Long-term characterization of behavior phenotypes in children with seizures: Analytic approach matters.

Objective: Behavioral problems in children with new onset epilepsies have been well established in the literature. More recently, the literature indicates the presence of unique behavioral patterns or phenotypes in youth with epilepsy that vary significantly in vulnerability and resilience to behavioral problems. This study contrasts the interpretation of behavioral risk as inferred from cross-sectional versus latent group analytic perspectives, as well as the presence, consistency, stability, and progression of behavioral phenotypes in youth with new onset epilepsy and sibling controls over 3 years.

Emotional facial expression and perioral motor functions of the human auditory cortex.

Objective: We investigated the role of transverse temporal gyrus and adjacent cortex (TTG+) in facial expressions and perioral movements.

Methods: In 31 patients undergoing stereo-electroencephalography monitoring, we describe behavioral responses elicited by electrical stimulation within the TTG+. Task-induced high-gamma modulation (HGM), auditory evoked responses, and resting-state connectivity were used to investigate the cortical sites having different types of responses on electrical stimulation.

Long-term characterization of cognitive phenotypes in children with seizures over 36 months.

Rationale: Children with new-onset epilepsies often exhibit co-morbidities including cognitive dysfunction, which adversely affects academic performance. Application of unsupervised machine learning techniques has demonstrated the presence of discrete cognitive phenotypes at or near the time of diagnosis, but there is limited knowledge of their longitudinal trajectories. Here we investigate longitudinally the presence and progression of cognitive phenotypes and academic status in youth with new-onset seizures as sibling controls.

The Impact of Sociodemographic Disadvantage on Cognitive Outcomes in Children With Newly Diagnosed Seizures and Their Unaffected Siblings Over 36 Months.

Background: Accumulating evidence indicates that children with newly diagnosed epilepsy have comorbidities including cognitive challenges. Research investigating comorbidities has focused on clinical epilepsy characteristics and neurobiological/genetic correlates. The role that sociodemographic disadvantage (SD) may play has received less attention.

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Background: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific.

Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).

Background: Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) are often present but underidentified and undertreated in individuals with tuberous sclerosis complex (TSC). The clinician-completed TAND-Lifetime Checklist (TAND-L) was developed to address this identification and treatment gap. Stakeholder engagement identified the need for a TAND Checklist that can (1) be completed by caregivers or individuals with TSC and (2) quantify TAND difficulties.

Neuropsychological outcomes after epilepsy surgery: A comparison of stereo electroencephalography and subdural electrodes.

Background And Purpose: We analyzed the association of neuropsychological outcomes after epilepsy surgery with the intracranial electrode type (stereo electroencephalography [SEEG] and subdural electrodes [SDE]), and electrical stimulation mapping (ESM) of speech/language.

Methods: Drug-resistant epilepsy patients who underwent comprehensive neuropsychological evaluation before and 1 year after epilepsy surgery were included. SEEG and SDE subgroups were matched by age, handedness, operated hemisphere, and seizure freedom.

Impact of sociodemographic disadvantage on neurobehavioral outcomes in children with newly diagnosed seizures and their unaffected siblings over 36 months.

Objective: This study was undertaken to determine the short-term and longer term impact of sociodemographic disadvantage on the emotional-behavioral status of youths with new onset epilepsy and their unaffected siblings at the time of diagnosis and the subsequent 3 years.

Methods: Three hundred twelve youths with newly diagnosed epilepsies and 223 unaffected siblings, aged 6-16 years, were independently assessed regarding their emotional and behavioral status by their parents and teachers at baseline, and at 18 at 36 months later; youths with seizures also completed self-report measures of depression, anxiety, and hostility at those three time points. A sociodemographic disadvantage score was computed for each family (children with newly diagnosed seizures and their siblings), and families were separated into four categories from most disadvantaged to least disadvantaged.

Characterizing Sleep Phenotypes in Children With Newly Diagnosed Epilepsy.

Background: Children with epilepsy frequently have sleep, behavior, and cognitive problems at the time of or before the epilepsy diagnosis. The primary goal of this study was to determine if specific sleep disturbance phenotypes exist in a large cohort of children with new-onset epilepsy and if these phenotypes are associated with specific cognitive and behavioral signatures.

Methods: A total of354 children with new-onset epilepsy, aged six to 16 years, were recruited within six weeks of initial seizure onset.

Functional MRI and electrical stimulation mapping for language localization: A comparative meta-analysis.

Objective: This systematic review and meta-analysis evaluated the diagnostic validity of functional magnetic resonance imaging (fMRI) compared to electrical stimulation mapping (ESM) for pre-surgical language mapping.

Methods: A structured literature search was performed and studies with electrode-level data comparing fMRI and ESM for language localization were analyzed. Outcome measures included pooled estimates of diagnostic odds ratio (DOR), sensitivity, and specificity.

