Severe Disability Research Articles

Fish Species Spinal Cord Injury Models Utility for Research: A Systematic Review of Methodologies and Outcomes

Context: Spinal cord injury (SCI) is a devastating condition that results in severe disability and significant comorbidities. The complex pathophysiology of SCI repair and difficulties understanding neural regeneration are treatment challenges. Objectives: The aim of this study is to systematically review the diverse applications of various fish species as models for SCI research. Evidence Acquisition: PRISMA guidelines were used to review observational and interventional studies that utilized fish species as SCI models, published from inception to July 2023. Two independent reviewers screened and performed the data extraction. One independent reviewer assessed the risk of bias for the included studies. Results: Five thousand six hundred and thirty-three records were reviewed, and 144 met the inclusion criteria and were categorized by fish species. The majority of studies employed complete transection injuries, with the remainder being crush injuries, laser injuries, electro-ablations, and demyelination with substances. Zebrafish (Danio rerio) were most commonly utilized 102/144 (71%), primarily with larval models. Other models included Lamprey (Petromyzon marinus and Lethenteron reissneri); Goldfish (Carassius auratus); European eel (Anguilla Anguilla); Knifefish (Apteronotus leptorhynchus and Apteronotus albifrons); Sailfin Molly (Poecilia latipinna); and African turquoise killifish (Nothobranchius furzeri). Conclusions: This systematic review highlights that fish models, particularly zebrafish, goldfish, and European eels, are important models for further defining SCI pathophysiology and regenerative processes. These models provide a less complex model to gain insights into apoptosis and glial networks.

NSE and S100β as serum alarmins in predicting neurological outcomes after cardiac arrest

Cardiac arrest (CA) is a serious health concern that often results in mortality or severe neurological dysfunction in the case of survival. Our aim was to explore the neurological prognostic factors in patients with CA. This retrospective observational study included adult patients with CA. We investigated serum neuron-specific enolase (NSE), S100 calcium-binding protein β (S100β), and indices and parameters at 1, 3, 5, 7 and intensive care unit (ICU) discharge days after CA. The primary study endpoint was the Cerebral Performance Category (CPC) scale score at ICU discharge, which was dichotomized as good neurological outcome (CPC 1–2: full recovery or moderate disability) and poor neurological outcome (CPC 3–5: severe disability, vegetative state, or death). Of the 191 adult patients with CA, 42 (22%) had good neurological outcomes, and 149 (78%) had poor neurological outcomes. NSE at 1,3,5,7 and ICU discharge days showed excellent predictive accuracy for neurological outcomes (area under the curve [AUC]: 0.666, 0.716, 0.870, 0.739, and 0.901, respectively). However, S100β exhibited general predictive power (AUC: 0.666, 0.573, 0.607, 0.594, 0.727). Finally, the early warning model, which combined day 1 NSE, day 1 S100β, cardiac arrest time, SOFA scores, APACHE II scores, and age, was used to screen CA patients with poor neurological prognosis at early stages and had an AUC of 0.792. Serum concentrations of NSE and S100β were significantly elevated in CA patients and could be prognostic biomarkers to predict neurological outcomes. Day 1 NSE and S100β combined with multiple indicators could be a decent early warning model for poor neurological prognosis in patients with CA.

Effectiveness of targeted financial aid on disability welfare for the ageing population in China: A quasi-experiment study.

Addressing the problem of disabilities and disability deterioration is a key task for healthy ageing. Financial aid has been an effective measure for vulnerable groups, especially ageing people with disabilities. However, the effects of targeted financial aid on preventing disability deterioration remain unknown. The Chinese government launched a targeted financial aid programme aimed at people with disabilities. In this study, we investigated the causal effects of such targeted financial aid on disability deterioration prevention for elderly people with disabilities in China. The data set used in this study included 36 640 elderly individuals with disabilities in China between 2016-19. We constructed a quasi-experiment approach and used a difference-in-differences (DID) method to examine the counterfactual differences between the treatment group in four cities that implemented such targeted financial aid in 2018 and the control group in three cities that did not adopt the policy over the study period. We employed propensity score matching (PSM) jointly with DID to mitigate selective bias. For sensitivity analysis, we conducted supplementary analyses on alternative samples, focusing on each of the treated cities respectively. Besides the main outcome, we also used fixed effect models to test the impact of such financial aid on rehabilitation access. The targeted financial aid significantly reduced the possibility of disability deterioration for elderly people with severe disabilities (0.26%; P < 0.001). Using PSM-DID models, the impact remained significant (0.33%; P < 0.001). Moreover, financial aid was significantly related to their access to rehabilitation services (12.71%; P < 0.001). Further analysis showed the heterogenous effects of targeted financial aid across individual demographic and socioeconomic factors, as well as communities with and without rehabilitation facilities. Targeted financial aid had a positive impact on preventing disability deterioration among elderly individuals aged ≥65 years with severe disabilities. Moreover, rehabilitation care had a potential mediating role in the relationship between targeted financial aid and disability deterioration prevention. This study highlights the effectiveness of targeted financial aid in preventing disability deterioration and improving rehabilitation care for people with disabilities.

