Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.

Objective: Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great variability in phenotypic expression. As new therapeutic options make their appearance on the scene, sensitive clinical tools and outcome measures are needed, especially in adult patients undergoing treatment, in which the expected clinical response is a mild improvement or stabilization of disease progression. Methods: Here, we describe a new functional motor scale specifically designed for evaluating the endurance dimension for the upper and lower limbs in adult SMA patients. Results: The scale was first tested in eight control healthy subjects and then validated in ten adult SMA patients, proving intra- and inter-observer reliability. We also set up an evaluation protocol by using wearable devices including surface EMG and accelerometer. Conclusions: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.

A preliminary study on self-care telemonitoring of dysarthria in spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a rare neuromuscular disease which may cause impairments in oro-facial musculature. Most of the individuals with SMA present bulbar signs such as flaccid dysarthria which mines their abilities to speak and, as consequence, their psychic balance. To support clinicians, recent work has demonstrated the feasibility of video-based techniques for assessing the oro-facial functions in patients with neurological disorders such as amyotrophic lateral sclerosis. However, no work has so far focused on automatic and quantitative monitoring of dysarthria in SMA. To overcome limitations this work's aim is to propose a cloud-based store-and-forward telemonitoring system for automatic and quantitative evaluation of oro-facial muscles in individuals with SMA. The system integrates a convolutional neural network (CNN) aimed at identifying the position of facial landmarks from video recordings acquired via a web application by an SMA patient.Clinical relevance- The proposed work is in the preliminary stage, but it represents the first step towards a better understanding of the bulbar-functions' evolution in patients with SMA.

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

Due to poor data in literature, we aimed to investigate the respiratory function in a large cohort of naïve Italian adult (≥18 years) SMA patients in a multi-centric cross-sectional study. The following respiratory parameters were considered: forced vital capacity (FVC), forced expiratory volume in one second (FEV1) and need for non-invasive ventilation (NIV). We included 145 treatment-naïve adult patients (SMA2=18, SMA3=125; SMA4=2), 58 females (40 %), with median age at evaluation of 37 years (range 18-72). Fifty-six (37 %) and 41 (31 %) patients had abnormal (<80 %) values of FVC and FEV1, respectively. Fourteen (14 %) patients needed NIV, started at median age of 21 (range 4-68). Motor function, measured by Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module as well as SMA2, loss of walking ability, surgery for scoliosis, use of NIV, and cough assisting device (CAD) were all significantly associated to lower FVC and FEV1 values, while no association with age at baseline, disease duration, gender or 6 min walking test was observed, except for a correlation between FVC and age in SMA3 walkers (p < 0.05). In conclusion, respiratory function in adult SMA patients is relatively frequently impaired, substantially stable, and significantly correlated with motor function and disease severity.

A deep learning-based telemonitoring application to automatically assess oral diadochokinesis in patients with bulbar amyotrophic lateral sclerosis.

BACKGROUND AND OBJECTIVES: Timely identification of dysarthria progression in patients with bulbar-onset amyotrophic lateral sclerosis (ALS) is relevant to have a comprehensive assessment of the disease evolution. To this goal literature recognized the utmost importance of the assessment of the number of syllables uttered by a subject during the oral diadochokinesis (DDK) test. METHODS: To support clinicians, this work proposes a remote deep learning-based system, which consists (i) of a web application to acquire audio tracks of bulbar-onset ALS patients and healthy control subjects while performing the oral DDK test (i.e., repeating the /pa/, /pa-ta-ka/ and /oo-ee/ syllables) and (ii) a DDK-AID network designed to process the acquired audio signals which have different duration and to output the number of per-task syllables repeated by the subject. RESULTS: The DDK-AID network overcomes the comparative method achieving a mean Accuracy of 90.23 in counting syllables repeated by the eleven bulbar-onset ALS-patients while performing the oral DDK test. CONCLUSIONS: The proposed remote monitoring system, in the light of the achieved performance, represents an important step towards the implementation of self-service telemedicine systems which may ensure customised care plans.

Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

OBJECTIVE: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. METHODS: Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). RESULTS: The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow-up = 36.9 ± 19 years). Six of the 169 patients were presymptomatic, 8 were classified as type II, 145 as type III (38 type IIIA and 107 type IIIB), and 8 as type IV. The remaining 2 patients were asymptomatic adults identified because of a familial case. The cross-sectional functional data showed a reduction of scores with increasing age. Over 35% of the type III and 25% of the type IV lost ambulation (mean age = 26.8 years ± 16.3 SD). The risk of loss of ambulation was significantly associated with SMA type (p < 0.0001), with patients with IIIB and IV less likely to lose ambulation compared to type IIIA. There was an overall gender effect with a smaller number of women and a lower risk for women to lose ambulation. This was significant in the adult (p = 0.009) but not in the pediatric cohort (p = 0.43). INTERPRETATION: Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age. ANN NEUROL 2023;94:1126-1135.

Heart Failure Preserved Ejection Fraction in Women: Insights Learned from Imaging.

While the prevalence of heart failure, in general, is similar in men and women, women experience a higher rate of HFpEF compared to HFrEF. Cardiovascular risk factors, parity, estrogen levels, cardiac physiology, and altered response to the immune system may be at the root of this difference. Studies have found that in response to increasing age and hypertension, women experience more concentric left ventricle remodeling, more ventricular and arterial stiffness, and less ventricular dilation compared to men, which predisposes women to developing more diastolic dysfunction. A multi-modality imaging approach is recommended to identify patients with HFpEF. Particularly, appreciation of sex-based differences as described in this review is important in optimizing the evaluation and care of women with HFpEF.

A store-and-forward cloud-based telemonitoring system for automatic assessing dysarthria evolution in neurological diseases from video-recording analysis.

BACKGROUND AND OBJECTIVES: Patients suffering from neurological diseases may develop dysarthria, a motor speech disorder affecting the execution of speech. Close and quantitative monitoring of dysarthria evolution is crucial for enabling clinicians to promptly implement patients' management strategies and maximizing effectiveness and efficiency of communication functions in term of restoring, compensating or adjusting. In the clinical assessment of orofacial structures and functions, at rest condition or during speech and non-speech movements, a qualitative evaluation is usually performed, throughout visual observation. METHODS: To overcome limitations posed by qualitative assessments, this work presents a store-and-forward self-service telemonitoring system that integrates, within its cloud architecture, a convolutional neural network (CNN) for analyzing video recordings acquired by individuals with dysarthria. This architecture - called facial landmark Mask RCNN - aims at locating facial landmarks as a prior for assessing the orofacial functions related to speech and examining dysarthria evolution in neurological diseases. RESULTS: When tested on the Toronto NeuroFace dataset, a publicly available annotated dataset of video recordings from patients with amyotrophic lateral sclerosis (ALS) and stroke, the proposed CNN achieved a normalized mean error equal to 1.79 on localizing the facial landmarks. We also tested our system in a real-life scenario on 11 bulbar-onset ALS subjects, obtaining promising outcomes in terms of facial landmark position estimation. DISCUSSION AND CONCLUSIONS: This preliminary study represents a relevant step towards the use of remote tools to support clinicians in monitoring the evolution of dysarthria.

The impact of cognitive function deficits and their recovery on functional outcome in subjects affected by ischemic subacute stroke: results from the Italian multicenter longitudinal study CogniReMo.

