Effect of a Rehabilitation Program Including Home-Based Vibration-Assisted Therapy on Gait Parameters in Children with Cerebral Palsy.

OBJECTIVES: The aim of the present study was to examine the effects of a rehabilitation program combined with a home-based vibration-assisted therapy on gait parameters in children with cerebral palsy (CP). METHODS: In a retrospective study, 180 children, 101 boys and 79 girls, (mean age 7.2 ± 3.3 years) with CP at Gross Motor Function Classification System (GMFCS) Level I and Level II were examined using gait analyses with the Leonardo Mechanograph® Gangway at three measurement points. The measurements were conducted before (M0) and after a six-month rehabilitation period (M6), as well as 12 months after the commencement of rehabilitation (M12). The difference between measurement points M6-M0 (treatment interval) and M12-M6 (follow-up interval) were compared, and significance was determined using the Wilcoxon test. RESULTS: Children with CP at GMFCS Level I and II demonstrated a significant improvement in gait efficiency (pathlength/distance M6-M0: -0.053 (SD 0.25) vs M12-M6: -0.008 (0.36), p=0.038). There were no significant difference in change of mean velocity and average step length between M6-M0 and M12-M6 (p=0.964 and p=0.611). CONCLUSIONS: The rehabilitation program seems to enhance gait efficiency in children with CP. German Clinical Trial Registry: DRKS0001131 at www.germanctr.de.

A randomized controlled trial protocol for the introduction of a multidisciplinary individualized nutritional intervention in children with cerebral palsy.

Introduction: Children with Cerebral Palsy (CP) encounter substantial nutritional challenges that impair their health and quality of life. Despite the importance of nutrition in managing CP and the recognition of physiological, behavioral, and social causes of malnutrition, research on the effectiveness of individualized nutritional interventions developed and supported by multidisciplinary teams is scarce. Aim: The study will evaluate the impact of an individualized nutritional intervention developed and supported by a multidisciplinary team on the anthropometric outcomes and overall health of children with CP. Methods: A single-center, randomized controlled trial, conducted at the Medical University of Varna, Bulgaria, will enroll 100 children aged 2-12 years and diagnosed with CP. Participants will be randomly assigned to either an intervention group, receiving comprehensive structured dietary assessment and individualized nutrition plan developed by a multidisciplinary team of experts, or to a standard care group. Outcomes assessed will focus on anthropometric measures of nutritional status, but also include health outcomes, child development and clinical assessments, and quality of life indicators. Ethics: Ethical approval for this study has been obtained from the Medical Ethics Committee at the Medical University of Varna (Protocol No. 134 dated 20.07.2023). Conclusion: This study will assess the benefits of a multidisciplinary, individualized nutritional intervention for children with CP. The findings will have implications for clinical guidelines and interventions aiming to improve their care and quality of life.

Double echo steady-state free precession technique in MR neurography to evaluate extracranial facial nerve involvement in a case of Bell's palsy.

Bell's palsy is the most common cause of facial weakness involving the facial nerve. While brain MRI is often acquired to evaluate for pathology along the intracranial course of the facial nerve, evaluation of inflammation affecting the extracranial segments of the facial nerve, particularly the intraparotid segments, is uncommon. We present a case report of acute Bell's palsy in a 35-year-old pregnant patient at 38 weeks' gestation. A double-echo steady state MR neurography technique, MENSA (Multi-Echo iN Steady-state Acquisition), acquired with a conformable prototype neck coil, was utilized to visualize abnormal enlargement and signal hyperintensity of the left intraparotid facial nerve. The case highlights a presentation of Bell's palsy affecting the extracranial segments of the facial nerve. This technique may be useful for longitudinal monitoring of Bell's palsy, planning of targeted treatments, and for evaluating other pathologies affecting the facial nerve.

Diagnostic Dilemma: Tuberculosis Mastoiditis in an Immunocompromised Patient.

Tuberculosis (TB) is endemic in Malaysia but rarely affects the middle ear cleft. Common presentations of TB mastoiditis include unilateral, painless otorrhea, multiple small perforations of the tympanic membrane, and facial nerve palsy, although these symptoms can vary among patients. The diagnosis of TB mastoiditis is challenging due to its rarity and its similar presentation to common bacterial ear infections. This often leads to missed diagnoses, resulting in significant delays in treatment and potential complications. CT scans and histopathological examinations are crucial for diagnosing TB mastoiditis. Real-time polymerase chain reaction offers higher sensitivity and specificity compared to conventional methods for detecting Mycobacterium tuberculosis. TB infection should be considered in cases of otitis media that do not respond well to empirical antibiotic therapy. It is essential to send appropriate samples for TB testing to ensure timely diagnosis and treatment. This case report highlights the diagnostic challenges and complications encountered in a 22-year-old immunocompromised woman with TB mastoiditis.

