When persons who stutter (PWS) read a text repeatedly, there is a progressive reduction in stutter frequency over the course of three to five readings. Recently, this phenomenon has been attributed by some researchers to motor learning-the acquisition of relatively permanent motor skills that facilitate fluency through practice in producing words. The current study tested this explanation. 23 PWS read prose passages five times in succession. The number of 'new' and 'old' stutters during repeated readings (words stuttered in the current reading but spoken fluently in the previous reading and words stuttered also in the previous reading) were analyzed. If motor learning facilitated fluency during repeated readings in PWS, words read fluently in a reading should not be stuttered in a later reading in significant numbers. Contrary to this prediction, there was no statistical difference in the number of new words stuttered across five readings. A plausible alternative explanation, which requires further study to verify, is offered.
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http://dx.doi.org/10.2466/25.23.pms.117x16z4 | DOI Listing |
J Speech Lang Hear Res
January 2025
Institute of Cognitive Neuroscience, University College London, United Kingdom.
Purpose: Talking in unison with a partner, otherwise known as choral speech, reliably induces fluency in people who stutter (PWS). This effect may arise because choral speech addresses a hypothesized motor timing deficit by giving PWS an external rhythm to align with and scaffold their utterances onto. This study tested this theory by comparing the choral speech rhythm of people who do and do not stutter to assess whether both groups change their rhythm in similar ways when talking chorally.
View Article and Find Full Text PDFJ Med Genet
December 2024
Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification or methylation-sensitive PCR and then proceeds to molecular subtyping to determine the mechanism and recurrence risk.
View Article and Find Full Text PDFHum Mol Genet
September 2024
Department of Medical Microbiology and Immunology, School of Medicine, University of California Davis, 1275 Med Science Dr, Davis, CA 95616, United States.
Human cell line models, including the neuronal precursor line LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS results from loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergent antisense transcript UBE3A-ATS, a lncRNA that terminates at PWAR1 in non-neurons. qRT-PCR analysis confirmed the exclusive and progressive increase in UBE3A-ATS in differentiating LUHMES neurons, validating their use for studying UBE3A silencing.
View Article and Find Full Text PDFAnn Hum Genet
September 2024
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Introduction: Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders.
Methods: Currently, no tools to analyze DNA methylation patterns at known clinically relevant imprinted regions are available.
Human cell line models, including the neuronal precursor line LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS results from loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergent antisense transcript UBE3A-ATS, a lncRNA that normally terminates at PWAR1 in non-neurons. qRTPCR analysis confirmed the exclusive and progressive increase in UBE3A-ATS in differentiating LUHMES neurons, validating their use for studying UBE3A silencing.
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