The new Mainz speech test for children 3-7 years old (MATCH) : Design, standardization, and validation.

OBJECTIVE: To develop a new, German, age-appropriate speech audiometry test for children, by using 26 nouns that are most likely part of the lexicon of 2-year-olds. The test is a picture-pointing task with a four-option non-forced choice method. MATERIALS AND METHODS: In total, 179 children aged 2;11 to 6;9 y were included for standardizing and validating the speech test. Of these, 51 had a hearing impairment in both ears ranging up to 90 dB hearing level (HL). The normal-hearing collective was divided into three groups according to age. For each group, the speech reception threshold (SRT) and the slope of the psychometric function of intelligibility were determined. For validation, the test-retest reliability was measured in 85 ears, and the correlation between the pure tone average (PTA) at 0.5, 1, 2, and 4 kHz and the SRT was measured in 86 ears. RESULTS: The sound spectrum of the 26 items was in good accordance with the international long-term speech spectrum, and the relative frequency of phonemes matched the distribution of the 50 more frequent German phonemes. The SRTs ranged from 24.6 ± 0.6 dB sound pressure level (SPL) for the oldest group (> 5.5 y) to 29.3 ± 1.3 dB SPL for the youngest group (< 4.25 y). The slopes of the psychometric function ranged from 4.3 ± 0.5%/dB for the oldest group to 2.6 ± 0.4%/dB for the youngest. The test and retest showed good correlation (r  = 0.89, p < 0.0001) as did the PTA and SRT (r = 0.84, p < 0.0001). CONCLUSION: The newly developed Mainz speech-test effectively measures age-related speech perception from the age of three years.

[The new Mainz speech test for children aged 3-7 years (MATCH) : Design, standardization, and validation. German version]. / Der neue Mainzer Sprachtest für Kinder 3­7 Jahre (MATCH) : Design, Normierung und Validierung.

OBJECTIVE: A new German speech audiometry test was developed using 26 nouns that are most likely part of the lexicon of 2­year-old children. The test was a picture-pointing task using a four-alternative non-forced choice method. MATERIALS AND METHODS: In total, 179 children aged 2 years 11 months to 6 years 9 months were included to standardize and validate the speech test. Of these children, 51 had a hearing impairment in both ears ranging up to 90 dB hearing level. The normal-hearing collective was divided into three groups according to age. For each group, the speech reception threshold (SRT) and the slope of the psychometric function of intelligibility were determined. For validation, the test-retest reliability was measured in 85 ears and the correlation between the pure-tone average (PTA) at 0.5, 1, 2, and 4 kHz and the SRT was determined in 86 ears. RESULTS: The sound spectrum of the 26 items was in good accordance with the international long-term speech spectrum and with the distribution of the 50 most frequent German phonemes. The SRT ranged from 24.6 ± 0.6 dB sound pressure level (SPL) for the oldest group (>5.5 years) to 29.3 ± 1.3 dB SPL for the youngest group (<4.25 years). The slopes of the psychometric function ranged from 4.3 ± 0.5%/dB for the oldest group to 2.6 ± 0.4%/dB for the youngest group. The test and retest showed good correlation (r = 0.89, p < 0.0001), as did the PTA and SRT (r = 0.84, p < 0.0001). CONCLUSION: The newly developed test effectively measures age-related speech perception from the age of 2 years 11 months.

Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses.

OBJECTIVE: This study aimed to: assess the mucosal alterations of the larynx and hypopharynx typical for mucopolysaccharidoses, in a standardised manner; compare the severity in different subtypes of mucopolysaccharidoses; and monitor the effect of an enzyme replacement therapy. METHODS: A classification for mucosal alterations of the larynx and hypopharynx was developed and utilised in 55 patients with mucopolysaccharidoses. Fifteen patients who started treatment with enzyme replacement therapy were followed longitudinally. RESULTS: The most severe alterations were seen in the posterior region of the larynx and the arytenoids, and in the region of the false vocal folds. The alterations were most severe in patients with mucopolysaccharidosis II. No clear trend was observed in the patients who received enzyme replacement therapy. CONCLUSION: Quantification of mucosal alterations of the hypopharynx and larynx in mucopolysaccharidoses patients can provide information about the disease's natural process and about the efficacy of enzyme replacement therapy.

[Diagnostic Accuracy of the LiSe-DaZ for Children with Specific Language Impairment]. / Diagnostische Zuverlässigkeit des LiSe-DaZ bei Kindern mit schwerer Sprachentwicklungsstörung.

