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1.
Neurol Sci ; 44(5): 1481-1489, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36757605

RESUMEN

BACKGROUND: The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) represents the most recent severe pandemic resulting in coronavirus disease 2019 (COVID-19). COVID-19 can damage the central nervous system, requiring admission to intensive care units (ICU) and aggressive treatments (long-term ventilatory assistance and sedation) to stabilize vitals. Most post-COVID-19 patients experience cognitive impairments and mood or stress disorders. We aimed to study the frequency of cognitive deficits in COVID-19 survivors, the relationship between clinical factors in the acute phase and cognitive outcomes, affective states, and quality of life. We explored cognitive reserve (CR) role, as a post-COVID-19 resilience factor. METHODS: Twenty-nine COVID-19 inpatients were assessed using a neuropsychological battery, mood scales, quality of life, and social integration questionnaires. Twenty-five were retained through telephone follow-up to monitor cognitive sequelae, affective states, and reintegration levels roughly 8 months after hospital discharge. We administered the Cognitive Reserve Index questionnaire. RESULTS: We found most patients display no cognitive deficits. When they did, multi-domain impairment occurred most frequently, especially involving executive functions. Results revealed a significant correlation between depression levels and the interval between ICU admission and tracheal tube removal. We found increased levels of depression and anxiety at follow-up, a significant relationship between resuming daily life activities, high CR, and executive functions. CONCLUSIONS: These findings suggest the importance of psychological support in the long term and the modulating role of cognitive reserve in quality of life after infection.


Asunto(s)
COVID-19 , Humanos , SARS-CoV-2 , Calidad de Vida , Estudios de Seguimiento , Unidades de Cuidados Intensivos , Sobrevivientes/psicología , Hospitales
2.
BMC Neurol ; 22(1): 109, 2022 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-35317736

RESUMEN

BACKGROUND: The rehabilitation of paretic stroke patients uses a wide range of intervention programs to improve the function of impaired upper limb. A new rehabilitative approach, called action observation therapy (AOT) is based on the discovery of mirror neurons and has been used to improve the motor functions of adult stroke patients and children with cerebral palsy. Recently, virtual reality (VR) has provided the potential to increase the frequency and effectiveness of rehabilitation treatment by offering challenging and motivating tasks.  METHODS: The purpose of the present project is to design a randomized controlled six-month follow-up trial (RCT) to evaluate whether action observation (AO) added to standard VR (AO + VR) is effective in improving upper limb function in patients with stroke, compared with a control treatment consisting of observation of naturalistic scenes (CO) without any action content, followed by VR training (CO + VR). DISCUSSION: AO + VR treatment may provide an addition to the rehabilitative interventions currently available for recovery after stroke and could be utilized within standard sensorimotor training or in individualized tele-rehabilitation. TRIAL REGISTRATION: The trial has been prospectively registered on ClinicalTrials.gov. NCT05163210 . 17 December 2021.


Asunto(s)
Neuronas Espejo , Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Realidad Virtual , Adulto , Niño , Humanos , Accidente Cerebrovascular/terapia , Tecnología
3.
Neurol Sci ; 40(10): 2073-2080, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31129775

RESUMEN

The recovery of the orthostatism after a severe acquired brain injury (sABI) is an essential objective to pursue in order to avoid the occurrence of secondary complications resulting from prolonged immobilization to which the patient is subjected during the acute phase. This randomized controlled trial aims to evaluate the effect of verticalization with the lower limb robot-assisted training system Erigo® versus conventional neurorehabilitation in 44 adult subjects affected by sequelae of sABI in the acute rehabilitation phase, related to cardiorespiratory signs and measures of impairment and activity. At the end of the study (20 treatment sessions, 5 sessions per week), in both groups of patients, there were no dropouts nor adverse events. In subject verticalized with Erigo®, there were no episodes of (pre)syncope from orthostatic hypotension nor postural orthostatic tachycardia and cardiorespiratory signs remained stable; moreover, there were no increase in muscle tone nor reduction in range of motion at lower limbs. Results obtained show improved outcomes on the whole and in a similar way in both groups; however, the improvement in scores of the National Institutes of Health Stroke Scale, the Tinetti scale, and the Functional Independence Measure from the enrollment to the end of the treatment cycle being equal, the evaluation performed at the 10th session allows to establish that the improvement appears earlier in the intervention group and later in the control group. The more rapid recovery of impairments and some activities in subjects treated with Erigo® could allow a "time-saver" to devote to the rehabilitation of sensory-motor functions which are more complex and subordinated to the preliminary reacquisition of elementary postures and motor strategies.


