A comparative analysis of depression screening tools in multiple sclerosis: Implications for diagnosis and prevalence.

Background: The BDI-II is still widely used to assess the importance of depressive symptoms in persons with MS (PwMS), despite recent recommendations to use a reduced and adapted form of this screening tool (BDI-FS).

Method: We compared the prevalence of depressive symptoms in 329 PwMS which completed both the BDI-II and the BDI-FS and test the agreement between both screening tools.

Results: The BDI-FS shows a lower overall prevalence of depression but not for severe cases.

Distinguishing the role of positivity bias, cognitive impairment and emotional reactivity in the deontological preference in multiple sclerosis during moral dilemmas: a social cognition study protocol.

Background: Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease of the central nervous system characterized by a broad and unpredictable range of symptoms, including cognitive and sociocognitive dysfunction. Among these social-cognitive functions, moral judgment has been explored in persons with MS (PwMS) using moral dilemmas, where participants must decide whether to sacrifice one person to save a greater number. Opting for such a sacrifice reflects utilitarian reasoning (sacrificing one for the benefit of many is deemed acceptable), while refusing reflects deontological reasoning (such sacrifice is considered morally wrong).

Cognitive-motor dual task to reveal gait impairments in multiple sclerosis patients at an early stage: A systematic review.

Background: Multiple sclerosis can cause locomotor and cognitive impairments even at lower levels of disability, which can impact daily life. The cognitive-motor dual task is commonly used to assess everyday locomotion. Thus, this study aimed to examine the effect of cognitive-motor dual tasks on gait parameters among patients with multiple sclerosis in the early disease stages and to determine whether dual tasks could be used as a clinical test to detect locomotion impairments.

Relationship between emotion recognition and cognition in multiple sclerosis: a meta-analysis protocol.

Introduction: Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease of the central nervous system characterised by a broad and unpredictable range of symptoms, including cognitive and socio-cognitive dysfunction. Alongside the well-known deficits in information processing speed (IPS), executive functioning and episodic memory, recent evidence also highlighted socio-cognitive impairments in MS, such as emotion-recognition deficits. Recently, several studies investigated the association between emotion-recognition and cognitive impairment to assess whether social cognition is parallel to (or even dependent on) general cognitive dysfunction.

Improving cognition in people with multiple sclerosis: study protocol for a multiarm, randomised, blinded trial of multidomain cognitive rehabilitation using a video-serious game (E-SEP cognition).

Introduction: Multiple sclerosis (MS) is a prevalent neurological disease characterised by disseminated areas of demyelination and atrophy within the central nervous system, inducing cognitive disorders in 45%-65% of persons with MS (PwMS). Neuropsychology and neuroimaging studies provide evidence of the effectiveness of cognitive rehabilitation interventions, including memory and attention. Recently, serious game therapy (SGT) has been used in rehabilitation to improve cognitive processing speed.

Assessing cognitive changes in multiple sclerosis: criteria for a reliable decision.

Introduction: Quantifying a significant cognitive change on a neuropsychological battery is essential to assess patients' decline or recovery and offer appropriate care. The reliability of change indices is particularly important in multiple sclerosis (MS), as the course of cognitive impairment is quite unpredictable, due at least in part to substantial interindividual variability. The main objective of this study was to compare six different methods for assessing cognitive change in an MS sample: the SD method, two reliable change indices, two standardized regression-based methods (SRB), and the generalized regression-based method (GSRB).

Corpus callosum damage to account for cognitive, affective, and social-cognitive dysfunctions in multiple sclerosis: A model of callosal disconnection syndrome?

The corpus callosum (CC) is the major commissure interconnecting the two hemispheres and is particularly affected in multiple sclerosis (MS). In the present review, we aimed to investigate the role played by callosal damages in the pathogenesis of MS-related dysfunctions and examine whether a model of callosal disconnection syndrome is a valid model for MS. For this purpose, we will first review structural and functional evidence of callosal pathology in MS.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening.

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exome sequencing (WES) has benefited considerably this molecular diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed to develop a method (CoDE-seq) enabling the accurate detection of both CNVs and point mutations in one step.

EVASEP: A Noninterventional Study Describing the Perception of Neurologists, Patients, and Caregivers on Caregivers' Role in the Support of Patients Suffering from Multiple Sclerosis Treated with Subcutaneous Interferon Beta 1a.

Background. The perception of the role of caregivers for people with multiple sclerosis (MS) is important but poorly studied, particularly in patients with low levels of disability. Objectives.

Treatment discontinuation in multiple sclerosis: The French Web-based survey ALLIANCE.

Background: In multiple sclerosis (MS), treatment discontinuation leads to a higher risk of relapse, poorer quality of life and greater economic impact.

Objective: The objective of this work is to evaluate treatment discontinuation in MS, the reasons for this and the reasons for treatment resumption.

Methods: A French national Web-based survey was carried out between May and August 2011.

Decrease of mutual information in brain electrical activity of patients with relapsing-remitting multiple sclerosis.

The disturbance of cortical communication has been hypothesized as an important factor in the appearance of cognitive impairment in (MS). Cortical communication is quantified here in control subjects and patients with relapsing-remitting multiple sclerosis (RRMS) on the basis of mean coherence in the δ, θ, α, β and γ bands and using mutual information computed between pairs of bipolar EEG signals recorded during resting condition. Each patient received also a cognitive assessment using a battery of neuropsychological tests specific to cognitive deficits in MS.

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.

Interstitial 18q deletions encompassing band 18q12.3 define the del(18)(q12.2q21.