Affiliations: [a]
Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milano, Italy
| [b]
Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milano, Italy
| [c]
Department of Diagnostics and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
| [d]
Department of Oncology and Hemato-Oncology, University of Milan, Milano, Italy
Correspondence:
[*]
Correspondence to: Nicole Pizzorni, SLP, PhD, Phoniatric Unit, Department of Biomedical and Clinical Sciences “L. Sacco”, Università degli Studi di Milano, Via GB Grassi 74, 20154 Milano, Italy. Tel.: +39 347 2807302; E-mail: [email protected].
Abstract: Background:Oropharyngeal dysphagia (OD) is a common symptom in Huntington’s disease (HD) and is associated with severe health and psychosocial consequences. Different OD phenotypes are defined on the basis of characteristic patterns at fiberoptic endoscopic evaluation of swallowing (FEES), and they may vary during disease progression. Objective:To describe OD phenotypes in different HD stages and to analyze their association with neurological data and tongue pressure measurements. Methods:Twenty-four patients with HD at different stages of disease progression underwent a FEES. Data on penetration/aspiration, pharyngeal residue, and OD phenotypes were gained. Neurological examination was performed with the Unified Huntington’s Disease Rating Scale (UHDRS). Patient Maximum tongue pressure (MTP) and tongue endurance were measured. Results:We confirmed that the occurrence of penetration/aspiration increased with disease duration and pharyngeal residue increased from 16.7% to 100%, respectively. The most common OD phenotypes were oropharyngeal dyspraxia (91.7%), posterior oral incontinence (87.5%), and delayed pharyngeal phase (87.5%). These types of dysfunctions are already detectable in >80% of patients in the early disease stages. In more advanced stages, we also observed propulsion deficit (66.7%), resistive issue (54.2%), and protective deficit (37.5%). Propulsion deficit was associated with higher disease stage, greater motor dysfunction (UHDRS-I), and lower MTP and tongue endurance (p < 0.05). Conclusions:OD in HD results from a combination of different swallowing phenotypes. Early assessment of swallowing and periodical follow-ups are necessary to monitor OD severity and phenotypes and to revise diet recommendations.
