Alterations in speech and voice in patients with mucopolysaccharidoses.

The mucopolysaccharidoses are a group of lysosomal disorders characterized by abnormal accumulation of glycosaminoglycans within cell lysosomes leading to a variety of signs and symptoms including alterations in speech and voice production. These changes were analysed in 44 patients with mucopolysaccharidosis (MPS) types I, II, and VI using standardized protocols. Compared to healthy individuals the diadochokinetic rate for the fast repetition of syllables was slower and more irregular, the voice-onset time for the voiceless consonant /p/ was shorter, and most patients had a hoarse voice. The fundamental frequency (F0) of sustained spoken vowels was in the normal range for most women and ch…

Mental health problems in adolescents with cochlear implants: Peer problems persist after controlling for additional handicaps

The aims of the present multi-center study were to investigate the extent of mental health problems in adolescents with a hearing loss and cochlear implants (CIs) in comparison to normal hearing (NH) peers and to investigate possible relations between the extent of mental health problems of young CI users and hearing variables, such as age at implantation, or functional gain of CI. The survey included 140 adolescents with CI (mean age = 14.7, SD = 1.5 years) and 140 NH adolescents (mean age = 14.8, SD = 1.4 years), their parents and teachers. Participants were matched by age, gender and social background. Within the CI group, 35 adolescents were identified as “risk cases” due to possible an…

Vocal function following laser and conventional surgery of small malignant vocal fold tumours

AbstractIn the disecribed study, 26 patients after conventional, and 27 patients after laser cordectomy were examined six months or more after the operation. Videolarybogstroboscopy revealed that patients after laser cordectomy more often phonate on a purely glottic level (81 per cent) in comparison to patienbts after conventional cordectomy (19 per cent). Webs were more frequent and more extended after conventional cordectomy compared to endoscopic laser surgery. The maximal phonation time showed a very wide range with a mean value of 9 to 10 sec; there was no statistical difference between the groups of patients. Using yanagihara's classification of sonograms, a better voice quality was m…

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

AbstractPendred syndrome (PS) is the most common cause of syndromic deafness, accounting for more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral sensorineural hearing loss and by goiter with or without hypothyroidism. Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P. An audiological long-term follow-up of 23 yr showed that the mutation T416P is associated with a …

Dysphonia in Children – Part 2

Hintergrund: National und international gibt es unterschiedliche Vorstellungen und Konzepte zur Diagnostik und Therapie von Dysphonien bei Kindern. Die in verschiedenen Publikationen vertretenen Auffassungen hinsichtlich der Behandlung reichen vom Abwarten einer Selbstheilung („wait and see“) uber Phonochirurgie (z. B. von Stimmlippenknotchen) bis hin zu Stimmubungstherapie und Psychotherapie. Ziel: Ziel der vorliegenden Arbeit war es deshalb, einen interdisziplinaren Konsens uber die diagnostischen und therapeutischen Moglichkeiten bei kindlichen Dysphonien herbeizufuhren. Methodik: Nominaler Gruppenprozess, interdisziplinare Diskussion uber diagnostische Moglichkeiten und Behandlungskonze…

Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations.

Abstract Objective Tonsillar hypertrophy caused by the progressive accumulation of partially degraded glycosaminoglycans (GAGs) within the cells is a typical symptom in patients with mucopolysaccharidoses (MPS). We studied the tissue of adenoids and tonsils of patients suffering from MPS with special regard to characteristic morphological features serving as possible markers for diagnosis. Methods Adenoids of 87 patients and tonsils of 4 patients with MPS (2 patients with MPS I, 7 MPS II, 5 MPS IV and 10 MPS VI and 63 controls) and controls were examined. Examinations were repeated in a blinded manner by two pathologists. Results The key feature observed was a subepithelial “clearing” on sc…

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…

Psychological and physical well-being in hearing-impaired children

Summary Objectives The purpose of this study was to evaluate the psychological and physical well-being in 6–11-year-old hearing-impaired children. Methods The cohort consisted of 70 boys and 61 girls who either attended a special school for deaf children ( n  = 78) or a mainstream school ( n  = 53). We used the FKSI (Frankfurt Self-Concept Scales for Children). Results Children in special schools saw themselves in a less favourable light than children in mainstream schools. They were less confident and less assertive. They reached lower scores in making friends, and were more anxious and sad. Children attending mainstream schools were found to be more self-confident the more pronounced the …

Late consequences of traumatic rupture of the diaphragm.

