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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

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Title: Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Authors: Retailleau, Emilie (AUTHOR), Lefeuvre, Claire (AUTHOR), De Antonio, Marie (AUTHOR), Bouhour, Françoise (AUTHOR), Tard, Celine (AUTHOR), Salort‐Campana, Emmanuelle (AUTHOR), Lagrange, Emmeline (AUTHOR), Béhin, Anthony (AUTHOR), Solé, Guilhem (AUTHOR), Noury, Jean‐Baptiste (AUTHOR), Sacconi, Sabrina (AUTHOR), Magot, Armelle (AUTHOR), Pakleza, Aleksandra Nadaj (AUTHOR), Orlikowski, David (AUTHOR), Beltran, Stéphane (AUTHOR), Spinazzi, Marco (AUTHOR), Cintas, Pascal (AUTHOR), Fournier, Maxime (AUTHOR), Bouibede, Fatma (AUTHOR), Prigent, Hélène (AUTHOR)
Source: European Journal of Neurology. Oct2024, Vol. 31 Issue 10, p1-11. 11p.
Subjects: Percutaneous endoscopic gastrostomy, Speech therapists, Neuromuscular diseases, Body mass index, Medical registries, Glycogen storage disease type II, Aspiration pneumonia
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. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
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  Data: <searchLink fieldCode="AR" term="%22Retailleau%2C+Emilie%22">Retailleau, Emilie</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lefeuvre%2C+Claire%22">Lefeuvre, Claire</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22De Antonio%2C+Marie%22">De Antonio, Marie</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bouhour%2C+Françoise%22">Bouhour, Françoise</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tard%2C+Celine%22">Tard, Celine</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salort‐Campana%2C+Emmanuelle%22">Salort‐Campana, Emmanuelle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lagrange%2C+Emmeline%22">Lagrange, Emmeline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Béhin%2C+Anthony%22">Béhin, Anthony</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Solé%2C+Guilhem%22">Solé, Guilhem</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Noury%2C+Jean‐Baptiste%22">Noury, Jean‐Baptiste</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sacconi%2C+Sabrina%22">Sacconi, Sabrina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Magot%2C+Armelle%22">Magot, Armelle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pakleza%2C+Aleksandra+Nadaj%22">Pakleza, Aleksandra Nadaj</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Orlikowski%2C+David%22">Orlikowski, David</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Beltran%2C+Stéphane%22">Beltran, Stéphane</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spinazzi%2C+Marco%22">Spinazzi, Marco</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cintas%2C+Pascal%22">Cintas, Pascal</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fournier%2C+Maxime%22">Fournier, Maxime</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bouibede%2C+Fatma%22">Bouibede, Fatma</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Prigent%2C+Hélène%22">Prigent, Hélène</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Oct2024, Vol. 31 Issue 10, p1-11. 11p.
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  Data: <searchLink fieldCode="DE" term="%22Percutaneous+endoscopic+gastrostomy%22">Percutaneous endoscopic gastrostomy</searchLink><br /><searchLink fieldCode="DE" term="%22Speech+therapists%22">Speech therapists</searchLink><br /><searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Body+mass+index%22">Body mass index</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+registries%22">Medical registries</searchLink><br /><searchLink fieldCode="DE" term="%22Glycogen+storage+disease+type+II%22">Glycogen storage disease type II</searchLink><br /><searchLink fieldCode="DE" term="%22Aspiration+pneumonia%22">Aspiration pneumonia</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=179773691
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        Value: 10.1111/ene.16428
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