Epileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities.

Objective: To investigate the frequency of epileptiform discharges associated with self-limited focal epilepsy (EDSelFEC) in children who have undergone a hemispherotomy and to evaluate whether patients with coexistence of EDSelFEC and structural hemispheric epilepsies differ from patients without coexistence of EDSelFEC and whether there are differences between the two groups with regard to preoperative management and postoperative outcome.

Methods: Data on 131 children who underwent a hemispherotomy between January 1999 and January 2015 were retrieved from the Epilepsy center's epilepsy surgery database. Children with EDSelFEC were compared with children without EDSelFEC with respect to epileptogenic hemispheric pathology, family history, age at epilepsy onset, timing of surgery, lesion laterality, preoperative cognitive function, response to sodium channel blocker antiepileptic medication, and surgical outcome.

A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values.

Purpose: The impact of pediatric traumatic brain injury (pTBI) on health-related quality of life (HRQoL) in children and adolescents remains understudied. Short scales have some advantages in terms of economy and administration over longer scales, especially in younger children. The aim of the present study is to psychometrically evaluate the six-item German version of the QOLIBRI-OS-KID/ADO scale for children and adolescents.

Final Validation of the Quality of Life after Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire.

Until recently, no disease-specific health-related quality of life (HRQoL) questionnaire existed for pediatric traumatic brain injuries (TBIs). In this revalidation study, the psychometric properties and the validity of the 35-item QOLIBRI-KID/ADO questionnaire in its final German version were examined in 300 children and adolescents. It is the first self-reported TBI-specific tool for measuring pediatric HRQoL in individuals aged between 8 and 17 years.

Health-Related Quality of Life after Pediatric Traumatic Brain Injury: A Quantitative Comparison between Children's and Parents' Perspectives of the QOLIBRI-KID/ADO Questionnaire.

Pediatric health-related quality of life (HRQoL) as a measure of subjective wellbeing and functioning has received increasing attention over the past decade. HRQoL in children and adolescents following pediatric traumatic brain injury (pTBI) has been poorly studied, and performing adequate measurements in this population is challenging. This study compares child/adolescent and parent reports of HRQoL following pTBI using the newly developed Quality of Life after Brain Injury in Children and Adolescents (QOLIBRI-KID/ADO) questionnaire.

Safety and Feasibility of Functional Repetitive Neuromuscular Magnetic Stimulation of the Gluteal Muscles in Children and Adolescents with Bilateral Spastic Cerebral Palsy.

: For children and adolescents affected by bilateral spastic cerebral palsy (BSCP), non-invasive neurostimulation with repetitive neuromuscular magnetic stimulation (rNMS) combined with physical exercises, conceptualized as functional rNMS (frNMS), represents a novel treatment approach. : In this open-label study, six children and two adolescents (10.4 ± 2.

Functional Repetitive Neuromuscular Magnetic Stimulation (frNMS) Targeting the Tibialis Anterior Muscle in Children with Upper Motor Neuron Syndrome: A Feasibility Study.

Non-invasive neurostimulation as an adjunctive intervention to task-specific motor training is an approach to foster motor performance in patients affected by upper motor neuron syndrome (UMNS). Here, we present first-line data of repetitive neuromuscular magnetic stimulation (rNMS) in combination with personalized task-specific physical exercises targeting the tibialis anterior muscle to improve ankle dorsiflexion (functional rNMS (frNMS)). The main objective of this pilot study was to assess the feasibility in terms of adherence to frNMS, safety and practicability of frNMS, and satisfaction with frNMS.

Quality of Life after Brain Injury in Children and Adolescents (QOLIBRI-KID/ADO)-The First Disease-Specific Self-Report Questionnaire after Traumatic Brain Injury.

The subjective impact of the consequences of pediatric traumatic brain injury (pTBI) on different life dimensions should be assessed multidimensionally and as sensitively as possible using a disease-specific health-related quality of life (HRQoL) instrument. The development and psychometrics of the first such self-report questionnaire for children and adolescents after TBI are reported here. Focus group interviews with children, adolescents, and their parents, cognitive debriefing, item pool generation and reduction using Delphi expert panels were performed.

Addressing gross motor function by functional repetitive neuromuscular magnetic stimulation targeting to the gluteal muscles in children with bilateral spastic cerebral palsy: benefits of functional repetitive neuromuscular magnetic stimulation targeting the gluteal muscles.

