Understanding speech and swallowing difficulties in individuals with Huntington disease: Validation of the HDQLIFE Speech Difficulties and Swallowing Difficulties Item Banks.

PURPOSE: As Huntington disease (HD) progresses, speech and swallowing difficulties become more profound. These difficulties have an adverse effect on health-related quality of life (HRQOL), thus psychometrically robust measures of speech and swallowing are needed to better understand the impact of these domains across the course of the disease. Therefore, the purpose of this study is to establish the clinical utility of two new patient-reported outcome measures (PROs), HDQLIFE Speech Difficulties and HDQLIFE Swallowing Difficulties. METHODS: Thirty-one participants with premanifest or manifest HD, and 31 age- and sex-matched healthy control participants were recruited for this study. Participants completed several PROs [HDQLIFE Speech Difficulties, HDQLIFE Swallowing Difficulties, Communication Participation Item Bank (CPIB)], as well as several clinician-rated assessments of speech and functioning. A computational algorithm designed to detect features of spoken discourse was also examined. Analyses were focused on establishing the reliability and validity of these new measures. RESULTS: Internal consistency was good for Swallowing (Cronbach's alpha = 0.89) and excellent for Speech and the CPIB (both Cronbach's alpha ≥ 0.94), and convergent/discriminant validity was supported. Known groups validity for the PROs was supported by significant group differences among control participants and persons with different stages of HD (all p < 0.0001). All PROs were able to distinguish those with and without clinician-rated dysarthria (likelihood ratios far exceeded the threshold for clinical decision making [all ≥ 3.28]). CONCLUSIONS: Findings support the clinical utility of the HDQLIFE Speech and Swallowing PROs and the CPIB for use across the HD disease spectrum. These PROs also have the potential to be clinically useful in other populations.

Skew deviation as the initial manifestation of left paramedian thalamic infarction.

We describe a 73-year-old man who developed diplopia as the initial manifestation of a left thalamic infarction. By the time he reached the emergency department, clouded consciousness precluded localization of the lesion. Results of brain MRI were initially interpreted as negative. Ophthalmologic examination several hours later disclosed a small vertical ocular misalignment attributed to skew deviation. This finding led to careful scrutiny of the upper brainstem on MRI. Comparison of the diffusion, apparent diffusion coefficient, and exponential apparent diffusion coefficient MRI studies allowed a diagnosis of subtle left thalamic infarction. The recognition of skew deviation in this setting is important because it may be the most specific indicator of a brainstem lesion.