to give rise to the epithelial lamina. The larynx recanalises by the tenth week of gestation.

The intrinsic muscles have gained their shapes and positions by the 40th day of gestation, and by the end of the eighth week, all components of the larynx are present including innervation and blood supply.

During the foetal period, the vocal processes develop from the arytenoids, and the thyroid cartilage laminae fuse in the midline. The epiglottal cartilage matures between the fifth and seventh months. During this period, the corniculate and cuneiform cartilages become evident. The foetal period ends with the cricoid cartilage changing from interstitial to perichondrial growth.

Malformations of the Larynx (Figs. 1.16, 1.17 and 1.18)

From the location of laryngeal malformations (Sidrah et al. 2007), one discriminates between supraglottal, glottal and subglottal anomalies.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig16_HTML.jpg

Fig. 1.16

Laryngomalacia: (a) anterior prolapse. (b) Posterior prolapse (from Rutter and Dickson 2014, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig17a_HTML.png../images/307062_1_En_1_Chapter/307062_1_En_1_Fig17b_HTML.jpg

Fig. 1.17

(a) Differences between laryngoceles (b–d) and saccular cysts (e, f) (from Rutter and Dickson 2014, courtesy of Elsevier)Fig. 1.17 (b) Computerised tomographic view of a patient with combined laryngocele. Prof. Dr. Haldun Oguz, personal archive photo, with permission

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig18_HTML.jpg

Fig. 1.18

Four types of laryngeal cleft: supraglottal interarytenoid cleft, partial cricoid cleft, total cricoid cleft and laryngo-oesophageal cleft (from left to right) (from Rutter and Dickson 2014, courtesy of Elsevier)

The most abundant congenital anomaly of the larynx is the laryngomalacia, accounting for more than a half of all cases (Ahmad and Soliman 2007). The ratio between males and females is about 2:1. It is classified as Type 1, Type 2 or Type 3 on the basis of patterns of supraglottal collapse. In Type 1 laryngomalacia, redundant supraglottal mucosa prolapses; Type 2 is characterised by shortened aryepiglottic folds; and Type 3 displays posterior displacement of the epiglottis coincident with a deformation, due to an imbalance in its development. The epiglottis develops from the cartilages of the third and fourth branchial arches, and an overgrowth of the third arch portion results in an omega-shaped organ. In addition, an arytenoid prolapse may result from immature neuromuscular control.

The second-most common congenital laryngeal disorder, in about 15–20% of all congenital anomalies, affects vocal fold movement. It may occur unilaterally or, less frequently, bilaterally. Unilateral paralysis is usually idiopathic but may be secondary to peripheral nerve pathology. Strain injuries to the recurrent laryngeal nerve during birth may be one of the causes.

The glottal sulcus (or sulcus vocalis) is characterised by dysphonia due to hampered movement of the mucous membrane, absence of Reinke’s space and adhesion of the epithelium to the vocal ligament or the vocal muscle itself.

The congenital subglottal stenosis takes third place in laryngeal anomalies with approximately 15% of the cases, twice as often in boys than in girls. It may be subdivided into two types, the more abundant is membranous congenital subglottal stenosis, due to submucosal hypertrophy. The second, cartilaginous congenital subglottal stenosis, results from an abnormal growth of the cricoid cartilage.

Subglottal haemangioma accounts for 1.5% of congenital anomalies of the larynx, in girls twice as often than in boys. It results from a malformation of the mesenchymal vascular precursors.

Laryngoceles are rare congenital anomalies of the supraglottal larynx. They form as a result of air- or fluid-filled dilations of the laryngeal ventricle communicating with the laryngeal lumen. They may occur internally or externally or both.

About 25% of all laryngeal cysts are saccular cysts. In contrast to the laryngoceles, they do not communicate with the laryngeal lumen.

Laryngeal webs are rare congenital anomalies. They are due to an incomplete recanalisation of the laryngotracheal tube, which occurs in the third month of gestation. They appear mostly at the anterior level of the vocal folds.

