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1.
BMC Neurol ; 24(1): 245, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-39009990

RESUMEN

BACKGROUND: Improving walking ability is a key objective in the treatment of children and adolescents with cerebral palsy, since it directly affects their activity and participation. In recent years, robotic technology has been implemented in gait treatment, which allows training of longer duration and repetition of the movement. To know the effectiveness of a treatment with the robotic-assisted gait trainer Walkbot combined with physiotherapy compared to the isolated physiotherapy treatment in children and adolescents with cerebral palsy, we carried out a clinical trial. METHODS: 23 participants, were divided into two groups: experimental and control. During 5 weeks, both groups received their physiotherapy sessions scheduled, in addition experimental group received 4 sessions per week of 40 min of robot. An evaluation of the participants was carried out before the intervention, at the end of the intervention, and at follow-up (two months after the end of the intervention). Gait was assessed with the Gross Motor Function Measure-88 dimensions D and E, strength was measured with a hydraulic dynamometer, and range of motion was assessed using the goniometer. A mixed ANOVA was performed when the assumptions of normality and homoscedasticity were met, and a robust mixed ANOVA was performed when these assumptions were not met. Statistical significance was stipulated at p < 0.05. For the effect size, η2 was calculated. RESULTS: Significant differences were found regarding the time x group interaction in the Gross Motor Function Measure-88 in dimension D [η2 = 0.016], in the flexion strength of the left [η2 = 0.128] and right [η2 = 0.142] hips, in the extension strength of the right hip [η2 = 0.035], in the abduction strength of the left hip [η2 = 0.179] and right [η2 = 0.196], in the flexion strength of the left knee [η2 = 0.222] and right [η2 = 0.147], and in the range of motion of left [η2 = 0.071] and right [η2 = 0.053] knee flexion. CONCLUSIONS: Compared to treatments without walking robot, physiotherapy treatment including Walkbot improves standing, muscle strength, and knee range of motion in children and adolescents with cerebral palsy. TRIAL REGISTRATION: ClinicalTrials.gov: NCT04329793. First posted: April 1, 2020.


Asunto(s)
Parálisis Cerebral , Modalidades de Fisioterapia , Robótica , Humanos , Parálisis Cerebral/rehabilitación , Niño , Robótica/métodos , Robótica/instrumentación , Adolescente , Femenino , Masculino , Modalidades de Fisioterapia/instrumentación , Terapia por Ejercicio/métodos , Terapia por Ejercicio/instrumentación , Resultado del Tratamiento , Marcha/fisiología , Trastornos Neurológicos de la Marcha/rehabilitación , Trastornos Neurológicos de la Marcha/etiología , Rango del Movimiento Articular/fisiología , Caminata/fisiología
2.
Clin Biomech (Bristol, Avon) ; 117: 106295, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38954886

RESUMEN

BACKGROUND: Severity of dyskinesia in children with cerebral palsy is often assessed using observation-based clinical tools. Instrumented methods to objectively measure dyskinesia have been proposed to improve assessment accuracy and reliability. Here, we investigated the technique and movement features that were most suitable to objectively measure the severity of dystonia in children with cerebral palsy. METHODS: A prospective observational study was conducted with 12 participants with cerebral palsy with a predominant motor type of dyskinesia, spasticity, or mixed dyskinesia/spasticity who had upper limb involvement (mean age: 12.6 years, range: 6.7-18.2 years). Kinematic and electromyography data were collected bilaterally during three upper limb tasks. Spearman rank correlations of kinematic or electromyography features were calculated against dystonia severity, quantified by the Dyskinesia Impairment Scale. FINDINGS: Kinematic features were more influential compared to electromyography features at grading the severity of dystonia in children with cerebral palsy. Kinematic measures quantifying jerkiness of volitional movement during an upper limb task with a reaching component performed best (|rs| = 0.78-0.9, p < 0.001). INTERPRETATION: This study provides guidance on the types of data, features of movement, and activity protocols that instrumented methods should focus on when objectively measuring the severity of dystonia in children with cerebral palsy.


