Speech and Language, Murdoch Children's Research Institute, Parkville, VIC, Australia; Department of Audiology and Speech Pathology, University of Melbourne, VIC, Australia.
Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Neurosci Biobehav Rev. 2023 Sep;152:105293. doi: 10.1016/j.neubiorev.2023.105293. Epub 2023 Jun 22.
Speech and language development are complex neurodevelopmental processes that are incompletely understood, yet current evidence suggests that speech and language disorders are prominent in those with disorders of chromatin regulation. This review aimed to unravel what is known about speech and language outcomes for individuals with chromatin-related neurodevelopmental disorders. A systematic literature search following PRISMA guidelines was conducted on 70 chromatin genes, to identify reports of speech/language outcomes across studies, including clinical reports, formal subjective measures, and standardised/objective measures. 3932 studies were identified and screened and 112 were systematically reviewed. Communication impairment was core across chromatin disorders, and specifically, chromatin writers and readers appear to play an important role in motor speech development. Identification of these relationships is important because chromatin disorders show promise as therapeutic targets due to the capacity for epigenetic modification. Further research is required using standardised and formal assessments to understand the nuanced speech/language profiles associated with variants in each gene, and the influence of chromatin dysregulation on the neurobiology of speech and language development.
言语和语言发展是复杂的神经发育过程，目前尚未完全了解，但现有证据表明，在染色质调节紊乱的患者中，言语和语言障碍较为突出。本综述旨在阐明与染色质相关的神经发育障碍患者的言语和语言预后情况。我们按照 PRISMA 指南对 70 个染色质基因进行了系统的文献检索，以确定跨研究报告的言语/语言结果，包括临床报告、正式的主观测量以及标准化/客观测量。共确定并筛选了 3932 项研究，并对 112 项进行了系统综述。沟通障碍是所有染色质疾病的核心问题，特别是染色质 writers 和 readers 似乎在运动言语发展中起着重要作用。鉴定这些关系很重要，因为由于表观遗传修饰的能力，染色质疾病具有作为治疗靶点的潜力。需要进一步使用标准化和正式评估来研究与每个基因的变异相关的细微言语/语言特征，以及染色质失调对言语和语言发育的神经生物学的影响。