Asunto(s)
Lesiones Encefálicas/rehabilitación , Rehabilitación Neurológica/instrumentación , Posicionamiento del Paciente/instrumentación , Robótica/instrumentación , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Intolerancia Ortostática/epidemiología , Intolerancia Ortostática/etiología , Posicionamiento del Paciente/efectos adversos , Adulto Joven
5.
Brain Inj ; 30(8): 1029-34, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27119381

RESUMEN

PRIMARY OBJECTIVE: To report consistent recovery of consciousness to a state of severe disability in a young patient after 7 years in vegetative state due to severe acquired brain injury, with reflections on protraction of intensive care and expert follow-up for the purpose of intercepting possible, albeit infrequent, cases of late recovery of consciousness. RESEARCH DESIGN: Single case study Methods: This study describes the 9-year history of a healthy 15-year-old who suffered cerebellar haemorrhage due to rupture of an arteriovenous malformation, followed by a brief period of coma then protracted vegetative state; late stabilization of general condition with resolution of neurosurgical complications. Clinical monitoring employed scales for structured assessment of severe disability and disorders of consciousness. RESULTS: The transition from vegetative state to full consciousness occurred over a period of ~ 3 months, 7 years after onset. In the subsequent 2 years the patient has shown slow but progressive overall improvement in a framework of severe residual motor and cognitive disability. CONCLUSIONS: Cases of recovery of consciousness after periods of vegetative state exceeding 1 year are rare, but remind one that a negative prognosis decided too early may be a self-fulfilling forecast.


Asunto(s)
Malformaciones Arteriovenosas Intracraneales/complicaciones , Estado Vegetativo Persistente/etiología , Recuperación de la Función , Adolescente , Evaluación de la Discapacidad , Femenino , Humanos , Pronóstico , Adulto Joven
6.
Artículo en Inglés | MEDLINE | ID: mdl-38842067

RESUMEN

INTRODUCTION: Spinal cord injuries have a considerable impact on healthcare in terms of mortality and morbidity. To address the difficulties faced by people affected by this condition and to raise awareness among stakeholders and policymakers, it is crucial to understand factors impacting survival. The purpose of this study is to systematically review the literature on life expectancy in people with traumatic spinal cord injury (tSCI), identifying key factors influencing mortality and survival. EVIDENCE ACQUISITION: We conducted a systematic review, searching the literature for articles published up to July 2023 in PubMed, Web of Science, Cochrane Library, Google Scholar, and PEDro. Study outcomes had to be one of survival rate, life expectancy, standardized mortality ratio, or mortality rate. Only original research articles published in English were included. The quality of evidence was evaluated with the MINORS scale. The level of evidence was categorized according to the OCEBM model. EVIDENCE SYNTHESIS: A comprehensive literature search yielded 102 articles, after the selection process 20 studies were included in our review. The main factors negatively influencing survival and life expectancy included higher neurological level of injury (NLI), completeness of the lesion, need for mechanical ventilation, increasing age, and male gender. The development of SCI-related comorbidities also negatively impacted survival as well as the lack of specialized care, especially in low-income countries. Additionally, pre-injury health status and personal income may affect survival. CONCLUSIONS: Current literature shows that people affected by tSCI have a shorter life expectancy compared to the general population, highlighting some factors as possible predictors. It is difficult to compare available evidence due to the methodological heterogeneity across studies, which makes it challenging to draw generalizable conclusions on life expectancy in people with tSCI. Further studies are required to address these issues and accurately estimate life expectancy accounting for gaps in the management of people affected by tSCI to improve their care.