BACKGROUND: The recovery of independence in activities of daily living is a fundamental goal of rehabilitation programs in subjects affected by subacute stroke. Rehabilitation is focused both on motor and cognitive aspects, and some evidence has reported cognitive deficits as prognostic factors of motor recovery. However, rehabilitation is a dynamic process during which executive functions and motor functions should be improved. AIM: The aim of the study is to evaluate the relationships between impairments in cognitive functions and recovery of functional independence in stroke patients during the subacute phase. DESIGN: Multicenter observational study. SETTING: Intensive rehabilitation units. POPULATION: A sample of 319 stroke patients in subacute phase (70.6±11.6 years, 40.4% females), consecutively admitted from November 2019 to July 2021 at sixteen rehabilitation centers were enrolled in this observational, prospective and multicentric study with longitudinal assessments. METHODS: Cognitive and functional assessments were performed at hospital admission and discharge, including Oxford Cognitive Screen, modified Barthel Index, Functional Independent Measure, Fugl-Meyer assessment scale and National Institutes of Health Stroke Scale. RESULTS: A regression analysis identified five predictors (out of about 200 tested variables) of functional recovery related to four aspects assessed at admission: functional status (P<0.001), lower limb functioning (P=0.002), attention (P=0.011), and executive functions (P=0.017). Furthermore, patients who recovered deficits in executive functions had the same recovery of those without deficits, whereas those who maintained deficits had a smaller recovery (P=0.019). CONCLUSIONS: The relationship between cognitive and motor deficits is increasingly highlighted and the recovery of executive functions deficits seems to contribute to motor recovery. CLINICAL REHABILITATION IMPACT: Our results suggest that the recovery of executive functions may promote the recovery of the functional outcome of the patient with subacute stroke. Future treatment protocols may benefit from paying more attention to the recovery of executive functions.

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

OBJECTIVE: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. METHODS: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. RESULTS: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). DISCUSSION: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

BACKGROUND: Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients. METHODS: Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years). RESULTS: We included 64 (38.8%) females and 101 (61.2%) males (p=0.0025), among which 21 (12.7%) SMA2, 141 (85.5%) SMA3 and 3 (1.8%) SMA4. Ratio of sitters/walkers within the SMA3 subgroup was significantly (p=0.016) higher in males (46/38) than in females (19/38). Median age at onset was significantly (p=0.0071) earlier in females (3 years; range 0-16) than in males (4 years; range 0.3-28), especially in patients carrying 4 SMN2 copies. Median Hammersmith Functional Rating Scale Expanded scores were significantly (p=0.0040) lower in males (16, range 0-64) than in females (40, range 0-62); median revised upper limb module scores were not significantly (p=0.059) different between males (24, 0-38) and females (33, range 0-38), although a trend towards worse performance in males was observed. In SMA3 patients carrying three or four SMN2 copies, an effect of female sex in prolonging ambulation was statistically significant (p=0.034). CONCLUSIONS: Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.

Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen.

OBJECTIVE: To retrospectively evaluate quality of life (QoL) in a large multicenter cohort of adult patients affected by spinal muscular atrophy (SMA) during nusinersen treatment. METHODS: We included adult (≥ 18 years) patients clinically and genetically defined as SMA2, SMA3 and SMA4, who started nusinersen treatment in adulthood. QoL was rated by the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Concurrent motor function evaluation included the Hammersmith Functional Motor Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM), the 6 min walking test (6MWT). RESULTS: 189 completed questionnaires were collected during a 14 months' treatment period. 78 patients were included (7 SMA2 and 69 SMA3 and 2 SMA4) with mean disease duration at first nusinersen administration of 33.2 years (± 12.5 years). All the scores for each INQoL domain (weakness, fatigue, activities, independence, social relationship, emotions, body images) and the derived QoL total score, significantly improved during the observation period, except the muscle locking and pain items. Exploratory analyses suggested that emotions and social relationships were more relevant issues for females compared to males. Social relationships were affected also by a longer disease duration (> 30 years). In SMA3 non-walker patients, activities ameliorate better compared to walkers. The HFMSE and RULM significantly improved from baseline; however, no associations with QoL total score and weakness, activities or independence were demonstrated. CONCLUSION: In our cohort, adult SMA patients showed a global improvement at the INQoL assessment over 14 months of nusinersen treatment. QoL assessment is relevant to SMA multidisciplinary evaluation.

Ventricular Fibrillation Recurrences in Successfully Shocked Out-of-Hospital Cardiac Arrests.

