CENTRE FOR RESEARCH EXCELLENCE IN SPEECH AND LANGUAGE NEUROBIOLOGY (CRE-SLANG)
Grant number: 1116976 | Funding period: 2016 - 2021
Half a million Australian children have a speech/language disorder, tripling their changes of poor academic outcomes, limited employment options and social isolation. Current speech therapy is limited, focusing on symptoms and ignoring evidence on underlying aetiologies. By identifying and translating findings on new genes and brain pathways leading to speech and language disorders, we will transform detection, diagnosis, prognosis and genetic counselling of affected children and their families.
Related publications (38)
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
Lottie DD Morison, Olivia Van Reyk, Elana Forbes, Flavien Rouxel, Laurence Faivre, Fiona Bruinsma, Marie Vincent, Marie-Line Jacquemont, Natalie LL Dykzeul, David Genevieve, David JJ Amor, Angela TT Morgan
Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associat..
Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
Miya St John, Olivia van Reyk, David A Koolen, Bert BA de Vries, David J Amor, Angela T Morgan
Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here ..
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra
BACKGROUND: Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apra..
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold
Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and plan..
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
Lottie D Morison, Ruth O Braden, David J Amor, Amanda Brignell, Bregje WM van Bon, Angela T Morgan
Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systema..
Self-reported impact of developmental stuttering across the lifespan
Jessica O Boyce, Victoria E Jackson, Olivia van Reyk, Richard Parker, Adam P Vogel, Else Eising, Sarah E Horton, Nathan A Gillespie, Ingrid E Scheffer, David J Amor, Michael S Hildebrand, Simon E Fisher, Nicholas G Martin, Sheena Reilly, Melanie Bahlo, Angela T Morgan
AIM: To examine the phenomenology of stuttering across the lifespan in the largest prospective cohort to date. METHOD: Participant..
Atypical development of Broca's area in a large family with inherited stuttering
Daisy GY Thompson-Lake, Thomas S Scerri, Susan Block, Samantha J Turner, Sheena Reilly, Elaina Kefalianos, Alexandra F Bonthrone, Ingo Helbig, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand, Frederique J Liegeois, Angela T Morgan
Developmental stuttering is a condition of speech dysfluency, characterized by pauses, blocks, prolongations and sound or syllable..
Severe speech impairment is a distinguishing feature of FOXP1-related disorder
Ruth O Braden, David J Amor, Simon E Fisher, Cristina Mei, Candace T Myers, Heather Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C Swanson, Himanshu Goel, Ingrid E Scheffer, Angela T Morgan
AIM: To delineate the speech and language phenotype of a cohort of individuals with FOXP1-related disorder. METHOD: We administere..
A Modeling-Guided Case Study of Disordered Speech in Minimally Verbal Children With Autism Spectrum Disorder
Karen Chenausky, Amanda Brignell, Angela T Morgan, Andrea C Norton, Helen B Tager-Flusberg, Gottfried Schlaug, Frank H Guenther
Purpose Understanding what limits speech development in minimally verbal (MV) children with autism spectrum disorder (ASD) is impo..
Speech and language deficits are central to SETBP1 haploinsufficiency disorder
Angela Morgan, Ruth Braden, Maggie MK Wong, Estelle Colin, David Amor, Frederique Liegeois, Siddharth Srivastava, Adam Vogel, Varoona Bizaoui, Kara Ranguin, Simon E Fisher, Bregje W van Bon
Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygou..
Speech, Language, and Oromotor Skills in Patients With Polymicrogyria
Ruth O Braden, Jessica O Boyce, Chloe A Stutterd, Kate Pope, Himanshu Goel, Richard J Leventer, Ingrid E Scheffer, Angela T Morgan
OBJECTIVE: To determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymic..
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
Amanda Brignell, Conway Gu, Alison Holm, Bronwyn Carrigg, Daisy A Sheppard, David J Amor, Angela T Morgan
Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype..
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, David Coman, Benjamin Kamien, Susan M White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A Gold, John Christodoulou
Factor analysis of signs of childhood apraxia of speech
Karen Chenausky, Amanda Brignell, Angela Morgan, Danielle Gagne, Andrea Norton, Helen Tager-Flusberg, Gottfried Schlaug, Aaron Shield, Jordan R Green
PURPOSE: To investigate the latent factors underlying signs of childhood apraxia of speech (CAS) in a group of 57 children with CA..
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma
OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despit..
Prevalence and features of comorbid stuttering and speech sound disorder at age 4 years
Rachael Unicomb, Elaina Kefalianos, Sheena Reilly, Fallon Cook, Angela Morgan
BACKGROUND: Stuttering and speech sound disorder may co-occur during early childhood, although the exact rate of comorbidity in a ..