7.
Artículo en Inglés | MEDLINE | ID: mdl-38905063

RESUMEN

PURPOSE: A case report of a six-year and five-month-old female admitted with typical symptoms of Rubinstein-Taybi syndrome is presented. Clinical and rehabilitation settings where she acquired her reading, writing, and communication skills are described. METHODS: Because of her cognitive disabilities, a multidisciplinary and long-term intervention (2014-2020) was necessary. Treatment included orthoptic, psychomotor, logopedic, occupational, and neuropsychological care. Her family and school were involved. RESULTS: Increased attention led to decreased dysfunctional behaviors. Test results are still below average, but there has been significant improvement. Better communication skills resulted from increased phonetic range, improved articulation, lexical-semantic structure, comprehension, and production of sentences. Digital technologies played a significant role in enhancing her communication skills, not just in social interactions but also in school activities. The patient is oriented in time and space with the help of agendas and calendars. She can express her needs and compose concise narratives. As a result of acquiring functional skills, she is better equipped to handle real-life situations, which has led to increased social and family activities. CONCLUSION: This case report highlights the importance of personalized rehabilitation programs. Obtaining an early genetic diagnosis is crucial for timely tailored rehabilitation, and any delays in this process can hinder progress.

8.
Eur J Phys Rehabil Med ; 59(4): 458-473, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37534887

RESUMEN

BACKGROUND: The Early Rehabilitation Barthel Index (ERBI) comprises seven items of the Early Rehabilitation Index and ten items of the Barthel Index. The ERBI is usually used to measure functional changes in patients with severe acquired brain injury (sABI), but its measurement properties have yet to be extensively assessed. AIM: To study the unidimensionality and internal construct validity (ICV) of the ERBI through Confirmatory Factor Analysis (CFA), Mokken Analysis (MA), and Rasch Analysis (RA). DESIGN: Multicenter prospective study. SETTING: Inpatients from five intensive rehabilitation centers. POPULATION: Two hundred and forty-seven subjects with sABI. METHODS: ERBI was administered on admission and discharge to study its unidimensionality through CFA and MA and its ICV, reliability, and targeting through RA. RESULTS: The preliminary analyses showed a lack of unidimensionality (RMSEA=0.460 >0.06; SRMR=0.176 >0.06; CFI=1.000 >0.950; TLI=1.000 >0.950). According to CFA, "Confusional state" and "Behavioral disturbance" items showed low factor loadings (<0.40), whereas these two items composed a separate scale within the MA. Furthermore, the baseline RA showed that three items misfitted ("Mechanical ventilation," "Confusional state," "Behavioral disturbances") and a lack of conformity of several ICV requirements. After deletion of three misfitting items and further non-structural modifications (i.e., testlets creation to absorb local dependence between items and item misfit), the solution obtained showed adequate ICV, adequate reliability for measurements at the individual level (PSI>0.85), although with a frank floor effect. This final solution was successfully replicated in a total sample of the subjects. After post-hoc modifications of the score structure of two out of three misfitting items, the subsequent CFA (RMSEA=0.044 <0.06; SRMR=0.056 <0.06; CFI=1.000 >0.950 TLI=1.000 >0.950) and MA showed the resolution of the unidimensional issues. CONCLUSIONS: Although the ERBI is a potentially valuable tool for measuring functioning in the coma-to-community continuum, our analyses suggested its lack of ICV, partly due to an incorrect scoring design of some items. A new perspective multicenter study is proposed to validate a modified version of the ERBI that overcomes the problems highlighted in this analysis. CLINICAL REHABILITATION IMPACT: Our results do not support the use of the original structure of the ERBI in clinical practice and research, as a lack of ICV was highlighted.


