Dysphagia in Friedreich Ataxia
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS). Data were correlated with disease parameters (age at symptom onset, age at assessment, disease duration,FXN intron 1 GAA repeat sizes, and Friedreich Ataxia Rating Scale (FARS) score). Predictors of airway penetration/aspiration were explored using logistic regression analysis. Ninety-eight percent (59/60) of participants reported dysphagia, of whom 35 (58.3%) underwent FDA-2 assessment, and 38 (63.3%) underwent VFSS. Laryngeal, respiratory, and tongue dysfunction was observed on the FDA-2. A Penetration–Aspiration Scale score above 3 (deemed significant airway compromise based on non-clinical groups) was observed on at least one consistency in 13/38 (34.2%) participants. All of those who aspirated (10/38, 26.3%) did so silently, with no overt signs of airway entry su ch as reflexive cough. Significant correlations were observed between dysphagic symptoms and disease duration and severity. No reliable predictors of ...
ConclusionOur study successfully delineated the overall clinical characteristics of Japanese BAFME. The correlation between the genetic, clinical, and electrophysiological results will be very important to further elucidate the pathophysiology and treatment of BAFME in the future.
“Teach your children well,” a Crosby, Stills, Nash &Young classic encourages. Children are impressionable, like sponges that soak up whatever liquid they are immersed in. Some parents say they’d rather have their teens drink at home than elsewhere, where they’re in danger of driving impaired. Many parents minimize or dismiss the dangers, rationalizing that because they survived their youth, particularly if they grew up in the more freewheeling 1960s and ’70s, their children will survive as well. But this attitude has the opposite effect of the intended one. “Parental attitudes favor...
The first whooping cough death in California since 2016 was confirmed Tuesday.
Updated Date: Jul 19, 2018 EST
Updated Date: Jul 19, 2018 EST
As people age, gait and balance change, leading to falls with associated morbidity and mortality , and an estimated 19 billion dollars in annual healthcare costs in the US alone . Quality of life is significantly affected by the development of fear of falling . Gait changes can be early indicators of neurodegenerative disorders such as the hypokinetic-rigid gait of Parkinson ’s disease , or neurologic manifestations of medical diseases such as sensory ataxia from neuropathy due to diabetes.
This journal article concludes that recurrent acute cough with cough-free periods of at least a week between bouts is probably due to viral colds. It presents a practical approach to diagnosis and management of the otherwise apparently healthy child with recurrent lower respiratory tract infections.
Authors: Audet O, Bui HT, Allisse M, Comtois AS, Leone M Abstract Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neuromuscular disorder caused by the mutation of the SACS gene. Clinical symptoms of this disease include progressive ataxia, spasticity, and peripheral neuropathy. Similar to other neuromuscular disorders, these patients are prone to physical deconditioning which may lead to a loss of functional capacity. This paper aims to evaluate the impact of a training program on the physical fitness and the functional capacity of ARSACS patients. Twelve patients (age: 28.1 ± 8.2 yea...
Updated Date: Jul 18, 2018 EST