OBJECTIVE: Currently, only few tests for the development of speech and language exist for bi- or multilingual children in Germany. One of those, the LiSe-DaZ (Linguistic performance measurement - German as a second language), was examined in a prospective study regarding its practicability and the sensitivity to detect children with specific language impairment in a group of children aged 5 to 7 who suffered from a severe language impairment according to clinical tests. MATERIAL AND METHODS: 74 children (mean age: 60 months; 46% monolingual German-speaking; 54% bi- or multilingual) with severe specific language impairment were examined with the LiSe-DaZ in addition to the clinical established diagnostic during their in-patient stay in the hospital. RESULTS: The children, on average, showed in the receptive language abilities (LiSe-DaZ vs. TROG-D), the expressive vocabulary (LiSe-DaZ vs. AWST-R or WWT) and in the use of prepositions (LiSe-DaZ vs. Ravensburger Dysgrammatical clinical trial) significantly (p<0,0005) better results in the LiSe-DaZ. Thus, the majority of children were diagnosed as language impaired by clinically established tests whereas the LiSe-DaZ considered the children's language development to be normal. This difference was consistently more prominent for children with German as a second language. CONCLUSIONS: Compared with the clinically established tests, the informative value of the LiSe-DaZ turned out to be insufficient. The LiSe-DaZ does not detect children with the need of language therapy. Nevertheless, a norming of the established speech tests for bi- or multilingual children would be desirable to avoid unfounded judgements.

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paternal grandfather; however, this does not exclude its involvement in disease pathogenesis, for example, by unmasking a second mutation. Breakpoint analysis via FISH with BAC clones and long-range PCR products revealed a disruption of the arginyltransferase 1 (ATE1) gene on translocation chromosome 10 and the solute carrier family 12, member 1 gene (SLC12A1) on translocation chromosome 15. SNP array analysis revealed neither loss nor gain of chromosomal regions in the affected child, and a targeted gene enrichment panel consisting of 130 known deafness genes was negative for pathogenic mutations. The expression patterns in zebrafish and humans did not provide evidence for ear-specific functions of the ATE1 and SLC12A1 genes. Sanger sequencing of the 2 genes in the boy and 180 GJB2 mutation-negative hearing-impaired individuals did not detect homozygous or compound heterozygous pathogenic mutations. Our study demonstrates the many difficulties in unraveling the molecular causes of a heterogeneous phenotype. We cannot directly implicate disruption of ATE1 and/or SLC12A1 to the abnormal hearing phenotype; however, mutations in these genes may have a role in polygenic or multifactorial forms of hearing impairment. On the other hand, it is conceivable that our patient carries a disease-causing mutation in a so far unidentified deafness gene. Evidently, disruption of ATE1 and/or SLC12A1 gene function alone does not have adverse effects.

[Magnetic resonance imaging in patients with magnetic hearing implants: overview and procedural management]. / Magnetresonanztomographie bei Patienten mit magnetversorgten Hörimplantaten: Überblick und prozedurales Management.

BACKGROUND: Every year in Germany approximately 3,500 patients receive a cochlear implant or other hearing implants with an implantable magnet. At the same time more and more patients are examined by magnetic resonance imaging (MRI). For the indications and execution of this imaging modality a number of restrictions and safety measures have to be considered. METHODS: This article is based on the restrictions of the manufacturers and a selective literature search in PubMed using the following keywords: MRI compatibility/MRI safety + cochlea implant/auditory brainstem implant/Bonebridge/Carina/Esteem/Otomag/Sophono alpha/Vibrand Soundbridge. We included all 20 publications of this search concerning the MRI compatibility of the hearing implants complemented by papers cited in the primary articles. RESULTS: High electromagnetic field intensities as used in MRI can cause malfunction and dislocation of the implant or the magnet in the device. Older cochlear implants (CI) and the current CIs produced by Advanced bionics without explantation of the magnet, some CI models produced by the company Cochlear and the middle ear implants Carina®/Esteem® (older models) and Vibrant-Soundbridge® are not approved for MRI examinations. Other hearing prostheses are approved for 0.2 T, 1.0 T or 1.5 T MRI and in exceptional circumstances 3 T MRI. Recommendations of the manufacturers have to be followed, notably wearing a head bandage during the imaging procedure. The longitudinal axis of the patient's head has to be to positioned parallel to the main magnetic field of the scanner. The patient may not move the head laterally during the examination. Possible artefacts and the reduced validity of the results of skull MRI have to be considered when evaluating the indications for the examination. CONCLUSION: For patients wearing hearing implants with an implantable magnet the indications for MRI in devices with MRI certification should be rigorously restricted. Possible defects/dislocation of the implants may occur and the quality of the skull MRI images is reduced. A close contact between the radiologist and the implanting team is required. Other diagnostic procedure options should be exhausted before employing MRI.