Asunto(s)
Pacientes Internos , Centros de Rehabilitación , Humanos , Estudios Prospectivos , Reproducibilidad de los Resultados , Alta del Paciente , Psicometría , Encuestas y Cuestionarios
9.
J Clin Med ; 12(23)2023 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-38068485

RESUMEN

The potential involvement of thyroid hormones (THs) in the neurological and functional recovery of patients with brain damage has been hypothesized. We aimed at investigating the role of THs and their variations during the rehabilitation process as predictive biomarkers of neurological and functional outcome in patients with acquired brain injury (ABI). This prospective, multicenter cohort study included 220 patients with ABI consecutively admitted for a 6-month neurorehabilitation program. Data on the etiology of the brain injury, occurrence of seizures, neurosurgical procedures, and death during hospitalization were collected. Both at the baseline (T0) and at the end of the rehabilitation process (T1), the following variables were evaluated: thyroid function (TSH, fT4, and fT3) and outcome measure including the Glasgow Coma Scale (GCS), Glasgow Outcome Scale-Extended (GOS-E), and Functional Independence Measure (FIM) scale. During neurorehabilitation, a significant decrease in fT4 levels was documented in the population as a whole and in patients with severe ABI (p < 0.0001), whereas no significant variations were found in TSH and fT3 levels. No significant associations were found between THs and seizure occurrence, while the neurological and functional outcomes were associated with the variation in fT4 levels during rehabilitation. In particular, a higher magnitude of decrease in fT4 levels emerged as an independent predictor of more severe neurological damage (OR = 3.48, CI 95% 1.04-11.69, p = 0.04) and a lower functional recovery (ß = -0.22, p = 0.01). In conclusion, serum fT4 variation during neurorehabilitation could represent a potential biomarker of neurological and functional outcome in patients with ABI. Further studies are needed to investigate the mechanisms underlying this association.

10.
Appl Neuropsychol Adult ; : 1-10, 2023 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-36827188

RESUMEN

A growing number of scientific contributions suggest that COVID-19 infection can lead to impairment of cognition, mainly in executive functions and memory domains, even in the absence of frank neurological pathologies.The primary objective of this retrospective study is to evaluate the frequency and type of inefficiencies in a selection of cognitive tests administered to a sample of subjects who, following infection, required invasive assisted ventilation and were admitted to rehabilitation wards for the treatment of functional impairment.Fifty-seven subjects were enrolled. The recruited patients undergone an assessment of verbal and visuospatial memory and executive functions, upon entry into the rehabilitation department, after discharge from intensive care. The following tests were administered: Rey Auditory Verbal Learning Test (AVLT) (immediate and delayed recall), Rey-Osterrieth Complex Figure Test (ROCFT) (copy and delayed recall), Stroop Color-Word Test, and Trail Making Test (TMT, A and B).Deficient scores, in beyond 25% of subjects, were found in the copy of the ROCFT (32.1% of subjects), and in the delayed recall of ROCFT (27.2%). Between 10 and 20% of patients presented an abnormal result in delayed recall of AVLT (16.07%), and Stroop Test (time, 15.6%, error, 11.5%). Less than 10% of the sample had abnormal performances on TMT (A, 3.5%, and B, 9.4%), and in AVLT immediate recall (8.9%). Correlations of the performances with age, sex, and education were also found.This paper highlights the high incidence of abnormal cognitive performances in this specific subpopulation of patients with COVID-19 infection.