Background and Objectives: The prognostic impact of ventricular fibrillation (VF) recurrences after a successful shock in out-of-hospital cardiac arrest (OOHCA) is still poorly understood, and some evidence suggests a potential pro-arrhythmic effect of chest compressions in this setting. In the present analysis, we looked at the short-term and long-term prognosis of VF recurrences in OOHCA. And their potential association with chest compressions. Materials and Methods: The Progetto Vita, prospectively collecting data on all resuscitation efforts in the Piacenza province (Italy), was used for the present analysis. From the 461 OOHCAs found in a shockable rhythm, only those with optimal ECG tracings and good audio recordings (160) were assessed. Rhythms other than VF post-shock were analyzed five seconds after shock delivery and survival to hospital admission, hospital discharge, and long-term survival data over a 14-year follow-up were collected. Results: Population mean age was 64.4 ± 16.9 years, and 31.9% of all patients were female. Mean time to EMS arrival was 5.9 ± 4.5 min. Short- and long-term survival without neurological impairment were higher in patients without VF recurrence when compared to patients with VF recurrence, independently from the pre-induction rhythm (p < 0.001). After shock delivery, VF recurrence was higher when chest compressions were resumed early after discharge and more vigorously. Conclusions: VF recurrences after a shock could worsen short and long-term survival. The potential pro-arrhythmic effect of chest compressions should be factored in when considering the real risks and benefits of this procedure.

Endovascular treatment and cognitive outcome after anterior circulation ischemic stroke.

The impact of reperfusion therapies on cognition has been poorly explored and little knowledge exists. We explored the influence of endovascular treatment (EVT) on cognitive outcome in patients with anterior circulation ischemic stroke. Patients presenting with ischemic stroke due to anterior large vessel occlusion who underwent intravenous thrombolysis (IVT) alone or EVT plus IVT were recruited. Cognitive abilities were evaluated at 6 months from stroke through a neuropsychological test battery. A total of 88 patients with a mean age of 66.3 ± 12.9 years were included, of which 38 treated with IVT alone and 50 with IVT plus EVT. Compared to patients treated with IVT alone, patients who received EVT plus IVT performed significantly better at the neuropsychological tests exploring executive functions, attention, abstract reasoning, visuospatial ability, visual and verbal and memory. At multivariable regression analysis, the EVT was independently associated with the 6-month cognitive performance after the adjustment for age, sex, admission National Institutes of Health Stroke Scale score, systolic blood pressure, glucose level, Alberta Stroke Program Early CT score, side of stroke, site of occlusion, and Back Depression Inventory score [Stroop Test Word Reading: adjß = 13.99, 95% confidence interval (CI) 8.47-19.50, p < 0.001; Stroop Test Colour Naming: adjß = 6.63, 95% CI 2.46-10.81, p = 0.002; Trail Making Test-A: adjß = - 92.98, 95% CI - 153.76 to - 32.20, p = 0.003; Trail Making Test-B: adjß = - 181.12, 95% CI - 266.09 to - 96.15; p < 0.001; Digit Span Test Forward: adjß = 1.44, 95% CI 0.77-2.10, p < 0.001; Digit Span Test Backward: adjß = 1.10, 95% CI 0.42-1.77, p = 0.002; Coloured Progressive Matrices: adjß = 5.82, 95% CI 2.71-8.93, p < 0.001; Rey Complex Figure Test-Copy: adjß = 6.02, 95% CI 2.74-9.30, p < 0.001; Rey Complex Figure Test-Immediate recall: adjß = 6.00, 95% CI 2.34-9.66, p = 0.002; Rey Complex Figure Test-Delayed recall: adjß = 5.73, 95% CI 1.95-9.51, p = 0.003; Rey Auditory Verbal Learning Test-Immediate recall: adjß = 12.60, 95% CI 6.69-18.52, p < 0.001; Rey Auditory Verbal Learning Test-Delayed recall: adjß = 1.85, 95% CI 0.24-3.45, p = 0.025]. Patients treated with EVT plus IVT had better cognitive performance than patients treated with IVT alone at 6 months from anterior circulation ischemic stroke.