Asunto(s)
Parálisis Cerebral , Distonía , Electromiografía , Índice de Severidad de la Enfermedad , Extremidad Superior , Humanos , Parálisis Cerebral/fisiopatología , Parálisis Cerebral/complicaciones , Niño , Electromiografía/métodos , Extremidad Superior/fisiopatología , Masculino , Femenino , Adolescente , Distonía/fisiopatología , Distonía/diagnóstico , Fenómenos Biomecánicos , Estudios Prospectivos , Movimiento , Reproducibilidad de los Resultados
3.
Braz J Anesthesiol ; : 844541, 2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-39025325

RESUMEN

BACKGROUND: Although cerebral palsy is a risk factor for aspiration, there is insufficient research on residual gastric volume after preoperative fasting in children with cerebral palsy. We evaluated the incidence of a full stomach by ultrasound assessment of the gastric volume in children with cerebral palsy who underwent orthopedic surgery after preoperative fasting. METHODS: The patients fasted for 8h for solid foods and 2h for clear liquids. We obtained the gastric antral cross-sectional area using ultrasound in the semi-recumbent and right lateral decubitus positions. A calculated stomach volume > 1.5 mL.kg-1 was considered as full, which poses a high aspiration risk. The primary outcome was the incidence of full stomach, and the secondary outcomes were the qualitative gastric volume and correlation of disease severity categorized according to the Gross Motor Function Classification System with the residual gastric volume, gastric volume per body weight, and qualitative gastric volume. RESULTS: Thirty-seven pediatric patients with cerebral palsy, scheduled for elective orthopedic surgery, were included for analysis. Full-stomach status was observed in none, and the gastric volume per body weight was 0.5 (0.4-0.7) mL.kg-1. No significant differences were observed in the residual gastric volume (p = 0.114), gastric volume per body weight (p = 0.117), or qualitative grade of gastric volume (p = 0.642) in relation to disease severities. CONCLUSION: Children with cerebral palsy who fasted preoperatively had empty or nearly empty stomachs. Further studies are required to determine the optimal fasting duration for such children.

4.
Case Rep Ophthalmol ; 15(1): 459-464, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39015232

RESUMEN

Introduction: We report a case of cerebral venous sinus thrombosis (CVST) that presented with bilateral optic disc swelling and diplopia in the absence of headaches. Case Presentation: A 54-year-old woman with no relevant medical history presented with a 2-week history of diplopia and no loss of visual acuity in each eye. Eye movements revealed bilateral abduction deficits, and fundoscopic examination revealed bilateral optic disc swelling. Non-contrast computed tomography of the head showed no abnormalities. Magnetic resonance venography revealed the absence of flow in the superior sagittal and left transverse sinuses as a consequence of thrombosis. The patient was diagnosed with intracranial hypertension associated with abducens nerve palsies secondary to CVST and was initiated on anticoagulant therapy. CVST can lead to stroke even in younger individuals. Conclusion: CVST should be considered in differential diagnosis when bilateral papilledema and abducens nerve palsies are present, even in the absence of headache or other neurological findings.

5.
Iran J Otorhinolaryngol ; 36(4): 527-535, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39015690

RESUMEN

Introduction: Bell's palsy is one of the most concerning complications of the COVID vaccine that has impacted vaccine acceptance among the general population. These vaccines were introduced to provide immunity against the SARS-CoV-2 coronavirus and have been found to be quite effective. Little did we know that Bell's palsy could be one of its serious complications. Materials and Methods: We used various search engines to gather data in the form of a case series and case reports related to patients who were affected by the vaccine and had developed Bell's palsy. Results: A total of eleven case reports and 4 case series were included in the analysis. The vaccines mentioned in the case reports were Pfizer, Moderna, Sinovac, AstraZeneca, and Janssen, while the case series included Pfizer and Sinovac. The majority of patients were female and aged between 31-40 years. Right-sided laterality was observed in 45.45% of patients, left-sided laterality in 45.45% of patients, and bilateral laterality in 9.1% of patients. Three patients had a history of Bell's palsy or stroke. After treatment, three patients showed partial improvement, six patients fully recovered, and the status of two patients was unknown. Conclusions: Bell's palsy is a rare complication that can occur after receiving the COVID-19 vaccine. This review aims to increase awareness about this rare adverse event of the vaccine so that it can be properly addressed and managed. Additionally, it will serve as a foundation for future research on the administration of the COVID-19 vaccine.