11.
Eur J Phys Rehabil Med ; 59(6): 714-723, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37796120

RESUMEN

BACKGROUND: Hip displacement (HD) and dislocation in severe Cerebral Palsy (CP) (GMFCS III, IV, V) are important causes of worsening disability and quality of life. Prevention must be started from the first months of life through screening programs and early treatments, both conservative and surgical. Evidence from Clinical Practice Guidelines also suggests the development of Care Pathways for good clinical practice. At the beginning of 2020 an interdisciplinary, multi-professional working group, composed of 26 members (including Physiatrists, Physiotherapist, Neuro-psychomotor Therapists and Orthopedists representing the respective Italian Scientific Societies) with the involvement of the FightTheStroke Foundation families' association, was set up. AIM: The aim of the multi-professional panel was the production of evidence-based recommendations for the Care Pathway "Prevention of Hip Displacement in children and adolescents with severe CP" for best clinical practice implementation in our national context. DESIGN: Clinical Care Pathway (Clinical Practice Guideline). SETTING: Inpatient and outpatient. POPULATION: Children with severe CP (GMFCS III-IV-V). METHODS: The recommendations of this Care Pathway were developed using the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) guidelines for Care Pathways development and the Grading of Recommendations Assessment Development and Evaluation (GRADE ADOLOPMENT) working group for adoption or adaption or de novo development of recommendations from high-quality guidelines. In 2020 a multidisciplinary working group (WG) developed four research questions on the prevention of HD on the following topics: screening, botulinum toxin treatment, postural management and preventive soft tissue surgery. A comprehensive review of the biomedical literature was performed on each question. Guidelines, Systematic Reviews and Primary studies were retrieved through a top-down approach. References were screened according to inclusion criteria and quality was assessed by means of specific tools. A list of recommendations was then produced divided by intervention (screening programs, postural management, botulinum toxin, preventive surgery). In a series of meetings, the panel graduated recommendations using the GRADE evidence to decision frameworks. RESULTS: Fifteen recommendations were developed: seven on screening programs, four on postural management strategies, one on botulinum toxin, and three on preventive surgery. Evidence quality was variable (from very low to moderate) and only a few strong recommendations were made. CONCLUSIONS: In severe CP at high risk of hip dislocation, it is strongly recommended to start early hip surveillance programs. In our national context, there is a need to implement Screening programs and dedicated Network teams. We also strongly recommend a comprehensive approach shared with the families and goal-oriented by integrating the different therapeutic interventions, both conservative and not, within Screening programs. CLINICAL REHABILITATION IMPACT: Implementing a comprehensive multi-professional approach for the prevention of hip dislocation in severe CP.


Asunto(s)
Toxinas Botulínicas , Parálisis Cerebral , Luxación de la Cadera , Niño , Adolescente , Humanos , Luxación de la Cadera/etiología , Luxación de la Cadera/prevención & control , Vías Clínicas , Parálisis Cerebral/complicaciones , Calidad de Vida
12.
Appl Neuropsychol Child ; 11(4): 804-810, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34491869

RESUMEN

Parent-related stress represents the level of dysfunction in the parent-child system related to the parents' functioning. The aim of this retrospective pilot study was to assess the degree of stress perceived by mothers and fathers, in the framework of a family-centred approach to rehabilitation.We considered 43 parents of 29 children with cerebral palsy, genetic disorders or brain injury admitted to a neurological rehabilitation center. Parenting stress was assessed with the Parenting Stress Index - Short Form (PSI-SF) self-report questionnaire and a semi-structured investigation of situational stress factors of the family. The cognitive and motor disability of the children were assessed with the Diagnostic and Statistical Manual of Mental Disorders 5(DSM-5) and the Gross Motor Function Classification System-(GMFCS), respectively.The results showed that parental stress is directly correlated with the level of cognitive and behavioral disability and not with motor disability. No significant difference was found in the level of stress perceived by mothers and fathers. The effect of a worsening occupational situation seemed to influence the perception of stress more than a change in the formal relationship of the couple, but neither was statistically significant.


Asunto(s)
Personas con Discapacidad , Discapacidad Intelectual , Trastornos Motores , Femenino , Humanos , Discapacidad Intelectual/psicología , Responsabilidad Parental/psicología , Padres/psicología , Proyectos Piloto , Estudios Retrospectivos
13.
Front Endocrinol (Lausanne) ; 13: 887701, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35872992

