CENTRE FOR RESEARCH EXCELLENCE IN SPEECH AND LANGUAGE NEUROBIOLOGY (CRE-SLANG)

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

2023-01-04

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

2022-12-19

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

2022-11-03

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

2022-09-18

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and plan..

Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome

Miya St John, David J Amor, Angela T Morgan

2022-07-27

Pathogenic KAT6A variants cause syndromic neurodevelopmental disability. "Speech delay" is reported, yet none have examined specif..

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

2022-04-18

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

2022-03-21

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

2022-03-14

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

2021-06-09

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

2021-06-01

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

2021-04-27

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

2021-04-06

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

2020-12-08

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

2020-10-20

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

2020-09-01

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

2020-05-19

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despit..

What predicts nonword repetition performance?

Lauren Pigdon, Catherine Willmott, Sheena Reilly, Gina Conti-Ramsden, Angela T Morgan

2020-05-18

Despite the widespread use of nonword repetition in child neuropsychological research and clinical practice, the specific cognitiv..

Prevalence and features of comorbid stuttering and speech sound disorder at age 4 years

Rachael Unicomb, Elaina Kefalianos, Sheena Reilly, Fallon Cook, Angela Morgan

2020-03-01

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

2019-12-01

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

2019-11-20

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

2019-10-01

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

2019-10-01

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

2019-10-01

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

2019-09-01

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

2019-07-01

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

2019-07-01

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

2019-04-01

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

2019-03-01

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

2018-12-01

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

2018-11-01

Developmental language disorder (DLD) and speech sound disorder (SSD) are common, and although scientific evidence for structural ..

Aetiology of childhood apraxia of speech: A clinical practice update for paediatricians

Angela T Morgan, Richard Webster

2018-10-01

Childhood apraxia of speech (CAS) is a rare disorder of childhood that can leave a watermark of the impacts throughout the lifetim..

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

2018-10-01

This study used a prospective community-based sample to describe patterns and predictors of language development from 4 to 7 years..

A Brain Marker for Developmental Speech Disorders

Angela T Morgan, Merina Su, Sheena Reilly, Gina Conti-Ramsden, Alan Connelly, Frederigue J Liegeois

2018-07-01

OBJECTIVE: To characterize the organization of speech- and language-related white matter tracts in children with developmental spe..

Articulation or phonology? Evidence from longitudinal error data

Barbara Dodd, Sheena Reilly, Kyriaki Ttofari Eecen, Angela T Morgan

2018-01-01

Children's speech difficulties can be motor (phone misarticulation) or linguistic (impaired knowledge of phonological contrasts an..

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

2018-01-01

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

2018-01-01

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

2017-12-26

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

2017-01-01

This paper describes the continued development of a system to provide early assessment of speech development issues in children an..