Wilson’s disease: A Comprehensive Review of Genetics, Pathophysiology, Clinical Symptoms, Diagnostic Techniques and Current Treatment

Introduction: Wilson's disease (WD) is a genetic disease, inherited in an autosomal recessive manner, caused by a mutation in the ATP7B gene, which results in impaired excretion of copper in the bile. This causes the accumulation of copper in various tissues and organs, leading to their damage. The range and severity of symptoms are wide, so diagnosis is difficult and requires a high index of suspicion. The most common clinical symptoms are hepatic and neuropsychiatric symptoms. Diagnosis is based primarily on clinical suspicion, typical symptoms and reduced serum ceruloplasmin concentration. Treatment includes pharmacological therapies, and in some cases liver transplantation is necessary. Wilson's disease, if left untreated, inevitably leads to serious disability and death. Purpose of the work: This study aims to review and characterize the clinical and pathophysiological aspects of Wilson’s disease. Materials and methods: A comprehensive analysis of research papers available on PubMed, Google Scholar, Web of Science, Embase and Scopus was undertaken using the searchterms encompassing the following keywords: Wilson’s disease, Copper metabolism, Copper toxicity, ATP7B, Ceruloplasmin, Gene Mutation Results: Wilson's disease is a rare genetic disorder that can lead to severe disability and even death. For this reason, rapid diagnosis and appropriately selected and individualized treatment play a key role. Wilson's disease remains a major diagnostic challenge, but new techniques for its diagnosis, such as genotype analysis, mainly through sequencing, as well as newborn screening, may significantly improve patient prognosis in the future.

Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study

BackgroundRecent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence.MethodsWe used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors.ResultsAmong 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59–0.69%) in 2011 to 1.00% (0.94–1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04–1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors.ConclusionThe recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child’s birth. The increase instead may be due to changes in diagnostic practices in Sweden over time.

Surgical Management of large Basal Ganglia Hemorrhage: A Bi-institutional Experience

Background and Aim: Numerous prognostic factors for spontaneous intracerebral hemorrhage have been advocated; however, only a few studies have specifically addressed basal ganglia bleed prognosis and management. Regarding basal ganglia bleeding, this study determines the predictors of functional outcomes and predictors of severe disability or death in surgically treated cases. Methods and Materials/Patients: This was a one-time follow-up study of 271 spontaneous basal ganglia bleed patients undergoing surgical intervention over 3 years. An electronic hospital database was used to collect data regarding clinical and radiological parameters and functional outcomes according to the glasgow outcome scale (GOS) three months after the hemorrhage. Results: We analyzed 271 cases, with a mean age of 50.8±13.57 years. At the end of 3 months, 53.87% of patients had favorable outcomes (GOS=4, 5), 9.59% had poor outcomes (GOS=2, 3) and mortality was 37.75% (GOS=1) at the end of 3 months. Independent predictors of poor outcome were age (odd ratio [OR]=1.81, 95% CI, 1.09%, 3.02%, GCS OR=6.93, 95% CI, 1.52%, 31.51%), hematoma volume more than 60 mL (OR=12.73, 95% CI, 3.29%, 49.23%, midline shift (OR=2.78, 95% CI, 1.64%, 4.73%), the left side of bleed (OR=1.81, 95% CI, 1.11%, 2.94%), intraventricular hemorrhage (OR=2.94, 95% CI, 1.72%, 5.02%) and intraventricular hemorrhage associated with hydrocephalus (OR=22.30, 95% CI, 6.35%, 78.27%). There was a significant association between these factors and poor outcomes (P&lt;0.05). Conclusion: Almost half of the patients with large basal ganglia hemorrhage survivors were severely disabled or died within three months after the event. Basal ganglia hemorrhage was associated with severe disability or death among patients aged over 60 years with left-side bleeding, low GCS on admission, preoperative computed tomography scan showing midline shift of more than 5mm with the presence of intraventricular hemorrhage or associated hydrocephalus and a large hematoma volume.

