9 results on '"Ziegenfusz, S"'
Search Results
2. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
- Author
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Kaspi, A., Hildebrand, M.S., Jackson, V.E., Braden, R., Reyk, O. van, Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M.J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E.K., Parry-Fielder, B., Ballard, K., Harrold, E., Ziegenfusz, S., Bennett, M.F., Robertson, E., Wang, L., Boys, A., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., Morgan, A.T., Kaspi, A., Hildebrand, M.S., Jackson, V.E., Braden, R., Reyk, O. van, Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M.J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E.K., Parry-Fielder, B., Ballard, K., Harrold, E., Ziegenfusz, S., Bennett, M.F., Robertson, E., Wang, L., Boys, A., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., and Morgan, A.T.
- Abstract
Item does not contain fulltext
- Published
- 2023
3. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
- Author
-
Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, MJ, Webster, R, Coman, D, Goel, H, Wallis, M, Dabscheck, G, Downie, L, Baker, EK, Parry-Fielder, B, Ballard, K, Harrold, E, Ziegenfusz, S, Bennett, MF, Robertson, E, Wang, L, Boys, A, Fisher, SE, Amor, DJ, Scheffer, IE, Bahlo, M, Morgan, AT, Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, MJ, Webster, R, Coman, D, Goel, H, Wallis, M, Dabscheck, G, Downie, L, Baker, EK, Parry-Fielder, B, Ballard, K, Harrold, E, Ziegenfusz, S, Bennett, MF, Robertson, E, Wang, L, Boys, A, Fisher, SE, Amor, DJ, Scheffer, IE, Bahlo, M, and Morgan, AT
- Abstract
Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we aimed to identify molecular causation in 70 unrelated probands ascertained with CAS. We performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, structural and short tandem repeat variants. We prioritised appropriate variants arising de novo or inherited that were expected to be damaging based on in silico predictions. We identified high confidence variants in 18/70 (26%) probands, almost doubling the current number of candidate genes for CAS. Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS, while the remaining 15 occurred in genes not previously associated with this disorder. Fifteen variants arose de novo and three were inherited. We provide further novel insights into the biology of child speech disorder, highlighting the roles of chromatin organization and gene regulation in CAS, and confirm that genes involved in CAS are co-expressed during brain development. Our findings confirm a diagnostic yield comparable to, or even higher, than other neurodevelopmental disorders with substantial de novo variant burden. Data also support the increasingly recognised overlaps between genes conferring risk for a range of neurodevelopmental disorders. Understanding the aetiological basis of CAS is critical to end the diagnostic odyssey and ensure affected individuals are poised for precision medicine trials.
- Published
- 2023
4. How to create accessible research summaries for the developmental language disorder community.
- Author
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Gasparini L, Ziegenfusz S, Turner N, Leitão S, St Clair MC, and Jackson E
- Subjects
- Humans, Biomedical Research, Guidelines as Topic, Information Dissemination methods, Access to Information, Language Development Disorders therapy
- Abstract
Background: Eighty-five percent of medical research goes to waste, partly because it is not appropriately communicated to stakeholders. This represents a critical issue for the research community, especially because individuals who are impacted by research should be able to readily access that research. Making research findings accessible to key stakeholders is an important step in implementation science and in enabling research to have meaningful impacts. Plain language summaries are a tool to make research more accessible to individuals with communication disorders. While guidelines exist to support researchers to develop plain language summaries for some populations, no such guidelines exist for the developmental language disorder (DLD) community., Aims: We aimed to develop evidence-informed guidelines to support researchers to create plain language summaries that are accessible for individuals with DLD, their families, and the broader community. This discussion paper describes the development of these guidelines and how they may be implemented by researchers who conduct research on the topic of DLD., Methods: We drew from existing plain language summary guidelines for other populations and knowledge of various barriers that may impact the DLD community's ability to access scientific research. We used this knowledge to create guidelines for researchers to develop plain language summaries of their research relating to the DLD population. This includes guidelines for creating written, visual, audio and video summaries. We consulted with an adult with DLD, an implementation scientist, and a speech-language pathologist regarding the suitability of the guidelines., Main Contribution: The plain language summary guidelines are publicly available via https://osf.io/ydkw9. They include templates and examples, as well as suggestions for writing and visual styles. We encourage strengths-based language, seeking feedback from non-experts, and sharing the summaries on social media. We have also developed an online repository for researchers to disseminate their plain language summaries via DLD advocacy groups., Conclusions: The written, audio and video plain language summaries that researchers create using our guidelines can be used to disseminate research to the DLD community. This can facilitate science implementation and maximise the impact of DLD research. The plain language summaries may also help individuals with DLD better understand the research that has been conducted about them. This may in turn support their engagement with services and empower them to make evidence-informed choices for themselves and partner in co-designing new research. Future research could explore the perspectives of the DLD community and researchers regarding the implementation of these guidelines., Plain Language Summary: A lot of research goes to waste. This is partly because researchers rarely share their results with the non-scientific community. People with communication disorders might find it hard to understand research papers. We made guidelines to help researchers explain their research to people with developmental language disorder (DLD. We brought together existing advice on how to explain research in a clear way. We sought advice from people with different experiences and perspectives, including an adult with DLD. The guidelines are at