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Inflammation is increasingly recognised as a fundamental component of the pathophysiology of major depressive disorder (MDD), with a variety of inflammatory biomarkers playing pivotal roles. These markers are closely linked to both the severity of symptoms and the responsiveness to treatments in MDD. This scoping review aims to explore the scientific literature investigating the complex relationships between inflammatory biomarkers and depression, by identifying new studies and critical issues in current research. Following the PRISMA Extension for Scoping Reviews guidelines, we systematically searched databases including PubMed, Scopus, PsycINFO, Open Grey and Cochrane Library. Our search focused on articles published from 1 January 2020 to 1 May 2024. We included studies evaluating inflammatory biomarkers in adult patients with MDD, utilising observational and randomised controlled trial designs, and review studies. Our analysis examined 44 studies on the complex interplay between inflammation and its multiple effects on MDD. Significant associations between specific inflammatory biomarkers and depression severity were found, requiring cautious interpretation. We also highlight several methodological limitations in the current studies, which warrant caution in directly applying these findings to clinical practice. However, identified methodologies show potential for using these biomarkers as diagnostic tools or therapeutic targets, including anti-inflammatory interventions. The findings emphasise the need for sophisticated, integrative research to understand inflammation's role in MDD. Future studies should identify specific biomarker panels for diagnosing depression and bridging peripheral biomarker measurements with central neuroinflammatory processes, leading to better diagnostic and treatment strategies.

Introduction: This case highlights the unique challenge of difficult‐to‐treat depression (DTD), a complex condition that distinguishes itself from treatment‐resistant depression (TRD) due to its multifaceted nature. DTD is characterized by comorbidities, childhood trauma, symptomatic variability, personal history, substance use, and adherence issues, presenting a significant clinical challenge. Unlike TRD, typically defined by the failure of at least two adequate pharmacological treatments, DTD requires a more comprehensive approach. Recent literature supports a multidisciplinary treatment strategy as the most effective in managing DTD. The patient’s main concerns and important clinical findings: We present the case of a 63‐year‐old female patient with a long‐standing history of unresolved depressive disorder despite multiple pharmacological treatments. Her primary concerns included severe anhedonia, persistent suicidal ideation, and impaired personal and familial functioning. The patient’s history included prior failed treatments, highlighting the complexity of her case. Primary diagnoses, interventions, and outcomes: The patient was diagnosed with DTD. A personalized treatment plan was implemented, integrating a clearly defined multidisciplinary approach: pharmacotherapy, psychotherapy (with a focus on grief and trauma processing), and psychosocial support, including active family involvement through psychoeducation sessions. Neurostimulation techniques were discussed as a potential alternative but were not applied in this case. Over time, the patient demonstrated significant improvement, with a reduction in depressive symptoms, resolution of suicidal ideation, and enhanced personal and familial functioning. Conclusion: This case underscores the need for a personalized treatment approach for DTD that goes beyond pharmacotherapy to include psychotherapy, psychosocial support, and alternative options, such as neurostimulation when indicated. Active involvement of patients and their families is crucial, as evidenced by improvements in clinical and functional scores. Continuous monitoring and treatment adjustments based on objective measures (e.g., HRS‐D, GAF, DTDQ) further optimize outcomes. The case exemplifies how an integrated treatment strategy can address the complexities of DTD, leading to long‐term recovery and improved quality of life. The key takeaway is that managing DTD requires a comprehensive and individualized approach.

Cerebral palsy (CP) is the most common neuromotor disability in children and often results in spastic diplegia, which can lead to crouch gait. This gait pattern, resulting from weakness predominantly in the extensor muscles and spasticity mainly affecting the flexors, is characterized by excessive knee flexion, insufficient hip extension, and excessive ankle dorsiflexion, which together can progressively impair walking. The Agilik powered knee-ankle-foot orthosis is designed to enhance knee extension and potentially improve gait in children with CP. Here we present the protocol of a study that aims to evaluate the clinical effectiveness of Agilik in a domiciliary setting. According to this protocol, the multicentre randomized controlled trial will enrol 40 children with CP (aged 5-17 years) exhibiting crouch gait. Participants will be randomly assigned to either the Intervention Group, which will receive training with the Agilik device, or the Control Group, which will maintain their standard routines and therapies. All participants will undergo physical examination and baseline assessments. Then, while the Control Group continues the usual care, the Intervention Group will begin the Agilik program, including three device fitting visits, 4/5 weeks of hospital training, and two months of home-based sessions. Both groups will be evaluated at three time points: baseline, after the intervention, and at a one-month follow-up. Primary endpoints include the 6-Minute Walking Test and Knee Extension in Mid-Stance computed during gait analysis. Secondary endpoints assess gross-motor abilities, gait speed, 3D gait analysis with electromyography, joint range of motion, muscle length, self-perceived performance, spasticity, and balance. Additionally, the Intervention Group will provide feedback on the usability and acceptability of the device, and on cognitive, behavioural and affective engagement. This trial will provide valuable insights into the effectiveness of the Agilik device in children with CP and crouch gait. It will help emphasizing the potential benefits of the device on daily living activities and gait performance. The findings could influence clinical practice and guide future interventions for managing crouch gait in CP, potentially leading to enhanced quality of life for these children. The trial has been registered the 30th September 2024 on ClinicalTrials.gov with the identifier NCT06622655.