Multilevel analysis of the central-peripheral-target organ pathway: contributing to recovery after peripheral nerve injury.

Peripheral nerve injury is a common neurological condition that often leads to severe functional limitations and disabilities. Research on the pathogenesis of peripheral nerve injury has focused on pathological changes at individual injury sites, neglecting multilevel pathological analysis of the overall nervous system and target organs. This has led to restrictions on current therapeutic approaches. In this paper, we first summarize the potential mechanisms of peripheral nerve injury from a holistic perspective, covering the central nervous system, peripheral nervous system, and target organs. After peripheral nerve injury, the cortical plasticity of the brain is altered due to damage to and regeneration of peripheral nerves; changes such as neuronal apoptosis and axonal demyelination occur in the spinal cord. The nerve will undergo axonal regeneration, activation of Schwann cells, inflammatory response, and vascular system regeneration at the injury site. Corresponding damage to target organs can occur, including skeletal muscle atrophy and sensory receptor disruption. We then provide a brief review of the research advances in therapeutic approaches to peripheral nerve injury. The main current treatments are conducted passively and include physical factor rehabilitation, pharmacological treatments, cell-based therapies, and physical exercise. However, most treatments only partially address the problem and cannot complete the systematic recovery of the entire central nervous system-peripheral nervous system-target organ pathway. Therefore, we should further explore multilevel treatment options that produce effective, long-lasting results, perhaps requiring a combination of passive (traditional) and active (novel) treatment methods to stimulate rehabilitation at the central-peripheral-target organ levels to achieve better functional recovery.

Counting the costs: understanding the extra costs of living with disability in Indonesia to advance inclusive policies within the SDG framework.

The Sustainable Development Goals (SDGs) are a multidimensional framework for monitoring progress on disability inclusion over time and among countries where reliable, disability disaggregated data is available. However, the SDGs alone do not provide insights into the causes of the social and economic disparities that people with disabilities face or offer specific policy solutions to alleviate them. This paper highlights the extra costs of living with disability in Indonesia to advance the country's commitment to further the rights of people with disabilities. It utilizes three primary estimation methods, combining an analyses of national survey data with primary data from interviews and focus group discussions. Findings reveal significant and varying costs based on disability type, severity and life cycle stages. It also highlights the unaffordability of these costs for most individuals with disabilities and their families. Leveraging these estimates, the paper proposes 'disability concessions' aligned with Indonesia's legal framework on disability inclusion, aiming to alleviate financial burdens through discounts across health, education, utilities and transportation. By contributing to methodological approaches in understanding extra costs of living with disability inclusion in emerging country context and promoting discussions on leveraging the results for disability inclusive policymaking, this paper supplements the SDG framework to foster disability inclusion.

Long-Term Disabilities in ICU Survivors of COVID-19.

COVID-19 is associated with prolonged disability, particularly after critical illness. This study aimed to assess and compare disability post-hospital discharge of subjects who were invasively ventilated versus those who were not, following ICU admission due to COVID-19. This study also explored variables associated with long-term disability. In this prospective cohort study, subjects with COVID-19 who received invasive ventilation, noninvasive ventilation, or high-flow nasal cannula during ICU stay were assessed with the World Health Organization Disability Assessment Schedule (WHODAS) 2.0 at 3 and 6 months post-hospital discharge. Data were analyzed collectively and stratified as subjects with and without invasive mechanical ventilation. Analysis of variance and multiple regression analyses were applied. The subjects (N = 43) were mainly male, middle age, and overweight. Subjects who were invasively ventilated (n = 21) had decreased physical function compared to those who were not during hospital assessments. From 3-6 months after discharge, all WHODAS domains and the overall score decreased in both groups (P < .001), indicating disability recovery. The participation domain, which assesses joining in society, was the only domain that remained worse in the ventilation group compared to the no ventilation group (P = .01). No interaction was found between time and the study groups, suggesting that the recovery trajectory was similar. At 6 months, considering the entire cohort, 70% and 56% had no disability in self-care and getting along domains, respectively, while 42% exhibited moderate to severe disability in the participation domain. According to the overall WHODAS score, 86% of subjects still had some level of disability at 6 months. In multivariate analyses, the overall WHODAS score along with the household and participation domains showed significant positive correlations, indicating higher disability, with corticosteroid use. Disability persisted at 6 month post-hospital discharge for ICU survivors of COVID-19, regardless of the need for invasive mechanical ventilation. Participation was the only domain that showed higher disability among those who received invasive ventilation.

