Cognitive and Neurobiological Correlates for Switching/Inhibition Moderate the Relations Between Word Reading and Reading Comprehension in Hebrew-Speaking Children: An fMRI Study.

The expanded Simple View of Reading model suggests language processing and word reading as contributors to reading comprehension and points at the participation of executive functions as supporting these abilities. Switching and inhibition are both executive functions (EF) contributing to reading, especially in languages with two writing systems-shallow and deep, such as Hebrew. Here, we aimed to determine the specific role of switching/inhibition both cognitively and neurobiologically in the Simple View of Reading model among 49 eight- to 12-year-old Hebrew-speaking children.

Parent-child couples display shared neural fingerprints while listening to stories.

Neural fingerprinting is a method to identify individuals from a group of people. Here, we established a new connectome-based identification model and used diffusion maps to show that biological parent-child couples share functional connectivity patterns while listening to stories. These shared fingerprints enabled the identification of children and their biological parents from a group of parents and children.

Altered white matter organization and its correlations with executive functioning among adolescents with epilepsy.

Deficits in executive functions (EF) are a common comorbidity among adolescents with epilepsy. EF deficits were previously correlated with altered connectivity of the fronto-parietal and cingulo-opercular neural networks. The current study investigated white matter integrity in adolescents with epilepsy (n = 29) relative to healthy controls (n = 19).

Optimizing Electrode Configurations for Wearable EEG Seizure Detection Using Machine Learning.

Epilepsy, a prevalent neurological disorder, profoundly affects patients' quality of life due to the unpredictable nature of seizures. The development of a reliable and user-friendly wearable EEG system capable of detecting and predicting seizures has the potential to revolutionize epilepsy care. However, optimizing electrode configurations for such systems, which is crucial for balancing accuracy and practicality, remains to be explored.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.

Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.

Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of their workup during the first four months of life.

Focal Epilepsy in Individuals with Laron Syndrome.

Objective: The aim of the study was to describe focal epilepsy in patients with Laron syndrome (LS).

Methods: Data were retrieved from medical records of a single-center cohort of 75 patients with LS.

Results: We describe for the first time 4 patients with concomitant focal epilepsy and LS.

Intranasal dexmedetomidine vs oral triclofos sodium for sedation of children with autism undergoing electroencephalograms.

Background: Sedation may be necessary for performing electroencephalograms in children with autistic spectrum disorder, however, our sedation success rate using triclofos sodium (TFS) is limited. Intra-nasal dexmedetomidine (IN-DEX) may be a superior sedative for these children.

Objective: Compare IN-DEX with TFS for sedation efficacy, resistance to drug delivery and adverse events in children with autism undergoing an electroencephalogram.

Functional MRI research involving healthy children: Ethics, safety and recommended procedures.

Aim: This specific review aims to expose clinicians, researchers and administrators in hospitals to the importance, procedures and safety of fMRI studies to promote the increased utilisation of such studies in different geographical places worldwide. The child's brain is developing rapidly, both structurally and functionally. These functional changes can only be detected using functional scans generated from an MRI machine and referred to as a functional MRI (fMRI).

Reading in children with drug-resistant epilepsy was related to functional connectivity in cognitive control regions.

Aim: This study aimed to define whether individuals with drug-resistant focal epilepsy also used regions related to cognitive control to facilitate reading.

Methods: We focused on patients with drug-resistant focal epilepsy in 2011-2014, who were aged 8-20 years and were being treated at the Cincinnati Children's Hospital, USA. They performed a verb generation functional magnetic resonance imaging task known to involve language and cognitive control, as well as a formal reading assessment.

Triclofos Sodium for Pediatric Sedation in Non-Painful Neurodiagnostic Studies.

Aim: Triclofos sodium (TFS) has been used for many years in children as a sedative for painless medical procedures. It is physiologically and pharmacologically similar to chloral hydrate, which has been censured for use in children with neurocognitive disorders. The aim of this study was to investigate the safety and efficacy of TFS sedation in a pediatric population with a high rate of neurocognitive disability.

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Background: Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder with a poor developmental prognosis. Although it has been associated with mutations in a number of genes, the fact that there is a large proportion of patients who remain undiagnosed suggests that there are many more still-unknown genetic causes of EOEE. Achieving a genetic diagnosis is important for understanding the biological basis of the disease, with its implications for treatment and family planning.

Gut Transit in Duchenne Muscular Dystrophy Is Not Impaired: A Study Utilizing Wireless Motility Capsules.

We examined gut transit in 7 young adults (18-24 years of age) with Duchenne muscular dystrophy using wireless motility capsules. Total and segmental gut transit times were normal in essentially all patients. Our study using a validated tool suggests normal transit constipation as the pathophysiologic basis for constipation in Duchenne muscular dystrophy.

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis).

Constipation in Duchenne Muscular Dystrophy: Prevalence, Diagnosis, and Treatment.

Objectives: To determine the prevalence and clinical characteristics of constipation among patients with Duchenne muscular dystrophy (DMD).

Study Design: This cross-sectional prospective study included 120 patients (age range 5-30 years old) with an established diagnosis of DMD. Participants filled out the constipation section of a validated Questionnaire on Pediatric Gastrointestinal Symptoms based on Rome-III Criteria (QPGS-RIII) for the diagnosis of functional constipation as part of a routine clinic visit.

The effect of learning on feedback-related potentials in adolescents with dyslexia: an EEG-ERP study.

Introduction: Individuals with dyslexia exhibit associated learning deficits and impaired executive functions. The Wisconsin Card Sorting Test (WCST) is a learning-based task that relies heavily on executive functioning, in particular, attention shift and working memory. Performance during early and late phases of a series within the task represents learning and implementation of a newly learned rule.