Infants with Sandhoff disease typically appear normal until 3–6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture. Within 3 months of identification of difficulty in swallowing, the patient showed a significant decrease in food intake, with rapid deterioration of nutritional status. We report our case with a review of the literature.
Deglutition Disorders ; Deglutition* ; Eating ; Female ; Humans ; Infant ; Motor Skills ; Noise ; Nutritional Status ; Paralysis ; Posture ; Reflex, Startle ; Sandhoff Disease* ; Seizures

OBJECTIVE: To identify the effects of overactive bladder (OAB) symptoms on the health-related quality of life (HRQOL) in stroke patients since OAB symptoms are common in such patients, but their effects on stroke rehabilitation over time are unclear. METHODS: This study included 30 post-acute stroke patients who had been admitted for rehabilitation treatments. All participants completed a questionnaire evaluating urinary symptoms, including the Overactive Bladder Symptom Score (OABSS) and general HRQOL with a Short-Form 36 (SF-36) health survey. We assessed their performance in terms of the Function Ambulation Category, Modified Rankin Scale (MRS), Modified Barthel Index, and Mini-Mental State Examination (MMSE). All assessments were carried out twice at baseline and at 3 months. We divided patients into an OAB and non-OAB group with OABSS. A correlation analysis and multivariate regression were then performed. RESULTS: All performance scales showed an improvement over 3 months in the non-OAB group (n=18; p < 0.02), but, MRS and MMSE scores did not improve significantly in the OAB group (n=12) (p=0.15 and p=0.20, respectively). In the OAB group, the vitality and mental health scores significantly decreased over 3 months (p=0.011 and p=0,041, respectively), and the mental component summary (MCS) score showed a marginal decrease over 3 months (p=0.05). A multivariate regression analysis revealed that OAB symptoms were negatively correlated with the 3 months MCS score (B=−8.15, p=0.034). CONCLUSION: These results indicated that OAB symptoms could have negative effects on HRQOL and performance in patients suffering from a stroke.
Health Surveys ; Humans ; Mental Health ; Quality of Life* ; Rehabilitation ; Stroke* ; Urinary Bladder, Overactive* ; Walking ; Weights and Measures

OBJECTIVE: To identify the effects of overactive bladder (OAB) symptoms on the health-related quality of life (HRQOL) in stroke patients since OAB symptoms are common in such patients, but their effects on stroke rehabilitation over time are unclear. METHODS: This study included 30 post-acute stroke patients who had been admitted for rehabilitation treatments. All participants completed a questionnaire evaluating urinary symptoms, including the Overactive Bladder Symptom Score (OABSS) and general HRQOL with a Short-Form 36 (SF-36) health survey. We assessed their performance in terms of the Function Ambulation Category, Modified Rankin Scale (MRS), Modified Barthel Index, and Mini-Mental State Examination (MMSE). All assessments were carried out twice at baseline and at 3 months. We divided patients into an OAB and non-OAB group with OABSS. A correlation analysis and multivariate regression were then performed. RESULTS: All performance scales showed an improvement over 3 months in the non-OAB group (n=18; p < 0.02), but, MRS and MMSE scores did not improve significantly in the OAB group (n=12) (p=0.15 and p=0.20, respectively). In the OAB group, the vitality and mental health scores significantly decreased over 3 months (p=0.011 and p=0,041, respectively), and the mental component summary (MCS) score showed a marginal decrease over 3 months (p=0.05). A multivariate regression analysis revealed that OAB symptoms were negatively correlated with the 3 months MCS score (B=−8.15, p=0.034). CONCLUSION: These results indicated that OAB symptoms could have negative effects on HRQOL and performance in patients suffering from a stroke.
Health Surveys ; Humans ; Mental Health ; Quality of Life* ; Rehabilitation ; Stroke* ; Urinary Bladder, Overactive* ; Walking ; Weights and Measures

OBJECTIVE: To identify the clinical characteristics of proper robot-assisted gait training group using exoskeletal locomotor devices in non-ambulatory subacute stroke patients. METHODS: A total of 38 stroke patients were enrolled in a 4-week robotic training protocol (2 sessions/day, 5 times/week). All subjects were evaluated for their general characteristics, Functional Ambulatory Classification (FAC), Fugl-Meyer Scale (FMS), Berg Balance Scale (BBS), Modified Rankin Scale (MRS), Modified Barthel Index (MBI), and Mini-Mental Status Examination (MMSE) at 0, 2, and 4 weeks. Statistical analysis were performed to determine significant clinical characteristics for improvement of gait function after robot-assisted gait training. RESULTS: Paired t-test showed that all functional parameters except MMSE were improved significantly (p<0.05). The duration of disease and baseline BBS score were significantly (p<0.05) correlated with FAC score in multiple regression models. Receiver operating characteristic (ROC) curve showed that a baseline BBS score of '9' was a cutoff value (AUC, 0.966; sensitivity, 91%-100%; specificity, 85%). By repeated-measures ANOVA, the differences in improved walking ability according to time were significant between group of patients who had baseline BBS score of '9' and those who did not have baseline BBS score of '9' CONCLUSION: Our results showed that a baseline BBS score above '9' and a short duration of disease were highly correlated with improved walking ability after robot-assisted gait training. Therefore, baseline BBS and duration of disease should be considered clinically for gaining walking ability in robot-assisted training group.
Classification ; Gait Disorders, Neurologic ; Gait* ; Humans ; Physical Therapy Modalities ; Rehabilitation ; ROC Curve ; Sensitivity and Specificity ; Stroke* ; Walking