Traumatic brain injury (TBI): Is there anything we can do? A review

Introduction Traumatic brain injury (TBI) is considered a global health crisis. It results in injury to the brain from an external impact leading to severe disability, with higher incidence statistics recently observed in young adults and elderly individuals. Purpose The review aims to analyze current research findings explaining the prevalence, incidence, and demographics of such injuries stressing the need for enhanced prevention and management techniques. The pathophysiology involves a complex cascade of biochemical and cellular events, which results in necrotic-apoptotic neuronal cell death. Method The review synthesizes current research on TBI, highlighting epidemiological data, advanced diagnostics, and effective rehabilitation strategies like physical and cognitive therapy. Findings Traumatic Brain Injury is an important public health issue with high morbidity and mortality rates causing extreme damage to a person, such as comas, catatonic states for various years, or lifelong injury or demolition. Early diagnostic imaging techniques include CT, MRI, advanced neuroimaging methods, and blood-based biomarkers. In the acute setting, initial management is directed toward stabilizing and preventing secondary injuries and early mobilization. The goals of rehabilitation are to promote the highest level of functional independence and physical function, cognitive functions, and social integration. Conclusion This review highlights that the use of new rehabilitation technologies, such as VR-based and robot-assisted therapies, might lead to improved recovery. Long-term supportive care combined with community integration is mandatory for enhancing quality of life. A systematic multidisciplinary team approach and family support are needed for traumatic brain injury survivors.

Thought-Controlled Computer Applications: A Brain–Computer Interface System for Severe Disability Support

This study introduces an integrated computational environment that leverages Brain–Computer Interface (BCI) technology to enhance information access for individuals with severe disabilities. Traditional assistive technologies often rely on physical interactions, which can be challenging for this demographic. Our innovation focuses on creating new assistive technologies that use novel Human–Computer interfaces to provide a more intuitive and accessible experience. The proposed system offers four key applications to users controlled by four thoughts: an email client, a web browser, an e-learning tool, and both command-line and graphical user interfaces for managing computer resources. The BCI framework translates ElectroEncephaloGraphy (EEG) signals into commands or events using advanced signal processing and machine learning techniques. These identified commands are then processed by an integrative strategy that triggers the appropriate actions and provides real-time feedback on the screen. Our study shows that our framework achieved an 82% average classification accuracy using four distinct thoughts of 62 subjects and a 95% recognition rate for P300 signals from two users, highlighting its effectiveness in translating brain signals into actionable commands. Unlike most existing prototypes that rely on visual stimulation, our system is controlled by thought, inducing brain activity to manage the system’s Application Programming Interfaces (APIs). It switches to P300 mode for a virtual keyboard and text input. The proposed BCI system significantly improves the ability of individuals with severe disabilities to interact with various applications and manage computer resources. Our approach demonstrates superior performance in terms of classification accuracy and signal recognition compared to existing methods.

Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India.

Cervical flexion-induced myelopathy, also known as Hirayama disease (HD), is a lower motor neuron disorder seen mainly in adolescents and young adults, affecting the C7-T1 myotomes, presenting as asymmetric weakness with wasting of one or both the distal upper limbs. We aimed to describe the clinical features, electrophysiology, and radiologic features of HD in a tertiary care institute in northern India. One hundred and forty patients between 2017 and 2022 with clinical and imaging features consistent with HD were retrospectively reviewed from the All India Institute of Medical Sciences-Comprehensive Neuromuscular Diseases center database. Majority were males with the mean age of onset of illness being 17.8 years. The median duration of the symptoms was 3 (1.5-4) years. Sixty-nine (49%) patients had unilateral involvement, and the disease was actively progressing in 88 (63%) patients at presentation. Two families had history of HD in two (1.4%) siblings. Electromyography showed abnormal findings in the clinically involved limb in all the patients and in the clinically uninvolved limb in 17/50 (34%) patients. Flexion magnetic resonance imaging (MRI) demonstrated forward dural displacement in 134 (96%) patients and asymmetric cord flattening in 124 (88.5%) patients. Disability was graded as mild, moderate, and severe; 12 (13%) had severe disability. The majority were managed conservatively, and four underwent surgery for HD. A high index of suspicion of HD needs to be kept in a young male presenting with distal upper limb weakness and atrophy. Dynamic MRI of the cervical spine in young adults presenting with hand wasting is inevitable. This disease needs to be managed aggressively and early to prevent serious dysfunction and loss of productivity.

