Introduction

Barth syndrome is a rare X-linked genetic disorder caused by a mutation or deletion of the tafazzin gene. Approximately 50–70% of affected males have family-reported feeding issues that affect eating habits and/or restrict dietary intake. Research to date suggests that these feeding problems may be related to differences in responsivity to taste and smell stimuli. The purpose of this study was to use indices of chemosensory function to study differences in food-related sensation and anatomy in males with and without Barth syndrome.

Methodology

A cross-sectional two-group comparison design was used. Participants included 34 males with Barth syndrome between 5 and 34 years of age and 34 age-matched controls. Measures included the number of fungiform papillae on the anterior dorsal surface of the tongue and scores on the Sniffin’ Sticks olfactory threshold test.

Results

Fungiform papilla counts did not differ significantly between males with and without Barth syndrome, suggesting that altered oral anatomy does not contribute to reported taste and feeding problems in this population. Olfactory thresholds significantly differed between groups; the Barth syndrome sample had a lower threshold for odor detection, indicating greater olfactory sensitivity. These objective measures match self-report data from the Barth syndrome population indicating that they perceive themselves as having a heighted sense of smell compared to others.

Conclusions

This study supports previous behavioral research indicating that olfactory sensitivity is heightened in the Barth syndrome population. Although differences in oral anatomy did not occur, previous research suggests that specific oral sensory cues (e.g., bitterness, texture) may be especially salient in Barth syndrome.

Implications

Since this is the first study to identify differences in odor threshold in the Barth syndrome population, findings should be corroborated with future research. These efforts should include odor, taste, and tactile cues at both threshold and suprathreshold concentrations. Results suggest, however, that interventions to address feeding and dietary needs of the Barth syndrome population should consider how food-related stimuli can be modified in order to facilitate appetite and reduce food refusal.

中文翻译：

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患有和不患有Barth综合征的男性的真菌状乳头数目和嗅觉阈值评估

介绍

Barth综合征是由tafazzin基因的突变或缺失引起的罕见的X连锁遗传病。大约50–70％的受影响男性有家庭报告的进食问题，这些问题会影响饮食习惯和/或限制饮食摄入。迄今为止的研究表明，这些喂养问题可能与对味觉和嗅觉刺激的反应能力不同有关。这项研究的目的是使用化学感应功能指数来研究患有和不患有Barth综合征的男性与食物相关的感觉和解剖结构的差异。

方法

使用了横截面两组比较设计。参与者包括34位年龄在5至34岁之间的Barth综合征男性和34位年龄匹配的对照组。测量方法包括舌前背表面上的真菌状乳突的数量，以及Sniffin's Sticks嗅觉阈值测试的得分。

结果

患有和不患有Barth综合征的男性之间的真菌状乳头计数没有显着差异，这表明口腔解剖结构的改变不会导致该人群的口感和进食问题。两组之间的嗅觉阈值显着不同。Barth综合征样本的气味检测阈值较低，表明嗅觉敏感性更高。这些客观测量与来自Barth综合征人群的自我报告数据相匹配，表明与其他人相比，他们认为自己具有较高的嗅觉。

结论

这项研究支持以前的行为研究，表明在Barth综合征人群中嗅觉敏感性增强。尽管在口腔解剖学上没有差异，但是先前的研究表明，特定的口腔感觉提示（例如苦味，质地）在Barth综合征中尤其明显。

含义

由于这是确定Barth综合征人群中气味阈值差异的第一项研究，因此该发现应与未来的研究相佐证。这些努力应包括阈值浓度和阈值以上浓度的气味，味道和触觉提示。然而，结果表明，针对Barth综合征人群的进食和饮食需求的干预措施应考虑如何改变与食物相关的刺激，以促进食欲并减少拒绝食物。