Phoniatrics I pp 155-190 | Cite as

Basics of Related Medical Disciplines

  • Hanno J. BolzEmail author
  • Tiemo Grimm
  • Gereon Heuft
  • Christian Postert
  • Georg Romer
  • Eva Seemanova
  • Esther Strittmatter
  • Dagmar Weise
  • Klaus Zerres
Part of the European Manual of Medicine book series (EUROMANUAL)


By using the example of hearing loss, an overview is given on genetics, new diagnostic developments and their applications. Owing to novel high-throughput technologies of DNA sequencing, most patients now can get a genetic diagnosis for several reasons, in the routine workup after failed newborn hearing screening but also in cases of hearing loss manifesting later in life.

Patients request advice or are referred by their physicians for genetic counselling in order to understand biological facts, medical implications and recurrence risks of genetic diseases. The basics of genetic counselling are presented.

Neuropediatric diagnostic and differential diagnostic principles are defined. Test procedures such as electroencephalography, visually evoked and somatosensory evoked potentials, motor electroneurography, laboratory studies and further diagnostic tools, as well as therapeutic options, are explained on the basis of case studies.

Possible somato-psychological complications in people who developed psychological symptoms while coping with their physical illness are discussed. Psychosomatic interaction in those patients who had already suffered from a psychological disorder before the start of their somatic disease is explained. Dissociative movement disorders (psychogenic aphonia) and dissociative sensory disturbances (psychogenic deafness) are presented. Case studies illustrate typical psychosomatic disease patterns. Concrete information is given on specific doctor-patient dynamics.

Problems in hearing and speech/language development may be caused by psychiatric diseases. Some of the more relevant psychiatric disorders in childhood and adolescence such as attention-deficit/hyperactivity disorder, autism spectrum and pervasive developmental disorders and selective mutism are presented by case studies, and current knowledge in diagnostics, differential diagnostics and therapeutic options is defined.


Genetics Neuropediatrics Psychosomatic medicine Child and adolescent psychiatry 


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Copyright information

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

Authors and Affiliations

  • Hanno J. Bolz
    • 1
    Email author
  • Tiemo Grimm
    • 2
  • Gereon Heuft
    • 3
  • Christian Postert
    • 4
  • Georg Romer
    • 5
  • Eva Seemanova
    • 6
  • Esther Strittmatter
    • 7
  • Dagmar Weise
    • 8
  • Klaus Zerres
    • 9
  1. 1.Senckenberg Centre for Human GeneticsFrankfurt am MainGermany
  2. 2.Department of Human Genetics, BiocenterUniversity of WürzburgWürzburgGermany
  3. 3.Department of Psychosomatics and PsychotherapyUniversity Clinic MünsterMünsterGermany
  4. 4.Department of Applied Health SciencesUniversity of Applied Health ScienceBochumGermany
  5. 5.Klinik für Kinder- und Jugendpsychiatrie, -psychosomatik und –psychotherapieUniveritätsklinikum MünsterMünsterGermany
  6. 6.Department of Child Neurology2nd Medical School of Charles University PraguePragueCzech Republic
  7. 7.Health Care Centre Walstedde Day HospitalDrensteinfurtGermany
  8. 8.Abteilung NeuropädiatrieUniversitätsmedizin GöttingenGöttingenGermany
  9. 9.Institute of Human GeneticsUniversity Clinic RWTH AachenAachenGermany

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