https://osf.io/ydkw9. The guidelines include advice on how to add pictures to research summaries. We also explain how to make a video or podcast summarising research. We encourage researchers to share their research summaries on social media. This means their research can reach more people and can make a difference. It is important that people with DLD understand DLD research. This might help them to understand their diagnosis and take part in future research., What This Paper Adds: What is already known on the subject For research to make a difference, it must be appropriately communicated to its stakeholders; however, only 1.5% of academic journals require authors to write plain language summaries. What this paper adds to existing knowledge This paper presents publicly available guidelines for researchers to create written, visual, audio and video plain language summaries aimed to be accessible for individuals with developmental language disorder (DLD) and their families. What are the potential or actual clinical implications of this work? Researchers can use plain language summaries to disseminate research to the wider community. This can help individuals with DLD better understand the research that has been conducted about them and may empower them to meaningfully partner in co-designing new research., (© 2024 Royal College of Speech and Language Therapists.)
- Published
- 2025
- Full Text
- View/download PDF
5. Stakeholder perspectives on educational needs and supports for students with developmental language disorder.
- Author
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Ziegenfusz S, Westerveld MF, Fluckiger B, and Paynter J
- Subjects
- Humans, Female, Male, Child, School Teachers psychology, Parents psychology, Parents education, Adult, Adolescent, Stakeholder Participation psychology, Caregivers psychology, Caregivers education, Students psychology, Surveys and Questionnaires, Allied Health Personnel education, Allied Health Personnel psychology, Literacy, Language Development Disorders psychology
- Abstract
Background & Aims: Students with developmental language disorder (DLD) often experience academic underachievement, and require adjustments and accommodations to access the curriculum. Teachers, allied health professionals and parents/caregivers have varying roles in the education process, and it is essential they work together to provide optimal support. However, their perspectives on the areas of functioning most impacting learning, the difficulty of school-based tasks and the helpfulness of educational support have received limited attention., Methods & Procedures: A between-group survey design was used with recruitment occurring from September 2020 to October 2021. A total of 293 participants was comprised of teachers (n = 78), allied health professionals (n = 138) and parents/caregivers (n = 77). All respondents rated the learning impact of seven areas of functioning (academic behaviour, fine/gross motor, language/communication, literacy, numeracy, sensory and social/emotional), the difficulty of 39 school-based tasks, and the helpfulness of 27 educational supports for primary and/or secondary school-aged students with DLD. The groups of school-based tasks were combined into seven subscales (academic behaviour-related tasks, fine/gross motor tasks, language/communication tasks, literacy tasks, numeracy tasks, sensory-related tasks and social/emotional tasks) for analysis. The educational supports were also combined into six subscales (additional time, differentiation/adjustments, individualized support, social/emotional support, technology and visual supports)., Outcomes & Results: All participants rated literacy and language/communication as the areas of functioning most impacting learning and requiring the highest level of support for students with DLD. Literacy tasks were rated the most difficult across stakeholder groups. However, comparison between stakeholder groups showed statistically significant differences between ratings for six (of seven) areas of functioning. Statistically significant differences were identified when rating the difficulty of four (of seven) school-based task subscales. Additional time and visual supports were rated the most helpful educational supports across groups. Overall, teachers and allied health professionals rated areas of functioning and school-based tasks as more difficult than parents/caregivers, although they shared similar perspectives on five (of six) educational support subscales., Conclusions & Implications: Literacy and language/communication are the areas of functioning rated to be most impacting learning for students with DLD. However, literacy tasks were reported to be the most difficult for students with DLD to complete. Teachers, allied health professionals and parents/caregivers are recommended to regularly discuss the areas of functioning, school-based tasks and educational support to facilitate inclusive educational practices. Future research needs to consider the perspectives of students with DLD., What This Paper Adds: What is already known on the subject There is extensive evidence demonstrating the increased risk of academic failure for students with DLD, particularly with literacy and numeracy. Although research on academic achievement or individual groups has occurred, limited research has compared stakeholders supporting students with DLD, which is vital for collaboration and optimal inclusive educational practices. What this study adds to the existing knowledge Teachers, allied health professionals and parents/caregivers have unique roles in the education of students with DLD and show differing perspectives that may link to these roles. Literacy and language/communication were the areas of functioning rated as most impacting learning, whilst literacy tasks were the most difficult activity undertaken at school for primary and secondary school-aged students with DLD. Additional time and visual support were rated as the most helpful educational supports for students with DLD. What are the practical and clinical implications of this work? Stakeholders demonstrate variable views on the areas of functioning and school-based tasks requiring support for students with DLD; however, they agreed on the helpfulness of most educational supports. Participants rated social/emotional tasks easier and their related supports less helpful than other areas of functioning. Given the associations between academic underachievement and mental health difficulties, more consideration needs to be given to the social/emotional well-being of students with DLD in school. Taken together, establishing differences in perspective will help with the implementation of inclusive educational practices., (© 2024 Royal College of Speech and Language Therapists.)
