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  1. Article ; Online: Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering.

    Horton, Sarah / Jackson, Victoria / Boyce, Jessica / Franken, Marie-Christine / Siemers, Stephanie / John, Miya St / Hearps, Stephen / van Reyk, Olivia / Braden, Ruth / Parker, Richard / Vogel, Adam P / Eising, Else / Amor, David J / Irvine, Janelle / Fisher, Simon E / Martin, Nicholas G / Reilly, Sheena / Bahlo, Melanie / Scheffer, Ingrid /
    Morgan, Angela

    Journal of speech, language, and hearing research : JSLHR

    2023  , Page(s) 1–10

    Abstract: Purpose: To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In the era of big data, self-reported ratings have great potential utility for large-scale data collection, where cost ... ...

    Abstract Purpose: To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In the era of big data, self-reported ratings have great potential utility for large-scale data collection, where cost and time preclude in-depth assessment by a clinician. Equally, there is increasing emphasis on the need to recognize an individual's experience of their own condition. Here, we examined the agreement between self-reported stuttering severity compared to clinician ratings during a speech assessment. As a secondary objective, we determined whether self-reported stuttering severity correlated with an individual's subjective impact of stuttering.
    Method: Speech-language pathologists conducted face-to-face speech assessments with 195 participants (137 males) aged 5-84 years, recruited from a cohort of people with self-reported stuttering. Stuttering severity was rated on a 10-point scale by the participant and by two speech-language pathologists. Participants also completed the Overall Assessment of the Subjective Experience of Stuttering (OASES). Clinician and participant ratings were compared. The association between stuttering severity and the OASES scores was examined.
    Results: There was a strong positive correlation between speech-language pathologist and participant-reported ratings of stuttering severity. Participant-reported stuttering severity correlated weakly with the four OASES domains and with the OASES overall impact score.
    Conclusions: Participants were able to accurately rate their stuttering severity during a speech assessment using a simple one-item question. This finding indicates that self-report stuttering severity is a suitable method for large-scale data collection. Findings also support the collection of self-report subjective experience data using questionnaires, such as the OASES, which add vital information about the participants' experience of stuttering that is not captured by overt speech severity ratings alone.
    Language English
    Publishing date 2023-12-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1364086-0
    ISSN 1558-9102 ; 1092-4388
    ISSN (online) 1558-9102
    ISSN 1092-4388
    DOI 10.1044/2023_JSLHR-23-00081
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Conversational Language in 3-Year-Old Children Born Very Preterm and at Term.

    Sanchez, Katherine / Spittle, Alicia J / Boyce, Jessica O / Leembruggen, Linda / Mantelos, Anastasia / Mills, Stephanie / Mitchell, Naomi / Neil, Emily / John, Miya St / Treloar, Jasmin / Morgan, Angela T

    Journal of speech, language, and hearing research : JSLHR

    2019  Volume 63, Issue 1, Page(s) 206–215

    Abstract: Purpose Language difficulties are prevalent among children born preterm. Existing studies have largely used standardized language tests, providing limited scope for detailed descriptive examination of preterm language. This study aimed to examine ... ...

    Abstract Purpose Language difficulties are prevalent among children born preterm. Existing studies have largely used standardized language tests, providing limited scope for detailed descriptive examination of preterm language. This study aimed to examine differences in conversational language between children born < 30 weeks and at term as well as correlations between language sample analysis (LSA) and a standardized language tool. Method Two hundred four 3-year-olds (103 born < 30 weeks, 101 born at term) recruited at birth provided a 10-min language sample and completed the Preschool Language Scales-Fifth Edition (I. Zimmerman, Steiner, & Pond, 2011). LSA was conducted using the Systematic Analysis of Language Transcripts and Index of Productive Syntax. Group differences were analyzed using linear regression, and Pearson correlation coefficient (coef) was used to determine correlations between measures. Results Children born < 30 weeks scored lower than term-born peers on multiple metrics when controlled for confounding factors (sex, high social risk, multilingualism, and diagnosed neurodevelopmental disorders), including mean length of utterance in morphemes (coef = -0.28, 95% confidence interval [CI] [-0.56, 0.01]) and words (coef = -0.29, 95% CI [-0.53, -0.05]), number of different word roots (coef = -10.04, 95% CI [-17.93, -2.14]), and Index of Productive Syntax sentence structures (coef = -1.81, 95% CI [-3.10, -0.52]). Other variables (e.g., number of utterances, number of nouns and adjectives) were not significantly different between groups. LSA and the Preschool Language Scales-Fifth Edition were at most moderately correlated (≤ .45). Conclusions Three-year-old children born preterm demonstrated poorer conversational language than children born at term, with some specific areas of deficit emerging. Furthermore, formal assessment and LSA appear to provide relatively distinct and yet complementary data to guide diagnostic and intervention decisions. Supplemental Material https://doi.org/10.23641/asha.11368073.
    MeSH term(s) Child Language ; Child, Preschool ; Communication ; Female ; Gestational Age ; Humans ; Infant, Extremely Premature/psychology ; Infant, Newborn ; Language Development Disorders/psychology ; Longitudinal Studies ; Male ; Prospective Studies ; Term Birth/psychology ; Verbal Behavior
    Language English
    Publishing date 2019-12-19
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1364086-0
    ISSN 1558-9102 ; 1092-4388
    ISSN (online) 1558-9102
    ISSN 1092-4388
    DOI 10.1044/2019_JSLHR-19-00153
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