•Blind children lack developmental reduction of central-spindles characteristics.•Young blind children presented low central high-sigma and high-beta ERSP.•High-sigma and high-beta activity in blind group correlated with clinical indices. Sleep plays a crucial role in brain development, sensory information processing, and consolidation. Sleep spindles are markers of these mechanisms as they mirror the activity of the thalamocortical circuits. Spindles can be subdivided into two groups, slow (10–13 Hz) and fast (13–16 Hz), which are each associated with different functions. Specifically, fast spindles oscillate in the high-sigma band and are associated with sensorimotor processing, which is affected by visual deprivation. However, how blindness influences spindle development has not yet been investigated. We recorded nap video-EEG of 50 blind/severely visually impaired (BSI) and 64 sighted children aged 5 months to 6 years old. We considered aspects of both macro- and micro-structural spindles. The BSI children lacked the evolution of developmental spindles within the central area. Specifically, young BSI children presented low central high-sigma and high-beta (25–30 Hz) event-related spectral perturbation and showed no signs of maturational decrease. High-sigma and high-beta activity in the BSI group correlated with clinical indices predicting perceptual and motor disorders. Our findings suggest that fast spindles are pivotal biomarkers for identifying an early developmental deviation in BSI children. These findings are critical for initial therapeutic intervention.

Background The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between genetic predisposition and prenatal exposure to environmental factors is believed to come into play. Being SOD such a heterogeneous condition, disruption of many developmental steps in the early forebrain development might occur. The knowledge of genes possibly determining SOD phenotype should be improved, therefore in this review the authors attempt to highlight the genetic pathways and genes related to this clinical condition. Main body Literature search was conducted and updated in November 2023, using PubMed and Google Scholar to identify primary research articles or case reports with available full text using the following search string “case reports,” “humans,” “septo-optic dysplasia,” “optic nerve hypoplasia,” with a recognized genetic diagnosis. Moreover, a review of genetic pathways with an involvement in SOD etiology was conducted. This review thus represents the authors’ perspective based on selected literature. The several pathways presented might be already associated to other disease phenotypes and interplay with genes and pathways known to have a role in SOD determination. Those pathways may converge and thus, the implicated genes may function as cascading regulators at multiple levels. Conclusion The present data suggest that genes other than HESX1, SOX2, SOX3 , and OTX2 might be investigated in candidate individuals with a clinical diagnosis of SOD corresponding to the presence of at least two diagnostic criteria, particularly in the presence of additional syndromic anomalies.

Background Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis. The clinical investigations and genetic testing needed to establish a diagnosis are outlined, and current management approaches are discussed, focusing on the importance of the involvement of an interdisciplinary team from diagnosis and initial care to long-term follow-up and support. Results The effective management of IRDs requires a multidisciplinary, and ideally interdisciplinary, team of experts knowledgeable about IRDs, with experienced professionals from fields as diverse as ophthalmology, neuropsychiatry, psychology, neurology, genetics, orthoptics, developmental therapy, typhlology, occupational therapy, otolaryngology, and orientation and mobility specialties. Accurate clinical diagnosis encompasses a range of objective and subjective assessments as a prerequisite for the genetic testing essential in establishing an accurate diagnosis necessary for the effective management of IRDs, particularly in the era of gene therapies. Improvements in genome sequencing techniques, such as next-generation sequencing, have greatly facilitated the complex process of determining IRD-causing gene variants and establishing a molecular diagnosis. Genetic counseling is essential to help the individual and their family understand the condition, the potential risk for offspring, and the implications of a diagnosis on visual prognosis and treatment options. Psychological support for patients and caregivers is important at all stages of diagnosis, care, and rehabilitation and is an essential part of the multidisciplinary approach to managing IRDs. Effective communication throughout is essential, and the patient and caregivers’ needs and expectations must be acknowledged and discussed. Conclusion As IRDs can present at an early age, clinicians need to be aware of the clinical signs suggesting visual impairment and follow up with multidisciplinary support for timely diagnoses to facilitate appropriate therapeutic or rehabilitation intervention to minimize vision loss.