- Published
- 2025
- Full Text
- View/download PDF
6. Using social media to share universal messages about early language and literacy development with parents and caregivers.
- Author
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Dunstan K, Smith H, Melvin K, Ziegenfusz S, Cronin A, and Scarinci N
- Abstract
Purpose: Health promotion and prevention interventions to support children's early language and literacy development are essential, however little is known about how social media can be used in this context. This study evaluated an intervention which aimed to build capacity of parents in supporting children's language and literacy skills, implemented using Facebook., Method: A cross-sector partnership of Australian speech-language pathologists developed a suite of universal messages for parents to support their child's language development. Messages were delivered across 12 weeks via Facebook. A convergent mixed methods study design was used to evaluate survey responses from parents of children aged 0-5 years, before ( n = 136) and after the intervention ( n = 61). Social media analytics were collected., Result: Participants identified social media was a helpful way to receive information about supporting their child's language and literacy development, reporting an increase in knowledge following the intervention. Participants reported they trusted information provided in Facebook posts as it was from professionals and evidence-based sources. The usability (i.e. look and layout) was generally rated highly., Conclusion: Social media is a valuable tool for speech-language pathologists to deliver universal messages. Future social media initiatives should be co-designed with families and social media professionals to ensure delivery of trusted, consistent, and user-friendly information.
- Published
- 2024
- Full Text
- View/download PDF
7. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
- Author
-
Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, and Morgan AT
- Subjects
- Child, Humans, Chromosome Mapping, Causality, Brain, Histone-Lysine N-Methyltransferase, Speech Disorders genetics, Apraxias genetics
- Abstract
Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we aimed to identify molecular causation in 70 unrelated probands ascertained with CAS. We performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, structural and short tandem repeat variants. We prioritised appropriate variants arising de novo or inherited that were expected to be damaging based on in silico predictions. We identified high confidence variants in 18/70 (26%) probands, almost doubling the current number of candidate genes for CAS. Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS, while the remaining 15 occurred in genes not previously associated with this disorder. Fifteen variants arose de novo and three were inherited. We provide further novel insights into the biology of child speech disorder, highlighting the roles of chromatin organization and gene regulation in CAS, and confirm that genes involved in CAS are co-expressed during brain development. Our findings confirm a diagnostic yield comparable to, or even higher, than other neurodevelopmental disorders with substantial de novo variant burden. Data also support the increasingly recognised overlaps between genes conferring risk for a range of neurodevelopmental disorders. Understanding the aetiological basis of CAS is critical to end the diagnostic odyssey and ensure affected individuals are poised for precision medicine trials., (© 2022. The Author(s).)
- Published
- 2023
- Full Text
- View/download PDF
8. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
- Author
-
Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, and Morgan AT
- Published
- 2023
- Full Text
- View/download PDF
9. A systematic review of the academic achievement of primary and secondary school-aged students with developmental language disorder.
- Author
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Ziegenfusz S, Paynter J, Flückiger B, and Westerveld MF
- Abstract
Background and Aims: The ability to communicate is a fundamental skill required to participate in school. Students with Developmental Language Disorder (DLD) have persistent and significant language difficulties that impact daily functioning. However, the impact of DLD on the academic achievement of primary and secondary school-aged students has received limited attention., Methods: A systematic review of the empirical research published between 2008 and 2020 was undertaken to identify studies that have examined the academic achievement of school-aged students with DLD within curriculum areas. A total of 44 studies were identified that met inclusion criteria for review., Results: Students with DLD demonstrated difficulties with academic achievement across all measured curriculum areas compared to their typically developing peers. Most studies focused on literacy skills, including reading, spelling, writing and narratives., Conclusions and Implications: The performance of students with DLD was heterogeneous with individual students demonstrating relative strengths in some areas of academic achievement. The implications of these results for educational practices and future research are discussed., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2022.)
- Published
- 2022
- Full Text
- View/download PDF
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