The latest medical research on Neuromuscular Medicine
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Request AccessEarly administration of umbilical cord blood cells following brief high tidal volume ventilation in preterm sheep: a cautionary tale.
Cerebral PalsyUmbilical cord blood (UCB) cells are a promising treatment for preterm brain injury. Access to allogeneic sources of UCB cells offer the potential for early administration to optimise their therapeutic capacities. As preterm infants often require ventilatory support, which can contribute to preterm brain injury, we investigated the efficacy of early UCB cell administration following ventilation to reduce white matter inflammation and injury.
Preterm fetal sheep (0.85 gestation) were randomly allocated to no ventilation (SHAM; n = 5) or 15 min ex utero high tidal volume ventilation. One hour following ventilation, fetuses were randomly allocated to i.v. administration of saline (VENT; n = 7) or allogeneic term-derived UCB cells (24.5 ± 5.0 million cells/kg; VENT + UCB; n = 7). Twenty-four hours after ventilation, lambs were delivered for magnetic resonance imaging and post-mortem brain tissue collected. Arterial plasma was collected throughout the experiment for cytokine analyses. To further investigate the results from the in vivo study, mononuclear cells (MNCs) isolated from human UCB were subjected to in vitro cytokine-spiked culture medium (TNFα and/or IFNγ; 10 ng/mL; n = 3/group) for 16 h then supernatant and cells collected for protein and mRNA assessments respectively.
In VENT + UCB lambs, systemic IFNγ levels increased and by 24 h, there was white matter neuroglial activation, vascular damage, reduced oligodendrocytes, and increased average, radial and mean diffusivity compared to VENT and SHAM. No evidence of white matter inflammation or injury was present in VENT lambs, except for mRNA downregulation of OCLN and CLDN1 compared to SHAM. In vitro, MNCs subjected to TNFα and/or IFNγ displayed both pro- and anti-inflammatory characteristics indicated by changes in cytokine (IL-18 & IL-10) and growth factor (BDNF & VEGF) gene and protein expression compared to controls.
UCB cells administered early after brief high tidal volume ventilation in preterm fetal sheep causes white matter injury, and the mechanisms underlying these changes are likely dysregulated responses of the UCB cells to the degree of injury/inflammation already present. If immunomodulatory therapies such as UCB cells are to become a therapeutic strategy for preterm brain injury, especially after ventilation, our study suggests that the inflammatory state of the preterm infant should be considered when timing UCB cells administration.
'High hopes for treatment': Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases.
Cerebral PalsyAdvanced therapies offer unprecedented opportunities for treating rare neurological disorders (RNDs) in children. However, health literacy, perceptions and understanding of novel therapies need elucidation across the RND community. This study explored healthcare professionals' and carers' perspectives of advanced therapies in childhood-onset RNDs.
In this mixed-methodology cross-sectional study, 20 healthcare professionals (clinicians, genetic counsellors and scientists) and 20 carers completed qualitative semistructured interviews and custom-designed surveys. Carers undertook validated psychosocial questionnaires. Thematic and quantitative data analysis followed.
Participants described high positive interest in advanced therapies, but low knowledge of, and access to, reliable information. The substantial 'therapeutic gap' and 'therapeutic odyssey' common to RNDs were recognised in five key themes: (i) unmet need and urgency for access; (ii) seeking information; (iii) access, equity and sustainability; (iv) a multidisciplinary and integrated approach to care and support and (v) difficult decision-making. Participants were motivated to intensify RND clinical trial activity and access to advanced therapies; however, concerns around informed consent, first-in-human trials and clinical trial procedures were evident. There was high-risk tolerance despite substantial uncertainties and knowledge gaps. RNDs with high mortality, increased functional burdens and no alternative therapies were consistently prioritised for the development of advanced therapies. However, little consensus existed on prioritisation to treatment access.
This study highlights the need to increase clinician and health system readiness for the clinical translation of advanced therapeutics for RNDs. Co-development and use of educational and psychosocial resources to support clinical decision-making, set therapeutic expectations and promotion of equitable, effective and safe delivery of advanced therapies are essential.
Participant insights into the psychosocial burden and information need to enhance the delivery of care in this formative study are informing ongoing partnerships with families, including co-production and dissemination of psychoeducational resources featuring their voices hosted on the Sydney Children's Hospitals Network website SCHN Brain-Aid Resources.
