What can a speech therapist contribute in mitochondrial diseases? insights from 'Mitostreet' data

The clinical manifestations of mitochondrial diseases (MD) are very heterogenous and can include almost all central nervous system functions, vision and hearing, heart and skeletal muscles, gastrointestinal tract, kidneys, endocrine glands, and haematological changes. Both speech and swallowing depend on neuromuscular functions, which can be affected in MD. Weakness of the oropharyngeal musculature (jaw, lips, tongue, velum, pharyngeal constrictors) can lead to dysarthria (neurological speech disorder) and dysphagia (swallowing disorder).

Researchers and professionals from the Radboud Center for Mitochondrial Medicine (RCMM) therefore wanted to know what the prevalence of dysarthria and dysphagia is in MD. Under supervision of Mirian Janssen in collaboration with the department of Rehabilitation, the speech therapy data of 224 patients who visited the so called ‘mitostreet’ were analyzed and published in Molecular Genetics and Metabolism on the 5^th of June.

Mitostreet is a three-day admission during which the patients are assessed by a speech and language therapist, occupational therapist, physical therapist, otolaryngologist, internist, neurologist, cardiologist, pulmonologist, rehabilitation physician, and dietician. In more than one-third of patients with MD, dysarthria and dysphagia were present. The severity of dysarthria and dysphagia was related to the severity of the MD and in some clinical phenotypes the disorders occurred more often. Therefore, predictions about speech and swallowing functions can now be more accurate. Some clinical swallowing tests, like drinking a cup of water or eating a small cracker as fast as possible, are sensitive tests to diagnose dysphagia in MD. The next step is to learn more about the progression of dysarthria and dysphagia in MD.

Read the study here: Dysarthria and dysphagia in patients with mitochondrial diseases - ScienceDirect