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1.
Muscle Nerve ; 67(5): 401-406, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36861214

RESUMEN

INTRODUCTION/AIMS: Measures for assessing cranial nerve vulnerability in spinal muscular atrophy (SMA) have not yet been determined. Motor unit number index (MUNIX) studies have shown correlations with disease severity but have been used only in limb muscles. In the present study, we explore facial nerve response, MUNIX, and motor unit size index (MUSIX) of the orbicularis oculi muscle in a cohort of patients with SMA. METHODS: Facial nerve response (measured as compound muscle action potential, CMAP), MUNIX, and MUSIX of the orbicularis oculi muscle were cross-sectionally recorded in patients with SMA and compared to healthy control subjects (HCs). Active maximum mouth opening (aMMO) was also measured at baseline in our SMA cohort. RESULTS: Thirty-seven patients with SMA (21 SMA II; 16 SMA III) and 27 HCs were recruited. CMAP of the facial nerve and MUNIX of orbicularis oculi proved to be feasible and well tolerated techniques. CMAP amplitude and MUNIX scores were significantly lower in patients with SMA compared to HCs (p < .0001). Both MUNIX and CMAP amplitude were significantly higher in patients with SMA III compared to SMA II. No significant difference emerged comparing CMAP amplitude, MUNIX and MUSIX scores between those with different functional status or nusinersen treatment. DISCUSSION: Our results provide neurophysiological evidence of facial nerve and muscle involvement in patients with SMA. CMAP of the facial nerve and MUNIX of orbicularis oculi showed high accuracy in discriminating between the various subtypes of SMA and in quantifying the motor unit loss of the facial nerve.


Asunto(s)
Atrofia Muscular Espinal , Atrofias Musculares Espinales de la Infancia , Humanos , Electromiografía/métodos , Nervio Facial , Neuronas Motoras/fisiología , Músculo Esquelético , Atrofia Muscular Espinal/diagnóstico , Potenciales de Acción/fisiología
2.
Neurol Sci ; 44(6): 2149-2157, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36694070

RESUMEN

INTRODUCTION: Myotonic dystrophy type 1 is a slowly progressive, multisystem, autosomal dominant disorder, in which the impairments of respiratory systems represent one of the main causes of death. OBJECTIVE: The aim of our study is to develop prediction models to identify the most appropriate test(s) providing indication for NIV. METHODS: DM1 patients attending the NEMO Clinical Center (Milan) between January 2008 and July 2020, who had been subjected to a complete battery of respiratory tests, were retrospectively recruited. Demographic, clinical, and anthropometric characteristics were collected, as well as arterial blood gas (ABG) analysis, spirometry, respiratory muscle strength, cough efficacy, and nocturnal oximetry as respiratory assessments. Patients were stratified in those requiring NIV and those with normal respiratory function. RESULTS: Out of 151 DM1 patients (median age: 44 years [35.00-53.00]; male/female ratio: 0.80 (67/84)), 76 had an indication for NIV initiation (50.33%). ABG, spirometry, and nocturnal oximetry prediction models resulted in an excellent discriminatory ability in distinguishing patients who needed NIV from those who did not (AUC of 0.818, 0.808, and 0.935, respectively). An easy-to-use calculator was developed to automatically determine a score of NIV necessity based on the prediction equations generated from each aforementioned prediction model. CONCLUSIONS: The proposed prediction models may help to identify which patients are at a higher risk of requiring ventilator support and therefore help in defining individual management plans and criteria for specific interventions early in the disease course.


Asunto(s)
Distrofia Miotónica , Ventilación no Invasiva , Insuficiencia Respiratoria , Humanos , Masculino , Femenino , Adulto , Distrofia Miotónica/complicaciones , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/terapia , Estudios Retrospectivos , Respiración Artificial , Análisis de los Gases de la Sangre , Insuficiencia Respiratoria/diagnóstico , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/terapia
3.
Neurol Sci ; 44(4): 1243-1249, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36547779