[Symptoms and diagnosis of auditory processing disorder]. / Symptome und Diagnosestellung auditiver Verarbeitungs- und Wahrnehmungsstörungen.

The definition of an auditory processing disorder (APD) is based on impairments of auditory functions. APDs are disturbances in processes central to hearing that cannot be explained by comorbidities such as attention deficit or language comprehension disorders. Symptoms include difficulties in differentiation and identification of changes in time, structure, frequency and intensity of sounds; problems with sound localization and lateralization, as well as poor speech comprehension in adverse listening environments and dichotic situations. According to the German definition of APD (as opposed to central auditory processing disorder, CAPD), peripheral hearing loss or cognitive impairment also exclude APD. The diagnostic methodology comprises auditory function tests and the required diagnosis of exclusion. APD is diagnosed if a patient's performance is two standard deviations below the normal mean in at least two areas of auditory processing. The treatment approach for an APD depends on the patient's particular deficits. Training, compensatory strategies and improvement of the listening conditions can all be effective.

[Hearing disorders in aphasia]. / Hörstörungen bei Aphasie.

Aphasia is an acquired communication disorder that often involves receptive language abilities. After clinical assessment it is often not clear if this is partially due to a hearing loss, which can be compensated by hearing aids facilitating the rehabilitative process.In the present study the hearing ability of 88 male and female patients with aphasia after stroke, all of whom suffered from a left-hemispheric ischemia was assessed in the rehabilitative setting.We found that a majority of patients (72, 82%) was able to perform pure tone audiometry. 15 aphasic patients (21%) showed a hearing loss and were not fitted with hearing aids.Patients with aphasia are due to their central speech disorders in their communication skills limited, so that the therapeutic success is further reduced by an existing hearing loss. Due to the demographic development of our people and with the age increasing prevalence of hearing impairment hearing screening in the post-acute phase in aphasic patients is justified by pure tone audiometry.

[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet]. / Vohwinkel-Syndrom. Schwerhörigkeit und Keratosen an Hand und Fuß

The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). This hereditary autosomal dominant disease is caused by mutation of the GJB2 gene that encodes the protein connexin 26. In our case it was highly likely that the GJB2 gene in the father carried a spontaneous mutation that was inherited by the daughter.

[Does the SETK 3-5 detect clinically diagnosed language impairment?]. / Werden mit dem SETK 3-5 klinisch diagnostizierte Sprachentwicklungsstörungen erfasst?

BACKGROUND: The German language development test for 3- to 5-year-olds (SETK 3-5) as well as its short form, the language screening for pre-school children (SSV), are widely used tests for language impairment in German mother-tongue children. However, data published on validation are sparse. We investigated to what extent those children who demonstrated language impairment in clinical assessment were also detected by the SETK 3-5 and SSV tests. MATERIAL AND METHODS: A group of 201 children aged 4-5 years was tested using the SETK 3-5, in addition to which assessments in phonology, active vocabulary, grammar, receptive language abilities, and the recall of nonsense syllables and sentences were conducted. Correlation analyses were performed and the clinical assessment based on the aforementioned tests was compared to the results of the SETK 3-5 and the SSV. RESULTS: Raw values of the test results were significantly correlated on different levels of correlation. Those of comparable subtests were high. The SETK 3-5 had good specificity but sensitivity of only 71.9%. CONCLUSION: Children with language impairment are not always detected using the SETK 3-5 test. Standardization with a sufficient number of children should be carried out.

[Inpatient language therapy in children with severe specific language impairments]. / Stationäre Sprachtherapie bei Kindern mit schweren spezifischen Sprachentwicklungsstörungen.