    Levy, Michael A / Relator, Raissa / McConkey, Haley / Pranckeviciene, Erinija / Kerkhof, Jennifer / Barat-Houari, Mouna / Bargiacchi, Sara / Biamino, Elisa / Palomares Bralo, María / Cappuccio, Gerarda / Ciolfi, Andrea / Clarke, Angus / DuPont, Barbara R / Elting, Mariet W / Faivre, Laurence / Fee, Timothy / Ferilli, Marco / Fletcher, Robin S / Cherick, Florian /
    Foroutan, Aidin / Friez, Michael J / Gervasini, Cristina / Haghshenas, Sadegheh / Hilton, Benjamin A / Jenkins, Zandra / Kaur, Simranpreet / Lewis, Suzanne / Louie, Raymond J / Maitz, Silvia / Milani, Donatella / Morgan, Angela T / Oegema, Renske / Østergaard, Elsebet / Pallares, Nathalie R / Piccione, Maria / Plomp, Astrid S / Poulton, Cathryn / Reilly, Jack / Rius, Rocio / Robertson, Stephen / Rooney, Kathleen / Rousseau, Justine / Santen, Gijs W E / Santos-Simarro, Fernando / Schijns, Josephine / Squeo, Gabriella M / John, Miya St / Thauvin-Robinet, Christel / Traficante, Giovanna / van der Sluijs, Pleuntje J / Vergano, Samantha A / Vos, Niels / Walden, Kellie K / Azmanov, Dimitar / Balci, Tugce B / Banka, Siddharth / Gecz, Jozef / Henneman, Peter / Lee, Jennifer A / Mannens, Marcel M A M / Roscioli, Tony / Siu, Victoria / Amor, David J / Baynam, Gareth / Bend, Eric G / Boycott, Kym / Brunetti-Pierri, Nicola / Campeau, Philippe M / Campion, Dominique / Christodoulou, John / Dyment, David / Esber, Natacha / Fahrner, Jill A / Fleming, Mark D / Genevieve, David / Heron, Delphine / Husson, Thomas / Kernohan, Kristin D / McNeill, Alisdair / Menke, Leonie A / Merla, Giuseppe / Prontera, Paolo / Rockman-Greenberg, Cheryl / Schwartz, Charles / Skinner, Steven A / Stevenson, Roger E / Vincent, Marie / Vitobello, Antonio / Tartaglia, Marco / Alders, Marielle / Tedder, Matthew L / Sadikovic, Bekim

    Human mutation

    2022  Volume 43, Issue 11, Page(s) 1609–1628

    Abstract: An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in ... ...

    Abstract An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of disorder-specific and recurring genome-wide differentially methylated probes (DMPs) and regions (DMRs). The overall distribution of DMPs and DMRs across the majority of the neurodevelopmental genetic syndromes analyzed showed substantial enrichment in gene promoters and CpG islands, and under-representation of the more variable intergenic regions. Analysis showed significant enrichment of the DMPs and DMRs in gene pathways and processes related to neurodevelopment, including neurogenesis, synaptic signaling and synaptic transmission. This study expands beyond the diagnostic utility of DNA methylation episignatures by demonstrating correlation between the function of the mutated genes and the consequent genomic DNA methylation profiles as a key functional element in the molecular etiology of genetic neurodevelopmental disorders.
    MeSH term(s) CpG Islands/genetics ; DNA Methylation/genetics ; DNA, Intergenic ; Epigenesis, Genetic ; Humans ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Syndrome
    Chemical Substances DNA, Intergenic
    Language English
    Publishing date 2022-08-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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