RESUMEN

BACKGROUND: The present study aimed at (1) providing further validity and reliability evidence for the Italian version of the cognitive section of the ALS Cognitive Behavioral Screen (ALS-CBS™) and (2) testing its diagnostics within an Italian ALS cohort, as well as at (3) exploring its capability to discriminate patients from healthy controls (HCs). METHODS: N = 293 non-demented ALS patients were administered the cognitive sections of the ALS-CBS™ and Edinburgh Cognitive and Behavioural ALS Screen (ECAS). N = 96 HCs demographically matched with N = 96 patients were also administered the cognitive section of the ALS-CBS™. In patients, factorial and construct validity, internal reliability, and diagnostics against a defective score on the cognitive section of the ECAS were tested. Case-control discrimination was assessed via a logistic regression. RESULTS: ALS-CBS™ cognitive subscales were underpinned by a simple, unidimensional structure, internally reliable (McDonald's ω = 0.74), and mostly related with ECAS executive and fluency scores (rs = 0.54-0.71). Both raw and age- and education-adjusted scores on the cognitive section of the ALS-CBS™ accurately detected ECAS-defined cognitive impairment (AUC = 0.80 and .88, respectively), yielding optimal error-based, information-based and unitary diagnostics. A cut-off of < 15.374 was identified on adjusted scores. The test was able to discriminate patients from HCs (p < 0.001). DISCUSSION: The cognitive section of the Italian ALS-CBS™ is a valid, reliable, and diagnostically sound ALS-specific screener for detecting frontotemporal, executive-/attentive-based cognitive inefficiency in non-demented ALS patients, being also able to discriminate them from normotypical individuals.


Asunto(s)
Esclerosis Amiotrófica Lateral , Trastornos del Conocimiento , Disfunción Cognitiva , Humanos , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/psicología , Reproducibilidad de los Resultados , Pruebas Neuropsicológicas , Disfunción Cognitiva/diagnóstico , Italia , Cognición/fisiología
4.
Dysphagia ; 38(6): 1568-1580, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37289231

RESUMEN

Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and walkers. In a 2-year multicentre cross-sectional prospective study, lip and tongue strength (Iowa Oral Performance Instrument), chewing and swallowing (Test of Masticating and Swallowing Solids), active mouth opening (aMMO) were compared to age-appropriate normative data. The perceived burden of oro-bulbar involvement (SMA-Health Index) was recorded. 78 patients were included, 45 children (median age 7.4 years),22 adults (median age 26.8 years) on nusinersen and 11 untreated (median age 32.7 years). Forty-three percent children had reduced mouth opening, 50% had prolonged total time to eat. These issues were more prominent in sitters than in walkers (p = 0.019, p = 0.014). Sixty-six percent needed increased swallows for bolus clearance. Nusinersen treated adults had median aMMO, tongue strength and total time at TOMASS values within normal range (z score: -1.40, -1.22, -1.32, respectively) whereas untreated adults had reduced aMMO (z score: -2.68) and tongue strength (z score: -2.20). Only a minority of children (2/17) and treated adults (5/21) reported burden in swallowing or mastication compared to all untreated adults (5/5). After 16 months, mastication and swallowing were stable in treated children and adults, whether sitters or walkers. The reported multimodal approach to assess oro-bulbar functions demonstrate that swallowing and mastication are impaired in SMA despite patients' perception. These results suggest a trend towards stabilization of oro-bulbar function in patients on long-term treatment with nusinersen.


Asunto(s)
Atrofias Musculares Espinales de la Infancia , Humanos , Adulto , Niño , Estudios Prospectivos , Estudios Transversales , Prevalencia , Deglución
5.
J Neurol Neurosurg Psychiatry ; 93(1): 41-47, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34353859

RESUMEN

BACKGROUND: Malnutrition and weight loss are negative prognostic factors for survival in patients with amyotrophic lateral sclerosis (ALS). However, energy expenditure at rest (REE) is still not included in clinical practice, and no data are available concerning hypometabolic state in ALS. OBJECTIVE: To evaluate in a referral cohort of patients with ALS the prevalence of hypometabolic state as compared with normometabolic and hypermetabolic states, and to correlate it with clinical phenotype, rate of progression and survival. DESIGN: We conducted a retrospective study examining REE measured by indirect calorimetry in patients with ALS referred to Milan, Limoges and Tours referral centres between January 2011 and December 2017. Hypometabolism and hypermetabolism states were defined when REE difference between measured and predictive values was ≤-10% and ≥10%, respectively. We evaluated the relationship between these metabolic alterations and measures of body composition, clinical characteristics and survival. RESULTS: Eight hundred forty-seven patients with ALS were recruited. The median age at onset was 63.79 years (IQR 55.00-71.17). The male/female ratio was 1.26 (M/F: 472/375). Ten per cent of patients with ALS were hypometabolic whereas 40% were hypermetabolic. Hypometabolism was significantly associated with later need for gastrostomy, non-invasive ventilation and tracheostomy placement. Furthermore, hypometabolic patients with ALS significantly outlived normometabolic (HR=1.901 (95% CI 1.080 to 3.345), p=0.0259) and hypermetabolic (HR=2.138 (95% CI 1.154 to 3.958), p=0.0157) patients. CONCLUSION: Hypometabolism in ALS is not uncommon and is associated with slower disease progression and better survival than normometabolic and hypermetabolic subjects. Indirect calorimetry should be performed at least at time of diagnosis because alterations in metabolism are correlated with prognosis.