BACKGROUND: The present retrospective evaluation study examined treatment efficacy in preschool children with severe specific language impairments. Besides the efficacy of 2 inpatient treatment conditions, differing in periods and intensity of parent advice, will be compared. MATERIAL AND METHODS: 106 children (mean age: 72.1; SD 9.1 months) received 6 weeks of treatment with a traditional therapy en bloc (EB) and 78 children (mean age: 72.3; SD 10.4 months) with a new therapy in 3 intervals (I) respectively. Receptive language abilities, expressive vocabulary size and nonword repetition were utilized as language measures at the beginning and end of treatment. RESULTS: In both treatment conditions, the children, on average, made significant gains in the outcome measures (p<0.0001). En bloc-like interval therapy yielded big effects in receptive language abilities (EB: d=0.89; 95%-CI: 0.72-1.05 vs. I: d=0.95; 95%-CI: 0.71-1.19). Medium effect sizes (EB: d=0.60; 95%-CI: 0.48-0.72; I: d=0.79; 95%-CI: 0.61-0.98) resulted in expressive vocabulary, but rather minor ones in phonological processing (EB: d=0.37; 95%-CI: 0.22-0.52; I: d=0.48; 95%-CI: 0.28-0.67). No significant post-intervention difference between the therapy modes was only observed in receptive language (95%-CI of the difference at the end of treatment: -1.85-5.17). CONCLUSIONS: An intensive multidisciplinary approach with preschool children is justified when the children suffer from severe deficits in language comprehension and expressive vocabulary even after sufficient outpatient treatment.

[Stroboscopy findings: a comparison of flexible CCD-videostroboscopy and rigid stroboscopy]. / Stroboskopie-Befunde: Flexible CCD-Videostroboskopie und klassische Lupenstroboskopie im Vergleich.

OBJECTIVE: After exclusion of morphologic laryngeal alterations by laryngoscopy the prospective study compared stroboscopy findings using a flexible distal charge-coupled device chip-optic (CCD-optic) and a rigid 70° - or 90° -laryngoscope. MATERIAL AND METHODS: 52 patients with functional dysphonia and 47 candidates for speech therapy education were checked with both examination methods. The stroboscopy results were rated randomized and pseudonymized by 3 experts assessed by a study protocol according to the European laryngological society basic protocol 2001. RESULTS: The interrater-reliability was moderate to good. Using the flexible videolaryngoscopy less gaging, less supraglottic contraction during phonation, more often a complete glottal closure and more often a normal mucosal wave movement were found. CONCLUSION: To get an optimal endoscopy result the combination of rigid laryngoscopy and flexible videolaryngoscopy and -stroboscopy will be recommended. Because of the variety of stroboscopic findings for the diagnosis of functional dysphonia additional the case history and functional voice examinations are necessary.

Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.

BACKGROUND: Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural history of Fabry disease and the efficacy of enzyme replacement therapy with agalsidase alpha. METHODS: Signs and symptoms questionnaires were completed for 543 children with Fabry disease. Pure-tone audiograms were obtained from 101 children (53 girls, 48 boys). RESULTS: On questioning, 33% of the children (n = 179) reported subjective hearing impairment. However, when assessed by age-appropriate audiometry, only 19 of 101 patients (19%) had a persistent hearing loss at least one frequency. Of these, 14 had a high-frequency hearing loss, 4 a pan-frequency hearing loss, and 1 a pattern typical of noise-induced loss. Of the 101 children with audiometry, 44 complained of tinnitus. Only 2 children reported sudden hearing loss, which was not verified by audiometry. Children with tinnitus had greater disease severity scores. CONCLUSIONS: Hearing loss is a well-known clinical manifestation in patients with Fabry disease. It was reported in significant numbers of children in the FOS signs and symptoms questionnaire, but confirmed in only 19% by formal audiometry. The subjective hearing impairment may have been due to middle-ear effusions in many cases. Tinnitus is a well-recognized symptom in Fabry disease and can present in childhood. The presence of tinnitus correlated with overall disease severity.

Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.

We present the postnatal diagnosis of a de novo der(18)t(18;22)(p11.32;q11.21)pat, resulting in an unbalanced 45,XX,der (18)t(18;22) karyotype in a girl with conductive hearing loss on the left and ptosis of the right upper eye-lid. Unilateral ptosis was also observed in the patient's 2 years and 8 months younger sister, who grows noticeably faster and appears to be a much quicker learner. After speech therapy the patient was eventually placed in normal school. The haploinsufficient 16.4-Mb region on chromosome 22pter-->q11.21 contains 10 genes as well as many predicted genes, pseudogenes, and retrotransposed sequences with unknown functions. This observation may prove useful for prenatal diagnosis and genetic counselling of chromosome 22q11.1 gains and losses.