Pairing transcutaneous vagus nerve stimulation with an intensive bimanual training in children and adolescents with cerebral palsy: study protocol of a randomized sham-controlled trial.

Background: Gross motor function impairments and manual dexterity deficits are frequently observed in children and adolescents with Cerebral Palsy (CP), having a major impact on their activity level and autonomy. Improving manual dexterity and activity level of patients with CP is often the focus of rehabilitation. Novel and adjuvant treatment methods that could support the standard training also in chronic conditions are a research priority. The transcutaneous Vagus Nerve Stimulation (tVNS) is a non-invasive brain stimulation technique, which provides a bottom-up stimulation of subcortical and cortical brain structures, enhancing brain GABA and Noradrenaline levels. This technique may play a pivotal role in brain plasticity, which has not been tested in CP patients before. Methods: 44 children and adolescents with CP will be involved, treated in pairs in a randomized, double-blind, pre-post test study. The two groups will undergo the Hand-Arm Bimanual Intensive Therapy Including Lower Extremities (HABIT-ILE) for 2 consecutive weeks, with 3 h daily sessions for 5 days per week, for an overall time interval of 30 h; the training will be combined with the application for 75 min/day of active or sham tVNS, in separate, randomly allocated groups. The primary outcome measure will include the scores at the Assisting Hand Assessment and Box and Block Test, and at an ad-hoc visuomotor task evaluating manual visuomotor control. Secondary outcomes will include the scores at the Children's Hand Experience Questionnaire, Canadian Occupational Performance Measure, Melbourne Assessment of Unilateral Upper Limb Function, Gross Motor Function Measure, Vineland, Pediatric quality of life inventory. The evaluation points will include pre (T0), post (T1) and 3-month follow up (T2) assessments. Safety and tolerability will also be assessed. Results: The results of this trial will assess whether tVNS can effectively boost the effects of an intensive two-week bimanual training, in improving manual dexterity in children and adolescents with cerebral palsy, ensuring safety and tolerability throughout the intervention period.Clinical trial registration: ClinicalTrials.gov, NCT06372028.

Peripheral facial palsy in children: Serum Borrelia antibodies may reduce the need for lumbar puncture.

AIM: We aimed to investigate the causes of acute peripheral facial palsy (PFP) in Danish children and to explore whether neuroborreliosis-related PFP could be diagnosed without lumbar puncture using clinical symptoms and serum Borrelia burgdorferi (Bb) antibodies. METHODS: This retrospective population-based cohort study included children undergoing lumbar puncture for PFP between 2019 and 2023 in Denmark's Capital Region. Diagnostic performance measures for neuroborreliosis-related PFP were compared between serum Bb IgG alone and clinical risk scores combining Bb IgG with clinical parameters. RESULTS: Of the 326 patients with PFP, 137 (42%) were diagnosed with neuroborreliosis and 151 (46%) had Bell's palsy. Positive predictive value for serum Bb IgG alone was 88% (95% CI 79-93) and negative predictive value was 83% (95% CI 75-88). The positive predictive value of a risk score with seven additional parameters was 90% (95% CI 81-95) and negative predictive value 87% (95% CI 80-92). CONCLUSION: The positive predictive value of serum Bb IgG alone was high in our setting, where nearly half of children with PFP had neuroborreliosis. In high endemic settings, lumbar punctures may be reduced by (i) treating all children with PFP with doxycycline or (ii) treating Bb IgG positive children and performing lumbar puncture in seronegative children.

The contribution of white matter changes to clinical phenotype in progressive supranuclear palsy.