Asunto(s)
Esclerosis Amiotrófica Lateral/diagnóstico , Metabolismo Energético , Adulto , Anciano , Composición Corporal , Calorimetría Indirecta , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Pérdida de Peso
6.
Muscle Nerve ; 66(1): 63-70, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35474226

RESUMEN

INTRODUCTION/AIMS: Becker muscular dystrophy (BMD) is an X-linked disease leading to muscle wasting and weakness. The decrease in lean body mass (LBM) in Duchenne muscular dystrophy, has shown correlation with loss of muscle function and bone density (BD). Myokines (including irisin) are hormones secreted by skeletal muscle that allow crosstalk between muscle and bone. The present study analyzed body composition and circulating myokine levels in a cohort of BMD patients; moreover, the association between dual energy X-ray absorptiometry (DXA) parameters, functional motor assessments, and myokine levels was investigated. METHODS: All patients underwent DXA, blood samples for myokine assays, and functional motor assessments. A group of healthy controls (HCs) was also included. RESULTS: Thirty BMD patients, median age at evaluation 36.0 y [26.0-41.0], were included. Twenty-nine patients underwent whole-body DXA. Median value of total body Z-score was -0.70. The prevalence of low skeletal muscle mass defined as appendicular skeletal muscle mass index (ASMMI) < 7.59 kg/m2 was 83%. Irisin levels were significantly lower in BMD compared to HCs (p = .03). All DXA parameters showed significant correlation with the functional motor assessments, in particular the h2 -standardized lean mass lower limb index (p = .0006); h2 -standardized total fat mass showed negative correlations with North Star Ambulatory Assessment and 6 min walk test (p = .03). DISCUSSION: DXA is a useful tool to evaluate body composition in BMD patients; the decrease in BD and LBM is associated with a reduction of motor function in BMD.


Asunto(s)
Distrofia Muscular de Duchenne , Absorciometría de Fotón , Composición Corporal/fisiología , Densidad Ósea/fisiología , Fibronectinas , Humanos , Músculo Esquelético , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/diagnóstico por imagen
7.
Artículo en Inglés | MEDLINE | ID: mdl-35789036

RESUMEN

OBJECTIVE: Since the onset of the COVID-19 pandemic, healthcare workers, especially those employed in hospital settings, have been exposed to a variety of stressors in the workplace. The aim of this study was to explore the Emotional Exhaustion (EE) of workers in geriatric facilities during the COVID-19 crisis. We accordingly sought to investigate the short-term impact of the COVID-19 pandemic in terms of the EE experienced by workers in geriatric facilities, and to examine the manner in which psychosocial conditions and fear of COVID-19 in the workplace have affected EE. METHODS: Surveys were administered in the midst of the COVID-19 crisis (October to December 2020). The study included 118 French healthcare workers with a mean age of 35.61 ± 0.73 recruited in geriatric facilities. We assessed EE, psychosocial conditions (e.g., demands at work, health and well-being, etc.) and fear of COVID-19 in the workplace. RESULTS: The analysis yielded two main outcomes. First, 34.75% workers (41) reported severe levels of EE. Second, demands at work and the fear of COVD-19 increased EE. Health and well-being were, however, demonstrated to protect against EE. DISCUSSION: Furthermore, fear of COVID-19 was shown to contribute significantly to EE healthcare workers in geriatric facilities. It is likely that Covid-19 indirectly contributes to EE by influencing demands at work.


Asunto(s)
Agotamiento Profesional , COVID-19 , Anciano , COVID-19/epidemiología , Emociones , Miedo , Humanos , Pandemias
8.
Neurol Sci ; 42(3): 1023-1029, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32710206