6.
Cureus ; 16(6): e62481, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39015866

RESUMEN

INTRODUCTION: Cerebral palsy (CP) is a complex pathological entity that affects muscular control, coordination, proprioception, fine and gross motor abilities, position, stability, and, in some cases, cognition. This study aimed to compare the effects of whole-body vibration therapy (WBVT) in weight bearing and non-weight bearing positions for the upper and lower extremities on balance and cervical joint position sense in children with spastic CP. METHODS: A randomized controlled trial was carried out on 60 hemiplegic children with spastic CP aged 5-15 years. Following randomization, all participants were allocated into six equal-sized groups based on the application of WBVT for upper extremities, lower extremities, or both simultaneously in either weight-bearing or non-weight-bearing positions. Pediatric balance scale (PBS) and laser tracker system were used to assess functional balance and cervical joint position sense. RESULTS: One-way analysis of variance for Inter-group analysis showed a statistically significant difference among all groups in PBS and cervical joint position sense (p<0.05). CONCLUSION: WBVT was found to be beneficial in improving balance and cervical joint position sense in both weight-bearing and non-weight-bearing positions for the upper and lower extremities in children with cerebral palsy. However, the simultaneous application of WBVT in weight-bearing positions for both upper and lower extremities showed the most significant improvements in improving both balance and cervical joint position sense, indicating the most efficacious position of this treatment approach in children with cerebral palsy.

7.
Cureus ; 16(6): e62486, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39015861

RESUMEN

The West Nile virus (WNV) is the leading cause of mosquito-borne disease in the United States. Bell's palsy (BP) is a clinical syndrome associated with viral infections, but an association with West Nile virus (WNV) is not well-described, with only two cases reported in the literature. We present a case of a 68-year-old woman presenting with fevers and encephalopathy. Cerebrospinal fluid was positive for WNV. Following improvement, she developed facial weakness and was diagnosed with BP secondary to the WNV infection. Identifying BP associated with WNV infection may have significant clinical implications, but further studies are needed to fully characterize a causative relationship.

8.
EBioMedicine ; 106: 105229, 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38970919

RESUMEN

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection. In this review, we outline the use of these state-of-the-art technologies to address the molecular diagnostic challenges experienced by individuals with CP. We also explore the importance of identifying a molecular etiology whenever possible, given the potential for genomic medicine to provide opportunities to treat patients with CP in new and more precise ways.

9.
World Neurosurg ; 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38971495

RESUMEN

Vertical 'half-and-half' syndrome, characterized by contralateral upward and ipsilateral downward gaze palsy, is a rare variant of vertical eye movement disturbance. Similarly, pseudo-abducens palsy, manifesting as abductive palsy despite no lesion to the pons, constitutes another rare type of eye movement disturbance. Both conditions have been associated with lesions in the thalamo-mesencephalic junction. We present a rare case report detailing a patient exhibiting vertical 'half-and-half' syndrome with ipsilateral pseudo-abducens palsy following a left lacunar infarction of the thalamo-mesencephalic junction. Additionally, we discuss the potential underlying mechanisms contributing to this rare combination of eye movement disorders.