White matter hyperintensities (WMH) are considered magnetic brain imaging (MRI) biomarkers of cerebral small vessel disease but their clinical role in neurodegenerative-related disorders is poorly understood. This study describes the distribution of WMH on brain MRI in Progressive Supranuclear Palsy (PSP) in comparison with Parkinson's disease (PD) and explores their possible impact on disease's features. Sixty PSP and 33 PD patients were included. Motor symptoms, cardiovascular risk factors and the age-related white matter changes (ARWMC) score was computed to rate WMH for both groups. Pearson's correlation and linear or logistic regression analysis were used to check for relationships between ARWMC and PSP clinical scores. The mean (standard deviation) ARWMC total score in the PSP cohort was 4.66 (3.25). Any degree of WMH was present in 68% of PSP (ARWMC +). Compared to ARWMC-, ARWMC + did not have greater disease severity or more cardiovascular risk factors. WMH were frequently localized in fronto-parietal lobes and were mild in severity. Linear regression analysis showed that ARWMC total score was related to the PSP-rating scale, irrespective of age, disease duration and the Charlson modified comorbidity index. Logistic regression analysis confirmed that ARWMC total score was related to the use of wheelchair, irrespective of above-mentioned covariates. Vascular risk factors as well as severity and distribution of WMH did not have an impact on the PSP phenotype. No differences were found with PD patients. Our results suggest that WMH in PSP might be markers of neurodegenerative-related pathology rather than being simple expression of atherosclerotic cerebrovascular changes.

Immune checkpoint inhibitors-associated cranial nerves involvement: a systematic literature review on 136 patients.

OBJECTIVE: Describe the demographic data and clinical phenotype of cranial palsy induced by immune checkpoint inhibitors (CNP-ICI). METHODS: A systematic literature review of the literature was performed in Pubmed, Web of Science, and Embase, including 68 articles and 136 patients (PROSPERO no. CRD42024517262). RESULTS: Out of the 1205 articles screened, 68 articles were included after fulfilling the inclusion criteria, for a total of 136 patients. All articles were case reports and case series. In the cohort studied, 52% of patients were treated with anti PD-1/PDL-1 therapies, 14% with anti CTLA-4 therapies, and 34% with a combination of anti CTLA-4 and anti PD-1/PDL-1 therapies. The facial nerve was the most affected cranial nerve, involved in 38% of cases, followed by the optic nerve (35%), the cochleovestibular nerve (12%), and the abducens nerve (10%). The median time from the initial immune checkpoint inhibitor (ICI) injection to the onset CNP-ICI was 10 weeks (IQR 4-20). Magnetic resonance imaging demonstrated contrast enhancement or abnormal signal of the affected nerve in 43% of cases. Cerebrospinal fluid analysis indicated lymphocytic pleocytosis in 59% of cases. At the onset of immune-related adverse events, 89% of patients discontinued immunotherapy, and 92% received treatment for CNP-ICI. Treatment regimens included corticosteroids in 86% of cases, intravenous immunoglobulin in 21%, and plasma exchange in 5.1%. Among the whole population, 33% achieved recovery, 52% showed clinical improvement, 16% remained stable, and 3% experienced worsening of their condition. Rechallenge with immunotherapy was significantly associated with the emergence of new immune-related Adverse Events (irAEs). CONCLUSION: ICI therapy may lead to cranial nerve involvement, particularly affecting the facial nerve, typically presenting around 10 weeks after treatment initiation. While corticosteroid therapy often resulted in patient improvement, rechallenging with ICIs were associated with new irAEs.

The impact of ankle-foot orthotics on selective motor control during gait in children and adolescents with cerebral palsy.

BACKGROUND: Children with cerebral palsy (CP) often exhibit altered selective motor control during gait (SMCg). Ankle-foot-orthoses (AFOs) are used in this population to improve gait, by reducing the degrees of freedom at the ankle joint. However, the specific impact of AFOs on SMCg and whether this effect is more related to gait deviations or motor development remains unclear. RESEARCH QUESTION: Do AFOs impact SMCg, and is the change related to joint kinematics or age? METHODS: Gait analysis data from 53 children and adolescents with spastic CP, walking both barefoot and with AFOs, were included. Electromyography data from six lower-limb muscles, and lower limb joint kinematics were analyzed for both walking conditions. SMCg was quantified by the total variance in electromyography activity accounted for by one synergy (tVAF1), where an increase in tVAF1 indicates a decrease in SMCg. Kinematic gait deviation was assessed using the Gait-Profile-Score (GPS) and sagittal plane ankle Gait-Variable-Score (ankle-GVS). All analyses were performed for the more clinically involved leg only. RESULTS: Walking with AFOs resulted in a mean increase in tVAF1 of 0.02±0.07 (p=0.015) and a median increase in ankle-GVS of 3.4º (p>0.001). No significant changes were observed in GPS, and no correlation was found between the changes in tVAF1 and ankle-GVS. A significant positive moderate correlation was found between the change in tVAF1 and age, even with ankle-GVS as a covariate (r=0.45; p>0.001). SIGNIFICANCE: Walking with an AFO resulted in a small decrease in SMCg, with large inter-participant variability. Younger participants showed a greater decrease in SMCg, which may indicate greater neuromuscular plasticity in early developmental stages.

