Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome).

Patient: Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: -

Medication: - Clinical Procedure: - Specialty: Otolaryngology.

Objective: Congenital defects.

Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13).

[Methods of larynx phoniatory function measurement in the Poznań University Department of Ear, Throat, Nose and Larynx Diseases between 1922 and 1939].

Introduction: Indirect laryngoscopy development and progress initiated in 1854 by the autolaryngoscopy of the famous singing voice teacher Manuel Garcia in ENT speciality is connected with the names of L. Tuerck and J.N.

[The progress in the rehabilitation of dysarthria in Parkinson disease using LSVT (Lee Silverman Voice Treatment)].

Parkison's disease causes damage to the central nervous system resulting in bradykinesia, muscle rigidity, rest tremor and dysarthric speech. In clinical terms dysarthria denotes the dysfunction of articulation, phonation and respiration. It is brought about by the impairment of neural paths innervating the speech apparatus, thus causing a decreased ability to communicate.

[Tinnitus as the first symptom of Arnold-Chiari-Syndrome].

The Arnold-Chiari malformation is very rare hindbrain abnormalities characterized by herniation of the hindbrain through the foramen magnum. It usually does not present until adulthood, and then its symptoms may be varied and subtle. Patient 49 years was diagnosed in Foniatrics and Audiology Clinic because of tinnitus in left ear lasting 3 months.

[Further research on speech tests].

Introduction: The purpose of speech audiometry is to extend the diagnostics of central auditory processes. First audiometric tests were monaural tests introduced in the fifties by Bocca and Calearo to diagnose Central Auditory Processing Disorders (CAPD). Monaural tests are characterized by low redundancy, which allows for deciphering a given word or phrase only if the amount of accessible information exceeds a required minimum.

[Bilateral internal laryngocele with open nasality--report of a case].

Laryngocele is an abnormal saccule dilatation of the ventricle in direct communication with the laryngeal lumen. It is usually filled by air and mostly asymptomatic. This case is reported due to its rarity.

[Polish language dychotomic tests for speech audiometry Part 2: A study of people with normal hearing from various age groups].

Introduction: Evaluation of the objective results in the clinical examination of central auditory disorders requires the use of reliable language tests which provide the means for the estimation of patients' audio-verbal communicative skills.

Materials And Methods: The authors present a new set of more difficult language tests in Polish, including a filtered speech test, numeral and verbal dichotic tests and the normal Calearo test. The tests were evaluated on a group of people with good hearing from various age groups.

[Subjective assessment of voice functions among teachers taking part in the rehabilitation program].

Introduction: In daily phoniatric practice, apart from laryngoscopy, another simple and useful method of examining the voice organ is perceptual voice assessment based on the GRBAS scale. An extension to this examination can be the Voice Handicap Index test (VHI).

Materials And Methods: 79 female teachers taking part in a 7-week-long rehabilitation course on voice emission techniques.

[Dychotomic tests in Polish for speech audiometry part 1: preparing material for the tests].

Introduction: Dychotomic tests in speech audiometry are extremely beneficial, especially in diagnosing central auditory processing disorders.

Materials And Methods: Basing on new articulatory lists (NLA-93), the authors have prepared a new set of language tests, including filtered speech test, numeral and verbal dichotic tests and Calearo test.

Conclusions: The phonetic characteristics of the tests are presented, with special attention paid to their phonetic balance.

[Bone anchored hearing aids (BAHA) used for treatment of conductive hypoacusis--current problems in Poland].

Basic principles, indications and limitations of BAHA implantation as well as different kinds of operation techniques are presented. The beginning and the development of BAHA use in Poland are mentioned together with some difficulties in broadening of this kind of implantation.

[The changes in the distinctness and discrimination of phonems of cochlear implants children].

Hearing impaired children do not develop oral speech in the same time with the hearing ones. Cochlear implants may change this situation. Implanted deaf children may develop oral speech but only after long speech rehabilitation.

[The auditory late potentials (P300, MMN) in central speech disorders in children].