RESUMEN

Purpose: A potential involvement of thyrotropic axis in influencing the state of consciousness could be hypothesized. We aimed at investigating thyroid function tests as predictors of disorders of consciousness (DoC) and relating recovery in a large cohort of patients with DoC secondary to acquired brain injury (ABI). Methods: This retrospective, multicenter, cohort study included 151 patients with DoC following ABI, consecutively admitted for a 6-month neurorehabilitation program. Data on etiology of brain injury, evolution of DoC, disability and rehabilitation assessments, and death during rehabilitation were collected at baseline and on discharge. Thyroid function tests (serum TSH, fT4 and fT3 levels) were assessed on admission in all patients and at final discharge in 50 patients. Results: Lower baseline TSH levels and greater TSH increments (ΔTSH) after neurorehabilitation predicted a favorable change in DoC independent of age, sex, BMI, etiology of brain injury and initial DoC subtype (TSH: OR=0.712, CI 95% 0.533-0.951, p=0.01; ΔTSH: OR=2.878, CI 95% 1.147-7.223, p=0.02). On the other hand, neither fT4 nor fT3 or their variations appeared to play any role on DoC changes after 6-months inpatient neurorehabilitation. A lower magnitude of ΔfT4 acted as a strong predictor of improved functional disability level (ß=0.655, p=0.002) and cognitive functions (ß=-0.671, p=0.003), implying that smaller changes in fT4 were associated with higher outcomes. Conclusions: Serum TSH levels assessed in the subacute post-ABI phase and its variation during neurorehabilitation could represent a potential biomarker of DoC evolution, while variations in fT4 levels seem to be associated with rehabilitation and cognitive functions. Further studies are needed to investigate the mechanisms underlying these associations.


Asunto(s)
Lesiones Encefálicas , Trastornos de la Conciencia , Lesiones Encefálicas/complicaciones , Lesiones Encefálicas/rehabilitación , Estudios de Cohortes , Estado de Conciencia , Trastornos de la Conciencia/complicaciones , Trastornos de la Conciencia/rehabilitación , Humanos , Estudios Retrospectivos , Tirotropina , Resultado del Tratamiento
14.
NeuroRehabilitation ; 51(4): 665-679, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36530098

RESUMEN

BACKGROUND: The use of robotic technologies in pediatric rehabilitation has seen a large increase, but with a lack of a comprehensive framework about their effectiveness. OBJECTIVE: An Italian Consensus Conference has been promoted to develop recommendations on these technologies: definitions and classification criteria of devices, indications and limits of their use in neurological diseases, theoretical models, ethical and legal implications. In this paper, we present the results for the pediatric age. METHODS: A systematic search on Cochrane Library, PEDro and PubMed was performed. Papers published up to March 1st, 2020, in English, were included and analyzed using the methodology of the Centre for Evidence-Based Medicine in Oxford, AMSTAR2 and PEDro scales for systematic reviews and RCT, respectively. RESULTS: Some positives aspects emerged in the area of gait: an increased number of children reaching the stance, an improvement in walking distance, speed and endurance. Critical aspects include the heterogeneity of the studied cases, measurements and training protocols. CONCLUSION: Many studies demonstrate the benefits of robotic training in developmental age. However, it is necessary to increase the number of trials to achieve greater homogeneity between protocols and to confirm the effectiveness of pediatric robotic rehabilitation.


Asunto(s)
Niños con Discapacidad , Enfermedades del Sistema Nervioso , Robótica , Niño , Humanos , Marcha , Robótica/métodos , Enfermedades del Sistema Nervioso/rehabilitación , Niños con Discapacidad/rehabilitación
15.
J Pediatr Rehabil Med ; 14(3): 525-532, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34180430

RESUMEN

BACKGROUND: Coffin-Siris syndrome is a rare genetic disease with heterozygous variants in the ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 or SOX11 genes. It may manifest with somatic anomalies, deafness, urogenital malformations, recurrent infections, mental retardation, speech deficit, agenesis of the corpus callosum, convulsions, hypotonia, developmental delay, and scoliosis. CASE REPORT: A 14-year-old boy with Coffin-Siris syndrome due to variants in the ARID1A gene was referred to the clinic. His rehabilitation over a 9-year period was described. The problem of assessment and the approach to rehabilitation was discussed, enabling a progressive remodelling of the cognitive-behavioural disorders that most hindered the possibility of his acquiring new skills and achieving social and family integration. CLINICAL REHABILITATION: A protracted, customised, multiprofessional rehabilitation approach, centred on realistic functional objectives, implemented with the direct involvement of the family and school, was the only way to achieve the maximum independence and social and family integration permitted by his residual disability.