Development and Validation of the Questionnaire of Young People's Participation-Young Adults (QYPP-YA).

BACKGROUND: The Questionnaire of Young People's Participation (QYPP) was developed for use in children and adolescents. To track participation throughout transition from childhood to adulthood, we adapted it for young adults using focus groups. Aim of this study was to validate this measure, the QYPP-Young Adults (QYPP-YA). METHODS: We recruited young adults with cerebral palsy (CP) and a representative, same-aged sample of the general population (GP). The GP-sample was split into two equivalent subsamples, one part to identify the factor structure via exploratory factor analysis and another part to test the resulting model via confirmatory factor analysis. Reliability and different forms of validity were investigated. RESULTS: The final QYPP-YA includes 17 items assigned to six domains (Autonomy, Independency, Intimate Relationships, Interpersonal Relationships, Social Life, Online Communication). Scales show satisfying internal consistencies in the CP-sample and in the GP-sample, except for 'Online Communication'. Convergent, divergent and known-group validity were confirmed. CONCLUSIONS: The QYPP-YA instrument features promising psychometric characteristics to assess key domains of participation in healthy and disabled young adults. It provides a multidimensional, economic and sound assessment for use in population surveys and clinical trials.

Different care mode alter composition and function of gut microbiota in cerebral palsy children.

Introduction: Specialized care is essential for the recovery of children with cerebral palsy (CP). This study investigates how different care modes impact the gut microbiota. Methods: Fecal samples from 32 children were collected, among whom those cared for by family (n = 21) were selected as the observation group, and those cared for by children's welfare institutions (n = 11) were selected as the control group (registration number of LGFYYXLL-024). The gut microbiota profiles were analyzed. Results: There was no significant difference in the α-diversity of the gut microbiota and the abundance at the phylum level. However, at the genus level, the observation group showed a significant increase in the abundance of butyrate-producing bacteria Bacteroides and Lachnospiracea incertae sedis (P < 0.05), and a significant decrease in the abundance of opportunistic pathogens Prevotella, Clostridium cluster IV, Oscillibacter, and Fusobacterium (P < 0.05). Additionally, lipid metabolism, carbohydrate metabolism, transcription, cellular processes and signaling, and membrane transport were significantly upregulated in the observation group. Lipid metabolism was positively correlated with Bacteroides and Lachnospiracea incertae sedis, indicating a positive impact of the family-centered care mode on bacterial metabolism processes. Discussion: This study highlights that the family-centered care mode had a positive impact on the composition and function of the gut microbiota. The study provides valuable insights into the relationship between care mode and gut microbiota, which can inspire the development of interventions for cerebral palsy.

Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.

Hereditary congenital facial palsy (HCFP) is a medical condition caused by dysfunction of the seventh cranial nerve. HCFP is characterized by feeding difficulties and dysmorphic features in the orofacial region. In some cases hearing loss, strabismus, limb malformations, and musculoskeletal defects may be associated. There are three types of HCFP: HCFP3 (OMIM 614744) results from autosomal recessive pathogenic variants in the HOXB1 gene, while HCFP1 and 2 (OMIM 601471, 604185) are autosomal dominant, genetically less defined conditions. We report on a case of congenital bilateral facial palsy due to two novel compound heterozygous variants in the HOXB1 gene, found by exome sequencing (ES), in a child with facial nerve axonal neuropathy without evidence of nerve hypoplasia on neuroimaging. The results of this report suggest that in individuals with congenital facial paralysis and preserved ocular motor skills, with or without facial nerve hypoplasia and with confirmed facial nerve axonal neuropathy, HOXB1 variants and therefore a diagnosis of HCFP3 should be primarily considered.

Feasibility of a home-based home videogaming intervention with a family-centered approach for children with cerebral palsy: a randomized multiple baseline single-case experimental design.