Background: Impaired selective motor control, weakness and spasticity represent the key characteristics of motor disability in the context of bilateral spastic cerebral palsy. Independent walking ability is an important goal and training of the gluteal muscles can improve endurance and gait stability. Combining conventional physical excercises with a neuromodulatory, non-invasive technique like repetitive neuromuscular magnetic stimulation probably enhances effects of the treatment.

A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury.

In the field of pediatric traumatic brain injury (TBI), relationships between pre-injury and injury-related characteristics and post-TBI outcomes (functional recovery, post-concussion depression, anxiety) and their impact on disease-specific health-related quality of life (HRQoL) are under-investigated. Here, a multidimensional conceptual model was tested using a structural equation model (SEM). The final SEM evaluates the associations between these four latent variables.

De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.

Background: Definition of the individual genotypes that cause a Mendelian phenotype is of great importance both to clinical diagnostics and disease characterization. Heterozygous de novo gain-of-function missense variants in RARB are associated with syndromic microphthalmia 12 (MCOPS12), a developmental disorder characterized by eye malformations and variable involvement of other organs. A subset of patients were described with poorly delineated movement disorders.

New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant: Time for Acute Genetic Testing Before Treatment?

Objective: The gene MT-TF encodes the mitochondrial tRNA of phenylalanine (tRNA). Its variations have been described as extremely rare etiologies of a variety of mitochondrial phenotypes.

Methods: By means of whole-exome sequencing (WES), we detected a novel likely causative MT-TF variant (m.

Feasibility of Functional Repetitive Neuromuscular Magnetic Stimulation (frNMS) Targeting the Gluteal Muscle in a Child with Cerebral Palsy: A Case Report.

Background: Motor impairment due to spasticity, weakness, and insufficient selective motor control is a key feature of cerebral palsy (CP). For standing and walking, the gluteal muscles play an important role. Physical therapy represents an evidence-based treatment to promote strength and endurance but may be limited to address selective motor control.

Psychometric Properties of the German Version of the Rivermead Post-Concussion Symptoms Questionnaire in Adolescents after Traumatic Brain Injury and Their Proxies.

The Rivermead Post-Concussion Symptoms Questionnaire (RPQ) assesses post-concussion symptoms (PCS) after traumatic brain injury (TBI). The current study examines the applicability of self-report and proxy versions of the German RPQ in adolescents (13-17 years) after TBI. We investigated reliability and validity on the total and scale score level.

Relationship between kinematic gait quality and caregiver-reported everyday mobility in children and youth with spastic Cerebral Palsy.

Background: 3D gait analysis (3DGA) is a common assessment in Cerebral Palsy (CP) to quantify the extent of movement abnormalities. Yet, 3DGA is performed in laboratories and may thus be of debatable significance to everyday life.

Aim: The aim was to assess the relationship between kinematic gait abnormality and everyday mobility in ambulatory children and youth with spastic CP.

Safety Profile and Lack of Immunogenicity of IncobotulinumtoxinA in Pediatric Spasticity and Sialorrhea: A Pooled Analysis.

IncobotulinumtoxinA, a pure botulinumtoxinA formulation, is free of accessory proteins. This analysis provides pooled safety data from phase 3 trials of children/adolescents (2-17 years), investigating incobotulinumtoxinA for the treatment of spasticity associated with cerebral palsy (at doses ≤20 U/kg (max. 500 U) per injection cycle (IC) for ≤6 ICs; three trials) or sialorrhea associated with neurologic disorders (at total doses of 20-75 U per IC for ≤4 ICs; one trial) for ≤96 weeks.

[Treatment of Sialorrhea with Botulinum Neurotoxin Type A - Consensus Practice Recommendations for Children and Adults].

Sialorrhea, uncontrolled, excessive drooling, accompanies different, mostly neurological disorders from childhood to adulthood. With incobotulinumtoxinA (Xeomin, IncoBoNT/A, Merz Pharmaceuticals GmbH), an approved medication for the treatment of sialorrhea has been available since 2019. Patient selection, possible therapy goals, treatment and the management of specific treatment situations build the focus of this interdisciplinary expert consensus recommendations with the intent to facilitate access to treatment and to contribute to qualified botulinum toxin therapy.

[Therapy of Sialorrhea with Botulinum Toxin - An Update].

The most important salivary glands are the paired parotid and submandibular glands. Adults produce 1 to 1.5 liters of saliva which are then regularly swallowed.