RESUMEN

Amyotrophic lateral sclerosis (ALS) is a multisystemic disease compromising both the neuromuscular system and the cognitive status. Non-invasive ventilation (NIV) has been shown to improve survival and quality of life in ALS patients with respiratory failure, but scanty literature investigated which are the predictors of NIV tolerance. The aim of this study was to evaluate the impact of functional, cognitive, neurobehavioral, and respiratory status on NIV compliance and tolerance in patients with ALS. We retrospectively evaluated clinical data of ALS patients who consecutively underwent a NIV trial during hospitalization. Cognitive and neurobehavioral assessments have been performed using the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), the Hospital Anxiety and Depression Scale (HADS), the Frontal Assessment Battery (FAB), the Raven's 47 Colored Progressive Matrices (PM47), and the Neurobehavioral Rating Scale Revised (NRSR). Seventy-two patients (mean age ± SD; 63.9 ± 10.6 years) were included. Patients adapted were 63/72 (87.5%). The average time of adaptation was 7.82 ± 5.27 days. The time required to reach a satisfying NIV adaptation was significantly related to the presence of sialorrhea (p = 0.02), respiratory status (Borg Dyspnoea Scale, p = 0.006, and ALS-FRS-R respiratory subscore, p = 0.03) and behavioral and cognitive impairment (NRSR-F1, p = 0.04, NRSR- F5, p = 0.04). Presence of sialorrhea and neurobehavioral impairment, and absence of respiratory symptoms are negative predictors of NIV adaptation. This study highlights the need of a multidisciplinary patient-tailored approach including cognitive-behavioral assessment and a psychological support program to optimize patient's training and compliance to NIV.


Asunto(s)
Esclerosis Amiotrófica Lateral , Ventilación no Invasiva , Insuficiencia Respiratoria , Esclerosis Amiotrófica Lateral/complicaciones , Humanos , Calidad de Vida , Estudios Retrospectivos
9.
J Pediatr ; 219: 223-228.e4, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32035635

RESUMEN

OBJECTIVE: To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy. STUDY DESIGN: Observational, longitudinal cohort study. We collected respiratory data from 118 children with type 1 spinal muscular atrophy and differing pulmonary requirements and conducted a semistructured qualitative interview among a subsample of caregivers at baseline, 6 months, and 10 months after the first nusinersen treatment. Patients were stratified according to ventilation modalities and age at study entry. RESULTS: Most patients in our cohort remained stable (84/109 = 77%). More than 80% of the children treated before age 2 years survived, in contrast to the lower survival reported in natural history studies, and did so without tracheostomy or noninvasive ventilation (NIV) ≥16 hours. In those less than 2 years old, only 3 patients shifted from NIV ≤10 hours to NIV >10 hours, and the other 3 reduced the hours of NIV required. Most of the older patients remained stable; this included not only those on tracheostomy or NIV >10 hours but also 75% of those on NIV ≤10 hours. CONCLUSIONS: Our results suggest that nusinersen may produce some improvement in the progression of respiratory impairment, both in terms of survival and need for respiratory support ≥16 hours, especially before the age of 2 years.


Asunto(s)
Ventilación no Invasiva , Oligonucleótidos/uso terapéutico , Respiración , Atrofias Musculares Espinales de la Infancia/fisiopatología , Atrofias Musculares Espinales de la Infancia/terapia , Estudios de Cohortes , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Atrofias Musculares Espinales de la Infancia/tratamiento farmacológico
10.
Expert Opin Emerg Drugs ; 25(2): 145-164, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32456491

RESUMEN

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease involving both upper and lower motor neurons and resulting in increasing disability and death 3-5 years after onset of symptoms. Over 40 large clinical trials for ALS have been negative, except for Riluzole that offers a modest survival benefit, and Edaravone that modestly reduces disease progression in patients with specific characteristics. Thus, the discovery of efficient disease modifying therapy is an urgent need. AREAS COVERED: Although the cause of ALS remains unclear, many studies have demonstrated that neuroinflammation, proteinopathies, glutamate-induced excitotoxicity, microglial activation, oxidative stress, and mitochondrial dysfunction may play a key role in the pathogenesis. This review highlights recent discoveries relating to these diverse mechanisms and their implications for the development of therapy. Ongoing phase 2 clinical trials aimed to interfere with these pathophysiological mechanisms are discussed. EXPERT OPINION: This review describes the challenges that the discovery of an efficient drug therapy faces and how these issues may be addressed. With the continuous advances coming from basic research, we provided possible suggestions that may be considered to improve performance of clinical trials and turn ALS research into a 'fertile ground' for drug development for this devastating disease.


Asunto(s)
Esclerosis Amiotrófica Lateral/tratamiento farmacológico , Desarrollo de Medicamentos , Fármacos Neuroprotectores/administración & dosificación , Esclerosis Amiotrófica Lateral/fisiopatología , Animales , Progresión de la Enfermedad , Descubrimiento de Drogas , Edaravona/administración & dosificación , Edaravona/farmacología , Humanos , Fármacos Neuroprotectores/farmacología , Estrés Oxidativo/efectos de los fármacos , Riluzol/administración & dosificación , Riluzol/farmacología
11.
Neurol Sci ; 41(4): 835-841, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31807998