Treatment preferences in spinal muscular atrophy: A swing weighting study for caregivers of patients with SMA types 1 and 2.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by skeletal muscle weakness and atrophy. Patients with SMA types 1 and 2 develop severe disabilities conferring substantial patient and caregiver burden. Caregiver treatment characteristic preferences are useful for informing treatment choices and improving adherence. We aimed to identify drivers of SMA treatment preference from the perspective of caregivers of patients with SMA types 1 or 2 in the United States. We quantified the relative importance of different treatment characteristics and compared preferences for hypothetical treatment scenarios. Treatment attributes and attribute levels elicited were based on a literature search and interviews with caregivers and health care professionals. The most important treatment characteristics from the perspective of health care professionals and caregivers were identified and used in a survey to quantify relative importance for caregivers. Caregivers completed surveys regarding their preferences using swing weighting methodology. These results were used to estimate the relative value of four hypothetical SMA treatment scenarios exploring different modes of treatment administration. The swing weighting survey, completed by 20 caregivers, demonstrated that the attributes driving treatment preference were reduction in permanent ventilation needs and risk of severe adverse events, followed by treatment access (including cost coverage and availability), increased ability to sit without support, and less treatment administration burden. The hypothetical SMA treatment scenarios with the highest relative value offered an easier mode of administration, lowest risk of severe adverse events, less need of permanent ventilation, and highest ability of patients to feed and sit without support. Our findings suggest that caregivers prefer a treatment with reduced clinical burden and risk in which the cost is covered and treatment is available in the short term. These results can provide important contextual information for decision-makers and help promote patient-centered care for patients with SMA.

Vision Care as A Strategy to Prevent Falls Among People with Moderate or Severe Intellectual Disability in the Hostel Setting in Hong Kong

Background: Factors contributing to the higher fall risk among people with intellectual disabilities (PIDs) are complex due to their discrete patterns of multimorbidity. Visual impairment, such as cataract, was common at old age and could be a crucial risk factor. Given the insufficient evidence regarding this relationship, the present study aimed at investigating this issue in a hostel setting in Hong Kong. Methods: This study was conducted in four hostels which served people with moderate to severe intellectual disability. Health data of residents collected in the year of 2022-23 was utilized for the current analysis. Data included fall risk, assessed by Morse Fall Scale, as well as other health conditions (osteoporosis, osteoarthritis, cataract) and demographics (age and gender) among residents. Results: The sample consisted of 199 residents (85 were males and 114 females), with an age range of 22 to 76 years. Around 40% (85; 42.7%) of them aged above 45 years old. Among the whole sample, cataract was the most common health condition and its prevalence reached 27.14%. Those who aged 45-year or above were 4.61 times (95%CI 2.09-11.07) more likely to have cataract. Bivariate analysis results showed that presence of fall risk was associated with older age (above 45 years old; OR 2.38; 95%CI 1.28-4.49), diagnosis of cataract (OR 3.3; 95%CI 1.71-6.33) and osteoarthritis (OR 12.68; 95%CI 1.70-564.75). Logistic regression analysis further illustrated that cataract (p = 0.04) remained as a significant predictor of fall risk after controlling age, gender, osteoarthritis and osteoporosis in the model. Conclusion: Our data showed that presence of cataract diagnosis was significantly associated with higher fall risk among PIDs in hostel setting. Given cataract was a prevalent condition especially among aging PIDs, early screening and intervention could be crucial components of fall prevention strategy in a hostel setting.

Activities of Daily Living Disability Transition Patterns in Older Adults with Chronic Diseases: A Four-Year Cohort Study in China.

