Taste, smell, and feeding behavior in autism: A quantitative traits study

描述（由申请人提供）：尽管长期以来对自闭症的感觉症状的认识，很少有实证研究检查了这一领域功能障碍的性质和特异性。现有的研究表明，感觉功能障碍是自闭症的一个非常重要的临床问题，并且可能与其他行为和社会缺陷的存在或发展有关。在化学感觉处理领域，有相当多的证据表明自闭症儿童对味觉和气味表现出不同寻常的反应，我们最近在味觉和气味识别的心理生理测试中记录了自闭症特有的障碍。味觉和嗅觉对进食行为都至关重要，越来越多的文献记录了自闭症儿童中限制和非典型饮食的高比例。嗅觉在哺乳动物的社会识别中也很重要。对精神分裂症的研究，以及我们最近对自闭症的研究，都发现了气味识别能力受损与社交功能障碍之间的联系。味觉和嗅觉功能在非自闭症家庭中都有聚集，并且我们假设与化学感觉缺陷相关的一些食物偏好、行为和社会症状也被发现具有亲疏性。在本项目中，我们将进一步研究自闭症的化学感觉加工及其与喂养和社会行为的关系，以及这些数量性状的熟悉性。在目标1中，我们将对175个家庭（包括一个患有自闭症的先证者、一个未受影响的兄弟姐妹和父母双方）和100个匹配良好的典型对照进行表型分析，分析他们检测和识别气味和味道的能力、食物偏好的模式和社交障碍的程度。在目标2中，我们将确定自闭症特定的化学感觉模式和相关功能，并检查这些数量特征是如何相互关联的。在目标3中，我们将确定这些特征的家族聚集性。总的来说，这项工作将为理解自闭症谱系障碍的感觉缺陷以及这些数量特征如何作为自闭症倾向增加的标志提供新的框架。公共卫生相关性：项目叙事感觉症状是自闭症患者非常重要的临床问题。在这个应用中，我们将研究自闭症患者如何处理味觉和嗅觉信息，以及这些能力的困难如何与其他临床重要症状（例如，限制饮食行为）联系起来。受越来越多关于味觉和嗅觉遗传学的文献的启发，我们还将研究这些特征在有自闭症儿童的家庭中是如何共享的。

DESCRIPTION (provided by applicant): Despite long-standing recognition of sensory symptoms in autism, few empirical studies have examined the nature and specificity of dysfunction in this domain. The extant research demonstrates that sensory dysfunction is very significant clinical problem in autism, and may furthermore be related to the presence or development of other behavioral and social deficits. Within the domain of chemosensory processing, there is considerable evidence that children with autism show unusual responses to tastes and odors, and we have recently documented autism-specific impairments in psychophysiological tests of taste and odor identification. Taste and smell are both critical for ingestive behaviors, and a growing literature documents high rates of restricted and atypical eating in children with autism. Olfaction is also critical in mammalian social identification. Research in schizophrenia, and more recently our work in autism, has found a link between impaired odor identification and social dysfunction. Both taste and olfactory functions have been shown to aggregate in non-autism families, and familiality has also been found for some of the food preference, behavioral, and social symptoms that we hypothesize are related to chemosensory deficits. In this project, we shall further investigate chemosensory processing in autism and how it is related to feeding and social behaviors, and the familiality of these quantitative traits. In Aim 1, we shall phenotype 175 families (including a proband with autism, an unaffected sibling, and both parents), and 100 well-matched typical controls, on their ability to detect and identify odorants and tastes, pattern of food preferences, and degree of social impairment. In Aim 2, we shall determine autism-specific patterns of chemosensory and related functions, and examine how these quantitative traits are interrelated. In Aim 3, we shall determine the familial aggregation of these traits. Taken together this work will provide new frameworks for understanding sensory deficits in autism spectrum disorders and how these quantitative traits can serve as markers for increased liability to ASDs. PUBLIC HEALTH RELEVANCE: Project Narrative Sensory symptoms are a very significant clinical problem for individuals with autism. In this application, we will examine how individuals with autism process taste and smell information, and how difficulties in these abilities relate to other clinically important symptoms (e.g., restricted eating behavior). Inspired by a growing literature on the genetics of taste and smell, we will also study how these traits are shared within families who have a child with autism.