[Impact of the COVID-19 pandemic on speech therapy for children with Speech and Language Disorders]. / Auswirkungen der COVID-19-Pandemie auf die logopädische Therapie von Kindern mit einer Sprachentwicklungsstörung.

OBJECTIVE: In December 2019, the COVID-19 pandemic began to spread around the world and caused massive restrictions in our daily life. Many educational facilities and practices delivering speech therapy were temporally closed (so-called lockdown). Children with a speech and language disorder were forced to pause their therapy. The aim of this study was to describe if and how speech therapy was delivered during lockdown and what psychological burden was associated to affected parents. MATERIAL AND METHODS: Parents of children with a speech and language disorder were asked about their child´s therapy during lockdown and about their fears and worries associated with it. RESULTS: For 17 patients speech therapy was paused during lockdown while 20 patients could continue their therapy. Children speaking a language other than German had a higher risk for having their therapy paused during lockdown (Odds ratio = 5.11, with 95 % confidence interval = 1.09-32.54). Parents whose children did not receive speech therapy during lockdown were more worried about their child's development. CONCLUSIONS: There is no common concept on how speech therapy can be delivered safely during lockdown. Possible barriers to healthcare might be more pronounced during the pandemic and parents experience a high psychosocial burden.

[Long-term course after inpatient speech therapy: educational and language development of children with severe specific language impairment (SLI)]. / Langzeitverlauf nach stationärer Sprachtherapie: schulische und sprachliche Entwicklung von Kindern mit schwerer spezifischer Sprachentwicklungsstörung (SES).

BACKGROUND: Studies from primarily English-speaking countries have shown that specific language impairments can lead to disadvantages in educational and professional development. Corresponding studies for Germany have not been published. This study surveys the educational and language outcomes of adolescents and young adults who were treated in an inpatient setting during childhood. MATERIALS AND METHODS: A total of 193 young adults who had received inpatient treatment between 1998 and 2005 at the Department of Communication Disorders of the Department of Otorhinolaryngology, Head, and Neck Surgery (ENT) of the Mainz University Medical Center were assessed. The cohort was contacted by telephone and interviewed about aspects of their educational and language development using a specially developed questionnaire. It was possible to include 70 participants in the study. RESULTS: Almost half (48.6%; n = 34) of the participants had attended a regular elementary school and 50% (n = 35) attended a special school with a focus on speech-language development (others: 1.4%, n = 1). Regarding school-leaving qualifications, 31.5% (n = 22) finished school with an Abitur/Fachabitur (high-school-level certificate), 33% (n = 23) with a Realschulabschluss (secondary school certificate), 30% (n = 21) with a Hauptschulabschluss (lower secondary certificate), and 4% (n = 3) with a special school certificate. Only one participant left school without a qualification. Of the interviewed participants, 71% (n = 50) do not feel any speech language limitations anymore. CONCLUSION: The results indicate a positive educational and language development of children with SLI after inpatient treatment in Germany. Over 90% of the participants finished school with a regular certification and most of them do not feel any speech and language limitations anymore.

[Evaluation of the Language-related Domain of the Pediatric Developmental Screening Instrument for Preschool Health Examinations (SOPESS): Results from the Prospective Child Health Survey ikidS]. / Evaluation der Sprachaufgaben des sozialpädiatrischen Entwicklungsscreenings für Schuleingangsuntersuchungen (SOPESS): Ergebnisse der prospektiven Kindergesundheitsstudie ikidS.

PURPOSE OF THE STUDY: Developmental delays at school enrollment can affect early educational achievement. Thus, diagnosis and treatment prior to school entry are important. In Germany, SOPESS - a pediatric developmental screening instrument for preschool health examinations (PHE) - was introduced in several federal states. We investigated the relationships between the results of the language-related domain of the SOPESS and later academic language competencies at the end of first grade. PROCEDURES: Data of the population-based cohort study ikidS (Rhineland Palatinate; Germany) and the PHE provided by public health authorities were linked at individual level. The relationship between the SOPESS-language risk score (range: 0 to 6, higher values indicate more developmental delay) and class teacher-based ratings of academic language competencies (range: -4 to+4, higher values indicate better competencies) was investigated with linear regression models and adjusted for several socio-economic and medical language predictors (e. g. age at school entry, gender, parental education, migration background, hearing disorder). The additional benefits of the SOPESS-language risk score was analyzed using analysis of variance. RESULTS: In total, 1357 children (48% girls, age at PHE 4.9-7.2 years) were included. A clear negative relationship between the SOPESS-language risk score and competencies in spoken and written language was found. Mean academic language competencies decreased with increasing SOPESS-language risk level from 0.8 (SD=1.7) at a risk score of 0 to-3.2 (SD=0.9) at a risk score of 6. The relationship persisted after adjusting for other language predictors. Analysis of variance showed significant benefits of the SOPESS-language risk score, even when further language predictors were considered. CONCLUSIONS: There was a clear relationship between results of the SOPESS-language screening and later academic language competencies. Hence, the language-related domain of the SOPESS may be useful for further recommendations of tailored special educational and medical support services, especially if additional socio-economic and medical factors are considered.