Older adults with chronic diseases often experience higher rates of Activities of Daily Living (ADL) disability, with research primarily examining the transition between states of ADL disability and non-disability. The current study aims to analyze the patterns and factors of mutual transitions between multiple different ADL disability states in older adults with chronic diseases. This longitudinal study utilized data from the Shanghai Elderly Care Unified Needs Assessment (SECUNA) spanning 2014 to 2017, with 2014 being the baseline. The study included older adults aged 60 years and older with chronic diseases. Using the Markov model, individuals were classified into three states: no ADL disability, mild ADL disability, and severe ADL disability. Transition patterns were analyzed by calculating the frequency, intensity, and probability of transition, and the influencing factors of six transition scenarios were evaluated. Older adults with mild ADL disability were more likely to experience improvement (transition intensity: 0.4731) rather than deterioration (transition intensity: 0.2226) in their ADL disability states. However, those with severe ADL disability faced challenges in improving their states (transition intensities: 0.0068 and 0.1204). Among the six ADL disability transition scenarios, place of residence was associated with four scenarios, age and economic sources were associated with three scenarios, sex was associated with two scenarios, and other factors were associated with one scenario. The transition patterns and factors differ among individuals with varying ADL disability states. It is essential for relevant agencies to implement tailored preventive healthcare strategies to effectively manage the health status of older adults with chronic diseases.

Assessment of Cervical Joint Position Sense and Head Posture in Individuals With Myogenic Temporomandibular Dysfunctions and Identifying Related Factors: A Case-Control Study.

Temporomandibular dysfunctions (TMDs) have the potential to cause changes in cervical muscle strength, muscle endurance and position sense by changing muscle activation patterns, especially as a result of forward head posture. The effects of TMDs on cervical joint position sense (CJPS) and head posture remain controversial. The aim of this study was to evaluate the head posture and CJPS of individuals with TMDs and compare them with healthy individuals. This research, which was designed as a case-control study, was concluded with the inclusion of total of 84 participants (42 individuals diagnosed with myogenic TMDs, 42 controls). The assessment of participants included pain severity, neck and jaw functionality and disability, CJPS, head posture and temporomandibular joint (TMJ) range of motion (ROM). Individuals with TMDs exhibited higher angular deviation in CJPS during flexion and extension (p < 0.001). Additionally, individuals with TMDs demonstrated higher TMJ pain, limitation and dysfunction severity, as well as a more limited TMJ ROM (p < 0.001). Head posture was similar between groups (p > 0.05). There is a significant relationship between VAS-TMJ with VAS-cervical, FAI, NDI, JFLS-8 and TMJ ROM (p < 0.05). Moreover, a significant correlation was observed between NDI with FAI and TMJ ROM (p < 0.05). These results indicate that in addition to higher pain severity, disability and lower jaw ROM, CJPS of individuals with TMDs is also negatively affected. Also, parameters related to disability and functionality of cervical and TMJ were significantly correlated. Further studies are needed to determine the factors contributing to these results.

Association Between Gut Microbiome Composition and Physical Characteristics in Patients with Severe Motor and Intellectual Disabilities: Perspectives from Microbial Diversity.

The human gut environment undergoes substantial changes as a host ages. This investigation centered on the gut microbiome diversity among patients with severe motor and intellectual disabilities (SMID), examining the association between the gut microbiome composition and physical characteristics with varying levels of diversity. Fourteen subjects were investigated, with physical and defecation status, blood biochemical test, gut microbiome profiling, and fecal metabolites used to divide the patients into a high-diversity group (HD, eight patients) and a low-diversity group (LD, six patients). Findings indicated that the microbiome of the LD group showed delayed maturation reminiscent of neonates and lactating infants. Analysis of the fecal bile acids (BAs) revealed a markedly diminished proportion of deoxycholic acid in the secondary BAs in the LD group, suggestive of inadequate conversion from primary to secondary BAs. Furthermore, the LD group presented with loose stools. The LD group exhibited a higher degree of physical severity, with all patients bedridden and fed via gastrostomy with only enteral formula received. The composition of the gut microbiome and BAs in the LD group was found to differ from those of healthy individuals and the HD group, indicating a potentially immature gut environment for these individuals.