Asunto(s)
Deformidades Congénitas de la Mano , Discapacidad Intelectual , Micrognatismo , Anomalías Múltiples , Adolescente , Proteínas Cromosómicas no Histona , Cognición , ADN Helicasas , Proteínas de Unión al ADN , Cara/anomalías , Deformidades Congénitas de la Mano/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Micrognatismo/genética , Cuello/anomalías , Proteínas Nucleares , Factores de Transcripción
16.
Appl Neuropsychol Adult ; : 1-8, 2021 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-34663139

RESUMEN

BACKGROUND: Impairment of executive functions is a frequent and disabling consequence of brain injury. In 1991, Shallice and Burgess elaborated the Multiple Errand Test (MET) to assess everyday troubles associated with this impairment. OBJECTIVE: Our first aim was to create a generic version of MET (MET-G) readily adaptable to different settings and for retesting. The second aim was to validate the revised version to detect executive impairment in individuals with severe ABI. METHODS: An inter-professional team of experts in neurorehabilitation created a revised version of MET. Twenty-one patients with sABI (severe Acquired Brain Injury) and a control group of 20 neurologically healthy subjects, took part in the testing of MET-G. RESULTS: MET-G clearly distinguished people with sABI from healthy controls based on Total error score, task completion, and rule breaking. The test showed good inter-rater reliability and internal consistency. CONCLUSIONS: The new, generic version of MET was able to differentiate adults with sABI from controls and proved to be a good tool for evaluating executive functions in these patients in daily-life contexts. Indications on how to adapt the test to different contexts and different scoring modalities are provided.

17.
Eur J Phys Rehabil Med ; 56(4): 386-393, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32434312

RESUMEN

BACKGROUND: Driving is a complex activity that requires a wide range of cognitive, behavioral, sensory and motor competences that are often impaired in cases of severe acquired brain injury (sABI). A safe return to driving is an objective significantly correlated with recovery of personal independence and social-occupational role. AIM: The study investigated elements predictive of the possibility of a safe return to driving after sABI, concentrating on motor disability and the need to prescribe vehicle assistive devices. DESIGN: Retrospective study. SETTING: Out-patients of a rehabilitation center for sABI. POPULATION: A series of 217 patients with stable sABI, well reintegrated at family and social level, were enrolled between January 2006 and June 2019. METHODS: The subjects were assessed for residual competences. Those who passed assessment of cognitive-behavioral and visual impairment were assessed for motor disability and the need for vehicle assistive devices to enable a safe return to driving. RESULTS: About 79% of the population were judged suitable for a return to driving. More than 50% of the latter were only able to return to driving with the aid of vehicle assistive devices. Etiological and demographic variables were not predictive of assessment outcome, whereas the various Griffith motor disability categories were correlated with need for vehicle assistive devices, which are most needed in non-traumatic subjects. CONCLUSIONS: Although the literature on return to driving after brain injury focuses mainly on cognitive-behavioral impairment, in a significant percentage of cases it is also necessary to carefully analyse and manage motor disabilities that may result from sABI. CLINICAL REHABILITATION IMPACT: Evaluation of the competences necessary for a return to driving after sABI requires a multiprofessional team that must also assess motor disability and know the possible vehicle assistive devices that can enable most candidates to overcome the limits imposed by their disability.


Asunto(s)
Conducción de Automóvil , Lesiones Encefálicas/fisiopatología , Lesiones Encefálicas/rehabilitación , Personas con Discapacidad/rehabilitación , Dispositivos de Autoayuda , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recuperación de la Función , Estudios Retrospectivos , Adulto Joven
18.
J Cent Nerv Syst Dis ; 11: 1179573519843492, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31037040