Clinical benefit of wideband-tympanometry: a pediatric audiology clinical study.

PURPOSE: Wideband-tympanometry (WBT) could give more informative data about the tympanic condition than the conventional tympanometry. In the actual literature, the clinical profit of wideband-tympanometry in pediatric audiological settings is not well evaluated. The aim of this study was to analyze the additional clinical benefit. METHODS: 150 children (281 ears) with normal hearing, at the age from 11 days up to 14;10 years, checked with pure tone audiometry or auditory brainstem responses (ABR) participated in this retrospective study. We divided in four age ranges (≤ 6 month; > 6 month ≤ 3 years; > 3 years ≤ 11 years; > 11 years). All children were evaluated with ENT examination including ear microscopy, conventional 226-Hz or 1000-Hz tympanometry and WBT. Ear canal volumes were determined. RESULTS: Compared with literature data, our patients aged ≤ 3 years showed smaller mean ear canal volumes (≤ 4 ml). We found a good statistical correlation between the WBT-results and 1000-Hz tympanometry but a rare correlation between WBT-results and ear microscopic findings. In the patients with pathologic ear microscopic results in all groups of age, a significant reduction of WBT-absorbance in 1000 Hz and 2000 Hz was found. CONCLUSIONS: This study confirms that WBT collects additive data to detect the correct middle ear status. In pediatric audiology, WBT is an additional useful method to value middle ear problems and to analyze the character of infantile hearing loss. Standard guidelines for the interpretation of the pediatric population are needed. Hence, it will be necessary to determine these findings in a larger number of infantile ears.

Validation of the second version of the LittlEARS® Early Speech Production Questionnaire (LEESPQ) in German-speaking children with normal hearing.

INTRODUCTION: The introduction of neonatal hearing screening and the increasingly early age at which children can receive a cochlear implant has intensified the need for a validated questionnaire to assess the speech production of children aged 0‒18. Such a questionnaire has been created, the LittlEARS® Early Speech Production Questionnaire (LEESPQ). This study aimed to validate a second, revised edition of the LEESPQ. METHODS AND MATERIALS: Questionnaires were returned for 362 children with normal hearing. Completed questionnaires were analysed to determine if the LEESPQ is reliable, prognostically accurate, internally consistent, and if gender or multilingualism affects total scores. RESULTS: Total scores correlated positively with age. The LEESPQ is reliable, accurate, and consistent, and independent of gender or lingual status. A norm curve was created. DISCUSSION: This second version of the LEESPQ is a valid tool to assess the speech production development of children with normal hearing, aged 0‒18, regardless of their gender. As such, the LEESPQ may be a useful tool to monitor the development of paediatric hearing device users. CONCLUSION: The second version of the LEESPQ is a valid instrument for assessing early speech production of children aged 0‒18 months.

Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations.

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 scanning magnification, induced by perivascular accumulation of histiocytoid cell forms. Similar agglomerates could sometimes be found at the base of lymphoid follicles. In the blinded assessment a specificity of 92% (100% for adenoids) and a sensitivity of 100% were achieved. The inter-observer-consistency was 92% (100% for adenoids). In tonsillectomy specimens marked subepithelilal fibrosis can lead to a false-negative evaluation. CONCLUSIONS: Qualified histological examination could be an option for early diagnosis of MPS.

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 hearing loss and 1.4 in controls. By next-generation sequencing alone, 12 of 23 (52%) probands were diagnosed with monogenic forms of nonsyndromic hearing loss; one individual displayed a DNA sequence mutation together with a microdeletion. Two (9%) probands have Usher syndrome. In the undiagnosed individuals (10/23; 43%) we detected a significant enrichment of potentially pathogenic variants as compared to controls. CONCLUSION: Next-generation sequencing combined with microarrays provides the diagnosis for approximately half of the GJB2 mutation-negative individuals. Usher syndrome was found to be more frequent in the study cohort than anticipated. The conditions in a proportion of individuals with nonsyndromic hearing loss, particularly in the undiagnosed group, may have been caused or modified by an accumulation of unfavorable variants across multiple genes.

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 children with MPS, but adult males with MPS had a higher F0 than healthy men.

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

BACKGROUND: We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous. METHODS AND RESULTS: Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder. CONCLUSIONS: Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII.