Bangur Institute of Neurosciences

Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders. A total of 184 patients with suspected rare neurological disorders were enrolled in this study. Detailed demographic and clinical data were collected, and WES was performed to identify pathogenic and likely pathogenic variants. Variants were annotated and interpreted using standard guidelines, and inheritance patterns were determined. The cohort showed a slight male predominance, with the majority of cases presenting in early childhood (mean age at onset: 29.62 ± 27.69 months). The most common clinical features included developmental delay (82.06

Background: Adequate sedation during awake flexible fiberoptic intubation (AFOI), a key step of success, has been traditionally done by several agents. However, each agent has its own side effects. Dexmedetomidine, an α-2 agonist, has also been experimented with, owing to its excellent sedative properties, though it also has several undesirable effects, including hemodynamic alterations. To avoid the unnecessary side effects of intravenous (IV) dexmedetomidine, the IV route has proved to be promising, although adequate studies are lacking. Aims and Objectives: This study was conducted to assess the efficacy, along with the hemodynamic changes, of intranasal (IN) dexmedetomidine while performing AFOI. Materials and Methods: Fifty-six patients of either sex, aged 20–60 years, with unstable cervical spine posted for cervical fixation were randomly allocated into two groups, Group D and Group C, and were atomized preoperatively with IN dexmedetomidine (2 μg/kg) and an equivalent volume of normal saline, respectively, about 40 min before the AFOI procedure. Ease of intubation, number of attempts, and time to intubate were measured along with patient responsiveness, sedation, and hemodynamic changes. Patient awareness was measured on the first post-operative day. Results: The observer assessment alertness/sedation score, comfort score, and intubation score were all found to be significantly lower in Group D in comparison to Group C. The majority of patients in Group D reported having no awareness during the procedure and also maintained a better hemodynamic profile throughout. Conclusion: Atomized IN dexmedetomidine, providing good intubation conditions, procedural sedation, and patient satisfaction without significant side-effects, can be effectively used during AFOI in patients with unstable cervical spine.

Autism spectrum disorder (ASD) is highly heritable, and autism-related traits extend beyond diagnostic thresholds into the broader autism phenotype (BAP), a set of subclinical social-communication, cognitive, sensory, and personality-related characteristics observed in some relatives of autistic individuals and in the general population. The BAP literature is heterogeneous: many family and twin studies report elevated trait levels among first-degree relatives, whereas others report null, domain-specific, or subgroup-specific effects. We therefore frame BAP as a probabilistic marker of shared liability rather than a universal familial profile or a missed diagnosis. Here, we integrate behavioral, cognitive, genetic, and neuroimaging evidence and propose, rather than establish, a network-level model in which atypical default mode network (DMN) organization and altered coupling with salience and central executive networks may help explain links among sensory integration, executive rigidity, and socio-affective/mentalizing traits. We also operationalize brain entropy as a family of neuroimaging metrics that quantify the irregularity, variability, or complexity of neural signals (e.g., sample entropy, multiscale entropy, wavelet-based regularity, and Lempel-Ziv complexity). Entropy may provide a testable bridge between neural dynamics and BAP-related behavioral heterogeneity; however, direct evidence in BAP remains limited. We conclude by outlining testable predictions, limitations, and future directions for multimodal, developmentally informed studies.