RESUMEN

Amyotrophic lateral sclerosis (ALS) patients often express cognitive and behavioral dysfunctions within the so-called "frontotemporal spectrum disorders." Guidelines recommend screening of such dysfunctions, albeit only ALS dedicated tools are eventually suitable, due to the profound motor limitations induced by the disease. ALS Cognitive Behavioral Screen (ALS-CBS) is such a screening tool but normative data are not available, limiting its widespread implementation. Our aim consisted in producing normative data for the Italian version of the ALS-CBS. The scale was administered to n = 458 healthy controls with different age and education. Following translation and back translation of the original version of the test, normative data and correction scores for the ALS-CBS cognitive subtest (ALS-CBSci) were generated. Furthermore, n = 100 ALS consecutive outpatients with a wide range of cognitive and motor severity underwent to the ALS-CBS, besides FAB and Weigl sorting test (WST), in order to check its usability. Completion rate was 100% for ALS-CBS and WST, and 68% for the FAB. Corrected ALS-CBS scores showed 12% detection rate of significant cognitive dysfunction with a moderate kappa with FAB and WST. For the ALS-CBS behavioral subtest (ALS-CBSbi), a caregiver was available for n = 81 ALS patients and asked to complete the subset. The detection rate for behavioral dysfunction was 55.5%, and a mild correlation between with the Caregiver Burden Inventory was present (r = - 0.26, p = 0.04). In conclusion, we offer here normative data for the ALS-CBS, a handy tool for screening frontotemporal spectrum dysfunctions in ALS patients, and confirm its usability and validity in an outpatient setting.


Asunto(s)
Esclerosis Amiotrófica Lateral/complicaciones , Síntomas Conductuales/diagnóstico , Disfunción Cognitiva/diagnóstico , Pruebas Neuropsicológicas/normas , Adulto , Anciano , Anciano de 80 o más Años , Síntomas Conductuales/etiología , Disfunción Cognitiva/etiología , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Valores de Referencia , Adulto Joven
12.
Neurol Sci ; 40(2): 399-404, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30515604

RESUMEN

The primary aim of the study is to evaluate possible taste changes in a cohort of amyotrophic lateral sclerosis patients (pALS) with dysphagia, focusing on eventual psychological and quality of life (QoL) implications. The second aim is to evaluate the changes of QoL following the use of a specific device that provides food flavour. Thirty-two ALS patients were recruited and divided into two groups: subjects feeding only through enteral tube (ET) and subjects still eating by oral way (OW). A specific set of questionnaires was selected and adapted to investigate possible changes of taste and the impact on psychological status and QoL. Moreover, a specific device that provides food flavours in a safety manner was applied to all patients. We found a perceived reduction of taste in ALS patients, in particular in the ET group. All patients showed a strong interest in the preservation of taste, and its loss negatively related to their QoL. The use of the flavour device improved the perceived QoL showing no side effects, even in the ET group. For the first time, our study revealed changes in taste perception in a cohort of ALS patients and the negative consequences that these changes have on psychological status and QoL. Furthermore, the positive effects of the device used to provide flavours suggest a possible rehabilitative effect, which should be better evaluated and confirmed in further studies.


Asunto(s)
Esclerosis Amiotrófica Lateral/complicaciones , Trastornos de Deglución/complicaciones , Calidad de Vida , Trastornos del Gusto/complicaciones , Esclerosis Amiotrófica Lateral/fisiopatología , Esclerosis Amiotrófica Lateral/psicología , Esclerosis Amiotrófica Lateral/rehabilitación , Estudios de Cohortes , Trastornos de Deglución/fisiopatología , Trastornos de Deglución/psicología , Trastornos de Deglución/rehabilitación , Nutrición Enteral , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Gusto/fisiopatología , Trastornos del Gusto/psicología
13.
Eur J Phys Rehabil Med ; 60(3): 470-476, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38743390

