European Journal of Human Genetics, Journal Year: 2024, Volume and Issue: unknown
Published: Dec. 9, 2024
Language: Английский
Frontiers in Human Neuroscience, Journal Year: 2024, Volume and Issue: 18
Published: April 10, 2024
Prenatal alcohol exposure (PAE) occurs in ~11% of North American pregnancies and is the most common known cause neurodevelopmental disabilities such as fetal spectrum disorder (FASD; ~2-5% prevalence). PAE has been consistently associated with smaller gray matter volumes children, adolescents, adults. A small number longitudinal studies show altered development trajectories late childhood/early adolescence, but patterns early childhood potential sex differences have not characterized young children. Using T1-weighted MRI, present study volume children (N = 42, 84 scans, ages 3-8 years) compared to unexposed 127, 450 2-8.5 years). Overall, we observed global regional group, wherein they had attenuated age-related increases more decreases relative Moreover, found pronounced PAE; females having smallest least changes all groups. This pattern may indicate reduced brain plasticity and/or accelerated maturation underlie cognitive/behavioral difficulties often experienced by PAE. In conjunction previous research on older adults PAE, our results suggest that vary age become apparent
Language: Английский
Citations
4
Biomedicines, Journal Year: 2025, Volume and Issue: 13(1), P. 239 - 239
Published: Jan. 20, 2025
Speech disorders encompass a complex interplay of neuroanatomical, genetic, and environmental factors affecting individuals’ communication ability. This review synthesizes current insights into the neuroanatomy, genetic underpinnings, influences contributing to speech disorders. Neuroanatomical structures, such as Broca’s area, Wernicke’s arcuate fasciculus, basal ganglia, along with their connectivity, play critical roles in production, comprehension, motor coordination. Advances understanding intricate brain networks involved language offer typical development pathophysiology Genetic studies have identified key genes neural migration synaptic further elucidating role mutations disorders, stuttering sound Beyond biological mechanisms, this explores profound impact psychological factors, including anxiety, depression, neurodevelopmental conditions, on individuals Psychosocial comorbidities often exacerbate complicating diagnosis treatment underscoring need for holistic approach managing these conditions. Future directions point toward leveraging testing, digital technologies, personalized therapies, alongside addressing psychosocial dimensions, improve outcomes comprehensive overview aims inform future research therapeutic advancements, particularly treating fluency like stuttering.
Language: Английский
Citations
0
medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: April 23, 2024
Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the basis linguistic differences separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization speech in 52,143 individuals, reconstructing clinical histories using large-scale data mining approach Electronic Medical Records (EMR) from entire large paediatric healthcare network. The reported frequency these was highest between 2 5 years old spanned spectrum twenty-six broad diagnoses. We used Natural Language Processing assess which degree diagnosis full-text notes were reflected ICD-10 codes. found that aphasia apraxia could be easily retrieved through codes, while stuttering phenotype only coded 12% individuals appropriate significant comorbidity neurodevelopmental conditions (30.31%) lesser with epilepsies (6.07%) movement (2.05%). most common retrievable our EMR analysis
Language: Английский
Citations
1
Brain, Journal Year: 2024, Volume and Issue: 148(2), P. 663 - 674
Published: Oct. 16, 2024
Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the basis linguistic differences separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization speech in 52 143 individuals, reconstructing clinical histories using large-scale data-mining approach electronic medical records from entire large paediatric healthcare network. The reported frequency these was highest between 2 5 years old spanned spectrum 26 broad diagnoses. We used natural processing assess degree which diagnoses full-text notes were reflected ICD-10 diagnosis codes. found that aphasia apraxia could be retrieved easily through codes, whereas stuttering phenotype coded only 12% individuals appropriate significant comorbidity neurodevelopmental conditions (30.31%) and, lesser degree, with epilepsies (6.07%) movement (2.05%). most common retrievable our analysis STXBP1 (n = 21), PTEN 20) CACNA1A 18). When assessing associations specific phenotypes, observed (P 8.57 × 10-7, 95% confidence interval 18.62-130.39) MYO7A development delay attributable hearing loss 1.24 10-5, 17.46-infinity). Finally, sub-cohort 726 whole-exome sequencing data, identified enrichment rare variants neuronal receptor pathways, addition UQCRC1 KIF17 expressive aphasia, MROH8 BCHE poor speech, USP37, SLC22A9 UMODL1 aphasia. In summary, study outlines landscape disorders, confirming complexity traits novel genotype-phenotype associations. Subgroups differ significantly respect composition monogenic aetiologies.
