Phenotypic characteristics in DS of relevance for the framework Figure 1 presents the framework, with the original conceptualization along with the extension to language and literacy, as it relates to DS. Our extensions in DS include: (1) application of the framework within the context of the distinctive phenotypically linked structural and functional characteristics associated with DS, and (2) consideration of the potential downstream impacts of the phenotypic oropharyngeal characteristics in DS on language and early literacy skills, thus extending the analysis beyond swallowing to speech and related linguistic functions. Moreover, our approach is consistent with recommendations for critical directions in DS research as suggested by an expert panel ( Hendrix et al., 2020). Although we acknowledge the critical role of environmental factors as well, for the sake of space we focus primarily on the body functions and structures within DS. The framework is also consistent with the World Health Organization’s International Classification of Functioning ( Centers for Disease Control, n.d.), with a particular focus on the effects of the characteristics associated with DS on body functions and structures and, in turn, activities and participation. To improve precision interventions in DS, an integrated understanding of the unique phenotypical characteristics is an important early step. This may be because management approaches used in DS often “borrow” techniques from other populations ( Neil and Jones, 2018), however, these other populations do not have the syndrome-specific structural, functional, or physiologic dysmorphologies characteristic in DS. We chose to expand this integrated framework to the DS population because despite our knowledge of heightened swallowing, speech, language, and literacy problems in individuals with DS, it has not consistently translated to improved clinical outcomes. These needs are often missed in models that are applicable to clinical populations. One example is that older adults without a diagnosis related to dysphagia typically do not report swallowing changes, and instead make self-determined compensations like changing their diet or avoiding foods, which may be the result of early dysphagia and lead to negative consequences ( Roy et al., 2007 Madhavan, 2020). This model was developed because of the unique needs in healthy older adults. This framework takes as its starting point a model introduced by the first and third authors that considered food selection, swallow, and speech in healthy older individuals ( Etter and Madhavan, 2020). This article proposes a multidimensional theoretical framework for understanding how characteristics associated with the phenotype of Down syndrome (DS) may influence performance of swallow behavior and production of intelligible speech, as well as impacting language development and foundational literacy outcomes such as phonemic awareness and phoneme-grapheme correspondence. We briefly discuss how the basis of this framework can be used to direct future research studies in swallowing, speech, and language and be applied to other clinical populations. The purpose of this paper is to review the functional impact of structural and sensory alterations on skilled orofacial behaviors in DS as well as related skills in language and literacy development. Given the increased risk of dysphagia and “silent” aspiration in individuals with DS, it is likely somatosensory deficits are present as well. Individuals with DS experience known craniofacial anomalies that impact their oropharyngeal somatosensation and skilled motor output for functional oral-pharyngeal activities such as speech and swallowing. We discuss this framework with specific reference to individuals with Down syndrome (DS). In this review paper, we present an integrated biophysiological framework for modeling how sensory and motor changes alter functional oropharyngeal behaviors of speech and swallowing, as well as the potential downstream effects to the related areas of language and literacy. Due to the shared anatomy, speech and swallowing are often both impacted in individuals with various neurogenic and developmental diseases, disorders, or injuries. Efficient swallowing and accurate speech require a coordinated interplay between multiple streams of sensory feedback and skilled motor behaviors. Speech and swallowing are complex sensorimotor behaviors accomplished using shared vocal tract anatomy. Department of Communication Sciences and Disorders, The Pennsylvania State University, University Park, PA, United States. Aarthi Madhavan *†, Larissa Lam, Nicole M.
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