RESUMEN

BACKGROUND: Animal-assisted therapy (AAT) is an intervention in which the animal acts as a co-therapist. It has been mainly used in the context of patients with dementia, showing positive effects on psychological symptoms, but its potential as a physiotherapy treatment for patients with neuromuscular disorders, amyotrophic lateral sclerosis (ALS) in particular, has not yet been investigated. AIM: The aim of the study was to evaluate the impact of AAT, specifically of dog-assisted therapy, on motor functions and psychological status in patients with ALS. DESIGN: This study was a randomized controlled pilot study. SETTING: The study was carried out at the Rehabilitation Unit NEuroMuscular Omnicenter (NEMO) of Arenzano, Genoa. POPULATION: Sixty hospitalized ALS patients were enrolled. METHODS: All patients ran a regular two-weeks neurorehabilitation program twice a day. For three days a week, in place of the morning traditional treatment, the AAT group performed a rehabilitation session with a simultaneous interaction with the therapy-dog, while the control group performed a traditional rehabilitation session. The outcome measures were the Timed Up and Go Test, the Short Physical Performance Battery (SPPB), the Six Minutes Walk Test, the Ten Meters walking Test and the Hospital Anxiety and Depression Scale. RESULTS: Both groups showed an amelioration in motor scales. However, SPPB subscales as well as HADS scores showed a statistically significant improvement only in the AAT group (P values from <0.0001 to 0.0004). Additionally, across almost all motor and psychological measures, post-treatments values were significantly better for the AAT group (P values from <0.0001 to 0.01). CONCLUSIONS: The obtained results not only suggest that AAT is comparable to traditional physiotherapy treatments, but also evidence that this type of treatment has greater beneficial effects on motor and psychological symptoms in patients with ALS. CLINICAL REHABILITATION IMPACT: This study provides first evidence that AAT is a powerful rehabilitation strategy in patients with ALS, improving both motor and psychological symptoms, and therefore possibly ameliorating quality of life.


Asunto(s)
Esclerosis Amiotrófica Lateral , Terapia Asistida por Animales , Modalidades de Fisioterapia , Humanos , Proyectos Piloto , Esclerosis Amiotrófica Lateral/rehabilitación , Masculino , Femenino , Persona de Mediana Edad , Terapia Asistida por Animales/métodos , Anciano , Animales , Perros , Resultado del Tratamiento
14.
J Neurol ; 271(8): 5177-5186, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38829431

RESUMEN

BACKGROUND: In Amyotrophic Lateral Sclerosis (ALS) patients with SOD1 mutation the intrathecal administration of tofersen slowed down the progression of disease in a controlled clinical study, but results were not statistically significant. METHODS: In this multicentre, observational study, we evaluated a cohort of 27 ALS-SOD1 patients who were treated with tofersen, focussing on 17 patients who were followed for at least 48 weeks (median period of 84 weeks, range 48-108). We compared the clinical slopes, as measured by ALSFRS-R, MRC scale and Forced Vital Capacity, during tofersen treatment with retrospective data at 1 year prior to therapy. Cerebrospinal fluid (CSF) and serum neurofilament light chains (NFL) were measured in all patients. RESULTS: Cumulative evaluation of the ALSFRS-R and MRC progression rates showed a statistically significant change during treatment with respect to the period prior to therapy (p = 0.023 and p = 0.007, respectively). The analysis of individual patients showed that nine of the seventeen patients substantially stabilized or slightly improved. Four patients deteriorated during treatment, while in the remaining patients the very slow course did not allow to identify significant changes. CSF and serum NFL concentration markedly decreased in the near totality of patients. Increased levels of white blood cells and proteins in the CSF were found in 60% of patients. Such alterations were clinically asymptomatic in all but two patients who showed an acute pure motor radiculitis, which responded to steroid therapy. CONCLUSIONS: Clinical findings and NFL analysis strongly suggest that tofersen may have a disease-modifying effect in a subset of SOD1-ALS patients.


Asunto(s)
Esclerosis Amiotrófica Lateral , Superóxido Dismutasa-1 , Humanos , Esclerosis Amiotrófica Lateral/tratamiento farmacológico , Esclerosis Amiotrófica Lateral/sangre , Masculino , Femenino , Persona de Mediana Edad , Anciano , Superóxido Dismutasa-1/genética , Proteínas de Neurofilamentos/sangre , Proteínas de Neurofilamentos/líquido cefalorraquídeo , Progresión de la Enfermedad , Adulto , Estudios Retrospectivos , Resultado del Tratamiento , Estudios de Cohortes
15.
J Clin Med ; 13(18)2024 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-39336946

RESUMEN

Background: Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. Methods: This was an observational multicenter study. Reported sleep quality was assessed using the Pediatric Daytime Sleepiness Scale (PDSS) and Pediatric Sleep Questionnaire (PSQ). Sleep quality was correlated to motor function (6 min walk test, 6MWT and grip strength; pulmonary function (predicted Forced Vital Capacity%, FVC% pred.); executive function assessed by BRIEF-2; autism traits assessed by Autism Spectrum Screening Questionnaire (ASSQ) and Repetitive Behavior Scale-revised (RBS-R); Quality of life (PedsQL) and disease burden (Congenital Childhood Myotonic Dystrophy Health Index, CCMDHI). Results: Forty-six patients were included, 33 CDM and 13 ChDM, at a median age of 10.4 and 15.1 years. Daytime sleepiness and disrupted sleep were reported by 30% children, in both subgroups of CDM and ChDM. Daytime sleepiness correlated with autism traits in CDM (p < 0.05). Disrupted sleep correlated with poorer executive function (p = 0.04) and higher disease burden (p = 0.03). Conclusions: Sleep issues are a feature of both CDM and ChDM. They correlate with behavioral issues and impact on disease burden.