Laryngeal or laryngotracheo-oesophageal clefts are posterior fusion defects between the airway and oesophagus during embryogenesis. These clefts may be minor and short or may even extend beyond the carina. They are classified according to their anatomical extent.

Laryngeal atresia is considered to be the rarest of the congenital anomalies of the larynx. It occurs when the recanalisation of the laryngotracheal tube during the third month of gestation fails.

1.2.1.4 Tongue Development

Normal Development (Figs. 1.19, 1.20 and 1.21)

Tongue development starts with a triangular elevation in the floor of the first pharyngeal arch during the end of the fourth week of gestation, which is called the median tongue bud (tuberculum impar). A pair of mesenchymal swellings in the ventromedial areas of the first pharyngeal arch forms the distal tongue buds (lateral lingual swellings) on either side of the tongue. They are covered by epithelium of ectodermal origin, overgrow the median tongue bud and fuse medially to form the midline sulcus. Sensory innervation of this part is by the lingual branch of the mandibular division of the trigeminal nerve, the nerve of the first pharyngeal arch.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig19_HTML.png

Fig. 1.19

Tongue development, early phase from the fourth week on (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig20_HTML.png

Fig. 1.20

Tongue development, later stage, fourth to fifth month (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig21_HTML.png

Fig. 1.21

Adult tongue, indicating the derivatives of the branchial arches (from Moore and Persaud 2003, courtesy of Elsevier)

Behind the foramen cecum, the second pharyngeal arch develops the copula in the midline. A second elevation, arising from the third and partly the fourth pharyngeal arch, forms the hypobranchial eminence, which will become the pharyngeal part of the tongue.

The copula is overgrown by the hypobranchial eminence in the fifth and sixth week. It will fuse anteriorly with the distal tongue buds, thereby creating the terminal sulcus.

The median and pharyngeal sections of the organ then become joined at the terminal sulcus. This posterior compartment of the tongue is innervated by the glossopharyngeal nerve, the nerve of the third pharyngeal arch, whereas the chorda tympani from the cranial nerve VII supplies the taste buds on the anterior two thirds. The growing tongue extends out into the oral cavity; its anterior part is covered by a layer of ectodermal epithelium. In contrast, the root of the tongue is covered with endodermal epithelium.

So far, only the epithelial and mucosal tissues of the tongue have been considered, which develop from the four pharyngeal swellings as described above. The muscular compartment of the tongue descends from myoblasts that differentiate after migrating from the myotomes of the occipital cervical somites. Following these myoblasts is the hypoglossal nerve, which generates the nerve supply for the tongue musculature.

Tongue Abnormalities

The tongue may vary in its size from microglossia, an abnormal smallness of the tongue, which occurs very rarely, to macroglossia, a more abundant phenomenon, which means that the tongue is extraordinarily large.

Ankyloglossia affects the frenulum of the tongue; it develops short and thick and fixes the tongue to the floor of the mouth (tongue-tied) or at least restricts the movement of the tongue.

A cleft or bifid tongue has a cleft running vertically right across it. Complete clefting is extremely rare and occurs as a result of lack of developmental forces that push both halves of the tongue towards each other. Partial clefting presents as a deep groove in the middle of the tongue.

When the two lateral parts of the tongue fail to overgrowth the tuberculum impar, a bald patch will appear in the centre of the tongue, known as medial rhomboid glossitis.

