Publications by authors named "Bronwyn Parry-Fielder"
Article Synopsis
- - Childhood apraxia of speech (CAS) is a severe speech disorder linked to motor planning and genetic factors, with many cases involving specific gene mutations.
- - In a study of 70 individuals with CAS, researchers used genome sequencing to identify damaging genetic variants, discovering high-confidence variants in 26% of participants and doubling the number of known candidate genes related to CAS.
- - The findings highlight the significance of chromatin organization and gene regulation in CAS, suggest shared genetic risks with other neurodevelopmental disorders, and stress the importance of understanding these genetic causes for better diagnosis and treatment options.
Objective: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).
View Article and Find Full Text PDFObjective: The clinical course of childhood apraxia of speech (CAS) is poorly understood. Of the few longitudinal studies in the field, only one has examined adolescent outcomes in speech, language, and literacy. This study is the first to report long-term speech, language, and academic outcomes in an adolescent, Liam, with CAS.
View Article and Find Full Text PDFSpeech disorders are highly prevalent in the preschool years, but frequently resolve. The neurobiological basis of the most persistent and severe form, apraxia of speech, remains elusive. Current neuroanatomical models of speech processing in adults propose two parallel streams.
View Article and Find Full Text PDFObjective: To establish the genetic basis of Landau-Kleffner syndrome (LKS) in a cohort of two discordant monozygotic (MZ) twin pairs and 11 isolated cases.
Methods: We used a multifaceted approach to identify genetic risk factors for LKS. Array comparative genomic hybridization (CGH) was performed using the Agilent 180K array.
Earlier research has suggested a link between epileptiform activity in the electroencephalogram (EEG) and developmental speech-language disorder (DSLD). This study investigated the strength of this association by comparing the frequency of EEG abnormalities in 45 language-normal children (29 males, 16 females; mean age 6y 11mo, SD 1y 10mo, range 4y-9y 10mo) and 54 community-ascertained children (35 males, 19 females; mean age 5y 7mo, SD 1y 6mo, range 4y-9y 11mo) with a diagnosis of severe DSLD, defined as a score at least 2 SD below the mean on at least one speech-language measure, and a performance IQ of at least 80 points. All participants underwent sleep EEGs after sedation.
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