10.
J Autism Dev Disord ; 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38990371

RESUMEN

BACKGROUND: The data on specific comorbidities in children with dyskinetic cerebral palsy (DCP) is limited. We evaluated the pattern of comorbidities and health related quality of life (HRQOL) in these children and compared them between etiological and motor impairment subgroups. METHODOLOGY: This cross-sectional study was conducted over 18 months in children with DCP of both sex, and age between one and 14 years. Comorbidities were assessed using standardized scales such as gross motor functioning scale (GMFCS), developmental profile-3 (DP-3), developmental behaviour checklist, sleep behaviour questionnaire (SBQ), and caregiver questionnaire. RESULTS: Sixty-five children with DCP were evaluated (hyperbilirubinemia n = 43, 66% and perinatal asphyxia n = 19, 29%). The majority of children were severely affected in gross motor functioning (level IV 29.2% and level V 53.8%). Epilepsy was seen in 21.5% of cases (19% in hyperbilirubinemia and 32% in asphyxia, p = 0.4). The mean age of onset of seizures was 15.4 + 20.6 months (range 2-72). Visual problems were seen in 54% of cases and included upgaze palsy, squint, refractive error, optic atrophy and cortical blindness. A significant proportion of children with hyperbilirubinemia had upgaze palsy as compared to those with perinatal asphyxia (70% vs. 32%, p 0.01). Rest of the visual problems were not significantly different between the two etiological subgroups. Drooling (87.6%), protein-energy malnutrition (66.6%), and reflux (57%) were the most common gastrointestinal problems in children with DCP. Children with DCP showed problems in social relating (33.8%), anxiety (26.2%), and self-absorbed behaviour (7.7%). However, there were no statistically significant differences between the etiological, motor impairment and age-based subgroups. Children with DCP had high scores on SBQ, suggesting sleep problems. Sleep scores were similar in the hyperbilirubinemia and perinatal asphyxia subgroups. Greater sleep problems were noted in children aged < 4y (70.6 + 10.1 vs. 56.5 + 11.3, p < 0.05 as compared to children above 4y of age) and severe motor impairments (68.2 + 11.3 vs. 57.2 + 13.1, p 0.008 as compared to mild-moderate motor impairment). Poor overall developmental scores were seen in 61.5% children and were significantly associated with GMFCS (p 0.04). The majority of children showed impairments in physical (58.5%), adaptive behaviour (58.5%), social-emotional (50.8%), cognitive (60%) and communication (52%) subscales of DP-3. Cognitive impairment was similar in the etiological (hyperbilirubinemia vs. perinatal asphyxia, p = 0.3), and motor impairment (mild-moderate vs. severe, p = 0.9) subgroups. HRQOL was significantly affected by motor impairment in positioning-transfer (p value 0.0001), and interaction-communication domains (p value 0.0001), however, there was no difference based on the etiology of hyperbilirubinemia and asphyxia. CONCLUSION: Children with DCP demonstrate several comorbidities and impaired quality of life. These are similar in hyperbilirubinemia and perinatal asphyxia cohorts, expect for significant proportion of upgaze palsy in DCP secondary to hyperbilirubinemia. Younger children have more problematic behaviour and impaired sleep quality. Severe motor disability influences the developmental outcomes, cognition, sleep and HRQOL in children with DCP.

11.
Child Care Health Dev ; 50(4): e13303, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38991712

RESUMEN

BACKGROUND: Children and young people (CYP) with complex neurodisability experience multiple physical, communication, educational and social challenges, which require complex packages of multidisciplinary care. Part of the holistic care required includes supporting the families and parents/caregivers. The aim of the wider study was to introduce a new programme ('Ubuntu') to parents/caregivers and healthcare professionals (HCPs) in order to test the feasibility and acceptability of the concept and content, with the goal of potential adaptation for the UK in mind. Data collection and analysis uncovered rich data on caregiving journeys, navigation of health services, and perceived service gaps. This paper focuses solely on these topics. Further papers will report on the feasibility and adaptation data. METHODS: Two rounds of semi-structured interviews were conducted with 12 caregivers of CYP with complex neurodisability and six HCPs from a variety of disciplines, recruited from a community child health service in London Borough of Newham, UK in 2020. The interviews included open-ended questions to explore caregiving journeys, experiences of navigating health services and perceived service gaps. Transcripts were analysed using a data-driven inductive thematic analysis. RESULTS: Three themes were identified that related to the aim of understanding caregivers' experiences and unmet needs relating to current service provision. These were (1) Caregiver Mental Health, (2) The Information Gap and (3) The Need for Holistic Support. Mental health difficulties were reported, particularly around the period of diagnosis. Priority needs included the provision of clear information about the diagnosis and services offered, opportunities to forge peer support networks and for services across the community to collaborate. CONCLUSIONS: The delivery of health services for CYP with neurodisability should encompass the broad needs of the family as well as meeting the clinical needs of the CYP.