A 54-year-old man was admitted to our clinic due to elevated γ-glutamyltransferase, without any clinical symptoms. About 25 years ago, he had undergone blunt abdominal and thoracic trauma during an accident. No diagnostic measures or therapy had been performed at that time. Serum bilirubin was normal, but the values for alanine transaminase, aspartate transaminase, and alkaline phosphatase were slightly above the reference range. Sonography of the abdomen revealed dilated intrahepatic bile ducts up to 3 mm in diameter and steatosis of the liver grade I. CT scan and MRI of the thorax and abdomen showed a giant hiatal hernia with transposition of upper abdominal organs into the chest. As the …

Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes

Abstract Context: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features. Whereas the hallmark of PS is sensorineural deafness, other forms of congenital hypothyroidism may also lead to hearing impairment. Therefore, a definite diagnosis may be difficult and require molecular genetic analyses. Case Report: The propositus presented at birth with primary hypothyroidism and goiter. He also had congenital bilateral moderate hearing loss, and PS was suspected. Methods: We sequenced the SLC26A4/PDS and TPO genes in …

Sprachentwicklungsstörungen bei Kindern

Wesentliche Voraussetzung für eine ungestörte Kindesentwicklung ist ein regelrechter Spracherwerb. Sprachentwicklungsstörungen (SES) im Kindesalter sind häufig. Für spezifische (isolierte) Sprachentwicklungsstörungen liegt die Prävalenz bei 6 – 8 %; hinzukommen SES, die mit anderen Störungen assoziiert sind. Da flächendeckende Sprachstandserfassungen im Kindergartenalter, die Kinder mit einem SES-Verdacht einer Diagnostik zuführen sollen, auch in Deutschland in den Blickpunkt rücken und eine erhebliche Unsicherheit in der Diagnosestellung von SES und der Verordnungspraxis für Sprachtherapie besteht, sollen die hier in gekürzter Form vorgestellten, überarbeiteten AWMF-Leitlinien der Deutsch…

Is a specialised training of phonological awareness indicated in every preschool child?

<i>Objective and Methods: </i>In a prospective study 218 preschool children were enrolled (stratified in 2 training programs, one specialized for phonologic awareness in order to prevent dyslexia, the other consisting in training of general perception) during the last year of kindergarten. After finishing the first grade 131 children were compared in their reading and writing abilities.<i> Results: </i>In the whole group only a slight difference was found between both training modalities concerning their writing abilities. However, children with a history of hearing loss, actual hearing loss or pathologic middle ear findings profited most from the specialized trainin…

Auditory, speech and language development in young children with cochlear implants compared with children with normal hearing.

Abstract Objective This study had two aims: (1) to document the auditory and lexical development of children who are deaf and received the first cochlear implant (CI) by the age of 16 months and the second CI by the age of 31 months and (2) to compare these children's results with those of children with normal hearing (NH). Methods This longitudinal study included five children with NH and five with sensorineural deafness. All children of the second group were observed for 36 months after the first fitting of the device (cochlear implant). The auditory development of the CI group was documented every 3 months up to the age of two years in hearing age and chronological age and for the NH gro…

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

Purpose: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. Methods: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. Results: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic h…

Canonical Babbling and Early Hearing and Language Development of Normal Hearing Children and Children with Cochlear Implants

(2010). Canonical Babbling and Early Hearing and Language Development of Normal Hearing Children and Children with Cochlear Implants. Cochlear Implants International: Vol. 11, Proceedings of the 9th European Symposium on Paediatric Cochlear Implantation, Warsaw, 2009, pp. 375-378.

Dysphonien bei Kindern – Teil 1

Hintergrund: Uber die Behandlung von Dysphonien im Kindesalter gibt es international aktuell keinen Konsens und keine Leitlinie. Zudem differieren die in verschiedenen Publikationen vertretenen Auffassungen uber Ursachen, Entwicklung und Pravalenzen stark. Ziel: Ziel der vorliegenden Arbeit war es deshalb, einen interdisziplinaren Konsens bezuglich der Pathogenese, Atiologie und Auswirkungen von Stimmstorungen bei Kindern herbeizufuhren. Methodik: Nominaler Gruppenprozess, interdisziplinarer Erfahrungsaustausch, Literaturrecherche und Evidenzlevelbewertung von Publikationen zu Ursachen, Haufigkeiten, Entstehung und Entwicklung von Dysphonien bei Kindern und Jugendlichen. Ergebnisse: Die aus…

Begutachtung oropharyngealer Schluckstörungen

Die Zahl der chronisch dysphagischen Patienten hat in den letzten Jahren zugenommen, weil durch moderne Behandlungsverfahren fur neurologische Erkrankungen und Tumorerkrankungen im Kopf-Hals-Bereich bei diesen Patienten hohere Uberlebensraten erreicht werden konnten. Insbesondere zur Begutachtung oropharyngealer Schluckstorungen sollten auser anamnestischen Daten, wie dies in den “Anhaltspunkten fur die arztliche Gutachtertatigkeit im sozialen Entschadigungsrecht und nach dem Schwerbehindertengesetz” vorgesehen ist, auch die Ergebnisse verschiedener Untersuchungsverfahren einfliesen. Mit modernen Behandlungsverfahren kann heute in der Regel eine Beeintrachtigung des Krafte- und Ernahrungszu…

[The importance of socio-cultural factors for the development of speech and language].

Manifestation of speech and language disorders in children with hearing impairment compared with children with specific language disorders.