16.
Ann Noninvasive Electrocardiol ; 18(2): 130-9, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23530483

RESUMEN

BACKGROUND: The QT variability index, calculated between Q- and the T-wave end (QTend VI), is an index of temporal myocardial repolarization lability associated with sudden cardiac death (SCD) in chronic heart failure (CHF). Little is known about temporal variability in the other two temporal myocardial repolarization descriptors obtained from Q-Tpeak and Tpeak -Tend intervals. We therefore investigated differences between these indexes in patients with CHF who died suddenly and in those who survived with a left ventricular ejection fraction (LVEF) ≤35% or >35%. METHODS AND RESULTS: We selected 127 ECG and systolic blood pressure (SPB) recordings from outpatients with CHF all of whom had been followed up for 30 months. We calculated RR and SPB variability by power spectral analysis and QTend VI, QTpeak VI, Tpeak Tend VI. We then subdivided data patients into three groups SCD, LVEF ≤ 35%, and LVEF > 35%. The LVEF was higher in the SCD than in the LVEF ≤ 35% group, whereas no difference was found between the SCD and LVEF > 35% groups. QTend VI, QTpeak VI, and Tpeak Tend VI were higher in the SCD and LVEF ≤ 35% groups than in the LVEF > 35% group. Multivariate analysis detected a negative relationship between all repolarization variability indexes, low frequency obtained from RR intervals and LVEF. CONCLUSIONS: Our data show that variability in the first (QTpeak VI) and second halves of the QT interval (Tpeak -Tend VI) significantly contributes to the QTend VI in patients with CHF. Further studies should investigate whether these indexes might help stratify the risk of SCD in patients with a moderately depressed LVEF.


Asunto(s)
Muerte Súbita Cardíaca/etiología , Electrocardiografía/métodos , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/fisiopatología , Corazón/fisiopatología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
17.
Disabil Rehabil ; : 1-7, 2023 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-37578105

RESUMEN

PURPOSE: The aim of this study was to adapt the Upper Extremity Functional Index (UEFI) to an Italian population affected by Facioscapulohumeral muscular dystrophy (FSHD) by translating and validating this instrument in an Italian cohort. MATERIALS AND METHODS: Five Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, fifty-two patients were recruited for the validation purpose by serially completing the UEFI-IT and a battery of clinical assessments and questionnaires. Finally, a subset of thirty-nine patients underwent test-retest reliability. RESULTS: The Italian translation of the UEFI was highly relevant to patients, had a level of test-retest reliability from "good" to "excellent" (ICC = 0.90 with 95% confidence interval between 0.82 and 0.95), and a satisfactory internal consistency (Cronbach's alpha = 0.96). Participants confirmed the usefulness and clearness of the tool in cultural validity. In known group validity, the UEFI-IT was significantly lower in patients unable to walk (24.10 ± 11.33 vs 55.71 ± 13.98, p < .0001; AUC = 0.9631) and in patients with longer disease duration (43.43 ± 17.16 vs 58.14 ± 13.71, p = 0.0034; AUC = 0.7359). Finally, the concurrent validity showed strong associations between the UEFI-IT and motor assessments, pain perception, and quality-of-life evaluations. CONCLUSIONS: Overall, the UEFI-IT is an appropriate, valid, and reliable outcome measure for Italian-speaking FSHD patients.


It is important for the clinical community to have a valid instrument that can serially offer an accurate assessment of disability that involves questionnaires of the upper extremity functions.The Upper Extremity Functional Index (UEFI) is a deeply used region-specific patient-reported outcome measure (PROM) that investigates the patients' current upper extremity functional status.The Italian validation of UEFI (UEFI-IT) is a valid instrument that allows patients to report on the functional status of their upper limbs.The UEFI-IT provides clinicians with a valid and reliable outcome measure that is easy to use and applicable to a large number of clinical presentations and for both clinical practice and research.

18.
Disabil Rehabil ; : 1-8, 2023 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-37194629

RESUMEN

PURPOSE: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort. MATERIALS AND METHODS: Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach's Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson's and Spearman's Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects. RESULTS: The Italian translation of the FSHD-HI and its subscales were highly relevant to patients, had a high internal consistency (Cronbach's Alpha = 0.90), optimal test-retest reliability (ICC= 0.95), and was significantly associated with motor function, respiratory function, and QoL assessments. CONCLUSIONS: Overall, the Italian FSHD-HI is a valid and well-suited measurement of the multi-dimensional aspects of disease burden in FSHD patients.