New Onset Refractory Status Epilepticus with diffuse cerebral restricted diffusion in young children; a novel clinical-radiologic presentation

New-onset refractory status epilepticus (NORSE) is a clinical presentation characterized by explosive-onset refractory status epilepticus (RSE) without evident etiology or active epilepsy, often leading to devastating epilepsy. There is heterogeneity in neuroradiographic findings for NORSE. We encountered a series of young patients with NORSE who had diffuse cerebral restriction in diffusion (DCRD) with similar radiographic appearances as acute encephalopathy with biphasic seizures and late restricted diffusion/acute leukoencephalopathy with restricted diffusion (AESD/ALERD). We explore clinical similarities and proposed pathophysiologic overlaps to highlight a novel clinical-radiologic presentation. Retrospective review was completed for patients younger than five years meeting NORSE criteria and then screened for radiographic evidence of DCRD. Demographic, clinical, and outcome data were collected. Eleven patients met NORSE criteria, of whom seven displayed DCRD. Immunosuppressant management varied. All patients required multiple antiseizure medications and continuous infusions for RSE. Only one had an etiology identified (genetic). All but one patient developed diffuse, global, and progressive cerebral atrophy. Two patients died: one after prolonged seizure three years post-NORSE and another of unknown causes two months post-NORSE. Of five survivors, three have medically refractory epilepsy. Most survivors have severe disability. We present a single-center case series of seven patients with NORSE and DCRD, akin to AESD/ALERD. Our patients differed clinically to AESD/ALERD in terms of seizure severity and poorer outcome. There is a need to develop biomarkers for specific NORSE phenotypes. The young child with NORSE and DCRD may represent a novel phenotype with a specific neuroradiographic signature that deserves further attention.

Heart rate variability biofeedback for critical illness polyneuropathy: a randomized sham-controlled study.

Critical illness polyneuropathy (CIP) has been linked to neurocardiac dysfunction mediated by autonomic nervous system dysregulation, which increases mortality. We aimed to assess if heart rate variability (HRV) biofeedback could improve neurocardiac function in CIP. We randomly allocated (1:1) patients with electrophysiologically confirmed CIP undergoing early inpatient neurological rehabilitation to additional HRV or sham biofeedback over 14 days. We evaluated neurocardiac function via standard deviation of normal-to-normal intervals (SDNN) as the primary outcome, as well as HRV frequency domains, sympathetic cutaneous sudomotor and vasomotor functions and disability at baseline, post intervention and 4 weeks later. The study is registered on the German Clinical Trials Register (DRKS00028911). We included 30 patients with CIP (40% females, median [interquartile range] age 64.6 [56, 72] years). We observed an increase in SDNN and the predominantly parasympathetic high frequency domain post intervention (ß = 16.4, 95% confidence interval [CI] 0.2, 32.6 [p = 0.047] and ß = 1179.2, 95% CI 119.9, 2158.5 [p = 0.018]), which was sustained at the 4-week follow-up (ß = 25.7, 95% CI 6.0, 45.4 [p = 0.011] and ß = 25.7, 95% CI 6.0, 45.4 [p = 0.011]). Patients who underwent HRV biofeedback displayed a higher adjusted Barthel index, indicating less severe disability 4 weeks after the intervention compared to those in the sham group (ß = 23.3, 95% CI 5.5, 41.1 [p = 0.014]). Low frequency and sympathetic skin functions did not differ between groups (p = nonsignificant). Our study provides pilot data suggesting that, in patients with CIP, HRV biofeedback can improve neurocardiac function with a predominant effect on the parasympathetic nervous system and has a beneficial effect on functional recovery.

Enhancing daily life for children with cognitive developmental delay through insights into brain development.

Cognitive developmental delay, including severe intellectual disability (IQ below 70) and borderline intellectual functioning (IQ 70-85), poses significant challenges, including high costs and emotional burden. Early diagnosis and interventions might improve adaptive behavior and daily life functioning. High-risk groups include children with neonatal complications, congenital anomalies, genetic disorders, or metabolic errors, yet over 50% of cases have unknown causes. To provide timely diagnosis and intervention for children with cognitive developmental delay, it is important to increase our understanding and ability to prognosticate their level of functioning. The pivotal role of brain development in the first few years of life presents a window of opportunity for these goals. By detailed investigation of common patterns in structural brain development and connectivity by MRI in relation to cognitive and executive functioning, this review aims to identify potential factors that might improve understanding and prognostication of children with cognitive developmental delay. Exploring similarities among diverse patient groups with childhood cognitive developmental delay, this review intends to provide a nuanced perspective. IMPACT: This review identified several MRI brain developmental markers, especially in the white matter, that might hold potential to be a prognostic marker for intellectual and executive functioning in children with cognitive developmental delay. Bringing together information on aberrant brain developmental trajectories and connectivity across different patient childhood populations with cognitive developmental delay might improve our understanding and prognostication.