Early Neurodevelopmental Assessments for Predicting Long-Term Outcomes in Infants at High Risk of Cerebral Palsy.
Cerebral Palsy- importance
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- design, setting, and participants
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Studies suggest that early neurodevelopmental assessments are beneficial for identifying cerebral palsy, yet their effectiveness in practical scenarios and their ability to detect cognitive impairment are limited.
To assess the effectiveness of early neurodevelopmental assessments in identifying cerebral palsy and cognitive and other neurodevelopmental impairments, including their severity, within a multidisciplinary clinic.
This diagnostic study was conducted at Monash Children's Hospital, Melbourne, Australia. Participants were extremely preterm infants born at less than 28 weeks' gestation or extremely low birth weight infants less than 1000 g and term encephalopathic infants who received therapeutic hypothermia, attending the early neurodevelopmental clinic between January 2019 and July 2021. Data were analyzed from December 2023 to January 2024.
Early cerebral palsy or high risk of cerebral palsy, the absence of fidgety movements, and Hammersmith Infant Neurological Examination (HINE) scores at corrected age (CA) 3 to 4 months. Early cerebral palsy or high risk of cerebral palsy diagnosis was based on absent fidgety movements, a low HINE score (<57), and medical neurological examination.
The outcomes of interest were cerebral palsy, cognitive and neurodevelopmental impairments and their severity, diagnosed at 24 to 36 months' CA.
A total of 116 infants (median [IQR] gestational age, 27 [25-29] weeks; 65 [56%] male) were included. Diagnosis of early cerebral palsy or high risk of cerebral palsy demonstrated a sensitivity of 92% (95% CI, 63%-99%) and specificity of 84% (95% CI, 76%-90%) for predicting cerebral palsy and 100% (95% CI, 59%-100%) sensitivity and 80% (95% CI, 72%-87%) specificity for predicting moderate to severe cerebral palsy. Additionally, the accuracy of diagnosis of early cerebral palsy or high risk of cerebral palsy was 85% (95% CI, 77%-91%) for predicting cerebral palsy and 81% (95% CI, 73%-88%) for predicting moderate to severe cerebral palsy. Similarly, the absence of fidgety movements had an 81% (95% CI, 73%-88%) accuracy in predicting cerebral palsy, and HINE scores exhibited good discriminatory power with an area under the curve of 0.88 (95% CI, 0.79-0.97) for cerebral palsy prediction. However, for cognitive impairment, the predictive accuracy was 44% (95% CI, 35%-54%) for an early cerebral palsy or high risk of cerebral palsy diagnosis and 45% (95% CI, 36%-55%) for the absence of fidgety movements. Similarly, HINE scores showed poor discriminatory power for predicting cognitive impairment, with an area under the curve of 0.62 (95% CI, 0.51-0.73).
In this diagnostic study of infants at high risk for cerebral palsy or other cognitive or neurodevelopmental impairment, early neurodevelopmental assessments at 3 to 4 months' CA reliably predicted cerebral palsy and its severity at 24 to 36 months' CA, signifying its crucial role in facilitating early intervention. However, for cognitive impairment, longer-term assessments are necessary for accurate identification.
Development of algorithms for estimating the Child Health Utility 9D from Caregiver Priorities and Child Health Index of Life with Disability.
Cerebral PalsyThe primary aim was to determine Child Health Utility 9D (CHU9D) utilities from the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) for non-ambulatory children with cerebral palsy (CP).
One hundred and eight surveys completed by Australian parents/caregivers of children with CP were analysed. Spearman's coefficients were used to investigate the correlations between the two instruments. Ordinary least square, robust MM-estimator, and generalised linear models (GLM) with four combinations of families and links were developed to estimate CHU9D utilities from either the CPCHILD total score or CPCHILD domains scores. Internal validation was performed using 5-fold cross-validation and random sampling validation. The best performing algorithms were identified based on mean absolute error (MAE), concordance correlation coefficient (CCC), and the difference between predicted and observed means of CHU9D.
Moderate correlations (ρ 0.4-0.6) were observed between domains of the CHU9D and CPCHILD instruments. The best performing algorithm when considering the CPCHILD total score was a generalised linear regression (GLM) Gamma family and logit link (MAE = 0.156, CCC = 0.508). Additionally, the GLM Gamma family logit link using CPCHILD comfort and emotion, quality of life, and health domain scores also performed well (MAE = 0.152, CCC = 0.552).
