Emilie Retailleau, Claire Lefeuvre, Marie De Antonio, Françoise Bouhour, Celine Tard, Emmanuelle Salort-Campana, Emmeline Lagrange, Anthony Béhin, Guilhem Solé, Jean-Baptiste Noury, Sabrina Sacconi, Armelle Magot, Aleksandra Nadaj Pakleza, David Orlikowski, Stéphane Beltran, Marco Spinazzi, Pascal Cintas, Maxime Fournier, Fatma Bouibede, Hélène Prigent, Guillaume Nicolas, Nadjib Taouagh, Taissir El Guizani, Shahram Attarian, Azzeddine Arrassi, Dalil Hamroun, Pascal Laforêt
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引用次数: 0
Abstract
Background and purpose
Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients' daily life.
Methods
We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score.
Results
Thirty-two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047).
Conclusions
Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed.
期刊介绍:
The European Journal of Neurology is the official journal of the European Academy of Neurology and covers all areas of clinical and basic research in neurology, including pre-clinical research of immediate translational value for new potential treatments. Emphasis is placed on major diseases of large clinical and socio-economic importance (dementia, stroke, epilepsy, headache, multiple sclerosis, movement disorders, and infectious diseases).