Over the past decades, many molecular players have been uncovered to control distinct steps of olfactory circuit assembly in Drosophila. Among these, multi-member gene families encoding cell-surface proteins are of interest as they can act as neuron-specific recognition tags in combinations and contribute to circuit assembly in complex brains. Recently, a multi-protein interactome has been described between Beat and Side families of IgSF proteins. Here, we use newly generated gene trap transgenic driver lines to probe the spatial expression pattern of beat/side genes in olfactory receptor neurons (ORNs) and their synaptic target projection neurons (PNs). Our results revealed that each ORN/PN class expresses a specific combination of beat/side genes, hierarchically regulated by lineage-specific genetic programs. To explore whether the class-specific expression of beats/sides defines ORN-PN matching specificity, we perturbed presynaptic beat-IIa and postsynaptic side-IV in two ORN-PN partners. However, disruption of Beat-IIa-Side-IV interaction did not produce any significant mistargeting in these two examined glomeruli. Our expression mapping revealed that the Beat/Side interactome between ORNs and PNs appears to be error-tolerant, supporting the robust trans-synaptic recognition. Though without affecting general glomerular targeting, knockdown of side in ORNs leads to the reduction of synaptic development. Interestingly, we found conserved expression patterns of beat/side orthologs across ORNs in ants and mosquitoes, indicating the shared regulatory strategies specifying the expression of these duplicated paralogs in insect evolution. This also implies the biological significance of beats/sides in ORN circuit development or function, which is preserved under selective pressure across divergent insect lineages. Overall, this comprehensive analysis of expression patterns lays a foundation for in-depth functional investigations into how Beat/Side combinatorial expression contributes to the olfactory circuit assembly.

Nurses practice in clinical environments shaped by escalating administrative demands, documentation burdens, and persistent cognitive overload, structural pressures that contribute significantly to burnout and workforce attrition. Generative artificial intelligence (AI) offers a new form of cognitive support that, when implemented responsibly, can reduce the administrative load constraining nursing practice. We examine the early use of an in-house generative AI health assistant designed to predraft documentation and streamline communication. Rather than replacing clinical judgment, we position AI as a structural intervention that expands nurses' cognitive capacity and restores time for direct care and therapeutic engagement. We also explore the integration of electroencephalography data captured through brain-computer interface (BCI) devices such as Galea and EMOTIV headsets. This approach enables real-time insights into clinicians' cognitive workload and emotional states by translating neurophysiological signals into actionable information. By identifying neural indicators associated with stress, anxiety, and fatigue, the system can prompt timely supports as strain emerges. To ensure feasibility within clinical workflows, these wireless BCI systems are deployed during structured documentation periods and simulation-based training sessions. Combining neurotechnology, machine learning, and generative AI, this approach converts neural signals into meaningful insights that support clinician well-being while preserving professional integrity through nursing-led governance and safeguards.

Isolated demyelinating syndrome (IDS), or first demyelinating event, is defined as an acute neurological presentation associated with central nervous system (CNS) demyelination. It may occur as a monophasic episode or represent the initial manifestation of a recurrent demyelinating disorder. IDS is classified as either monofocal -affecting the brain, brainstem, cerebellum, optic nerve, or spinal cord-or multifocal, when a combination of these regions is involved. Management is primarily directed toward optimizing functional recovery. Additionally, in patients who fulfill diagnostic criteria for an underlying demyelinating disease, the initiation of immunosuppressive therapy should be considered.

Dystonia is one of the most common hyperkinetic movement disorders in childhood and represents a significant cause of disability and impaired quality of life. Early recognition remains challenging due to its marked clinical and etiological heterogeneity and its frequent misdiagnosis as other movement disorders or functional neurological conditions. In 2025, an updated international consensus on the definition and classification of dystonia was published, maintaining a two-axis framework that integrates clinical characteristics (Axis I) and etiological and pathophysiological mechanisms (Axis II). In pediatric patients, dystonia may arise from genetic, acquired, structural, or functional causes, highlighting the importance of identifying treatable conditions such as dopa-responsive dystonia, Wilson disease, and GLUT-1 deficiency. Diagnostic evaluation requires a systematic approach, including targeted laboratory studies for reversible etiologies, brain magnetic resonance imaging, and genetic testing in selected cases. Management is individualized and may involve pharmacological therapies, focal treatment with botulinum toxin, and surgical options such as deep brain stimulation for refractory dystonia. Status dystonicus represents the most severe manifestation and constitutes a medical emergency requiring prompt recognition and intervention. These recommendations provide a practical and updated framework for the diagnosis and management of pediatric dystonia.