Children with hearing impairment (HI) often suffer from speech and language disorders. We wondered if the manifestation of these disorders resembled the ones in children with specific language impairment (SLI). Using matched pairs, we compared the manifestation of a speech and language disorder in 5- and 6-year-old children with HI and SLI. We looked at receptive language skills using the Reynell scales, the lexicon, syntax and morphology, output phonology, and phonological short-term memory. Receptive language skills were more impaired in HI children. No significant differences were recorded for all other domains. We conclude that language deficits that are at least partially caused by the…

Analysis of Fifty-Six Cochlear Implant Device Failures

<i>Objective:</i> Our aim was to present a failure analysis after cochlear implant revision surgery in a large series of children and adults and to assess the outcome and audiologic performance. <i>Methods:</i> Fifty-six cochlear implant failures that occurred in 422 devices implanted between 1990 and 2007 at the Department of Otolaryngology, Head and Neck Surgery at the University of Mainz, Germany, were retrospectively analyzed. The causes of failure were reviewed evaluating the individual history, telemetric and intraoperative findings and manufacturer’s investigation reports. <i>Results:</i> We performed 56 surgical revisions in a series of 422 consec…

Long-Term Functional Outcome after Unilateral Cordectomy

<i>Purpose of the Study:</i> Our aim was to longitudinally analyze the vocal outcome after endoscopic CO<sub>2</sub> laser resection of early glottic carcinoma. <i>Procedures:</i> Sixteen patients treated with laser surgery for T1 or T2 tumors of the vocal cords received voice therapy and were examined 1, 2, 3, 4.5, 6 and 12 months postoperatively. Besides videolaryngostroboscopy, each examination included history, phonetogram of the speaking and the singing voice, language-specific hoarseness diagram and a questionnaire (Voice Handicap Index 12 in German). <i>Results:</i> Objective parameters demonstrated a broad variability with a slight ten…

Evaluation of auditory development in infants and toddlers who received cochlear implants under the age of 24 months with the LittlEARS® Auditory Questionnaire

Abstract Background and Aims Newborn hearing screening and early intervention for congenital hearing loss have created a need for tools assessing the hearing development of very young children. A multidisciplinary evaluation of children's development is now becoming standard in clinical practice, though not many reliable diagnostic instruments exist. For this reason, the LittlEARS ® Auditory Questionnaire (LEAQ) was created to assess the auditory skills of a growing population of infants and toddlers who receive hearing instruments. The LEAQ relies on parent report, which has been shown to be a reliable way of assessing child development. Results with this tool in a group of children who re…

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both parents and their four other children were heterozygous translocation carriers, 46,XX,t(10;11) and 46,XY,t(10;11), respectively. Fluorescence in situ hybridization of region-specific clones to patient chromosomes was used to localize the breakpoints within bacterial artificial chromosome (BAC) RP11-108L7 on chromosome 10q24.3 and within BAC CTD-2527F12 on chromosome 11q23.3. Junction fragments were cloned by vector ligation and sequenced. The chromosome 10 breakpoint was identified within the PDZ domain containing 7 (PDZD7) gene, disrupti…

<i>GJB2</i> Mutations and Genotype-Phenotype Correlation in 335 Patients from Germany with Nonsyndromic Sensorineural Hearing Loss: Evidence for Additional Recessive Mutations Not Detected by Current Methods

We report on 335 patients (319 families) with mild-to-profound nonsyndromic sensorineural hearing loss. We identified 178 mutated <i>GJB2</i> alleles representing 29 different sequence changes (including 3 novel mutations: Q7P, N14D, H100Q), and 2 alleles with the deletion del(GJB6-D13S1830) of the <i>GJB6</i> gene. Eleven <i>GJB2</i> mutations (119 mutated alleles) were truncating (T), and 18 mutations (59 alleles) were nontruncating (NT). Biallelic <i>GJB2</i> mutations were found in 71 patients (21.2%; 67 families; 25 different genotypes). Audiograms of 62 patients (56 families) with biallelic <i>GJB2</i> mutations typically ind…

Deficient membrane integration of the novel p.N14D-GJB2mutant 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 o…

Das Cogan-I-Syndrom

Wir berichten uber 2 Patienten, die seit dem Sauglings- und Kleinkindesalter unter einem Cogan-I-Syndrom leiden.Bei diesem seltenen Krankheitsbild handelt es sich um eine akute oder schubweise Verschlechterung der Horleistung des Innenohrs mit vestibularer Symptomatik und einer nichtsyphilitischen interstitiellen Keratitis oder anderen entzundlichen okularen Symptomen beim atypischen Cogan-I-Syndrom. Die erste Patientin erkrankte im 5.Lebensjahr an verschiedenen okularen Entzundungen, sodass ein Auge im 8.Lebensjahr erblindete.Zu dieser Zeit begann die Horverschlechterung. Im Alter von 17 Jahren litt die Patientin beidseits unter einer an Taubheit grenzenden Schwerhorigkeit. Bei dem zweiten…