The Relationship Between Sleep, Cognition and Behavior in Children With Newly-Diagnosed Epilepsy Over 36 Months.

Introduction: There is substantial evidence that children with epilepsy experience more sleep, behavior and cognitive challenges than children without epilepsy. However, the literature is limited in describing the relationship between sleep, epilepsy, cognition and behavioral challenges and the interactions amongst these factors over time. This study aims to understand the nature and strength of the relationship between sleep, cognition, mood and behavior in children with new-onset epilepsy as assessed by multiple informants at multiple time periods using multiple different dependent measures.

Neuronal Circuits Supporting Development of Visual Naming Revealed by Intracranial Coherence Modulations.

Background: Improvement in visual naming abilities throughout the childhood and adolescence supports development of higher-order linguistic skills. We investigated neuronal circuits underlying improvement in the speed of visual naming with age, and age-related dynamics of these circuits.

Methods: Response times were electronically measured during an overt visual naming task in epilepsy patients undergoing stereo-EEG monitoring.

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem).

Introduction: Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND represents the number one concern to families worldwide, yet is highly under-identified and under-treated. The clinician-administered TAND-Checklist (Lifetime version, TAND-L) has improved identification of TAND in clinical settings.

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.

Background: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research.

A distributed network supports spatiotemporal cerebral dynamics of visual naming.

Objective: Cerebral spatiotemporal dynamics of visual naming were investigated in epilepsy patients undergoing stereo-electroencephalography (SEEG) monitoring.

Methods: Brain networks were defined by Parcel-Activation-Resection-Symptom matching (PARS) approach by matching high-gamma (50-150 Hz) modulations (HGM) in neuroanatomic parcels during visual naming, with neuropsychological outcomes after resection/ablation of those parcels. Brain parcels with >50% electrode contacts simultaneously showing significant HGM were aligned, to delineate spatiotemporal course of naming-related HGM.

Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I.

Mucopolysaccharidosis (MPS) type I is a rare lysosomal storage disorder caused by an accumulation of glycosaminoglycans (GAGs) resulting in multisystem disease. Neurological morbidity includes hydrocephalus, spinal cord compression, and cognitive decline. While many neurological symptoms have been described, stroke is not a widely-recognized manifestation of MPS I.

Sirolimus Treatment in Sturge-Weber Syndrome.

Background: Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome.

High-gamma modulation language mapping with stereo-EEG: A novel analytic approach and diagnostic validation.

Objective: A novel analytic approach for task-related high-gamma modulation (HGM) in stereo-electroencephalography (SEEG) was developed and evaluated for language mapping.

Methods: SEEG signals, acquired from drug-resistant epilepsy patients during a visual naming task, were analyzed to find clusters of 50-150 Hz power modulations in time-frequency domain. Classifier models to identify electrode contacts within the reference neuroanatomy and electrical stimulation mapping (ESM) speech/language sites were developed and validated.

Neuropsychological outcomes after pediatric epilepsy surgery: Role of electrical stimulation language mapping.

Purpose: We studied the association between electrical stimulation mapping (ESM) with a visual naming task and post-operative neuropsychological outcomes after pediatric epilepsy surgery.

Methods: Children who underwent epilepsy surgery, having pre- and 1-year post-surgery neuropsychological evaluation (NPE) available, were included. NPE scores were transformed using principal components (PC) analysis.

Electrical stimulation sensorimotor mapping with stereo-EEG.

Objective: We evaluated stereo-EEG electrical stimulation mapping (ESM) for localization of anatomic sensorimotor parcels in pediatric patients with drug-resistant epilepsy. We also analyzed sensorimotor and after-discharge thresholds, and the somatotopy of sensorimotor responses.

Methods: ESM was performed with 50 Hz, biphasic, 2-3 s trains, using 1-9 mA current.

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.

Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex.

Background: Epilepsy has previously been implicated in the development of autism spectrum disorder (ASD) in the setting of tuberous sclerosis complex (TSC). However, the role of language in this relationship is unclear, and the specific relationship between ASD, epilepsy, and language development in this population has not been well-studied.

Objectives: The objectives the study were to identify the role of early language in subsequent development of ASD, evaluate the impact of epilepsy as a covariate on language development, and evaluate the relationship between epilepsy, language development, and development of ASD.

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.

Objective: To determine if routine electroencephalography (EEG) in seizure-naive infants with tuberous sclerosis complex (TSC) can predict epilepsy and subsequent neurocognitive outcomes.

Methods: Forty infants 7 months of age or younger and meeting the genetic or clinical diagnostic criteria for tuberous sclerosis were enrolled. Exclusion criteria included prior history of seizures or treatment with antiseizure medications.