1.2.1.5 Development of the Ear

Inner Ear, Normal Development (Figs. 1.22 and 1.23)

In the third week of embryonic development, the ectoderm on both sides of the rhombencephalon (hindbrain) begins to thicken and form the otic placodes. They shift caudally to the level of the second pharyngeal arch and invaginate during the fourth week to form the otic pits. The pits separate from the surface to form the otic vesicles, which are the precursors of the membranous labyrinth.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig22_HTML.png

Fig. 1.22

Development of the ear: week 4, 5 (top left, right) and two later stages (bottom left, right) (from Moore and Persaud 2003, courtesy of Elsevier)

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig23_HTML.jpg

Fig. 1.23

Development of the otic vesicle, weeks 5–8 (from Moore and Persaud 2003, courtesy of Elsevier)

Each otic vesicle differentiates into three parts: a dorsomedial, elongated endolymphatic extension, origin of the endolymphatic duct and, at its distal end, the endolymphatic sac; a central partition, which will expand to form the utricle and the three semicircular ducts, arising from utricular diverticula; and a ventral, conical saccular region, which forms the saccule and the cochlear duct, as well as the ductus reuniens joining the saccule and cochlear duct. The duct elongates in the fifth week and starts to coil, with the spiral organ of Corti differentiating in the seventh week. By this time, the organ of Corti is innervated by the cochlear ganglion, which will elongate and wind up together with the organ of Corti.

At the end of the ninth month, the auricular pathway is completed; myelinisation, however, has not taken place, and axo-dendritic synapses are not yet established.

Malformations of the Inner Ear

Malformations in otic vesicle development result in anomalies of the membranous labyrinth and its bony envelope as well. In descending order of intensity and time course of appearance during development, they are complete labyrinthine aplasia; cochlear aplasia; common cavity (single cystic cavity of coalesced cochlea and vestibulum); cochlear hypoplasia; incomplete partition Type I, II or III; and enlargement of the vestibular or cochlear aqueduct.

Tympanic Cavity, Normal Development

The first pharyngeal pouch elongates to form the tubotympanic recess, which will give rise to the tympanic cavity and the auditory tube. By the seventh week, the auditory ossicles begin to condense within the mesenchyme of the first and second pharyngeal arches, whereas the muscles of the middle ear begin to form in the ninth week. The cartilage of malleus and incus develop within the first pharyngeal arch, and its mesoderm gives rise to the tensor tympani muscle, which will be innervated by the nerve of the first pharyngeal arch, the mandibular nerve (CN V/3). The cartilage of the stapes is formed within the second pharyngeal arch, as well as the stapedius muscle. It is therefore innervated by the facial nerve (CN VII), which is the nerve of the second pharyngeal arch.

The first pharyngeal cleft develops to the external acoustic meatus, and the membrane, separating the first pharyngeal cleft from the first pharyngeal pouch, becomes the tympanic membrane, which consists of three layers: an outer covering of ectoderm, a mesodermal layer (the fibrous stratum) and an inner lining of endoderm.

In the ninth month, the ossicles assume their functional relationships, with the malleus attaching to the eardrum and the stapes attaching to the oval window. Sound vibrations can now be transmitted from the eardrum to the cochlea via the ossicles and oval window and then transduced into neural impulses via the organ of Corti.

Malformations of the Middle Ear

The close relationship of the external ear canal and the tympanic cavity gave rise to the classification of a common malformation termed atresia auris congenita:

First-degree malformations are characterised by moderate deformations of the external ear canal, a normal or slightly hypoplastic tympanic cavity, deformed ossicles and normal pneumatisation of the mastoid.

The second-degree malformation exhibits intermediate deformities including an absence of the external ear canal or its blind ending, a narrow tympanic cavity, deformations and fixations of the ossicles and reduced mastoid pneumatisation.

Third-degree malformations include the absence of an external ear canal, hypoplastic tympanic cavity, severely deformed ossicles and a failure in mastoid pneumatisation.