BACKGROUND: Worldwide, children with cerebral palsy (CP) living in underserved communities face barriers to accessing motor therapy services. This study assessed the implementation and effectiveness of an 8-week, upper limb (UL) home-based intervention with a movement-tracking videogame (Bootle Blast) in Costa Rican children with CP. METHODS: Children established a weekly playtime goal and two UL activities of daily living (ADLs) that they would like to improve on. A multiple-baseline, single-case experimental design, was used with the Performance Quality Rating Scale (PQRS) as the repeated measure to track changes in performance of the selected ADLs between the baseline (usual care) and intervention (Bootle Blast) phases. The Canadian Occupational Performance Measure (COPM), the Box and Blocks Test (BBT) and the Children's Hand-Use Experience Questionnaire (CHEQ) were collected before and after the intervention. Technical barriers were documented during weekly video calls with a monitoring therapist. Treatment effect size, slope changes and percentage of non-overlapping data were identified for the PQRS. Descriptive statistics summarized results for the BBT, CHEQ, videogame logs (e.g., playtime) and technical barriers. RESULTS: Fifteen children participated and 13 completed the intervention. Both participants who dropped out did so after completing baseline assessments, but before experiencing Bootle Blast. Children's mean active playtime (i.e., mini-games targeting the UL) across the 8-weeks was 377 min, while mean total time spent engaging with Bootle Blast (active + passive play time [e.g., time navigating menus, reviewing rewards]) was 728 min. In total, eight technical issues (from five children) were reported, and all but three were resolved within 48 h. Partial effectiveness was associated with the intervention. Specifically, 85% of participants improved on the PQRS and 69% achieved clinically important improvements ≥ 2 points in performance on the COPM. Children improved by 1.8 blocks on average on the BBT, while on the CHEQ, five children had a clinically important increase of 10% of the total number of UL activities performed with both hands. CONCLUSION: Bootle Blast is a feasible and effective option to facilitate access and engage children with cerebral palsy in UL home rehabilitation. Trial registration Trial registration number: NCT05403567.

Microvascular decompression for oculomotor nerve palsy due to non-aneurysmal neurovaslur conflict: 5 cases report and literature review.

BACKGROUND: Oculomotor nerve palsy (ONP) is frequently caused by aneurysm compression and diabetes mellitus. However, non-aneurysmal compression (nAVC) of the oculomotor nerve is a condition rarely reported in the literature. Cases treated with microvascular decompression (MVD) for nAVC-induced ONP (nAVC-ONP) are exceptionally rare. METHODS: Between October 2022 and October 2023, we performed MVD surgery on five patients diagnosed with nAVC-ONP. The clinical symptoms, imaging characteristics, and intraoperative findings of these patients were reviewed and analyzed using a self-developed evaluation scale (S-T Evaluation Scale) to guide diagnosis and corresponding treatment plans. RESULTS: All patients underwent MVDs and demonstrated favorable recovery and a good prognosis. No postoperative complications occurred in any of the patients. The superior cerebellar artery (SCA) and posterior cerebral artery (PCA) were common offending vessels in these cases. CONCLUSION: Neurovascular conflict has been proposed as another possible cause of ONP in a limited number of cases. Based on our findings, MVD is a potentially effective solution for patients experiencing oculomotor nerve palsy resulting from non-aneurysmal neurovascular conflicts. It holds great promise for significantly alleviating symptoms and improving overall quality of life..

MR-guided focused ultrasound in pediatric neurosurgery: current insights, technical challenges, and lessons learned from 45 treatments at Children's National Hospital.

OBJECTIVE: MR-guided focused ultrasound (MRgFUS) is an evolving technology with numerous present and potential applications in pediatric neurosurgery. The aim of this study was to describe the use of MRgFUS, technical challenges, complications, and lessons learned at a single children's hospital. METHODS: A retrospective analysis was performed of a prospectively collected database of all pediatric patients undergoing investigational use of MRgFUS for treatment of various neurosurgical pathologies at Children's National Hospital. Treatment details, clinical workflow, and standard operating procedures are described. Patient demographics, procedure duration, and complications were obtained through a chart review of anesthesia and operative reports. RESULTS: In total, 45 MRgFUS procedures were performed on 14 patients for treatment of diffuse intrinsic pontine glioma (n = 12), low-grade glioma (n = 1), or secondary dystonia (n = 1) between January 2022 and April 2024. The mean age at treatment was 9 (range 5-22) years, and 64% of the patients were male. With increased experience, the total anesthesia time, sonication time, and change in core body temperature during treatment all significantly decreased. Complications affected 4.4% of patients, including 1 case of scalp edema and 1 patient with a postprocedure epidural hematoma. Device malfunction requiring abortion of the procedure occurred in 1 case (2.2%). Technical challenges related to transducer malfunction and sonication errors occurred in 6.7% and 11.1% of cases, respectively, all overcome by subsequent user modifications. CONCLUSIONS: The authors describe the largest series on MRgFUS technical aspects in pediatric neurosurgery at a single institution, comprising 45 total treatments. This study emphasizes potential technical challenges and provides valuable insights into the nuances of its application in pediatric patients.

