Sound-based cough peak flow estimation in patients with neuromuscular disorders.

INTRODUCTION/AIMS: Cough impairment is common in individuals with neuromuscular disorders and is associated with respiratory infections and shorter survival. Cough strength is assessed by measuring cough peak flow (CPF) using a flow meter, but this method requires a complex device setup and trained staff. The aim of the study is to evaluate the reliability of a smartphone app to estimate CPF based on cough sounds in a cohort of individuals with neuromuscular disorders. METHODS: Individuals with neuromuscular disorders underwent CPF measurement with a flow meter and a smartphone app. A CPF <270 L/min was considered abnormal. RESULTS: Of the 50 patients studied, 26 had amyotrophic lateral sclerosis (52%), 15 had hereditary myopathies (30%), and 9 had myasthenia gravis (18%). The intraclass correlation coefficient (ICC) between the CPF measured with a flow meter and CPF estimated with cough sounds was 0.774 (p < .001) even if the patients had orofacial weakness (ICC = 0.806, p < .001). The smartphone app had 94.4% sensitivity and 100% specificity to detect patients with CPF of less than 270 L/min. DISCUSSION: Our findings suggest that sounds measured with a smartphone app provide a reliable estimate of CPF in patients with neuromuscular disorders, even in the presence of with orofacial weakness. This may be a convenient way to monitor respiratory involvement in patients with neuromuscular disorders, but larger studies of more diverse patient cohorts are needed.

Risk factors and outcome of epilepsy in adults with cerebral palsy or intellectual disability.

INTRODUCTION: Epilepsy is found in 10-60% of individuals with cerebral palsy (CP) and 5.5-35% with intellectual disability (ID). However, little is known about the long-term evolution of epilepsy among adults. The aim of the study is to describe the factors associated with epilepsy and its outcome in a population of adults with CP or ID. METHODS: This retrospective study reviewed the medical records of 306 individuals with CP/ID. All individuals underwent neurological, psychiatric, and neuropsychological follow-ups. RESULTS: In the cohort, 72.5% of the individuals had a CP diagnosis, with a mean age of 36.4 years (IQR 24.0-46.0). Epilepsy was present in 55.6% of the individuals and was associated with CP (p < 0.01), spastic subtype (p < 0.01), a higher degree of ID (p < 0.01), hemorrhagic and congenital malformation etiologies (p 0.011), abnormal neuroimaging (p < 0.01), and worse scores on motor and communication scales (p < 0.01). Drug-resistant epilepsy (DRE) (22.4%) was associated with higher scores on motor scales (p < 0.01). Additionally, 42.3% of the individuals who attempted antiseizure medication (ASM) withdrawal experienced recurrence, which was associated with epileptic activity on the electroencephalogram (EEG) (p 0.004). CONCLUSIONS: Epilepsy is a common comorbidity in adults with CP or ID and is associated with greater brain damage and a more severe phenotype. Seizure recurrence after ASM withdrawal occurred in half of the individuals and was associated with epileptic activity on the EEG.

Ultrasonographic and manometric study of the tongue as biomarkers of dysphagia in patients with amyotrophic lateral sclerosis.

BACKGROUND: The possibility of having methods to assess dysphagia in amyotrophic lateral sclerosis (ALS) patients in a minimally invasive manner could facilitate follow-up and allow performing of therapeutic interventions at earlier stages of the disease. The aim of the study was to analyze the role of tongue strength and thickness in ALS patients and their correlation with dysphagia and bulbar function. METHODS: A sample of outpatients with ALS was evaluated for demographic and clinical features. Tongue thickness and strength have been measured for each patient, and quantitative and qualitative data of the videofluoroscopy swallow study have been analyzed. RESULTS: Of the 38 ALS patients studied, 47.4% were women, and 26.3% had bulbar onset. The median time between symptom onset and the study was 24 months (IQR 11.5-48), and 55.3% of the patients were carriers of non-invasive mechanical ventilation. Tongue strength identified patients with impaired oral and pharyngeal transit and those with bolus residue scale (BRS) > 1 or penetration-aspiration scale (PAS) ≥ 3. In contrast, tongue thickness is only associated with impaired oral transit. Finally, anterior tongue strength ≤ 34 kPa and posterior tongue strength ≤ 34.5 kPa detected ALS penetrators/aspirators (PAS ≥ 3) and patients with ALS with post-swallow residue (BRS > 1). CONCLUSIONS: Our results suggest that measures that assess the functionality (strength) of the tongue are more valuable than morphological measurements (thickness) for the follow-up of patients with ALS. Alterations of the anterior and posterior lingual strength correlate with the presence of bronchoaspiration and post-swallowing residue (BRS > 1).