0000000000056536
AUTHOR
Anne K Läßig
showing 4 related works from this author
Alterations in speech and voice in patients with mucopolysaccharidoses.
2013
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…
Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations.
2015
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…
Evaluation der Sprachaufgaben des sozialpädiatrischen Entwicklungsscreenings für Schuleingangsuntersuchungen (SOPESS): Ergebnisse der prospektiven Ki…
2020
Zusammenfassung Hintergrund Eine frühe Diagnostik und Behandlung von Entwicklungsstörungen vor der Einschulung ist für den weiteren Bildungserfolg maßgeblich. Deshalb wurde das Sozialpädiatrische Entwicklungsscreening für Schuleingangsuntersuchungen (SOPESS) konzipiert und in mehreren Bundesländern flächendeckend eingeführt. Fragestellung Wir untersuchten die Zusammenhänge zwischen den Screening-Ergebnissen der SOPESS-Sprachaufgaben vor der Einschulung und den schulischen Sprachkompetenzen am Ende der ersten Klasse als Teil einer umfassenden Evaluation des SOPESS. Methoden Daten der rheinland-pfälzischen Schuleingangsuntersuchung und der prospektiven Kindergesundheitsstudie ikidS wurden zus…
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
2014
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…