Asunto(s)
Cuidadores , Necesidades y Demandas de Servicios de Salud , Investigación Cualitativa , Humanos , Cuidadores/psicología , Niño , Masculino , Femenino , Adolescente , Reino Unido , Accesibilidad a los Servicios de Salud , Preescolar , Evaluación de Necesidades , Adulto , Servicios de Salud del Niño/organización & administración , Niños con Discapacidad/rehabilitación , Padres/psicología , Personal de Salud/psicología , Adulto Joven
12.
J Voice ; 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-39003211

RESUMEN

OBJECTIVE: The purpose of this study was to examine a number of pause-and-speech-measurements in patients with unilateral vocal fold paralysis, before and after injection laryngoplasty. The non-invasive measurements were selected to investigate and explain the treatment effect on connected speech in these patients. STUDY DESIGN: Retrospective study with repeated measurements design. METHOD: Voice recordings of 24 patients with unilateral vocal fold paralysis from before and after injection laryngoplasty in local anesthesia were analyzed retrospectively with the computer program Praat. Measurements examined were number of pauses, average pause duration, pause ratio (expressing the amount of pausing during a reading-aloud task), number of breath groups, average duration of breath groups, articulation rate, speaking rate, maximum phonation time, and Voice Handicap Index. RESULTS: Injection laryngoplasty had a significant improving effect on the number of pauses, pause ratio, number of breath groups, average duration of breath groups, articulation rate, speaking rate, maximum phonation time, and Voice Handicap Index. Maximum phonation time before treatment correlated with several pause and speech measurements. CONCLUSION: The results showed that treatment with injection laryngoplasty had a clear effect on several pause and speech measurements and that these measurements correlated with maximum phonation time, but not with Voice Handicap Index.

13.
Artículo en Inglés | MEDLINE | ID: mdl-38978824

RESUMEN

Background: Esotropia resulting from sixth cranial nerve palsy can substantially impact an individual's visual acuity and overall quality of life. If the condition does not resolve in 6-10 months, surgical intervention may be necessary. Various muscle surgeries may be considered, with vertical rectus muscle transposition emerging as the primary option for treatment of complete palsy. However, this technique carries the risk of anterior segment ischemia and post-surgery deviations. Herein, we present a successful treatment of chronic complete sixth nerve palsy using a modified Nishida procedure, without splitting or tenotomy, and an adjunct botulinum toxin A (BTA) injection in the ipsilateral medial rectus muscle. Case Presentation: A 59-year-old woman with a history of traumatic sixth nerve palsy had previously undergone horizontal muscle strabismus surgeries. Following multiple left medial rectus recessions, lateral rectus resection, and BTA injections, esotropia persisted. The worsening of her condition led to emotional distress and impaired social interaction. Initial examination revealed marked esotropia and limited left eye abduction. Magnetic resonance imaging (SIGNA MR750w, GE Healthcare, Waukesha, WI, USA) of the left eye revealed a contracted medial rectus muscle and substantial atrophy of the left lateral rectus muscle. A modified Nishida procedure was performed with an injection of 3 units of BTA into the ipsilateral medial rectus muscle, resulting in improved ocular alignment and stable findings after nine postoperative months. Furthermore, we supported our successful outcome with a summary of similar reported cases of sixth nerve palsy managed using the modified Nishida procedure with or without adjunctive procedures. Conclusions: Following the modified Nishida procedure, the patient experienced a reduction in diplopia, improved ocular alignment and stability, and an increased binocular diplopia-free field. This case underscores the importance of an individualized approach to complex strabismus cases and highlights the modified Nishida procedure as a valuable tool in such circumstances. In the future, strabismus management will focus on refining personalized treatment and exploring innovative techniques for complex cases. Our success in using a combination of Nishida procedure and BTA injection should be further investigated in large-scale studies.