The first 1000 days postconception are the critical and sensitive period for neurodevelopment, with the greatest exposure and vulnerability to environmental factors with short- and long-term neurobehavioral impact. Ninety percent of the brain is built in the first three years of life through the interaction of genetic and environmental factors. Genetic counseling is erroneously prioritized over environmental counseling, which is less costly and has a greater impact on the population. This paper analyzes the role of some environmental risk and protective factors that influence neurodevelopment and mental health, as inputs for promoting public policies to protect early childhood, especially in vulnerable populations.

This study aimed to establish the linguistic validity of content on a scale based on DSM-5 criteria to evaluate symptoms of Attention Deficit Hyperactivity Disorder (ADHD) in children and adolescents, aimed at parents and teachers. It is a psychometric instrumental research, which included the participation of nine experts in ADHD and a pilot test with fifteen parents and teachers, in order to adapt the instrument to the sociocultural characteristics of the Spanish-speaking population. The methodology used is rigorous and appropriate for the proposed objective. The V-Aiken coefficient was used to estimate the validity of content, considering values ≥ 0.80 as acceptable, and was complemented with a qualitative analysis of the expert comments and a pilot test with parents and teachers in order to evaluate the understanding and contextual adequacy of the items. Most of the items (72.2%) showed high inter-evaluative concordance, some required semantic and contextual adjustments. The conclusions support the validity of the scale content and its potential usefulness in future psychometric evaluations.

Hypoxic-ischemic encephalopathy results from perinatal asphyxia and manifests through severe metabolic acidosis or neonatal depression requiring resuscitation. Since this remains a significant cause of mortality and neurodevelopmental disorders such as cerebral palsy and epilepsy, a multimodal evaluation integrating clinical, biochemical, neurophysiological, and neuroimaging parameters is required to determine the prognosis. In terms of clinical assessment, various scales can be applied, these are especially helpful in predicting the risk of adverse outcomes. The gold standard treatment for moderate and severe cases is therapeutic hypothermia, which must be initiated within the first 6 hours of life to significantly reduce death and neurodevelopmental impairments. However, this treatment is not recommended for infants under 34 weeks, as the risks outweigh the neuroprotective benefits in this population. Seizure management is paramount, as seizures represent an independent factor for poor prognosis. Regarding diagnostic imaging, magnetic resonance imaging performed between the fourth and fifth day of life constitutes a key tool. Deep gray matter involvement is the most robust marker of an adverse prognosis. Long-term prognosis must include prolonged followup to detect cognitive deficits, even if early evaluations were normal. Therefore, the systematic inclusion of these patients in follow-up and early intervention programs that promote brain plasticity is recommended, along with close communication with families for shared decision-making.

Genetic epilepsies presenting in the neonatal period and early infancy require time-critical, mechanism-aware decisions. Amplitude-integrated EEG (aEEG) provides continuous bedside screening in the NICU, but its yield improves when seizures are confirmed and characterized with multichannel conventional EEG (referred to here as rEEG; the term "continuous EEG or cEEG" is reserved for prolonged monitoring). In KCNQ2/KCNQ3 and SCN2A channelopathies, a distinctive ictal aEEG sequence-brief initial attenuation/decrease, rapid rise, and postictal depression-correlates with reproducible ictal features on rEEG/cEEG. Recognizing this signature may prompt rapid genetic testing and, when clinically appropriate, earlier targeted therapy with sodium-channel blockers, reducing prolonged ineffective polytherapy. SCN8A shows broader electroclinical heterogeneity without a single signature; however, normal brain MRI combined with high early seizure burden (often bilateral tonic-clonic seizures) and a progressively abnormal EEG should raise suspicion. This narrative review provides a pragmatic framework for SCN2A, SCN8A, KCNQ2, and KCNQ3, integrates the phenotype spectrum (including self-limited forms with potentially normal EEG), highlights safety considerations (including SUDEP), and briefly summarizes emerging precision-therapy under clinical investigation.