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.

OBJECTIVE: To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA). METHODS: Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6). RESULTS: We included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18-72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, p<0.0001), T10 (+2, p<0.0001) and T14 (+3, p<0.0001). HFMSE changes were independently significant in SMA3 sitter and walker subgroups. The Revised Upper Limb Module (RULM) in SMA3 significantly improved between T0 and T14 (median +0.5, p=0.012), with most of the benefit observed in sitters (+2, p=0.018). Conversely, patients with SMA2 had no significant changes of median HFMSE and RULM between T0 and the following time points, although a trend for improvement of RULM was observed in those with some residual baseline function. The rate of patients showing clinically meaningful improvements (as defined during clinical trials) increased from 53% to 69% from T6 to T14. CONCLUSIONS: Our data provide further evidence of nusinersen safety and efficacy in adult SMA2 and SMA3, with the latter appearing to be cumulative over time. In patients with extremely advanced disease, effects on residual motor function are less clear.

An Early Tailored Approach Is the Key to Effective Rehabilitation in the Intensive Care Unit.

OBJECTIVE: To investigate the effectiveness, feasibility, and safety of an evidence-based rehabilitation care pathway in the intensive care unit (ICU) in different patient populations. DESIGN: Observational prospective cohort study, with retrospective controls. SETTING: ICUs of a university hospital. PARTICIPANTS: Patients admitted between April 1, 2015, and June 30, 2015, were compared to a retrospective cohort admitted to the same ICUs during the same 3-month period in 2014. The number of patients studied (N=285) included 152 in the prospective group and 133 in the retrospective group. INTERVENTIONS: The prospective cohort benefited of a rehabilitation care pathway based on (1) interdisciplinary teamwork; (2) early customized and goal-oriented rehabilitation; (3) daily functional monitoring and treatment revision; (4) agreed discharge policy; and (5) continuity of care. The retrospective cohort underwent usual care. MAIN OUTCOME MEASURES: Included the following: (1) proportions of patients undergoing rehabilitation team evaluation; (2) latency between patient admission to ICUs and rehabilitation team assessment; (3) proportions of patients undergoing rehabilitation treatment during ICU stay; (4) latency between the patient admission to ICUs and rehabilitation start; (5) ICU stay and total acute hospital stay; and (5) proportion of ventilator-free days out of ICU stay. RESULTS: The novel rehabilitation care pathway led to (1) an increased proportion of patients receiving rehabilitative assessment (P<.0001); (2) a decreased latency from ICU admission to both rehabilitation team assessment and rehabilitation start (P<.0001); (3) an increased proportion of patients undergoing rehabilitation (P<.0001); (4) a shorter length of stay in ICUs (P<.0001) and in hospital (P=.047); and (5) a shorter mechanical ventilation duration (P<.02). A direct relationship between rehabilitation start latency and ICU length of stay was observed. CONCLUSIONS: An early, interdisciplinary team approach, providing a customized dynamic planning of physiotherapy programs, increases ventilator-free time and reduces total hospital stay, especially in patients admitted to the ICU after general surgery. This rehabilitation care pathway can be generalized to different geopolitical scenarios, being feasible, safe and cost effective.

Using the Oxford Cognitive Screen to Detect Cognitive Impairment in Stroke Patients: A Comparison with the Mini-Mental State Examination.

