Objectives: The purposes of this study are to determine whether there is a correlation between the Mann Assessment of Swallowing Ability (MASA) and modified MASA (mMASA) according to various cognitive status and to investigate whether the cognitive status of patients with brain damage affects the prediction of aspiration using the MASA.Methods: We retrospectively assessed 146 dysphagic patients with brain lesion due to various causes. Dysphagia was assessed using the MASA and mMASA. According to the videofluoroscopic swallowing study results, patients were divided into two groups: aspirators and non-aspirators. Patients were classified into four groups according to cognitive function according to the Korean version of Mini-mental State Examination scores: normal (>24), mild (21–24), moderate (10–20), and severe (<10) cognitive impairment. The correlation between the MASA and mMASA scores according to cognitive function were analyzed. The sensitivity, specificity, and positive and negative predictive values of the MASA scores for predicting aspiration were assessed.Results: The MASA and mMASA scores showed a significant positive correlation in all cognition groups. In patients with more severe cognitive impairment MASA scores had high sensitivity and low specificity for prediction of aspiration. On the other hand, the MASA scores had low sensitivity and high specificity for prediction of aspiration in the normal and mild cognitive impairment groups.Conclusions: The MASA and mMASA scores correlated with each other in patients with various levels of cognitive function. Interestingly, this study results demonstrated that patients with good cognitive function may have false negative results of MASA screening due to low sensitivity. Thus, when interpreting the MASA results, the impact of cognitive status should be taken into consideration.

BackgroundSjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported.Case presentationWe describe a young woman with spastic diplegia and intellectual disability who began to show progressive neurological deterioration from 12 years of age, with the onset of dystonia and tremor. She was initially diagnosed with spastic cerebral palsy and periventricular leukomalacia based on brain magnetic resonance imaging. Follow-up brain imaging from 13 years of age did not reveal apparent changes, though abnormal electroencephalographic findings occurred in parallel with her decline in motor function. By 19 years of age, she had developed dysphagia and became completely dependent on others for most activities of daily living. Ultimately, whole-exome sequencing revealed a heterozygous compound mutation in the ALDH3A2 gene that corresponds to Sjogren-Larsson syndrome: an exon 9 deletion (1291-1292delAA) from the mother and an exon 5 splicing mutation (798 + 1delG) from the father. Neuroregression has been reported in preschool children after seizures requiring treatment, though our patient did not experience any immediate causal events. This report summarizes the clinical, radiologic, and electrophysiological findings observed over a decade concurrent with neurological deterioration after the onset of dystonia and tremor at the age of developmental ceiling in Sjogren-Larsson syndrome.ConclusionsIn addition to the influence of additive variants or other environmental factors, accumulation of metabolites due to defective fatty aldehyde dehydrogenase is a potential pathomechanism of neurodegeneration in this patient. Neurological deterioration may be a presentation that is unnoticed in Sjogren-Larsson syndrome due to the rarity of the disease. This report highlights a unique clinical feature of Sjogren-Larsson syndrome with progressive neurodegeneration associated with dystonia and tremor.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0663-0) contains supplementary material, which is available to authorized users.