RESUMEN

Late recovery of consciousness in vegetative state is considered as an exceptional outcome and has been reported prevalently in patients who suffered a traumatic brain injury. In these patients, the benefits of prolonging the rehabilitation, aimed at the recovery of autonomy in basic everyday activities, has been demonstrated. Here, we describe the application of an intensive multi-professional rehabilitation program carried out on a young female patient, with exceptionally late recovery of consciousness, specifically, after 7 years of vegetative state due to severe brain hemorrhage. Neuropsychological and functional assessment was conducted before and after the end of the rehabilitation program. In addition, functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI)-based probabilistic tractography were performed. Two follow-up neuropsychological and functional assessments were also conducted 6 and 29 months after the conclusion of the program. Functional results showed an improvement, maintained over time, in walking with assistance, cognitive efficiency, visual acuity and visual field, dysarthria, and execution of activities of daily living. Moreover, functional and structural magnetic resonance imaging (MRI) data documented the existence of preserved neural networks involved in sensory, motor, and linguistic tasks, which in all likelihood support the recovery process. This report suggests the possibility of undertaking an intensive rehabilitation program in patients who remain for long periods in altered states of consciousness, in spite of early negative prognosis.

19.
J Pediatr Rehabil Med ; 11(2): 133-137, 2018 07 04.
Artículo en Inglés | MEDLINE | ID: mdl-28655139

RESUMEN

BACKGROUND: There is evidence that channelopathies are the cause of many different neurological diseases. The epileptic perinatal encephalopathy due to mutation in the KCNQ2 gene is a rare disease involving severe tetraparesis and cerebral visual impairment. Diseases of this kind are associated with severe disability that involves multiple systems and requires accurate genetic diagnosis and early multidisciplinary care once clinical stability is reached. CASE REPORT: We describe a case of a baby girl with KCNQ2 encephalopathy who came to our observation for rehabilitation at age 2 years and 6 months. CLINICAL REHABILITATION IMPACT: We stress the importance of a correct clinical, pharmacological and visual diagnosis. Correct diagnosis made it possible to involve the baby girl and her care-giver in an early process of visual rehabilitation lasting 6 months, the effects of which proved to persist at follow-up after more than a year, making it possible to start a useful inter-professional rehabilitation plan.


Asunto(s)
Canalopatías/complicaciones , Epilepsia/etiología , Canal de Potasio KCNQ2/genética , Mutación/genética , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/rehabilitación , Canalopatías/diagnóstico , Preescolar , Femenino , Humanos , Trastornos de la Visión/etiología
20.
Eur J Phys Rehabil Med ; 54(5): 717-723, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29144107

RESUMEN

BACKGROUND: Driving is a complex ability requiring a broad range of motor, cognitive-behavioral and visual skills that may be impaired after severe acquired brain injury (sABI). Resumption of driving is perceived as a major need by patients, being closely linked to personal autonomy, work and social activities. AIM: The objective of this study was to identify a short battery of neuropsychological tests with predictive value with regard to safe return to driving after sABI. DESIGN: Observational study. SETTING: Outpatient of a rehabilitation center for sABI. POPULATION: A continuous series of 127 patients with stable sABI, well-reintegrated at a family and social level, dismissed since at least one year from the end of their intensive rehabilitation, enrolled between 2006 and 2014. METHODS: Patients underwent an extensive battery of neuropsychological tests (pencil and paper and specific PC programs), aimed at assessing cognitive functions, in performance and verbal tasks. The results were analyzed in relation to their on-road performance during the driving test conducted by the office of the Italian Government Authority (success or failure of the test). RESULTS: No correlations were found between demographic data, etiology, driving experience, verbal competence and the decision of the competent authority. Significant correlation was found between attention, executive functions, overall visual-spatial exploration and driving performance. CONCLUSIONS: Both "pencil and paper" and computerized tests in the cognitive domains of attentive functions, and those involving performance with visual-spatial material, are significantly correlated with the driving test outcome, even if there is not enough evidence of the relative value of off-road compared to direct on-road tests. CLINICAL REHABILITATION IMPACT: We propose a small neuropsychological battery of tests with normative data for Italian population, predictive with respect to the ability to drive safely. We recommend to use it as first screening before submitting patients to more demanding and risky on-road driving tests.


Asunto(s)
Conducción de Automóvil/psicología , Lesiones Encefálicas/fisiopatología , Pruebas Neuropsicológicas , Adulto , Atención , Examen de Aptitud para la Conducción de Vehículos , Cognición , Función Ejecutiva , Femenino , Humanos , Masculino , Desempeño Psicomotor
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