Vanderbilt Kennedy Center, Vanderbilt University, Nashville, TN 37203, USA.
Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Brain Sci. 2014 Nov 21;4(4):594-612. doi: 10.3390/brainsci4040594.
Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD) populations, amusia has recently been documented in Williams syndrome (WS), a genetic, neurodevelopmental disorder with a unique auditory phenotype including auditory sensitivities and increased emotional responsiveness to music but variable musical skill. The current study used structural T1-weighted magnetic resonance imaging and diffusion tensor imaging to examine neural correlates of amusia in 17 individuals with WS (4 of whom met criteria for amusia). Consistent with findings from TD amusics, amusia in WS was associated with decreased fractional anisotropy (FA) in the right superior longitudinal fasciculus (SLF). The relationship between amusia and FA in the inferior component of the SLF was particularly robust, withstanding corrections for cognitive functioning, auditory sensitivities, or musical training. Though the number of individuals with amusia in the study is small, results add to evidence for the role of fronto-temporal disconnectivity in congenital amusia and suggest that novel populations with developmental differences can provide a window into understanding gene-brain-behavior relationships that underlie musical behaviors.
先天性失乐症的定义是音高感知和产生方面的明显缺陷。尽管先天性失乐症在历史上仅在其他方面发育正常(TD)的人群中进行了检查,但最近在威廉姆斯综合征(WS)中也有记录,WS 是一种遗传、神经发育障碍,具有独特的听觉表型,包括听觉敏感性和对音乐的情绪反应增强,但音乐技能各不相同。本研究使用结构 T1 加权磁共振成像和弥散张量成像来研究 17 名 WS 个体(其中 4 名符合失乐症标准)的失乐症的神经相关性。与 TD 失乐症的发现一致,WS 中的失乐症与右侧上纵束(SLF)的分数各向异性(FA)降低有关。SLF 下份与失乐症之间的关系特别稳健,经得起认知功能、听觉敏感性或音乐训练的校正。尽管该研究中患有失乐症的个体数量较少,但结果增加了额颞部不连接在先天性失乐症中的作用的证据,并表明具有发育差异的新人群可以提供一个了解音乐行为的基因-大脑-行为关系的窗口。