Search Results (81)

Background/Objectives: Early experiences can significantly influence brain development, particularly when they occur during specific time windows known as sensitive or critical periods. Therefore, the early promotion of neurodevelopmental functions is crucial in children at risk for neurodevelopmental disabilities, such as those with cerebral palsy. This article introduces AMIRA (A Multidimensional and Integrated Rehabilitation Approach), a rehabilitative framework designed for infants at risk of neurodevelopmental disabilities. Methods: AMIRA is intended to guide clinical–rehabilitation reasoning rather than prescribe a rigid sequence of predetermined activities for the child. The theoretical foundation and structure of AMIRA are presented by formalizing its criteria, objectives, tools, and intervention procedures. The framework comprises four distinct sections, each supported by adaptive strategies to facilitate access to materials and to promote play-based interactions among the child, their environment, and communication partners. Particular attention is given to optimizing both micro- and macro-environments for children with, or at risk of, co-occurring visual impairment. Each rehabilitative section includes three progressive phases: an initial observation phase, a facilitation phase to support the child’s engagement, and an active experimentation phase that gradually introduces more challenging tasks. Results: The intervention pathways in AMIRA are organized according to six core developmental domains: behavioral–emotional self-regulation, visual function, postural–motor skills, praxis, interaction and communication, and cognitive function. These are outlined in structured charts that serve as flexible guidelines rather than prescriptive protocols. Each chart presents activities of increasing complexity aligned with typical developmental milestones up to 24 months of age. For each specific ability, the corresponding habilitation goals, contextual recommendations (including environmental setup, objects, and tools), and suggested activities are provided. Conclusions: This study presents a detailed intervention approach, offering both a practical framework and a structured set of activities for use in rehabilitative settings. Further studies will explore the efficacy of the proposed standardized approach. Full article

Although intracranial hypertension (ICH) has traditionally been framed as simply a numerical escalation of intracranial pressure (ICP) and usually dealt with in its clinical form and not in terms of its complex underlying pathophysiology, an emerging body of evidence indicates that ICH is not simply an elevated ICP process but a complex process of molecular dysregulation, glymphatic dysfunction, and neurovascular insufficiency. Our aim in this paper is to provide a complete synthesis of all the new thinking that is occurring in this space, primarily on the intersection of glymphatic dysfunction and cerebral vein physiology. The aspiration is to review how glymphatic dysfunction, largely secondary to aquaporin-4 (AQP4) dysfunction, can lead to delayed cerebrospinal fluid (CSF) clearance and thus the accumulation of extravascular fluid resulting in elevated ICP. A range of other factors such as oxidative stress, endothelin-1, and neuroinflammation seem to significantly impair cerebral autoregulation, making ICH challenging to manage. Combining recent studies, we intend to provide a revised conceptualization of ICH that recognizes the nuance and complexity of ICH that is understated by previous models. We wish to also address novel diagnostics aimed at better capturing the dynamic nature of ICH. Recent advances in non-invasive imaging (i.e., 4D flow MRI and dynamic contrast-enhanced MRI; DCE-MRI) allow for better visualization of dynamic changes to the glymphatic and cerebral blood flow (CBF) system. Finally, wearable ICP monitors and AI-assisted diagnostics will create opportunities for these continuous and real-time assessments, especially in limited resource settings. Our goal is to provide examples of opportunities that exist that might augment early recognition and improve personalized care while ensuring we realize practical challenges and limitations. We also consider what may be therapeutically possible now and in the future. Therapeutic opportunities discussed include CRISPR-based gene editing aimed at restoring AQP4 function, nano-robotics aimed at drug targeting, and bioelectronic devices purposed for ICP modulation. Certainly, these proposals are innovative in nature but will require ethically responsible confirmation of long-term safety and availability, particularly to low- and middle-income countries (LMICs), where the burdens of secondary ICH remain preeminent. Throughout the review, we will be restrained to a balanced pursuit of innovative ideas and ethical considerations to attain global health equity. It is not our intent to provide unequivocal answers, but instead to encourage informed discussions at the intersections of research, clinical practice, and the public health field. We hope this review may stimulate further discussion about ICH and highlight research opportunities to conduct translational research in modern neuroscience with real, approachable, and patient-centered care. Full article