Grey matter volume in developmental speech and language disorder
Lauren Pigdon, Catherine Willmott, Sheena Reilly, Gina Conti-Ramsden, Christian Gaser, Alan Connelly, Angela T Morgan
Developmental language disorder (DLD) and developmental speech disorder (DSD) are common, yet their etiologies are not well unders..
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response
Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Shelly A Buffington, Redwan Huq, N Tony Eissa, Ola Larsson, Bo T Porse, Deepti Domingo, Urwah Nawaz, Renee Carroll, Lachlan Jolly, Tom S Scerri, Hyung-Goo Kim, Amanda Brignell, Matthew J Coleman, Ruth Braden, Usha Kini
In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism..
Expansion of phenotype of DDX3X syndrome: six new cases
Bryony Beal, Ian Hayes, Julie McGaughran, David J Amor, Christina Miteff, Victoria Jackson, Olivia van Reyk, Gopinath Subramanian, Michael S Hildebrand, Angela T Morgan, Himanshu Goel
Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. ..
Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech
Samantha J Turner, Adam P Vogel, Bronwyn Parry-Fielder, Rhonda Campbell, Ingrid E Scheffer, Angela T Morgan
OBJECTIVE: The clinical course of childhood apraxia of speech (CAS) is poorly understood. Of the few longitudinal studies in the f..
Speech and language in bilateral perisylvian polymicrogyria: a systematic review
Ruth O Braden, Richard J Leventer, Anna Jansen, Ingrid E Scheffer, Angela T Morgan
AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polym..
Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report
Jessica O Boyce, Katherine Sanchez, David J Amor, Sheena Reilly, Annette Da Costa, Nicky Kilpatrick, Angela T Morgan
BACKGROUND: Submucous cleft palate (SMCP) has a heterogeneous presentation and is often identified late or misdiagnosed. Diagnosis..
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development
Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael S Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan, Lawrence D Shriberg, Simon E Fisher
Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. O..
Predictors and growth in receptive vocabulary from 4 to 8 years in children with and without autism spectrum disorder: A population-based study
Amanda Brignell, Tamara May, Angela T Morgan, Katrina Williams
Few studies have examined growth and predictors of receptive vocabulary in children with autism spectrum disorder. Here we aimed t..
Dorsal language stream anomalies in an inherited speech disorder
Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan
Speech disorders are highly prevalent in the preschool years, but frequently resolve. The neurobiological basis of the most persis..
Speech and language in children with Klinefelter syndrome
Miya St John, Charlotte Ponchard, Olivia van Reyk, Cristina Mei, Lauren Pigdon, David J Amor, Angela T Morgan
BACKGROUND: Speech and language deficits are frequent in males with Klinefelter syndrome (KS), yet the research base is slim and s..
Characterization of speech and language phenotype in children with NRXN1 deletions
Amanda Brignell, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S Hildebrand, David J Amor, Angela T Morgan
Neurexin 1 gene (NRXN1) deletions are associated with several neurodevelopmental disorders. Communication difficulties have been r..
Altered gray matter volumes in language-associated regions in children with developmental language disorder and speech sound disorder
Florian Kurth, Eileen Luders, Lauren Pigdon, Gina Conti-Ramsden, Sheena Reilly, Angela T Morgan
Developmental language disorder (DLD) and speech sound disorder (SSD) are common, and although scientific evidence for structural ..
Patterns and Predictors of Language Development from 4 to 7 Years in Verbal Children With and Without Autism Spectrum Disorder
Amanda Brignell, Katrina Williams, Kim Jachno, Margot Prior, Sheena Reilly, Angela T Morgan
This study used a prospective community-based sample to describe patterns and predictors of language development from 4 to 7 years..
A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder
Amanda Brignell, Angela T Morgan, Susan Woolfenden, Felicity Klopper, Tamara May, Vanessa Sarkozy, Katrina Williams
Background: Language difficulties are common in autism spectrum disorder, yet little is known about the prognosis of language in c..
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
Angela T Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E Fisher, David A Koolen
Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiti..
Atypical Callosal Morphology in Children with Speech Sound Disorder
Eileen Luders, Florian Kurth, Lauren Pigdon, Gina Conti-Ramsden, Sheena Reilly, Angela T Morgan
Speech sound disorder (SSD) is common, yet its neurobiology is poorly understood. Recent studies indicate atypical structural and ..
Improving child speech disorder assessment by incorporating out-of-domain adult speech
Daniel Smith, Alex Sneddon, Lauren Ward, Andreas Duenser, Jill Freyne, David Silvera-Tawil, Angela Morgans
This paper describes the continued development of a system to provide early assessment of speech development issues in children an..