14.
J Orthop Surg Res ; 19(1): 401, 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38992701

RESUMEN

BACKGROUND: Evaluating muscle spasticity in children with cerebral palsy (CP) is essential for determining the most effective treatment strategies. This scoping review assesses the current methods used to evaluate muscle spasticity, highlighting both traditional and innovative technologies, and their respective advantages and limitations. METHODS: A search (to April 2024) used keywords such as muscle spasticity, cerebral palsy, and assessment methods. Selection criteria included articles involving CP children, assessing spasticity objectively/subjectively, comparing methods, or evaluating method effectiveness. RESULTS: From an initial pool of 1971 articles, 30 met our inclusion criteria. These studies collectively appraised a variety of techniques ranging from well-established clinical scales like the modified Ashworth Scale and Tardieu Scale, to cutting-edge technologies such as real-time sonoelastography and inertial sensors. Notably, innovative methods such as the dynamic evaluation of range of motion scale and the stiffness tool were highlighted for their potential to provide more nuanced and precise assessments of spasticity. The review unveiled a critical insight: while traditional methods are convenient and widely used, they often fall short in reliability and objectivity. CONCLUSION: The review discussed the strengths and limitations of each method and concluded that more reliable methods are needed to measure the level of muscle spasticity more accurately.


Asunto(s)
Parálisis Cerebral , Espasticidad Muscular , Humanos , Espasticidad Muscular/fisiopatología , Espasticidad Muscular/etiología , Espasticidad Muscular/diagnóstico , Parálisis Cerebral/complicaciones , Parálisis Cerebral/fisiopatología , Niño , Reproducibilidad de los Resultados , Rango del Movimiento Articular , Diagnóstico por Imagen de Elasticidad/métodos
15.
Artículo en Inglés | MEDLINE | ID: mdl-39001917

RESUMEN

INTRODUCTION: Primary squamous cell carcinoma of the parotid gland typically presents as a palpable, often painless mass. Peripheral facial palsy as the only sign of malignant neoplasia is rare. In these cases, the diagnosis is regularly confirmed by radiological imaging followed by surgical exploration and biopsy. However, if there is no detection of malignant lesions and no evidence of a tumor, the reluctance to take a biopsy of an unremarkable nerve can lead to misdiagnoses. CASE REPORT: A 40-year-old female patient without medical history presented to our clinic with a complete right-sided peripheral facial palsy that had slowly progressed for 2.5 years. All other otorhinolaryngological examination findings were within normal limits. Magnetic resonance imaging examination of the head and neck and 18-fluorodeoxyglucose positron emission tomography showed unremarkable results. We proceeded with surgical exploration, which revealed no evidence of a tumor and an externally completely unremarkable facial nerve. A biopsy from the main trunk area of the nerve revealed an infiltration by a squamous cell carcinoma. Total parotidectomy with resection and reconstruction of the facial nerve and neck dissection was performed. Considering the absence of a primary tumor and other tumor formations the diagnosis of a completely regressive primary squamous cell carcinoma of the parotid gland was confirmed. CONCLUSION: In conclusion, in the case of slow-onset peripheral facial palsy that persists without signs of recovery, a gadolinium-enhanced MRI should be performed. If imaging is unremarkable and there is no primary tumor detection along the course of the facial nerve, a surgical exploration with biopsy of the facial nerve is necessary.

16.
Sensors (Basel) ; 24(13)2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-39000996

RESUMEN

Accurately estimating knee joint angle during walking from surface electromyography (sEMG) signals can enable more natural control of wearable robotics like exoskeletons. However, challenges exist due to variability across individuals and sessions. This study evaluates an attention-based deep recurrent neural network combining gated recurrent units (GRUs) and an attention mechanism (AM) for knee angle estimation. Three experiments were conducted. First, the GRU-AM model was tested on four healthy adolescents, demonstrating improved estimation compared to GRU alone. A sensitivity analysis revealed that the key contributing muscles were the knee flexor and extensors, highlighting the ability of the AM to focus on the most salient inputs. Second, transfer learning was shown by pretraining the model on an open source dataset before additional training and testing on the four adolescents. Third, the model was progressively adapted over three sessions for one child with cerebral palsy (CP). The GRU-AM model demonstrated robust knee angle estimation across participants with healthy participants (mean RMSE 7 degrees) and participants with CP (RMSE 37 degrees). Further, estimation accuracy improved by 14 degrees on average across successive sessions of walking in the child with CP. These results demonstrate the feasibility of using attention-based deep networks for joint angle estimation in adolescents and clinical populations and support their further development for deployment in wearable robotics.