Background: Arachnoid cysts are typically benign and asymptomatic, but large cysts can exert a mass effect on adjacent neural structures. Based on the available literature, no cases of cortical visual impairment (CVI) in an adolescent caused by posterior fossa arachnoid cysts have been reported. Case presentation: We report the case of a previously healthy 16-year-old girl who presented with sudden and rapidly progressive bilateral visual loss due to a large retrocerebellar arachnoid cyst. She reported blurred vision, tunnel vision-like, and decreased visual acuity. Although neuro-ophthalmologic and imaging workup revealed no damage to the anterior visual pathways, she exhibited progressive visual decline. Functional tests confirmed bilateral cortical visual impairment: pattern-reversal visual evoked potentials (VEPs) showed preserved and symmetric P100 latencies and amplitudes, while automated perimetry revealed bilateral concentric visual field constriction with preserved central islands. Following cystoperitoneal drainage, her vision rapidly and completely recovered. Conclusions: To the best of our knowledge, this is the first reported case of reversible CVI in an adolescent caused by a posterior fossa arachnoid cyst without intracranial pressure (ICP) elevation or optic nerve involvement, and with tunnel vision-like. Our findings emphasize the role of posterior fossa lesions in visual dysfunction and highlight the potential reversibility of cortical visual loss when timely decompression is achieved. This case underscores the importance of including posterior fossa lesions in the differential diagnosis of unexplained bilateral visual loss, even in the absence of elevated intracranial pressure or anterior visual pathway involvement. Full article

Background/Objectives: Cerebral visual impairment (CVI) is the leading cause of visual disability in children, resulting from damage to the brain’s visual processing pathways. Although ocular structures may be intact, functional vision, the use of vision in daily tasks, is often significantly affected. Cognitive Rehabilitation Therapy (CRT) has shown potential to enhance cognitive functions through neuroplasticity, yet its influence on functional vision remains underexplored. This exploratory pilot study aimed to examine whether CRT could improve functional vision in children with CVI by targeting underlying cognitive deficits. Methods: A single-arm pre–post intervention study was conducted with nine children aged 7–11 years diagnosed with CVI. Participants received 20 individualized CRT sessions over ten weeks, integrating principles from the Model of Visual Functioning. Functional vision was evaluated using the Gazi Functional Vision Assessment Instrument (GFVAI), while cognitive improvements were measured with the Dynamic Occupational Therapy Cognitive Assessment for Children (DOTCA-Ch) and the Motor-Free Visual Perception Test-4 (MVPT-4). Data were analyzed using Wilcoxon signed-rank tests. Results: Statistically significant improvements were observed in GFVAI domains such as light sensitivity, distant visual field, focusing, maintaining focus, and obstacle avoidance (p < 0.05 to p < 0.01). Qualitative analysis also indicated a shift from low/moderate to good/very good performance in most functional vision categories. Cognitive domains, including visual-motor organization, thinking operations, and spatial perception, showed significant gains. Conclusions: CRT may support improvements in functional vision by enhancing cognitive processes in children with CVI. This therapist-led approach is feasible, adaptable, and holds promise for widespread application in pediatric rehabilitation. Full article

Background: Hyperintense vessels (HVs) visualized on FLAIR MRI are believed to reflect sluggish antegrade or retrograde flow in leptomeningeal collaterals that develop in response to major intracranial artery stenosis or occlusion. HV is frequently observed in conditions such as Moyamoya disease and symptomatic ICA/MCA steno-occlusion. However, the relationship between HV and cerebral hemodynamics—and the effect of STA-MCA bypass on HV—remains inadequately characterized. This study aimed to investigate the relationship between HV on FLAIR and cerebral vascular hemodynamic status, as measured by SPECT, in patients with Moyamoya disease and symptomatic ICA/MCA occlusion. The secondary goal was to assess the impact of recanalization through STA-MCA bypass surgery on the presence of HV. Methods: We retrospectively analyzed 49 patients with symptomatic ICA or MCA steno-occlusion who underwent STA-MCA bypass between 2015 and 2020. Pre- and postoperative FLAIR MRIs were evaluated, and HV presence was graded as negative (0), minimal (1), or positive (2). SPECT was utilized to assess cerebrovascular reserve (CVR) in regions exhibiting various HV intensities. Follow-up FLAIR imaging was performed 3–14 months postoperatively to correlate HV changes with hemodynamic improvements observed via SPECT. Result: HV was present in 74% (36/49) of affected hemispheres. Regions exhibiting minimal or positive HV demonstrated a significantly lower CVR compared to HV-negative areas, indicating compromised perfusion. Following bypass surgery, HV was reduced or resolved in 65% (32/49) of patients, and this regression corresponded with improved CVR as confirmed by both SPECT and perfusion MRI. Conclusions: HV presence on FLAIR imaging is associated with impaired cerebrovascular hemodynamics in patients with Moyamoya disease or symptomatic large-vessel steno-occlusion. HV-positive territories exhibit reduced CVR, while surgical revascularization via STA-MCA bypass leads to hemodynamic improvement and concurrent HV reduction. These findings support HV as a potential surrogate marker for treatment response. Full article

The prevalence of cerebral amyloid angiopathy (CAA) has been shown to increase with age, with rates reported to be around 50–60% in individuals over 80 years old who have cognitive impairment. The disease often presents as spontaneous lobar intracerebral hemorrhage (ICH), which carries a high risk of recurrence, along with transient focal neurologic episodes (TFNE) and progressive cognitive decline, potentially leading to Alzheimer’s disease (AD). In addition to ICH, neuroradiologic findings of CAA include cortical and subcortical microbleeds (MB), cortical subarachnoid hemorrhage (cSAH) and cortical superficial siderosis (cSS). Non-hemorrhagic pathologies include dilated perivascular spaces in the centrum semiovale and multiple hyperintense lesions on T2-weighted magnetic resonance imaging (MRI). A definitive diagnosis of CAA still requires histological confirmation. The Boston criteria allow for the diagnosis of a probable or possible CAA by considering specific neurological and MRI findings. The recent version, 2.0, which includes additional non-hemorrhagic MRI findings, increases sensitivity while maintaining the same specificity. The characteristic MRI findings of autoantibody-related CAA-related inflammation (CAA-ri) are similar to the so-called “amyloid related imaging abnormalities” (ARIA) observed with amyloid antibody therapies, presenting in two variants: (a) vasogenic edema and leptomeningeal effusions (ARIA-E) and (b) hemorrhagic lesions (ARIA-H). Clinical and MRI findings enable the diagnosis of a probable or possible CAA-ri, with biopsy remaining the gold standard for confirmation. In contrast to spontaneous CAA-ri, only about 20% of patients treated with monoclonal antibodies who show proven ARIA on MRI also experience clinical symptoms, including headache, confusion, other psychopathological abnormalities, visual disturbances, nausea and vomiting. Recent findings indicate that treatment should be continued in cases of mild ARIA, with ongoing MRI and clinical monitoring. This review offers a concise update on CAA and its associated consequences. Full article