Several works have demonstrated that visual experience plays a critical role in the development of allocentric spatial coding. Indeed, while children with a typical development start to code space by relying on allocentric landmarks from the first year of life, blind children remain anchored to an egocentric perspective until late adolescence. Nonetheless, little is known about when and how visually impaired children acquire the ability to switch from an egocentric to an allocentric frame of reference across childhood. This work aims to investigate whether visual experience is necessary to shift from bodily to external frames of reference. Children with low vision and sighted controls between 4 and 9 years of age were asked to solve a visual Switching-Perspective task requiring them to assume an egocentric or an allocentric perspective depending on the task condition. We hypothesize that, if visual experience is necessary for allocentric spatial coding, then low vision children would have been impaired to switch from egocentric to allocentric perspectives. Results support this hypothesis, confirming a developmental delay in the ability to update spatial coordinates in low vision children. It suggests a pivotal role of vision in shaping allocentric spatial coding across development.

Congenital visual impairment may have a negative impact on spatial abilities and result in severe delays in perceptual, social, motor, and cognitive skills across life span. Despite several evidences have highlighted the need for an early introduction of re-habilitation interventions, such interventions are rarely adapted to children’s visual capabilities and very few studies have been conducted to assess their long-term efficacy. In this work, we present a case study of a visually impaired child enrolled in a newly developed re-habilitation intervention aimed at improving the overall development through the diversification of re-habilitation activities based on visual potential and developmental profile, with a focus on spatial functioning. We argue that intervention for visually impaired children should be a) adapted to their visual capabilities in order to increase re-habilitation outcomes, b) multi-interdisciplinary and multidimensional, in order to improve adaptive abilities across development, c) multisensory, to promote the integration of different perceptual information coming from the environment.

We developed the TechArm system as a novel technological tool intended for visual rehabilitation settings. The system is designed to provide a quantitative assessment of the stage of development of perceptual and functional skills that are normally vision-dependent, and to be integrated in customized training protocols. Indeed, the system can provide uni- and multisensory stimulation, allowing visually impaired people to train their capability of correctly interpreting non-visual cues from the environment. Importantly, the TechArm is suitable to be used by very young children, when the rehabilitative potential is maximal. In the present work, we validated the TechArm system on a pediatric population of low-vision, blind, and sighted children. In particular, four TechArm units were used to deliver uni- (audio or tactile) or multi-sensory stimulation (audio-tactile) on the participant's arm, and subject was asked to evaluate the number of active units. Results showed no significant difference among groups (normal or impaired vision). Overall, we observed the best performance in tactile condition, while auditory accuracy was around chance level. Also, we found that the audio-tactile condition is better than the audio condition alone, suggesting that multisensory stimulation is beneficial when perceptual accuracy and precision are low. Interestingly, we observed that for low-vision children the accuracy in audio condition improved proportionally to the severity of the visual impairment. Our findings confirmed the TechArm system's effectiveness in assessing perceptual competencies in sighted and visually impaired children, and its potential to be used to develop personalized rehabilitation programs for people with visual and sensory impairments.

The acquisition of spatial cognition is essential for both everyday functioning (e.g. navigation) and more specific goals (e.g. mathematics), therefore being able to assess and monitor spatial cognition from the first years of life would be essential to predict developmental outcomes and timely intervene whenever spatial development is compromised. Several shreds of evidence have indicated that spatial development can be compromised in the case of development with atypical sensory experience such as blindness. Despite the massive importance of spatial abilities for the development of psychomotor competencies across childhood, only a few standardized and experimental methods have been developed to assess them in visually impaired children. In this review, we will give a short overview of current formal (standardized) and informal (experimental) methods to assess spatial cognition in visually impaired children, demonstrating that very few validated tools have been proposed to date. The main contribution of this current work is to highlight the need of ad-hoc studies to create and validate clinical measures to assess spatial cognition in blind individuals and address potential future developments in this area of research.