Dystonia is a movement disorder characterized by abnormal, sustained or intermittent movements and/or postures, which are often exacerbated by voluntary action and associated with overflow phenomena. The current classification is structured along two axes: a clinical axis, which considers features such as age at onset and pattern of distribution, and an etiological axis, which integrates genetic, acquired and anatomical causes. Genetic dystonias constitute a broad and heterogeneous group, frequently beginning in childhood or adolescence, and may present as isolated, combined or complex forms. Among the most relevant entities are dystonias associated with TOR1A, THAP1, GCH1, SGCE and KMT2B, each with distinctive clinical, genetic and therapeutic characteristics. Early recognition of these conditions is essential, given its impact on etiological diagnosis, genetic counseling and therapeutic decision-making, including the use of targeted treatments and advanced therapies such as deep brain stimulation. Ongoing advances in molecular genetics have expanded the known phenotypic spectrum, underscoring the importance of an integrated diagnostic approach to optimize the management and prognosis of patients with dystonia.

Metabolic diseases caused by transporter dysfunction are inherited disorders resulting from defects in membrane transport proteins. These proteins allow the passage of nutrients, ions, and other molecules across cell membranes. If there is a malfunction, substances do not enter the cell, are not reabsorbed, or are not distributed correctly, even if present in normal amounts. Intracellular metabolism is normal; the problem lies in the movement of the molecule. These diseases are caused by mutations in genes that encode transporters and impair intestinal absorption (Menkes disease), renal reabsorption (cystinuria), or the passage of substances to specific tissues such as the brain (type I glucose transporter deficiency), muscle (mitochondrial carnitine transporter deficiency), or liver (Wilson disease). They are generally autosomal recessive inherited diseases with highly varied clinical manifestations, including seizures, developmental delay, intellectual disability, autism, and movement disorders. In the text we review some of the most common diseases of interest to neuropediatricians. Many of these diseases have early biochemical or molecular diagnosis and therapeutic options that improve the prognosis.

BackgroundThe Brain Trauma Foundation's guidelines specifically highlight the need to determine optimal triage destination for moderate traumatic brain injury (modTBI) patients, particularly in rural settings where Level I trauma centers may be geographically distant.MethodsRetrospective cohort analysis utilizing sequential adult patients (≥18 years) with modTBI, defined by a field Glasgow Coma Scale (GCS) score of 9-13, admitted to two Level-1 trauma centers (2017-2024). Patients were divided into two groups based on initial triage: initial assessment at regional centers with subsequent transfer (n = 60) vs direct admission to Level I trauma centers (n = 148). Outcomes included hospital discharge disposition, hospital interventions, complications, and functional outcomes as measured by the Glasgow Outcome Scale-Extended (GOSE) at six months. Statistical analysis involved chi-square and Mann-Whitney U tests, with sensitivity analyses to address missing six-month follow-up data.ResultsBaseline injury severity and imaging findings were comparable between groups. The Transfer group had fewer surgical interventions (26.7% vs 52.7%, P < .002). There were no significant differences in hospital mortality (21.7% vs 14.2%, P = 0.27), home discharge (28.3% vs 34.5%, P = 0.49), or hospital complications (23.3% vs 29.7%, P = 0.40). At six months, Favorable outcomes (GOSE 5-8) were comparable between groups (65.9% vs 74.8%, P = 0.38), as were six-month mortality rates (16.7.% vs 8.8%, P = 0.16). Sensitivity analyses remained robust under most missing data assumptions.DiscussionInitial triage location did not significantly affect discharge disposition, complication rates, or six-month functional outcomes in modTBI patients. Hub-and-spoke triage appears safe for hemodynamically stable modTBI in rural trauma systems with established transfer networks.