Deep venous thrombosis (DVT) is a pathological condition that develops when a thrombus forms within the deep venous system. Typically, it involves the lower limbs and, less frequently, the upper extremities or other unusual districts such as cerebral or splanchnic veins. While leg DVT itself is rarely fatal and occasionally can lead to limb-threatening implications, its most fearsome complication, namely pulmonary embolism, is potentially fatal and significantly contributes to increased healthcare costs and impaired quality of life in affected patients and caregivers. Thanks to its high accuracy, ease of use, and safety profile, duplex ultrasound (DUS), particularly compression ultrasound (CUS), has emerged as the first-line imaging modality for DVT diagnosis. The evaluation of suspected DVT needs a multifaceted approach, and in this context, CUS rapidly became a key diagnostic tool owing to its many unique advantages. Its central role in the diagnostic algorithm of suspected DVT is clearly established in the latest clinical practice guidelines from the European Society for Vascular Surgery and the American Society of Haematology. Indeed, DUS effectively visualizes blood flow and identifies abnormalities like clot formation with high sensitivity (typically exceeding 90% for proximal DVT) and specificity (often approaching 100% for proximal DVT). Additionally, CUS is non-invasive, readily available at the bedside, and avoids radiation exposure, resulting in an ideal method for various clinical settings. CUS has been shown to have a substantial role not only in the diagnosis of an acute DVT but also in the follow-up of its management. Moreover, this method can provide a prognostic assessment, mostly in terms of risk stratification for recurrent thrombosis and/or for potential complications, such as post-thrombotic syndrome. In summary, given its established benefits, CUS is a technique that many physicians should be familiar with, especially those working in emergency departments, intensive care units, or general wards. When needed, healthcare operators with more advanced US skills (such as radiologists, angiologists, or vascular surgeons) may be called upon to provide a second look in case of uncertainty and/or need for additional information. Full article

Background/Objectives: Acute retinal ischemia, including central retinal artery occlusion (CRAO), is recognized as a stroke equivalent by the American Heart Association/American Stroke Association (AHA/ASA), necessitating immediate multidisciplinary evaluation and management. However, referral patterns among ophthalmologists remain inconsistent, and evidence-based therapeutic interventions to improve visual outcomes are currently lacking. CRAO is associated with a significantly elevated risk of subsequent acute ischemic stroke (AIS), particularly within the first week following diagnosis, yet the role of intravenous thrombolysis (IVT) in this setting remains controversial. This case report presents a unique case of CRAO with concurrent internal carotid artery (ICA) occlusion, followed by an AIS affecting the middle cerebral artery (MCA). Case presentation: An 83-year-old woman presented with acute, painless monocular vision loss to the emergency department. IVT was administered within 4.5 h of admission for suspected CRAO associated with ICA occlusion (ICAO) identified on CT-angiography (CTA). One hour post-thrombolysis, CT-perfusion (CTP) confirmed MCA occlusion (MCAO), necessitating mechanical thrombectomy (MT). Successful recanalization was achieved without complications, and the patient demonstrated no functional impairments at discharge. Conclusions: This case underscores the importance of maintaining a vigilant approach to stroke management in CRAO patients. It highlights the diagnostic challenges encountered in clinical practice and advocates for further research into the role of IVT in CRAO cases with ICAO, emphasizing the need for consensus in treatment. Full article

Invasive aspergillosis is a rare but severe fungal infection primarily affecting immunocompromised individuals. The Coronavirus Disease-2019 (COVID-19) pandemic has introduced new complexities in managing aspergillosis due to the widespread use of corticosteroids for treating COVID-19-related respiratory distress, which can increase susceptibility to fungal infections. Here, we present a challenging case of progressive cerebral aspergillosis complicated by cavernous sinus thrombosis (CST) in a 67-year-old male with a history of COVID-19. The patient, initially misdiagnosed with temporal arteritis, received pulse corticosteroid therapy twice before presenting with persistent left-sided headaches and vision loss. Cranial imaging revealed findings consistent with fungal sinusitis, Tolosa–Hunt syndrome, and orbital pseudotumor, which progressed despite initial antifungal therapy. Subsequent magnetic resonance imaging indicated an invasive mass extending into the left cavernous sinus and other intracranial structures, raising suspicion of aspergillosis. A transsphenoidal biopsy confirmed Aspergillus infection, leading to voriconazole therapy. Despite aggressive treatment, follow-up imaging revealed significant progression, with extension to the right frontal region and left cavernous sinus. The patient then developed visual impairment in the right eye and was diagnosed with CST secondary to fungal sinusitis. Management included a combination of systemic antifungals and antibiotics; however, the patient declined surgical intervention. This case underscores the diagnostic challenges and rapid progression associated with cerebral aspergillosis in post-COVID-19 patients treated with corticosteroids. This report highlights the need for heightened clinical suspicion and prompt, targeted interventions in similar cases to improve patient outcomes. Further research is required to understand the optimal management of invasive fungal infections. Full article