Are important predictors of adverse outcome in children with symptomatic congenital cytomegalovirus infection overlooked in clinical settings?

OBJECTIVE: Congenital cytomegalovirus infection (cCMV) is a common, frequently unrecognized cause of childhood disability. The aim of the present study was to determine the symptoms that raise the suspicion of cCMV, define the neurodevelopmental outcomes, and assess their correlations. METHODS: This longitudinal observational study comprised 78 children with symptomatic cCMV who underwent neuropediatric follow-up for 4 to 17.9 years. RESULTS: Symptoms of central nervous system involvement, hearing/visual impairments, and hepatic involvement were mostly recognized. The average age of disease suspicion was 3.3 months. In terms of outcomes, 10.53% of the children developed complex minor neurological dysfunction and 23.68% developed cerebral palsy. Visual and hearing impairments occurred in 38.16% and 14.47% of patients, respectively. Intellectual disability was present in 30.26% of patients, and epilepsy in 21.05%. Microcephaly and hearing impairment was significantly associated with overall neurodevelopmental outcome. Microcephaly was also associated with poor motor outcomes, hearing impairment, and severe visual impairment. Furthermore, microcephaly and intrauterine growth restriction were significantly associated with poor cognitive outcomes. CONCLUSION: Symptoms that raised the suspicion of cCMV-especially microcephaly, hearing impairment, and intrauterine growth restriction-were important parameters that were associated with outcomes; however, their recognition was often insufficient and/or late.

Expressive vocabulary intervention for four 2- to 3-year-old children with cerebral palsy and speech/language difficulties: A single-case A-B study.

PURPOSE: To evaluate a parent-delivered expressive vocabulary intervention using focused stimulation for young children with cerebral palsy (CP). METHOD: A single case A-B design was used. Use of expressive target words was evaluated during the baseline (A) and intervention (B) phases. Untrained expressive words were used as control behaviour. Four 2- to 3-year-old boys with CP and their parents participated. All participants had an expressive vocabulary of less than 50 words at study intake. Following training, parents delivered the intervention daily at home for 5 weeks. Generalisation of the intervention was measured with a parent-rated vocabulary checklist. RESULT: Two participants showed clear gains and one participant showed a smaller gain in target words. Two of these three participants did not improve on control words, but one participant increased his use of both target and control words. One participant did not increase his use of either control or target words. All participants improved on parent-reported expressive vocabulary, and for two children, improvements were large. CONCLUSION: Parent-delivered focused stimulation may lead to gains in expressive vocabulary in children with CP and speech and language difficulties. The intervention would be suitable for larger single-case studies with more experimental control.

Preparing Adults with Cerebral Palsy to Move from Assisted to Independent Living.

Background. To evaluate effectiveness of The Greenhouse for autonomy and independence to prepare adults with severe cerebral palsy (CP) for the transition from assisted to independent living. The intervention combines weekly individual sessions using Pathways and Resources for Engagement and Participation together with weekly group sessions. Method. Seven adults with severe CP ages 23-45 years (M = 35; SD = 10) participated in the 20-week program. An Interrupted Time Series quasi-experimental design was used, assessing the intervention effect over time. The Canadian Occupational Performance Measure was administered bi-weekly from baseline to post-intervention to assess activity performance. Functional Independence Measure (FIM), Wheelchair use Confidence scale (WheelCon) and Impact on Participation and Autonomy (IPA) were administered baseline (4 weeks pre-intervention), mid and post-intervention, using Freidman test. Interviews were conducted four weeks after intervention. Findings. All participants' activity performance improved over time with significant clinical improvement in 95% of COPM goals. Significant improvement was seen in FIM (χ2 = 8.07, p = .018) and WheelCon (χ2 = 7.18, p = .028) though not in IPA. Participants described being better prepared, however more aware of challenges. Conclusion. The findings suggest the program may be effective to help adults with severe CP attain goals related to independent living and enhance function.