The aim of this paper was introduction of preliminary study of late auditory evoked potentials P300 and MMN insome central communication process disorders. The investigations were performed in the group of three children with development dysphasia and pseudobulbar dyzarthria. The registration of endogenic late cognitive potentials was performed using the alternate application of stimulus of pure tones 1 and 2 kHz, and logatoms (da)-(ga).

[Complex voice assessment--Polish version of the Voice Handicap Index (VHI)].

The aim of this work was to present own modification of Jacobson's The Voice Handicap Index, the self-estimation scale of the voice as a one part of the complex voice evaluation. The VHI contains three groups of questions of physical, emotional and functional subscales, which specify complaints during phonation scored in 4 points (0-4). The presented our own modification of the VHI may be useful in everyday clinical practice.

[Poznań's program of cochlear implantation: 10 years experience].

The first cochlear implant in the ENT Department in Poznań was introduced in adult patient in January 1994. One year later the first deaf child was implanted. During 10 years over 200 deaf people were operated on.

[Parry-Romberg syndrome: communication disorders in a 12-year old boy].

A case of a 12-year-old boy with Parry-Romberg syndrome was presented. Speech and hearing disorders impairing communicative process and abnormalities in the ENT examination, ultrasonography of parotid salivary glands, radiological changes of sella turcica were particularly considered.

[The correlation between subjective and objective voice evaluation in organic and functional larynx disorders].

The aim of this research is to develop and introduce into phoniatric diagnostic procedures the complex methodology of vocal function assessment, on the basis of comparison of subjective and objective voice estimation. The set of complex voice evaluation ought to include perceptual examination of the voice quality with quantitative GRBAS scale as a subjective method, vocal folds vibrations in videostroboscopy as a quasi-objective method and acoustic voice estimation in Multi Dimensional Voice Program (MDVP) as an objective method. The basic assumption of this report is to prove correlation existence for vocal folds vibration quality in videostroboscopy, parameters describing acoustic wave generating by vibration system in larynx (MDVP) and perceptual subjective voice assessment (GRBAS scale) in organic and functional voice disorders.

[Enlarged vestibular aqueduct syndrome in patients with hypoacusis and deafness].

Unlabelled: In 1978 Valvassori and Clemis have reported that enlarged vestibular aqueduct can cause progressive perceptive hearing loss and finally deafness.

Aim: Analysis of CT scans of patients with cochlear implants. Analysis of radiological data of 120 implanted patients was performed.

[Usefulness of TAPS (Polish version) for evaluation of CI children's progress in speech rehabilitation--7 years of observation].

The speech rehabilitation of pre- and perilingually deafened children with cochlear implants it is a very long process. It should be individualized for needs of every young patient. It is possible only after correct evaluation of speech level.

[Distinctness and discrimination of phonemes in children with cochlear implants--preliminary report].

There are many tests prepared for speech evaluation for different age groups and with any disabilities. The percent of correct repeated mono- or bisyllabes words create the final result. Sometimes this score is lower than real oral communication skill of CI patient.

Poznań's program of cochlear and brainstem implantation: a general review.

The cochlear implantation program in Poznań started in January 1994. Within 8 years, 151 patients were implanted (149 cochlear and 2 auditory brain-stem implants). The implanted group comprised 111 children and 40 adults.

[Olfaction in congenital hypothyroidism].

The aim of the study is to present results of the olfactory testing in congenital hypothyroidism in the group of 20 subjects. The etiology of hypothyroidism included: Pendred's syndrome in 2 cases, hypoplasia in 2 cases, athyreosis in 5 cases and ectopy of thyroid gland in 11 cases. Olfactory testing involved olfactometry by Elsberg-Levy modified by Pruszewicz for 4 odorants: coffee, lemon, mint and anise; smell fatigability test by Pruszewicz et al.

[Selected marketing aspects in the hearing aids fitting and their distribution].

The developing of free market in Poland gives medical firms of opportunities but also necessity of adoption for more and more individual needs of customers. This article presents some aspects of marketing on the hearing aids market. The conclusions are based on long observation and empirical research.