This study established algorithms for estimating CHU9D utilities from CPCHILD scores for non-ambulatory children with CP. The determined algorithms can be valuable for estimating quality-adjusted life years for cost-utility analysis when only the CPCHILD instrument is available. However, further studies with larger sample sizes and external validation are recommended to validate these findings.
Female RNA concussion (FeRNAC) study: assessing hormone profiles and salivary RNA in females with concussion by emergency departments in New Zealand: a study protocol.
Cerebral PalsyAustralian New Zealand Clinical Trials Registry (ANZCTR) registration number ACTRN12623001129673.
This prospective cohort study recruits participants from New Zealand EDs who are biologically female, of reproductive age (16-50 years) and with a confirmed diagnosis of concussion from an ED healthcare professional. Participants are excluded by ED healthcare professionals from study recruitment as part of initial routine assessment if they have a pre-diagnosed psychiatric condition, neurological condition (i.e., epilepsy, cerebral palsy) or more than three previously diagnosed concussions. Participants provide a saliva sample for measurement of sncRNA's, and online survey responses relating to hormone profile and symptom recovery at 7-day intervals after injury until they report a full return to work/study. The study is being performed in accordance with ethical standards of the Declaration of Helsinki with ethics approval obtained from the Health and Disability Ethics Committee (HDEC #2021 EXP 11655), Auckland University of Technology Ethics Committee (AUTEC #22/110) and locality consent through Wellington hospital research office.
If saliva samples confirm presence of sncRNAs in females with concussion, it will provide evidence of the potential of saliva sampling as an objective tool to aid in diagnosis of, and confirmation of recovery from, concussion. Findings will determine whether expression of sncRNAs is influenced by steroid hormones in females and may outline the need for sex specific application and interpretation of sncRNAs as a clinical and/or research tool.
Reflections on Participation at Home, As Self-Reported by Young People with Cerebral Palsy.
Cerebral PalsyThis study explored the home-based participation of young people with cerebral palsy (CP) and described factors that make participation easier or h...
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Cerebral PalsyCerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we cond...
A prospective assessment of readiness to implement an early detection of cerebral palsy pathway in a neonatal intensive care setting using the PARIHS framework.
Cerebral PalsyEarly detection of cerebral palsy (CP) is possible through targeted use of assessment tools. Changes in practice are needed to facilitate this shift towards earlier diagnosis of CP in New Zealand. The aim of this study was to prospectively evaluate readiness to implement an early detection of CP pathway within a level 3 neonatal intensive care unit (NICU) setting prior to any implementation taking place. The PARIHS (Promoting Action on Research Implementation in Health Services) framework was engaged to assess readiness by highlighting determinants that influence implementation outcomes as either barriers or enablers.
A mixed methods approach was used. Firstly, an online staff survey assessed PARIHS sub-elements using Likert scores and free text with the intent to develop a baseline understanding of staff views. Secondly, focus groups were conducted to gain deeper understanding of barriers and enablers to implementation. Participants included health professionals involved in the first 6 months of life. Data were analysed to outline the barriers and enablers of implementation under the Evidence and Context constructs of the PARIHS framework.
Twenty-seven participants completed the survey, and 20 participants participated in eight focus groups and two individual interviews. Quantitative (survey) findings found 65% agreement around the usefulness of research evidence on early CP detection; however, ≤ 45% felt current resources (i.e. human, financial and IT) were sufficient for implementation. Qualitative findings (survey and focus groups) highlighted key staff concerns around resources, family impact (creating unnecessary stress), and equity (barriers to participation). Staff wanted information regarding how international evidence translates to the local context and availability of timely follow-up services. Sub-elements within the Evidence and Context constructs were rated as either mixed or low (except for Evidence - Research, rated as high), overall indicating that Auckland NICU is at the early stages of readiness to implement the early CP detection pathway.
This work may resonate with other neonatal services preparing to implement CP early detection pathways. Resourcing has a major role in facilitating implementation of pathways and uncertainty about resources is a barrier to implementation. Ongoing focus on building consensus and funding is required to ensure optimal uptake.
Caregiver perspectives of scoliosis surgery for children with cerebral palsy: a qualitative study.
Cerebral PalsyTo explore the perspectives of primary caregivers of children with cerebral palsy (CP) who had spinal surgery for scoliosis.