BACKGROUND: The Oxford Cognitive Screen (OCS) was recently developed with the aim of describing the cognitive deficits after stroke. The scale consists of 10 tasks encompassing five cognitive domains: attention and executive function, language, memory, number processing, and praxis. OCS was devised to be inclusive and un-confounded by aphasia and neglect. As such, it may have a greater potential to be informative on stroke cognitive deficits of widely used instruments, such as the Mini-Mental State Examination (MMSE) or the Montreal Cognitive Assessment, which were originally devised for demented patients. OBJECTIVE: The present study compared the OCS with the MMSE with regards to their ability to detect cognitive impairments post-stroke. We further aimed to examine performance on the OCS as a function of subtypes of cerebral infarction and clinical severity. METHODS: 325 first stroke patients were consecutively enrolled in the study over a 9-month period. The OCS and MMSE, as well as the Bamford classification and NIHSS, were given according to standard procedures. RESULTS: About a third of patients (35.3%) had a performance lower than the cutoff (<22) on the MMSE, whereas 91.6% were impaired in at least one OCS domain, indicating higher incidences of impairment for the OCS. More than 80% of patients showed an impairment in two or more cognitive domains of the OCS. Using the MMSE as a standard of clinical practice, the comparative sensitivity of OCS was 100%. Out of the 208 patients with normal MMSE performance 180 showed impaired performance in at least one domain of the OCS. The discrepancy between OCS and MMSE was particularly strong for patients with milder strokes. As for subtypes of cerebral infarction, fewer patients demonstrated widespread impairments in the OCS in the Posterior Circulation Infarcts category than in the other categories. CONCLUSION: Overall, the results showed a much higher incidence of cognitive impairment with the OCS than with the MMSE and demonstrated no false negatives for OCS vs MMSE. It is concluded that OCS is a sensitive screen tool for cognitive deficits after stroke. In particular, the OCS detects high incidences of stroke-specific cognitive impairments, not detected by the MMSE, demonstrating the importance of cognitive profiling.

Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases.

BACKGROUND: Dysphagia is a critical symptom of Neuromuscular Diseases and is often associated with considerable morbidity and mortality. OBJECTIVE: This study is designed to investigate the prevalence of dysphagia and to identify different clinical profiles of swallowing disorders in Myotonic Dystrophy type 1 (DM1) and Amyotrophic Lateral Sclerosis (ALS), the most common Neuromuscular Diseases in the adult age. METHODS: Consecutive DM1 and ALS patients from 2013 to 2015 referred to a Centre for Neuromuscular Disease were enrolled. A comprehensive assessment of swallowing function with a Clinical Swallowing Examination and Fluid and Food Trials was performed. RESULTS: 157 patients were included: 86 ALS, 71 DM1. The dysphagic patients affected by ALS and DM1 (79% and 86% of the respective samples) showed two different profiles. ALS patients with dysphagia were older and underweight. They experienced a global dysfunction of the oral and pharyngeal phases with more difficulty in swallowing thin liquids. Conversely, DM1 patients with dysphagia were younger and tended to obesity. Most of them showed impairment of oral phase and had more frequently difficulty in swallowing solid bolus. CONCLUSION: The recognition of specific clinical profiles supports and guides the detection of swallowing disorders in patients with neuromuscular diseases.

Selective associative phonagnosia after right anterior temporal stroke.

We report the case of a 48 year old men who developed a selective impairment in famous voice recognition after ischemic stroke in right subcortical structures (lenticular nucleus and head of the caudate) and right anterior temporal lobe. He underwent fibrinolytic treatment. During the following days he progressively recovered and was discharged without neurological focal sign. Patent foramen ovale was found. When he got back to his house he noticed that he was unable to recognize the voice of his favoured singers and needed to ask who was the singer to his relatives. Neuropsychological examination revealed a selective impairment in famous voice recognition in the absence of alteration of voice perception, face perception and famous face recognition. All other neuropsychological domains were spared. In particular language, memory and executive functions were intact. Neuroimaging carried out by means of PET and MRI revealed two small ischemic lesions in the right subcortical region, involving lenticular and caudate nuclei and in the right temporal pole. To our knowledge, this is the first case described in literature of a patient showing a selective associative phonagnosia after right anterior temporal stroke. The present case helps to clarify the brain circuits underlying famous voice recognition and adds evidence in favour of a right hemisphere involvement in processing knowledge of familiar voices. These findings are discussed in relation to current models of brain organization of person-specific and general semantic knowledge.