Language: Английский
Citations
1
Brazilian Journal of Implantology and Health Sciences, Journal Year: 2024, Volume and Issue: 6(6), P. 751 - 762
Published: June 11, 2024
Gagueira é um distúrbio caracterizado pela interrupção do fluxo e alteração ritmo da fala, incluindo a repetição de sons, sílabas palavras, bem como bloqueios prolongamentos. Essa disfluência pode gerar sofrimento aos seus portadores pelo desconforto insegurança durante o processo interação social mediado linguagem. Uma melhor compreensão dos mecanismos causais gagueira auxiliar no desenvolvimento estratégias tratamento mais eficazes. O objetivo desse estudo uma revisão narrativa literatura sobre os avanços conhecimento em relação ao papel genética na etiologia desenvolvimento. Estudos realizados gêmeos diversos países, embora com variação nos resultados, apontam maioria deles que componente genético tenha importância fatores ambientais. Nos últimos 20 anos houve grande progresso neste campo descoberta genes mutantes relacionados à também camundongos foram introduzidos estes mutantes. Todo este avanço aponta para progressivo aumento das bases neurais fenótipos, potencial favorecer tratamentos individualizados efetivos portadores.
Citations
0
Journal of Speech Language and Hearing Research, Journal Year: 2024, Volume and Issue: 67(9S), P. 3255 - 3268
Published: Aug. 22, 2024
This article introduces the
Language: Английский
Citations
0
Frontiers in Neuroscience, Journal Year: 2024, Volume and Issue: 18
Published: Sept. 24, 2024
Background Childhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor disorder. The advent whole exome sequencing (WES) and genome techniques has led to increased identification pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both identify new gene associated with CAS, confirm the disease-related role genes already reported by others. We also set out refine clinical neurodevelopmental characterization affected children, aim identifying specific, gene-related phenotypes. Methods single-center study aiming explore genetic etiology cohort 69 WES was performed families 34 children found have no copy number variants. Each these had only one child CAS. Results High-confidence (HC) were identified 7/34 probands, two whom they KAT6A CREBBP , thus confirming involvement impairment. other probands carried low-confidence (LC) genes, 20 occurred not previously UBA6, ZFHX4 be more enriched compared control individuals. Our results showed that most HC are involved epigenetic mechanisms expressed brain regions linked language acquisition processes. Conclusion findings relatively high diagnostic yield patients.
Language: Английский
Citations
0
Applied Neuropsychology Child, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 7
Published: Sept. 28, 2024
The aim was to explore and analyze of oral sensory-motor function characteristics influencing factors in children with functional dysarthria their typically developing peers. Sixty (the age range 4.0 5.9 years old, an average (4.29 ± 0.92) years, 60 normal physical examination 5.6 (4.11 0.88) were recruited. Oral Motor Assessment Scale used collect data. results this study show that the total scores gradually increase age. sensory for each group are all 1.00, no or gender differences, indicating children's functions have matured when they four old. Results indicate there is a certain relationship between allergies dysarthria. As shown, it can be concluded allergy factor onset
Language: Английский
Citations
0
Communications Biology, Journal Year: 2024, Volume and Issue: 7(1)
Published: Oct. 5, 2024
Language: Английский
Citations
0
European Journal of Human Genetics, Journal Year: 2024, Volume and Issue: unknown
Published: Dec. 9, 2024
Language: Английский
Citations
0