A qualitative study was conducted using semi-structured interviews and guided by qualitative description methodology. Participants were caregivers of children with CP aged 5-18, who had undergone spinal surgery for scoliosis in Australia. The research team included a parent with lived experience.
Fourteen participants (8 biological mothers), aged 40-49 years, completed online semi-structured interviews. Four themes were identified emerged. Life with a child with CP underpinned all experiences which were founded on familiarity with their child, medical procedures, and hospitalisation. Three subthemes were parents are the experts in knowing their child, children are vulnerable, and impact on caregivers. Theme 2 involved the significance of decision making to proceed with surgery. Theme 3 underscored a need to be prepared for the surgical journey and, in Theme 4, participants spoke of needing to expect the unexpected.
The findings highlight the importance of understanding caregiver experiences and can help inform health professionals and other families in the decision-making process, preparing for and navigating spinal surgery.
Contribution of basal ganglia activity to REM sleep disorder in Parkinson's disease.
Neurology, Neurosurgery and PsychiatryRapid eye movement (REM) sleep behaviour disorder (RBD) is one of the most common sleep problems and represents a key prodromal marker in Parkinson's disease (PD). It remains unclear whether and how basal ganglia nuclei, structures that are directly involved in the pathology of PD, are implicated in the occurrence of RBD.
Here, in parallel with whole-night video polysomnography, we recorded local field potentials from two major basal ganglia structures, the globus pallidus internus and subthalamic nucleus, in two cohorts of patients with PD who had varied severity of RBD. Basal ganglia oscillatory patterns during RBD and REM sleep without atonia were analysed and compared with another age-matched cohort of patients with dystonia that served as controls.
We found that beta power in both basal ganglia nuclei was specifically elevated during REM sleep without atonia in patients with PD, but not in dystonia. Basal ganglia beta power during REM sleep positively correlated with the extent of atonia loss, with beta elevation preceding the activation of chin electromyogram activities by ~200 ms. The connectivity between basal ganglia beta power and chin muscular activities during REM sleep was significantly correlated with the clinical severity of RBD in PD.
These findings support that basal ganglia activities are associated with if not directly contribute to the occurrence of RBD in PD. Our study expands the understanding of the role basal ganglia played in RBD and may foster improved therapies for RBD by interrupting the basal ganglia-muscular communication during REM sleep in PD.
Nutritional status of children with neurodevelopmental disorders: a cross-sectional study at a tertiary-level hospital in northern Bangladesh.
Cerebral PalsyMalnutrition in children with neurodevelopmental disorders (NDDs) is a significant global public health issue. Nutritional assessment combined with management or advice are essential to produce optimal outcomes.
The objective of this study was to assess nutritional status and the sociodemographic profile of children with neurodevelopmental disorders in Bangladesh.
A cross-sectional study was conducted from December to April 2020 among the population of children with NDDs who presented to the pediatric department of the TMSS Medical College and Rafatullah Community Hospital in Bogura during this period. Socio-demographic data along with anthropometric measurements of the children were taken. Assessment of nutritional status were made using metrics such as z-scores for weight-for-age (WAZ), height-for-age (HAZ), and body mass index-for-age (BAZ). Descriptive statistics (number and percentage) and analytical statistics (chi-square and logistic regression) were included.
58.6% of children displayed malnutrition, with 47.8% showing undernutrition (WHZ / BAZ - 1 SD-≤-3 SD), and 10.8% overnutrition (BAZ > 2SD). Significant negative associations were found between malnutrition and parental education level, urban residency, and monthly family income. Children diagnosed with cerebral palsy exhibited twice the likelihood to be malnourished (AOR 2.39, 95% CI 0.83-6.87). Furthermore, residing in rural regions was associated with an increased risk of experiencing malnutrition, as indicated by an adjusted odds ratio of 1.60 (95% CI 0.12-3.09).
While the results are cross-sectional, over half of children with NDDs were found to be malnourished, suggesting that children with NDD in Bangladesh are vulnerable to developing any form of malnutrition. Therefore, regular assessments and timely nutritional support may improve their situation.
Pharmacological and neurosurgical management of cerebral palsy and dystonia: Clinical practice guideline update.
Cerebral PalsyDystonia, typically characterized by slow repetitive involuntary movements, stiff abnormal postures, and hypertonia, is common among individuals wi...