Facioscapulohumeral muscular dystrophy (FSHD) negatively impacts the quality of life and increases the disease burden.It is important for the clinical community to have a valid instrument that can serially measure a patient's perception of their multifactorial disease burden in FSHD.The Facioscapulohumeral Muscular Dystrophy ­ Health Index (FSHD-HI) is a valid instrument that allows patients to provide their perspective regarding their current health state.FSHD-HI-IT provides a valid option for measuring multifactorial disease burden in Italian patients with FSHD during clinical trials.

19.
J Neurol ; 270(8): 4090-4095, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37147520

RESUMEN

BACKGROUND: The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on the ALS Cognitive Behavioral Screen (ALS-CBS™) in an Italian cohort of non-demented ALS patients. METHODS: ALS-CBS™ and ECAS scores of 293 ALS patients without frontotemporal dementia were retrospectively retrieved. Concurrent validity of the ALS-CBS™ towards the ECAS was tested by covarying for demographics, disease duration and severity, presence of C9orf72 hexanucleotide repeat expansion and behavioural features. A linear-smoothing equipercentile equating (LSEE) model was employed to derive ALS-CBS™-to-ECAS cross-walks. Gaps in LSEE-based estimation were managed via a linear regression-based equating approach. Equivalence between empirical and derived ECAS scores was tested via a two-one-sided test (TOST) procedure for the dependent sample. RESULTS: The ALS-CBS™ predicted the ECAS (ß = 0.75), accounting for the vast majority of its variance (60% out of an R2 = 0.71). Consistently, a strong, one-to-one linear association between ALS-CBS™ and ECAS scores was detected (r = 0.84; R2 = 0.73). The LSEE was able to estimate conversions for the full range of the ALS-CBS™, except for raw scores equal to 1 and 6 - for whom a linear equating-based equation was derived. Empirical ECAS scores were equivalent to those derived with both methods. DISCUSSION: Italian practitioners and researchers have been herewith provided with valid, straightforward cross-walks to estimate the ECAS based on ALS-CBS™ scores in non-demented ALS patients. Conversions herewith provided will help avoid cross-sectional/longitudinal inconsistencies in test adoption within research, and possibly clinical, settings.


Asunto(s)
Esclerosis Amiotrófica Lateral , Trastornos del Conocimiento , Humanos , Trastornos del Conocimiento/psicología , Estudios Retrospectivos , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/genética , Estudios Transversales , Pruebas Neuropsicológicas , Cognición
20.
Arch Gerontol Geriatr ; 102: 104745, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35714475

RESUMEN

BACKGROUND: Nursing home staff have been adversely impacted throughout the COVID-19 pandemic, facing difficulties in providing patient care. The aim of this study was to explore health workers' perception regarding their own care quality experience in nursing homes during the COVID-19 pandemic. Amidst the second wave of the pandemic, we investigated the relationships between fear of COVID-19 and care quality experiences in nursing homes with emotional exhaustion (EE) as a mediating role. We hypothesized that EE is associated with fear of COVID-19 and care quality experience among nursing home staff. Furthermore, we predicted that EE would mediate the relationships between fear of COVID-19 and care quality experience. METHODS: During the second wave of COVID-19 (October to December 2020), we administered surveys to a large sample of 129 French nursing home staff with a mean age of 38.47 ± 10.31 who were directly and repeatedly exposed to COVID-19. We assessed their emotional exhaustion (EE) and care quality experience in the workplace via subjective indicators using self-reported scales. RESULTS: In the context of COVID-19, low to severe emotional exhaustion levels were found among nursing home staff, and these levels were associated with care quality experience as well as fear of COVID-19. The groups with low and severe levels of EE reported the highest levels of fear of COVID-19. The groups with moderate and severe levels of EE reported the lowest levels of care quality experience. Lastly, the relationships between fear of COVID-19 and care quality experience were mediated by EE. CONCLUSIONS: The findings made by the present study focused on the role of emotional coping responses to COVID-19. EE was associated positively with fear of COVID-19 and negatively with care quality experience. Furthermore, EE was found to mediate the relationship between fear of COVID-19 and care quality experience. We discuss these findings as they relate to palliative care issues in nursing homes and the manner in which emotional exhaustion ought to be addressed among nursing home staff.


Asunto(s)
COVID-19 , Miedo , Humanos , Casas de Salud , Pandemias , Calidad de la Atención de Salud
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