Asunto(s)
Parálisis Cerebral , Electromiografía , Articulación de la Rodilla , Redes Neurales de la Computación , Caminata , Humanos , Parálisis Cerebral/fisiopatología , Electromiografía/métodos , Caminata/fisiología , Adolescente , Articulación de la Rodilla/fisiopatología , Articulación de la Rodilla/fisiología , Masculino , Femenino , Niño , Estudios de Factibilidad , Fenómenos Biomecánicos/fisiología , Músculo Esquelético/fisiopatología , Músculo Esquelético/fisiología , Rodilla/fisiopatología , Rodilla/fisiología , Dispositivos Electrónicos Vestibles , Rango del Movimiento Articular/fisiología
17.
Acta Neuropathol ; 148(1): 4, 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38995454

RESUMEN

Multiple system atrophy (MSA) is a rare neurodegenerative disease characterized by neuronal loss and gliosis, with oligodendroglial cytoplasmic inclusions (GCIs) containing α-synuclein being the primary pathological hallmark. Clinical presentations of MSA overlap with other parkinsonian disorders, such as Parkinson's disease (PD), dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP), posing challenges in early diagnosis. Numerous studies have reported alterations in DNA methylation in neurodegenerative diseases, with candidate loci being identified in various parkinsonian disorders including MSA, PD, and PSP. Although MSA and PSP present with substantial white matter pathology, alterations in white matter have also been reported in PD. However, studies comparing the DNA methylation architectures of white matter in these diseases are lacking. We therefore aimed to investigate genome-wide DNA methylation patterns in the frontal lobe white matter of individuals with MSA (n = 17), PD (n = 17), and PSP (n = 16) along with controls (n = 15) using the Illumina EPIC array, to identify shared and disease-specific DNA methylation alterations. Genome-wide DNA methylation profiling of frontal lobe white matter in the three parkinsonian disorders revealed substantial commonalities in DNA methylation alterations in MSA, PD, and PSP. We further used weighted gene correlation network analysis to identify disease-associated co-methylation signatures and identified dysregulation in processes relating to Wnt signaling, signal transduction, endoplasmic reticulum stress, mitochondrial processes, RNA interference, and endosomal transport to be shared between these parkinsonian disorders. Our overall analysis points toward more similarities in DNA methylation patterns between MSA and PD, both synucleinopathies, compared to that between MSA and PD with PSP, which is a tauopathy. Our results also highlight several shared DNA methylation changes and pathways indicative of converging molecular mechanisms in the white matter contributing toward neurodegeneration in all three parkinsonian disorders.


Asunto(s)
Metilación de ADN , Lóbulo Frontal , Atrofia de Múltiples Sistemas , Enfermedad de Parkinson , Parálisis Supranuclear Progresiva , Sustancia Blanca , Humanos , Parálisis Supranuclear Progresiva/genética , Parálisis Supranuclear Progresiva/patología , Metilación de ADN/genética , Atrofia de Múltiples Sistemas/genética , Atrofia de Múltiples Sistemas/patología , Sustancia Blanca/patología , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/patología , Anciano , Femenino , Masculino , Lóbulo Frontal/patología , Lóbulo Frontal/metabolismo , Persona de Mediana Edad , Anciano de 80 o más Años
18.
J Clin Med ; 13(13)2024 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-38999322

RESUMEN

Background: Cerebral palsy (CP) is the most common physical disability among children, affecting their lifespan. While CP is typically nonprogressive, symptoms can worsen over time. With advancements in healthcare, more children with CP are reaching adulthood, creating a greater demand for adult care. However, a significant lack of adult healthcare providers exists, as CP is predominantly considered a pediatric condition. This study compares the transition experiences of children with CP compared to those with other developmental disabilities (DDs) and typically developing children (TDC). Methods: This study utilizes cross-sectional data from the National Survey of Children's Health (NSCH) from 2016-2020, including 71,973 respondents aged 12-17. Children were categorized into three groups: CP (n = 263), DD (n = 9460), and TDC (n = 36,053). The analysis focused on the receipt of transition services and identified demographic and socioeconomic factors influencing these services. Results: Only 9.7% of children with CP received necessary transition services, compared to 19.7% of children with DDs and 19.0% of TDC. Older age, female sex, non-Hispanic white ethnicity, and higher household income were significant predictors of receiving transition services. Children with CP were less likely to have private time with healthcare providers and receive skills development assistance compared to other groups. Conclusions: The findings highlight disparities and critical needs for targeted interventions and structured transition programs to improve the transition from pediatric to adult healthcare for children with CP. Addressing disparities in service receipt and ensuring coordinated, continuous care are essential for improving outcomes for children with CP.