External Ear, Normal Development (Fig. 1.24)

Each of the adjacent ectodermal parts of the first and second pharyngeal arches differentiates into three auricular hillocks. They arise in the fifth week. In the seventh week, the auricular hillocks begin to enlarge, differentiate and fuse, producing the final shape of the ear, which is gradually translocated from the side of the neck to a more cranial and lateral site. The first pharyngeal arch gives rise to the tragus, the helix and the cymba conchae; the second pharyngeal arch forms the antitragus, the antihelix and the concha.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig24_HTML.jpg

Fig. 1.24

Development of the external ear (from Paulsen et al. 2010, courtesy of Elsevier)

Anomalies of the External Ear

Malformations of the external ear have their causes in an inaccurate development of a single or a combination of several auricular hillocks. They result in deformities of three grades of severity: dysplasia grade I represents only a slight deformation, most elements of a normal pinna are present. Moderate deformations are summarised in dysplasia grade II. Only some structures of a normal ear are identifiable. Dysplasia grade III is characterised by severe deformations. Nothing of a normal pinna is recognisable.

Malformations may be further classified according to the size of the auricle (macrotia, microtia, anotia), the shape of the ear (cup-shaped, lop ear, ear dysplasia, elfin (pointed) ear, lobe malformations), the position of the ears (melotia, low set ears, synotia) and other malformations such as auricular fistulas or appendages.

1.2.2 Anatomy

1.2.2.1 The Palate

The hard palate is generated by two types of bone, which are covered by a mucous membrane: the palatine processes of the maxillae and the horizontal parts of the palatine bones (Fig. 1.25). These bones continue into the soft palate, which contains a membranous aponeurosis. The soft palate, also called velum palatinum, is a movable, fibromuscular fold that is attached to the posterior edge of the hard palate. It separates the superior nasopharynx from the inferior oropharynx. Laterally, the soft palate is continuous with the wall of the pharynx and is joined to the tongue and pharynx by the palatoglossal and palatopharyngeal folds.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig25_HTML.png

Fig. 1.25

Aspect of the mouth and palate (from Paulsen et al. 2010, courtesy of Elsevier)

The components are as follows:

The levator veli palatini, extending from the cartilage of the auditory tube and petrous part of temporal bone to the palatine aponeurosis. It elevates the soft palate, drawing it superiorly and posteriorly and also opens the auditory tube to regulate air pressure in the middle ear. It is innervated by a pharyngeal branch of the vagus via the pharyngeal plexus.

The tensor veli palatini arises from the scaphoid fossa of the medial pterygoid plate, spine of sphenoid bone and cartilage of auditory tube to the palatine aponeurosis. It tenses the soft palate by using the hamulus as a pulley. It also acts on the membranous portion of the auditory tube in the same sense as the levator muscle. Innervation is through the medial pterygoid nerve (a branch of the mandibular nerve).

The musculus uvulae, which emanates at the posterior nasal spine and palatine aponeurosis and inserts into the mucosa of uvula. When the muscle contracts, it shortens the uvula and pulls it upwards. The pharyngeal branch of vagus innervates the muscle via the pharyngeal plexus.

The palatoglossus muscle between the palatine aponeurosis and the side of tongue. The mucous membrane covering the muscle forms the palatoglossal arch. The muscle elevates the posterior part of the tongue and draws the soft palate downwards onto the tongue.

The palatopharyngeus muscle, extending from the hard palate and palatine aponeurosis to the lateral wall of pharynx. Its mucous membrane forms the palatopharyngeal arch. The muscle tenses the soft palate and pulls the walls of the pharynx upwards, forwards and medially during swallowing. Both muscles are supplied by the cranial part of accessory nerve (CN XI) joining with the pharyngeal branch of vagus via the pharyngeal plexus.

The sensory nerves of the palate, which are branches of the pterygopalatine ganglion, are the greater (major) and lesser (minor) palatine nerves (Fig. 1.26). They accompany the arteries through the greater and lesser palatine foramina, respectively.

../images/307062_1_En_1_Chapter/307062_1_En_1_Fig26_HTML.jpg

Fig. 1.26

Sensory innervation of the soft palate

The palate has an abundant blood supply from branches of the maxillary artery.

1.2.2.2 The Pharynx

The pharynx is a fibromuscular tube that spans vertically from the base of the skull to the oesophagus. Being