Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Linguistic Markers of Subtle Cognitive Impairment in Connected Speech: A Systematic Review.

Purpose: This systematic review covers the current stage of research on subtle cognitive impairment with connected speech. It aims at surveying the linguistic features in use to single out those that can best identify patients with mild neurocognitive disorders (mNCDs), whose cognitive changes remain underdiagnosed.

Method: We followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and proposed a full definition of features for the analysis of speech features.

ENIGMA-Meditation: Worldwide consortium for neuroscientific investigations of meditation practices.

Meditation is a family of ancient and contemporary contemplative mind-body practices that can modulate psychological processes, awareness, and mental states. Over the last 40 years, clinical science has manualised meditation practices and designed various meditation interventions (MIs), that have shown therapeutic efficacy for disorders including depression, pain, addiction, and anxiety. Over the past decade, neuroimaging has examined the neuroscientific basis of meditation practices, effects, states, and outcomes for clinical and non-clinical populations.

Universally Consistent K-Sample Tests via Dependence Measures.

The K-sample testing problem involves determining whether K groups of data points are each drawn from the same distribution. Analysis of variance is arguably the most classical method to test mean differences, along with several recent methods to test distributional differences. In this paper, we demonstrate the existence of a transformation that allows K-sample testing to be carried out using any dependence measure.

Exploring the Embodied Mind: Functional Connectome Fingerprinting of Meditation Expertise.

Background: Short mindfulness-based interventions have gained traction in research due to their positive impact on well-being, cognition, and clinical symptoms across various settings. However, these short-term trainings are viewed as preliminary steps within a more extensive transformative path, presumably leading to long-lasting trait changes. Despite this, little is still known about the brain correlates of these meditation traits.

Multisensory integration and motor resonance in the primary motor cortex.

Humans are endowed with a motor system that resonates to speech sounds, but whether concurrent visual information from lip movements can improve speech perception at a motor level through multisensory integration mechanisms remains unknown. Therefore, the aim of the study was to explore behavioral and neurophysiological correlates of multisensory influences on motor resonance in speech perception. Motor-evoked potentials (MEPs), by single pulse transcranial magnetic stimulation (TMS) applied over the left lip muscle (orbicularis oris) representation in the primary motor cortex, were recorded in healthy participants during the presentation of syllables in unimodal (visual or auditory) or multisensory (audio-visual) congruent or incongruent conditions.

An approach to the detection of pain from autonomic and cortical correlates.

Objective: To assess the value of combining brain and autonomic measures to discriminate the subjective perception of pain from other sensory-cognitive activations.

Methods: 20 healthy individuals received 2 types of tonic painful stimulation delivered to the hand: electrical stimuli and immersion in 10 Celsius degree (°C) water, which were contrasted with non-painful immersion in 15 °C water, and stressful cognitive testing. High-density electroencephalography (EEG) and autonomic measures (pupillary, electrodermal and cardiovascular) were continuously recorded, and the accuracy of pain detection based on combinations of electrophysiological features was assessed using machine learning procedures.

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.

Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants.

Peripersonal space: why so last-second?

A vast range of neurophysiological, neuropsychological and behavioural results in monkeys and humans have shown that the immediate surroundings of the body, also known as peripersonal space (PPS), are processed in a unique way. Three roles have been ascribed to PPS mechanisms: to react to threats, to avoid obstacles and to act on objects. However, in many circumstances, one does not wait for objects or agents to enter PPS to plan these behaviours.

The timing of sleep spindles is modulated by the respiratory cycle in humans.

Objective: Coupling of sleep spindles with cortical slow waves and hippocampus sharp-waves ripples is crucial for sleep-related memory consolidation. Recent literature evidenced that nasal respiration modulates neural activity in large-scale brain networks. In rodents, this respiratory drive strongly varies according to vigilance states.

Adherence to clinical practice guidelines for using electroconvulsive therapy in elderly depressive patients.

Objectives: Electroconvulsive therapy (ECT) is one of the most effective treatments in mood disorders, mainly in major depressive episode (MDE) in the context of either unipolar (MDD) or bipolar disorder (BD). However, ECT remains a neglected and underused treatment. Older people are at high risk patients for the development of adverse drug reactions.

Visual perceptual learning is enhanced by training in the illusory far space.

Visual objects in the peripersonal space (PPS) are perceived faster than farther ones appearing in the extrapersonal space (EPS). This shows preferential processing for visual stimuli near our body. Such an advantage should favour visual perceptual learning occurring near, as compared with far from observers, but opposite evidence has been recently provided from online testing protocols, showing larger perceptual learning in the far space.

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in .

Adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT) are two structurally related enzymes involved in purine recycling in humans. Inherited mutations that suppress HGPRT activity are associated with Lesch-Nyhan disease (LND), a rare X-linked metabolic and neurological disorder in children, characterized by hyperuricemia, dystonia, and compulsive self-injury. To date, no treatment is available for these neurological defects and no animal model recapitulates all symptoms of LND patients.

Reduced processing of afforded actions while observing mental content as ongoing mental phenomena.

While consciousness is typically considered equivalent to mental contents, certain meditation practices-including open monitoring (OM)-are said to enable a unique conscious state where meditators can experience mental content from a de-reified perspective as "ongoing phenomena." Phenomenologically, such a state is considered as reduction of intentionality, the mental act upon mental content. We hypothesised that this de-reified state would be characterised by reduced mental actional processing of affording objects.

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ().

Background And Objectives: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials.

Methods: As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic variant and (2) ID and/or autism spectrum disorder.

Impact of confrontation to patient suffering and death on wellbeing and burnout in professionals: a cross-sectional study.

Background: Palliative care and oncology generate a risk of burnout and psychological distress in professionals. The purpose of this study is to identify both psychopathological and positive factors related to mental health at work. It aims (i) to explore the extent to which these professionals are confronted with suffering, illness, and death; and to explore the prevalence of psychological distress and/or burnout, (ii) to identify potential determinants of burnout and psychological wellbeing at work, (iii) to develop an integrative model of mental health; and to identify frequency and impact of confrontations with death, and (iv) to identify profiles of professionals are at risk of developing a mental health disorder or, conversely, characterized by wellbeing.

Sleepiness should be reinvestigated through the lens of clinical neurophysiology: A mixed expertal and big-data Natural Language Processing approach.

Historically, the field of sleep medicine has revolved around electrophysiological tools. However, the use of these tools as a neurophysiological method of investigation seems to be underrepresented today, from both international recommendations and sleep centers, in contrast to behavioral and psychometric tools. The aim of this article is to combine a data-driven approach and neurophysiological and sleep medicine expertise to confirm or refute the hypothesis that neurophysiology has declined in favor of behavioral or self-reported dimensions in sleep medicine for the investigation of sleepiness, despite the use of electrophysiological tools.

Objective evaluation of excessive daytime sleepiness.

Excessive daytime sleepiness (EDS) is multifactorial. It combines, among other things, an excessive propensity to fall asleep ("physiological sleepiness") and a continuous non-imperative sleepiness (or drowsiness/hypo-arousal) leading to difficulties remaining awake and maintaining sustained attention and vigilance over the long term ("manifest sleepiness"). There is no stand-alone biological measure of EDS.

From physiological awakening to pathological sleep inertia: Neurophysiological and behavioural characteristics of the sleep-to-wake transition.

Sleep inertia refers to the transient physiological state of hypoarousal upon awakening, associated with various degrees of impaired neurobehavioral performance, confusion, a desire to return to sleep and often a negative emotional state. Scalp and intracranial electro-encephalography as well as functional imaging studies have provided evidence that the sleep inertia phenomenon is underpinned by an heterogenous cerebral state mixing local sleep and local wake patterns of activity, at the neuronal and network levels. Sleep inertia is modulated by homeostasis and circadian processes, sleep stage upon awakening, and individual factors; this translates into a huge variability in its intensity even under physiological conditions.

Human brain representations of internally generated outcomes of approximate calculation revealed by ultra-high-field brain imaging.

Much of human culture's advanced technology owes its existence to the ability to mentally manipulate quantities. Neuroscience has described the brain regions overall recruited by numerical tasks and the neuronal codes representing individual quantities during perceptual tasks. Nevertheless, it remains unknown how quantity representations are combined or transformed during mental computations and how specific quantities are coded in the brain when generated as the result of internal computations rather than evoked by a stimulus.

Twenty-four-hour rhythmicities in disorders of consciousness are associated with a favourable outcome.

Fluctuations of consciousness and their rhythmicities have been rarely studied in patients with a disorder of consciousness after acute brain injuries. 24-h assessment of brain (EEG), behaviour (eye-opening), and circadian (clock-controlled hormones secretion from urine) functions was performed in acute brain-injured patients. The distribution, long-term predictability, and rhythmicity (circadian/ultradian) of various EEG features were compared with the initial clinical status, the functional outcome, and the circadian rhythmicities of behaviour and clock-controlled hormones.

The role of loudness in vocal intimidation.

Across many species, a major function of vocal communication is to convey formidability, with low voice frequencies traditionally considered the main vehicle for projecting large size and aggression. Vocal loudness is often ignored, yet it might explain some puzzling exceptions to this frequency code. Here we demonstrate, through acoustic analyses of over 3,000 human vocalizations and four perceptual experiments, that vocalizers produce low frequencies when attempting to sound large, but loudness is prioritized for displays of strength and aggression.