Transcriptional expression patterns of the cortical morphometric similarity network in progressive supranuclear palsy.

BACKGROUND: It has been demonstrated that progressive supranuclear palsy (PSP) correlates with structural abnormalities in several distinct regions of the brain. However, whether there are changes in the morphological similarity network (MSN) and the relationship between changes in brain structure and gene expression remain largely unknown. METHODS: We used two independent cohorts (discovery dataset: PSP: 51, healthy controls (HC): 82; replication dataset: PSP: 53, HC: 55) for MSN analysis and comparing the longitudinal changes in the MSN of PSP. Then, we applied partial least squares regression to determine the relationships between changes in MSN and spatial transcriptional features and identified specific genes associated with MSN differences in PSP. We further investigated the biological processes enriched in PSP-associated genes and the cellular characteristics of these genes, and finally, we performed an exploratory analysis of the relationship between MSN changes and neurotransmitter receptors. RESULTS: We found that the MSN in PSP patients was mainly decreased in the frontal and temporal cortex but increased in the occipital cortical region. This difference is replicable. In longitudinal studies, MSN differences are mainly manifested in the frontal and parietal regions. Furthermore, the expression pattern associated with MSN changes in PSP involves genes implicated in astrocytes and excitatory and inhibitory neurons and is functionally enriched in neuron-specific biological processes related to synaptic signaling. Finally, we found that the changes in MSN were mainly negatively correlated with the levels of serotonin, norepinephrine, and opioid receptors. CONCLUSIONS: These results have enhanced our understanding of the microscale genetic and cellular mechanisms responsible for large-scale morphological abnormalities in PSP patients, suggesting potential targets for future therapeutic trials.

Prevalence of Seizures in Children Diagnosed With Neurodevelopmental Disorders.

Introduction Neurodevelopmental disorders (NDDs) typically emerge in early childhood and have a profound impact on the development of the nervous system, leading to various neurological challenges in cognition, communication, social interaction, motor skills, and behavior. These disorders arise from disruptions in brain development mechanisms. NDDs include conditions such as cerebral palsy (CP), global developmental delay (GDD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), with ADHD and ASD being the most prevalent. However, there is a lack of comprehensive research on the causes of NDDs in children receiving care at tertiary hospitals in Saudi Arabia. Therefore, in this study, we aim to investigate the characteristics of patients with NDDs and explore the association between NDDs and seizures. It also focuses on identifying specific risk factors that may influence the relationship between NDDs and seizures. Methods We conducted a retrospective cross-sectional study at the pediatric neurology and developmental assessment clinic of King Abdulaziz University Hospital in Jeddah, Saudi Arabia. The study involved a review of electronic medical records from January 2021 to May 2023 for 200 pediatric patients who attended the clinic for NDD and seizures. Descriptive statistics summarized the data, using frequencies and percentages for categorical variables, and mean ± standard deviation for quantitative variables. The chi-square test identified differences between qualitative variables, with a significance threshold of p < 0.05. Results The study sample comprised 200 children ranging in age from one month to 14 years, with the majority of patients being from Jeddah city. Participants were categorized into four age groups: 17.0% (n=34) were aged between one month and three years, 18.5% (n=37) were aged between three and six years, 55.0% (n=110) were aged between six and 12 years old, and 9.5% (n=19) were aged between 12 and 14 years. The NDD subtypes identified were ASD 9.5%, ADHD 16.0%, CP 8.5%, GDD 30.5%, ID 5.5%, and 30% had multiple types of NDD. Generalized tonic-clonic seizures were the most common type observed. Conclusion Children with NDDs exhibit a high prevalence of seizures, with the age of the patient and consanguinity emerging as significant influencing factors in this correlation. Among the key findings is an emphasis on the importance of early detection and intervention for children with NDDs at higher risk of developing seizures. Overall, the study sheds light on the characteristics of NDD patients and their association with seizures, contributing to a better understanding of the complex relationship between NDDs and seizure occurrence. It also emphasizes the need for comprehensive assessment and management strategies that consider seizures in children with NDDs.