19.
Int J Mol Sci ; 25(13)2024 Jun 23.
Artículo en Inglés | MEDLINE | ID: mdl-38999992

RESUMEN

Clinical differentiation of progressive supranuclear palsy (PSP) from Parkinson's disease (PD) is challenging due to overlapping phenotypes and the late onset of specific atypical signs. Therefore, easily assessable diagnostic biomarkers are highly needed. Since PD is a synucleopathy while PSP is a tauopathy, here, we investigated the clinical usefulness of serum oligomeric-α-synuclein (o-α-synuclein) and 181Thr-phosphorylated tau (p-tau181), which are considered as the most important pathological protein forms in distinguishing between these two parkinsonisms. We assessed serum o-α-synuclein and p-tau181 by ELISA and SIMOA, respectively, in 27 PSP patients, 43 PD patients, and 39 healthy controls (HC). Moreover, we evaluated the correlation between serum biomarkers and biological and clinical features of these subjects. We did not find any difference in serum concentrations of p-tau181 and o-α-synuclein nor in the o-α-synuclein/p-tau181 ratio between groups. However, we observed that serum p-tau181 positively correlated with age in HC and PD, while serum o-α-synuclein correlated positively with disease severity in PD and negatively with age in PSP. Finally, the o-α-synuclein/p-tau181 ratio showed a negative correlation with age in PD.


Asunto(s)
Biomarcadores , Enfermedad de Parkinson , Parálisis Supranuclear Progresiva , alfa-Sinucleína , Proteínas tau , Humanos , Parálisis Supranuclear Progresiva/sangre , Parálisis Supranuclear Progresiva/diagnóstico , alfa-Sinucleína/sangre , Enfermedad de Parkinson/sangre , Proteínas tau/sangre , Femenino , Masculino , Anciano , Biomarcadores/sangre , Persona de Mediana Edad , Fosforilación , Estudios de Casos y Controles , Diagnóstico Diferencial
20.
Turk J Phys Med Rehabil ; 70(2): 188-196, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38948644

RESUMEN

Objectives: The aim of this study was to investigate the validity and reliability of the Turkish version of the Functional Mobility Scale (FMS) in patients with cerebral palsy. Patients and methods: The validity and reliability study was conducted with 100 cerebral palsy patients (66 males, 34 females; mean age: 6.4±2.7 years; range, 2 to 18 years) between July 2015 and July 2018. The translation of the FMS was performed according to international standards. For test-retest reliability, 54 patients were reevaluated one week after the initial test with the Turkish version of the FMS, and Cohen's weighted kappa values were analyzed. The validity of the scale was assessed by correlating the FMS with the Gross Motor Function Classification System and the Gillette Functional Assessment Questionnaire Walking Scale. Twenty patients were evaluated by two researchers for interobserver reliability. Results: The kappa coefficients for test-retest reliability were 0.90 for FMS 5 m, 0.92 for FMS 50 m, and 0.91 for FMS 500 m. An evaluation of the validity revealed a significant correlation between FMS and the Gross Motor Function Classification System for all distances (r=-0.95, r=-0.96, and r=-0.92 for 5, 50, and 500 m, respectively; p <0.001), as well as the Gillette Functional Assessment Questionnaire Walking Scale (r=-0.95, r=-0.94, and r=-0.91 for 5, 50, and 500 meters, respectively; p <0.001). The kappa coefficients related to interobserver reliability were 0.73 for 5 m, 0.69 for FMS 50 m, and 0.81 for FMS 500 m. Conclusion: The Turkish version of the FMS can be considered a valid and reliable instrument for the assessment of cerebral palsy patients.

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