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.

Corticolimbic structures activation during preparation and execution of respiratory manoeuvres in voluntary olfactory sampling: An intracranial EEG study.

Volitional respiratory manoeuvres such as sniffing and apnoea play a key role in the active olfactory exploration of the environment. Their impairment by neurodegenerative processes could thus impair olfactory abilities with the ensuing impact on quality of life. Functional brain imaging studies have identified brain networks engaged in sniffing and voluntary apnoea, comprising the primary motor and somatosensory cortices, the insula, the anterior cingulate cortex and the amygdala.

Catch-Up Saccades in Vestibulo-Ocular Reflex Deficit: Contribution of Visual Information?

Objectives: Catch-up saccades help to compensate for loss of gaze stabilization during rapid head rotation in case of vestibular deficit. While overt saccades observed after head rotation are obviously visually guided, some of these catch-up saccades occur with shorter latency while the head is still moving, anticipating the needed final eye position. These covert saccades seem to be generated based on the integration of multisensory inputs.

Prevalence and characteristics of participants in 2024: findings from a general population survey in France.

Background: Dry January is a one-month alcohol abstinence challenge for the general population running since 2013 in the United Kingdom, and 2020 in France. Dry January has gained increasing popularity among the public, but studies assessing the individual characteristics associated with awareness and participation remain sparse.

Methods: Using quota sampling, a representative sample of 5,000 French adults completed an online cross-sectional survey between 8 and 17th January 2024.

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, severe growth retardation and bone abnormalities. It is caused by pathogenic variants in the RNU4ATAC gene. Its transcript, the small nuclear RNA U4atac, is involved in the excision of ~850 minor introns.

Characterization of dynamic compliance of the respiratory system in healthy anesthetized dogs.

Introduction: In clinical practice, evaluating dynamic compliance of the respiratory system (C) could provide valuable insights into respiratory mechanics. Reference values of C based on body weight have been reported, but various factors may affect them and the evidence is scanty. This study aimed to establish a reference interval for C and identify associated variables.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

The role of alpha oscillations in resisting distraction.

The role of alpha oscillations (8-13 Hz) in suppressing distractors is extensively debated. One debate concerns whether alpha oscillations suppress anticipated visual distractors through increased power. Whereas some studies suggest that alpha oscillations support distractor suppression, others do not.

Extending Tactile Space With Handheld Tools: A Re-Analysis and Review.

Tools can extend the sense of touch beyond the body, allowing the user to extract sensory information about distal objects in their environment. Though research on this topic has trickled in over the last few decades, little is known about the neurocomputational mechanisms of extended touch. In 2016, along with our late collaborator Vincent Hayward, we began a series of studies that attempted to fill this gap.

Effects of multiple transcranial magnetic stimulation sessions on pain relief in patients with chronic neuropathic pain: A French cohort study in real-world clinical practice.

Background: Current clinical trials indicate that repetitive transcranial magnetic stimulation (rTMS) is effective in reducing drug-resistant neuropathic pain (NP). However, there is a lack of studies evaluating the long-term feasibility and clinical efficacy of rTMS in large patient cohorts in real-world conditions.

Methods: In this retrospective cohort study, we analysed 12 years of clinical data to assess the long-term analgesic effects of 20 Hz rTMS over the primary motor cortex in patients with NP.

Shaping tomorrow: how the STEP training course pioneered noninvasive brain stimulation training for psychiatry in France.

Over the past three decades, non-invasive brain stimulation (NIBS) techniques have gained worldwide attention and demonstrated therapeutic potential in various medical fields, particularly psychiatry. The emergence of these novel techniques has led to an increased need for robust training programs to provide practitioners, whether clinicians or scientists, with the necessary skills and knowledge. In response, a comprehensive training curriculum for NIBS in psychiatry has been developed in France.

Activity in Occipito-Temporal Cortex Is Involved in Tool-Use Planning and Contributes to Tool-Related Semantic Neural Representations.

Tool use and language are highly refined human abilities which may show neural commonalities due to their potential reciprocal interaction during evolution. Recent work provided evidence for shared neural resources between tool use and syntax. However, whether activity within the tool-use network also contributes to semantic neural representations of tool nouns remains untested.

