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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]

BACKGROUND: Sleep-disordered breathing (SDB) is frequent in patients with spinal-cord injury (SCI). However, SDB is frequently underdiagnosed due to limited access to diagnostic testing and knowledge about the condition. Moreover, SDB heterogeneity (sleep apnea, obstructive sleep apnea or central sleep apnea and nocturnal alveolar hypoventilation) implies complex evaluation of both nocturnal respiratory effort and hypercapnia. The aim of this study was to compare different screening strategies for an SDB diagnosis in patients with SCI. METHODS: This was a retrospective analysis of data from subjects with SCI followed up in a tertiary-care rehabilitation center with a specialized sleep unit. Subjective (questionnaires) and objective data (polysomnography [PSG]), ... extracted from the PSG, morning blood gases, and nocturnal transcutaneous CO2 (...) were collected and analyzed. A retrospective comparison of different strategies for SDB screening was carried out. Each strategy was compared (alone and in combination) with the standard of care for sleep apnea (PSG) and nocturnal alveolar hypoventilation (...) diagnosis. The performance of the usual cutoff and visual analysis was studied. RESULTS: Among 190 subjects with SCI who underwent a full night's PSG, data were available for 104 questionnaires and 162 with oximetry. Nocturnal alveolar hypoventilation was screened by ... and blood gases in 52 subjects with SCI. Questionnaires (the modified Screening for Obstructive Sleep Apnea in Tetraplegia and the Epworth Sleepiness Scale) had poor performance for identifying sleep apnea and did not identify nocturnal alveolar hypoventilation. ... (oxygen desaturation index score ≥ 13) and visual analysis of were good at identifying sleep apnea but insufficient to identify nocturnal alveolar hypoventilation. Diurnal blood gases were poor predictors of nocturnal alveolar hypoventilation. CONCLUSIONS: Questionnaires were of limited use in subjects with SCI, but the oxygen desaturation index derived from oximetry performed well for sleep apnea screening. Both diurnal blood gases and oximetry visual analysis were insufficient for nocturnal alveolar hypoventilation screening. ... monitoring should be mandatory and ideally combined with PSG given the heterogeneity of SDB phenotypes and associated sleep comorbidities of patients with SCI. [ABSTRACT FROM AUTHOR]

Background: Oropharyngeal dysphagia (OD) commonly occurs in neuromuscular diseases (NMD). Appropriate management involves early detection, clinical evaluation, and tailored follow‐up to minimize complications. Various assessment tools exist, including the Sydney Swallow Questionnaire (SSQ), a patient‐reported outcome measure for assessing OD severity in adult patients. This paper proposes utilizing an innovative risk matrix (OD‐Risk‐Matrix) to enhance SSQ interpretation. This matrix categorizes OD risk for each SSQ question, offering valuable assistance to clinicians. Methods: This study analyzes SSQ results from a cohort of individuals with NMD (n = 57). Patients filled in the SSQ during outpatient visits at our neuromuscular center. Subsequently, SSQ scores were grouped by NMD conditions and interpreted using the OD‐Risk‐Matrix categorizing each question's risk as low, moderate, or high. This matrix is based on the SSQ results by categorizing the risk of OD for each question, as well as the likelihood of occurrence of OD. Key Results: In light of the OD‐Risk‐Matrix, the interpretation of SSQ scores revealed various risk categories associated with each question, while also highlighting distinct OD characteristics and discrepancies among the different NMDs. Conclusion and Inferences: In conclusion, the OD‐Risk‐Matrix offers a framework for interpreting the SSQ, revealing variations in the risks of OD among different questions in patients with NMD. This novel approach could be a valuable tool in SSQ interpretation to identify specific fields of OD and could lead to a tailored management plan, prioritizing interventions aimed at reducing the risk of aspiration, ensuring proper nutrition, and enhancing swallowing safety and efficiency. [ABSTRACT FROM AUTHOR]

• Weight gain in people with physical disabilities is becoming a public health issue. • Analysis of resting energy expenditure is interesting for this population. • Used equations overestimated the resting energy expenditure for people with physical disabilities. • Indirect calorimetry is a useful tool. To evaluate the accuracy of 4 equations validated for the general population to determine resting energy expenditure (REE) in polio survivors. A descriptive, ambispective, single-center observational cohort study of minimal risk care. Tertiary university care hospital. DATAPOL database of polio survivors followed up in a specialist department (N=298). None. REE measurement by indirect calorimetry and estimated REE using 4 equations and comparing the values with indirect calorimetry. Analysis of correlations between measured REE and weight, height, and body mass index (BMI) and indicators of severity of polio sequelae. Of the 298 polio cases in the database between January 2014 and May 2017, 41 were included (19 men and 22 women). Mean±SD BMI was 26.0±5.6 kg/m2 (56.1% below 25). Measured REE correlated significantly and positively with weight and weaker with BMI. Correlations between measured and estimated REE were strong (between 0.49 and 0.59); correlations were strongest for the simplified World Health Organization and the Harris and Benedict equations. However, the equations systematically overestimated REE by more than 20%, especially in men. We calculated a correction factor for the World Health Organization scale: −340.3 kcal/d for women and −618.8 kcal/d for men. Analysis of REE is important for polio survivors; The use of estimation equations could lead to the prescription of a nonadapted diet. We determined a correction factor that should be validated in prospective studies. [ABSTRACT FROM AUTHOR]