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder typically caused by a somatic mosaic mutation in R183Q GNAQ. At-risk children present at birth with a capillary malformation port-wine birthmark. The primary diagnostic characteristic of the disorder includes leptomeningeal enhancement of the brain, which demonstrates abnormal blood vessels and results in impaired venous drainage and impaired local cerebral perfusion. Impaired cerebral blood flow is complicated by seizures resulting in strokes, hemiparesis and visual field deficits, hormonal deficiencies, behavioral impairments, and intellectual disability. Therefore, anti-seizure medication in combination with low-dose aspirin is a common therapeutic treatment strategy. Recently published data indicate that the underlying mutation in endothelial cells results in the hyperactivation of downstream pathways and impairment of the blood–brain barrier. Cannabidiol (CBD) has been used to treat medically refractory seizures in SWS due to its anti-seizure, anti-inflammatory, and neuroprotective properties. Pilot research suggests that CBD improves cognitive impairment, emotional regulation, and quality of life in patients with SWS. Recent preclinical studies also suggest overlapping molecular pathways in SWS and in CBD, suggesting that CBD may be uniquely effective for SWS brain involvement. This review aims to summarize early data on CBD’s efficacy for preventing and treating epilepsy and neuro-cognitive impairments in patients with SWS, likely molecular pathways impacted, and provide insights for future translational research to improve clinical treatment for patients with SWS. Full article

We intend to develop an intervention program based on sports for people with Intellectual and Developmental Disability (IDD) to analyze its effects on physical fitness, quality of life (QoL), and well-being. The convenience sample will consist of at least 24 participants aged between 18 and 65, of both sexes, who are institutionalized with a previous diagnosis of IDD and no associated comorbidities (e.g., visual impairment or cerebral palsy). The participants will be divided into two groups: (i) the experimental group and (ii) the control group. The experimental group will have a weekly session, lasting 60 min, for 36 weeks. There will be a baseline assessment, a final assessment, and a follow-up assessment (three months after the end of the program). The results of this study are intended to contribute to the development of more assertive community interventions, based on sports, for the benefit of this population. Full article

Cerebral palsy is a disorder of central motor and postural development, resulting in limited mobility. Cerebral palsy is often accompanied by cognitive impairment and abnormal behavior, significantly impacting individuals and society. Time, energy, and economic investment in the rehabilitation process is substantial, yet the rehabilitation outcomes often remain unsatisfactory. Additionally, some patients have limited sensory perception during rehabilitation training, making it challenging to effectively regulate exercise intensity. Traditional evaluation methods are mostly based on recovery performance, lack guidance at the neurophysiological level, and have an unequal distribution of medical rehabilitation resources, which pose great challenges to the rehabilitation of patients. Based on the issues mentioned above, this paper proposes a real-time cerebral signal monitoring system based on wearable devices. This system can monitor and store blood oxygen, heart rate, myoelectric, and EEG signals during cerebral palsy rehabilitation, and it can track and monitor signals during the rehabilitation treatment process. The system includes two parts: hardware design and software design. The hardware design includes a data signal acquisition module, a main control chip (ESP32), a muscle electrical sensor module, a brain electrical sensor module, a blood/heart rate acquisition module, etc. It is primarily for real-time signal data acquisition, processing, and uploading to the cloud server. The software design includes functions such as data receiving, data processing, data storage, network configuration, and remote communication and enables the visual monitoring of data signals. The system can achieve real-time monitoring of electromyography, electroencephalography, and blood oxygen levels, as well as the heart rate of patients with cerebral palsy, and adjust rehabilitation training in real-time during the rehabilitation process. At the same time, based on the real-time storage of the original electromyography and electroencephalography data, it can provide auxiliary guidance for later rehabilitation evaluation and effective data support for the entire rehabilitation treatment process. Full article