Differential relationship between meditation methods and psychotic-like and mystical experiences.

Much work has investigated beneficial effects of mindfulness-based meditation methods, but less work has investigated potential risks and differences across meditation methods. We addressed this in a large pre-registered online survey including 613 mediators where we correlated participants' experience with fifty meditation techniques to psychotic-like experiences (PLEs) and mystical experiences. We found a positive correlation for both PLEs and mystical experiences with techniques aiming at reducing phenomenological content ('null-directed', NDM) or classified as non-dual or less embodied.

[Therapeutic management adults with epilepsy].

THERAPEUTIC MANAGEMENT OF ADULTS WITH EPILEPSY. With the development of numerous antiseizure medications, therapeutic options for the management of patients suffering from epilepsy have greatly diversified. This diversification of the therapeutic arsenal means that treatment can now be better adapted to each individual patient.

Age dependent deficits in speech recognition in quiet and noise are reflected in MGB activity and cochlear onset coding.

The slowing and reduction of auditory responses in the brain are recognized side effects of increased pure tone thresholds, impaired speech recognition, and aging. However, it remains controversial whether central slowing is primarily linked to brain processes as atrophy, or is also associated with the slowing of temporal neural processing from the periphery. Here we analyzed electroencephalogram (EEG) responses that most likely reflect medial geniculate body (MGB) responses to passive listening of phonemes in 80 subjects ranging in age from 18 to 76 years, in whom the peripheral auditory responses had been analyzed in detail (Schirmer et al.

Decoding meditation mechanisms underlying brain preservation and psycho-affective health in older expert meditators and older meditation-naive participants.

Meditation is a mental training approach that can improve mental health and well-being in aging. Yet the underlying mechanisms remain unknown. The Medit-Ageing model stipulates that three mechanisms - attentional, constructive, and deconstructive - upregulate positive psycho-affective factors and downregulate negative ones.

Effect of an 18-Month Meditation Training on Telomeres in Older Adults: A Secondary Analysis of the Age-Well Randomized Controlled Trial.

Background: Shorter telomeres are associated with increased risk of cognitive decline and age-related diseases. Developing interventions to promote healthy aging by preserving telomere integrity is of paramount importance. Here, we investigated the effect of an 18-month meditation intervention on telomere length (TL) measures in older people without cognitive impairment.

National impact of a constraining regulatory framework on pregabalin dispensations in France, 2020-2022.

Background: Pregabalin is a drug approved for neuropathic pain, epilepsy and general anxiety disorder. However, pregabalin is also an increasing cause of diversion and misuse, and, for this reason, the French health authorities have decided in 2021 to classify it as a narcotic drug, requiring secured prescription pads. Our study aimed to evaluate the impact of this measure on pregabalin dispensation patterns.

An Overview of Neurophenomenological Approaches to Meditation and their Relevance to Clinical Research.

There is a renewed interest in taking phenomenology seriously in consciousness research, contemporary psychiatry, and neurocomputation. The neurophenomenology research program, pioneered by Varela (1996), rigorously examines subjective experience using first-person methodologies, inspired by phenomenology and contemplative practices. This review explores recent advancements in neurophenomenological approaches, particularly their application to meditation practices and potential clinical research translations.

WONOEP appraisal: Targeted therapy development for early onset epilepsies.

The early onset epilepsies encompass a heterogeneous group of disorders, some of which result in drug-resistant seizures, developmental delay, psychiatric comorbidities, and sudden death. Advancement in the widespread use of targeted gene panels as well as genome and exome sequencing has facilitated the identification of different causative genes in a subset of these patients. The ability to recognize the genetic basis of early onset epilepsies continues to improve, with de novo coding variants accounting for most of the genetic etiologies identified.

Interconnection between adolescents' and family members' sleep.

Deficient sleep has been linked to a broad range of physical, cognitive and mental health impacts, in particular during adolescence. It is thus essential to understand its underlying mechanisms, including family factors. The goal of our study was to assess through combined subjective and objective assessments, how family members' daily variations in sleep are interconnected, between parents and siblings of adolescents.