The Molecular Convergence of Birdsong and Speech

Deshpande, Mugdha; Lints, Thierry

doi:10.1007/978-1-4614-8400-4_6

Cited by 2 publications

(1 citation statement)

References 546 publications

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“…The FOXP2 gene may play a significant role in the establishment of a putative frontostriatal network, which is associated with the function of learning, planning, and execution in the speech motor sequences, similar to that engaged in other types of motor abilities (Liégeois et al 2003). In the avian striatum, FOXP2 expression is controlled by singing, suggesting the prospect that developmental verbal dyspraxia resulting from human FOXP2 mutation may largely represent a loss in ongoing brain signaling, rather than developmental miswiring (Deshpande and Lints 2013). Alternatively, genes DLX5 and SYT4 , which are affected by FOXP2 , are essential for brain development and function (Meng et al 2020).…”

Section: Discussionmentioning

confidence: 99%

A Genome-wide Association Study Identifies Novel Genetic Variants Associated with Neck or Shoulder Pain in the UK Biobank (N = 441,757)

Tao,

Pan,

Cai

et al. 2024

Preprint

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Neck and shoulder pain are prevalent musculoskeletal disorders that significantly impact the quality of life for a substantial portion of the global population. Studies have shown that women are more susceptible than men. This study aims to discover genetic variants associated with neck or shoulder pain through a genome-wide association study (GWAS), using data from 441,757 participants in the UK Biobank. The primary GWAS revealed five significant genetic loci (including two novel) associated with neck or shoulder pain, with the most significant single nucleotide polymorphism (SNP) being rs9889282 (p= 2.63 x 10-12) nearCA10on chromosome 17. Two novel significant associations were detected on chromosomes 18 and 14, with the top SNPs being rs4608411 (p= 8.20 x 10-9) nearTCF4and rs370565192 (p= 3.80 x 10-8) inDCAF5, respectively. The female-specific GWAS identified two significant loci including one nearCA10and one nearLINC02770on chromosome 1 with the top SNP being rs5779595 (p= 3.57 x 10-8). The male-specific GWAS identified one locus inSLC24A3on chromosome 20 with the top SNP being rs16980973 (p= 6.52 x 10-9). The tissue expression analysis revealed a significant association between brain tissues and neck or shoulder pain. In summary, this study has identified novel genetic variants for neck or shoulder pain. Sex-stratified GWAS also suggested that gender played a role in the occurrence of the phenotype.

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Section: Discussionmentioning

confidence: 99%

A Genome-wide Association Study Identifies Novel Genetic Variants Associated with Neck or Shoulder Pain in the UK Biobank (N = 441,757)

Tao,

Pan,

Cai

et al. 2024

Preprint

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A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker

Shriberg

Strand

Fourakis

et al. 2017

J Speech Lang Hear Res

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Purpose The goal of this article (PM I) is to describe the rationale for and development of the Pause Marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech from speech delay. Method The authors describe and prioritize 7 criteria with which to evaluate the research and clinical utility of a diagnostic marker for childhood apraxia of speech, including evaluation of the present proposal. An overview is given of the Speech Disorders Classification System, including extensions completed in the same approximately 3-year period in which the PM was developed. Results The finalized Speech Disorders Classification System includes a nosology and cross-classification procedures for childhood and persistent speech disorders and motor speech disorders (Shriberg, Strand, & Mabie, 2017). A PM is developed that provides procedural and scoring information, and citations to papers and technical reports that include audio exemplars of the PM and reference data used to standardize PM scores are provided. Conclusions The PM described here is an acoustic-aided perceptual sign that quantifies one aspect of speech precision in the linguistic domain of phrasing. This diagnostic marker can be used to discriminate early or persistent childhood apraxia of speech from speech delay.

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The Molecular Convergence of Birdsong and Speech

Cited by 2 publications

References 546 publications

A Genome-wide Association Study Identifies Novel Genetic Variants Associated with Neck or Shoulder Pain in the UK Biobank (N = 441,757)

A Genome-wide Association Study Identifies Novel Genetic Variants Associated with Neck or Shoulder Pain in the UK Biobank (N = 441,757)

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker

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