Clinical predictors and neural correlates for compromised swallowing safety in Huntington disease.

BACKGROUND AND PURPOSE: Dysphagia is one of the most common and important complications in Huntington disease (HD), frequently leading to aspiration pneumonia and mortality. Objective estimates of prevalence using instrumental diagnostics and data on neural correlates of dysphagia in HD are scarce or lacking entirely. Similarly, its correlation with other clinical markers is still not fully known. We aimed at defining clinical risk factors and neural correlates for compromised swallowing safety in HD more precisely. METHODS: Thirty-four HD subjects (16 female, Shoulson & Fahn Stage I-IV, two premanifest) underwent a full clinical-neurological examination including the cranial nerves, the Unified Huntington's Disease Rating Scale total motor score, and the Mini-Mental State Examination. Fiberoptic endoscopic evaluation of swallowing (FEES) was performed by a trained speech and language therapist. Twenty-six subjects additionally underwent a high-resolution anatomical magnetic resonance imaging (MRI) scan (T1, 3-T Siemens Prisma). Moreover, we correlated clinical and atrophy (MRI) measures with swallowing safety levels as judged by the validated Penetration-Aspiration Scale. RESULTS: FEES showed penetration or aspiration in 70.6%. Using partial correlation, no significant correlations were found between swallowing safety and any of the clinical markers after correcting for disease duration and CAG repeat length. Voxel-based morphometry demonstrated atrophy associated with compromised swallowing safety in a network of parietothalamocerebellar areas related to sensorimotor communication, notably excluding striatum. CONCLUSIONS: Our results characterise dysphagia in HD as a disorder of communication between sensory and motor networks involved in swallowing. This finding and high rates of silent aspiration argue in favor of instrumental swallowing evaluation early in the disease.

Risk factors of suicidal ideation in Huntington's disease: literature review and data from Enroll-HD.

Suicide is a leading cause of death in Huntington's disease (HD), following pneumonia. Up to one-fifth of individuals with HD report suicidal ideation. Identifying the risk factors of suicidal ideation in this clinical population is thus pivotal. Here, we review the literature on prevalence rates and risk factors of suicidal ideation in premanifest and manifest patients and re-evaluate them using the largest currently existing clinical dataset from the ongoing observational study "Enroll-HD" (N = 5709). Large scale studies yielded important insights regarding suicidal ideation in HD. However, estimated prevalence rates vary among studies and risk factors are still poorly understood. According to the Enroll-HD data, pre- and manifest disease stages are associated with current (5.8-10%) and a history of suicidal ideation (18.6-30.9%). Throughout the course of HD, a history of suicidal ideation and the presence of depressive symptoms were strongly associated with current suicidal ideation. However, while for premanifest individuals, socio-demographics and activities of daily living appear to be important, in manifest patients, suicidal ideation is more closely linked to anxiety, irritability, psychosis, and apathy. These results highlight the importance of treating depressive symptoms in patients with HD and addressing potential suicidal ideation during clinical monitoring. The relevance of risk factors may differ among premanifest and manifest patients.