[Articulation deficits in children with hearing impairment and children with specific language impairment - a matched-pairs-study]. / Aussprachestörungen bei Kindern mit spezifischen Sprachentwicklungsstörungen und schwerhörigen Kindern im Vergleich1.

BACKGROUND: Children with hearing impairment commonly present with articulation deficits. This is considered one main characteristic. METHODS AND PATIENTS: 24 pairs of children (5;00 - 6;11 yrs) with articulation deficits in the context of a language disorder were matched in the severity of the language disorder, age, gender and nonverbal intelligence. Of each matched pair one child had a hearing impairment, the other a specific language impairment. Both groups were compared for their articulation. In children with hearing impairment the influence of the severity of the hearing loss was evaluated. RESULTS: In both groups the same type of articulation deficit for consonants was found. Both groups of children had most frequently problems with sibilants. Children with specific language impairment had slightly more severe articulation deficits. In unvoiced plosives children with specific language impairment demonstrated more often substitutions. The severity of the language disorder, but not the severity of the articulation deficit, was correlated with the degree of hearing loss. CONCLUSION: Articulation deficits in children with hearing impairment are slightly less than in children with specific language impairment, but follow the same pattern.

[Hearing loss in patients with Fabry disease]. / Hörstörungen bei Morbus Fabry.

BACKGROUND: Fabry disease is an X-linked lysosomal storage disease involving deficient activity of alpha-galactosidase A, which leads initially to pain, and later to renal insufficiency, cardiomyopathy and stroke. Until now few details are available on hearing impairment in patients with Fabry disease, and especially few relating to female patients. PATIENTS AND METHODS: We examined 43 female and 29 male patients. In this study we looked into the question of whether and to what extent patients of both genders are affected by hearing impairment. RESULTS: Hearing loss is characteristic being more severe at high frequencies frequencies. Overall, 22 female and 15 male patients were found to have suffered a hearing loss. Patients with severe symptoms of Fabry disease usually demonstrate more prominent hearing losses. CONCLUSIONS: Both men and women with Fabry disease are affected by hearing impairment. It seems that the hearing loss is less marked in female than in male patients. Children with Fabry disease complain of tinnitus more frequently than other children and quite early in the course of the disease.

[Validated diagnostics for dysgrammatism]. / Validierte Diagnostik des Dysgrammatismus.

BACKGROUND: Non-standardized procedures are used to evaluate, in particular, grammatical performance in most German institutions performing diagnostic procedures on children with impaired speech and language development. This makes a comparison of results difficult. METHODS: We studied 181 boys and 72 girls aged between 5 and 6 years using four subtests of IDIS additionally to the routine procedure. Results were compared to the "degree of dysgrammatism" determined from the traditional evaluation based on expert rating. RESULTS: The new procedure is able to divide the children into groups with normal speech and language ability, with deficits accessible to a traditional logopedic treatment, and with severe speech and language impairment that necessitates intensive treatment. DISCUSSION: The proposed tests allow an accurate evaluation of grammatical performance instead of subjective estimates.

Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.

Mutations in GJB2, the gene encoding for the Gap Junction protein Connexin 26 (Cx26), have been established as the major cause of hereditary, non-syndromic hearing impairment (HI). We report here the identification of a novel point mutation in GJB2, c.40A>G [p.N14D], detected in compound heterozygosity with the c.35delG mutation in two brothers with moderate non-syndromic sensorineural HI. The mother who carried one wildtype and a p.N14D allele displayed normal hearing. The mutation leads to substitution of the neutral amino acid asparagine (N) by the negatively charged aspartic acid (D) at amino acid number 14, a position that is conserved among Cx26 of different organisms and among many other connexin isoforms. To investigate the impact of this mutation on protein function, Cx26 activity was measured by depolarization activated hemichannel conductance in non-coupled Xenopus laevis oocytes. Oocytes injected with the p.N14D mutant cRNA showed strongly reduced currents compared to wildtype. Coinjection of wildtype and mutant cRNA at equimolar levels restored the conductive properties supporting the recessive character of this mutation. Total Cx26 protein expression and cell surface abundance examined by western blotting and by quantitative immunoassays revealed that the hemichannel was properly synthesized but not integrated into the plasma membrane. In this study we have shown that the GJB2 mutation p.N14D is associated with recessively inherited HI and exhibits a defective phenotype due to diminished expression at the cell surface.