The impact of ethanol on the fetus is a significant concern as an estimated 2–5% of live births may be affected by prenatal alcohol exposure. This exposure can lead to various functional and structural abnormalities in the cerebral cortex, basal ganglia, diencephalon, and cerebellum, resulting in region-specific symptoms. The deficits relate to the motor and cognitive domains, affecting, in particular, general intelligence, attention, executive functions, language, memory, visual perception, and social skills—collectively called the fetal alcohol spectrum disorder (FASD). Recent studies suggest that damage to the developing cerebellum (in form of alcohol exposure) can impair the cortical targets of the cerebello-thalamo-cortical tract. This malfunction in the cerebello-cerebral loop optimization may be due to disruptions in the formation of the foundational elements of the internal model within the developing cerebellum. Alcohol exposure targets multiple nodes in the reciprocal loops between the cerebellum and cerebral cortex. Here, we examine the possibility that prenatal alcohol exposure damages the developing cerebellum and disrupts the connectivity within the cerebello-cerebral neuronal circuits, exacerbating FASD-related cortical dysfunctions. We propose that malfunctions between cerebellar internal model (critically involved in predictions) and cerebral regions contribute to the deficits observed in FASD. Given the major role of the cerebellum in motor, cognitive, and affective functions, we suggest that therapies should target these malfunctions to mitigate the burden of FASD. We discuss the concept of therapies oriented towards malfunctioning cerebello-cerebral loops (TOMCCLs), emphasizing anti-inflammatory strategies and treatments aimed at modulating cerebellar myelination to restore optimal and predictive cerebello-cerebral functions. Full article

Globally, cerebral microbleeds (CMBs) are increasingly being viewed not only as a marker for cerebral small vessel disease (SVD) but also as having an increased risk for the development of stroke (hemorrhagic/ischemic) and aging-related dementia. Recently, brain endothelial cell activation and dysfunction and blood–brain barrier dysfunction and/or disruption have been shown to be associated with SVD, enlarged perivascular spaces, and the development and evolution of CMBs. CMBs are a known disorder of cerebral microvessels that are visualized as 3–5 mm, smooth, round, or oval, and hypointense (black) lesions seen only on T2*-weighted gradient recall echo or susceptibility-weighted sequences MRI images. CMBs are known to occur with high prevalence in community-dwelling older individuals. Since our current global population is the oldest recorded in history and is only expected to continue to grow, we can expect the healthcare burdens associated with CMBs to also grow. Increased numbers (≥10) of CMBs should raise a red flag regarding the increased risk of large symptomatic neurologic intracerebral hemorrhages. Importantly, CMBs are also currently regarded as markers of diffuse vascular and neurodegenerative brain damage. Herein author highlights that it is essential to learn as much as we can about CMB development, evolution, and their relation to impaired cognition, dementia, and the exacerbation of neurodegeneration. Full article

Mutations in the CRB1 gene are associated with a diverse spectrum of retinopathies with phenotypic variability causing severe visual impairment. The CRB1 gene has a role in retinal development and is expressed in the cerebral cortex and hippocampus, but its role in cognition has not been described before. This study compares cognitive function in CRB1 retinopathy individuals with subjects with other retinopathies and the normal population. Methods: Neuropsychological tests of cognitive function were used to test individuals with CRB1 and non-CRB1 retinopathies and compare results with a standardised normative dataset. Results: CRB1 retinopathy subjects significantly outperformed those with non-CRB1 retinopathy in list learning tasks of immediate (p = 0.001) and delayed memory (p = 0.007), tests of semantic verbal fluency (p = 0.017), verbal IQ digit span subtest (p = 0.037), and estimation test of higher execution function (p = 0.020) but not in the remaining tests of cognitive function (p > 0.05). CRB1 retinopathy subjects scored significantly higher than the normal population in all areas of memory testing (p < 0.05) and overall verbal IQ tests (p = 0.0012). Non-CRB1 retinopathy subjects scored significantly higher than the normal population in story recall, verbal fluency, and overall verbal IQ tests (p = 0.0016). Conclusions: Subjects with CRB1 retinopathy may have enhanced cognitive function in areas of memory and learning. Further work is required to understand the role of CRB1 in cognition. Full article