How Encephalopathy Impacts Language Ability: A Scoping Review of the Linguistic Abilities of Adults with Developmental and Epileptic Encephalopathy.

: Developmental and epileptic encephalopathy refers to a group of conditions where patients experience abnormal development due to various causes as well as frequent epileptiform discharges that ultimately contribute, in an independent and additive fashion, to cognitive and linguistic impairments. The language and cognition outcome of these patients in adulthood has been understudied. This paper aims to present a scoping review of linguistic abilities in adults with developmental and epileptic encephalopathy to determine the extent to which language outcomes in adulthood and their relation to cognitive outcomes have been studied.

Acquired motor speech disorders in childhood epilepsy.

Aim: To evaluate a group of children with epilepsy and motor speech regression, with the aim of characterizing their speech disorders, electrographic features, and outcomes.

Method: Children referred to a tertiary developmental epilepsy clinic with epilepsy and motor speech regression were identified retrospectively. A clinical history was taken, and longitudinal speech and cognitive data were recorded.

Continuous Spike-Waves during Slow Sleep Today: An Update.

In the context of childhood epilepsy, the concept of continuous spike-waves during slow sleep (CSWS) includes several childhood-onset heterogeneous conditions that share electroencephalograms (EEGs) characterized by a high frequency of paroxysmal abnormalities during sleep, which have negative effects on the cognitive development and behavior of the child. These negative effects may have the characteristics of a clear regression or of a slowdown in development. Seizures are very often present, but not constantly.

Landau-Kleffner Syndrome, Attention-Deficit/Hyperactivity Disorder (ADHD), and Viral/Autoimmune Encephalitis: Challenges in the Diagnosis and Management of a Six-Year-Old Boy.

In this case, we discuss the difficulties and challenges faced when diagnosing and treating a six-year-old boy presenting with abnormal behaviors and difficulty in concentration and inattentiveness, followed by regression of expressive language. These symptoms were then followed by hyperactivity, bouts of anger, and difficulty sleeping. The patient was seen by a psychiatrist, and he was diagnosed with attention-deficit/hyperactivity disorder (ADHD) initially and treated with little to no improvement.

Unmet needs in epileptic encephalopathy with spike-and-wave activation in sleep: A systematic review.

Introduction: Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS), also referred to as electrical status epilepticus during sleep (ESES) or epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS or EE-CSWS), is a spectrum of rare childhood epileptic encephalopathies that can lead to long-term cognitive impairment. Despite the importance of early diagnosis and intervention for D/EE-SWAS, there is a paucity of well-controlled clinical trial data to inform treatment, and no approved treatments are available. To assess correlations between diagnosis, treatment, and outcomes in D/EE-SWAS, we carried out a systematic review of the literature.

Developmental regression in children: Current and future directions.

Developmental regression describes when a child loses previously established skills, such as the ability to speak words and is most recognised in neurodevelopmental conditions including Autism; Developmental Epileptic Encephalopathies, such as Landau Kleffner syndrome, and genetic conditions such as Rett syndrome and Phelan McDermid syndrome. Although studies have reported developmental regression for over 100 years, there remain significant knowledge gaps within and between conditions that feature developmental regression. The certainty of evidence from earlier work has been limited by condition-specific studies, retrospective methodology, and inconsistency in the definitions and measures used for classification.

Age-Related Changes in Epilepsy Characteristics and Response to Antiepileptic Treatment in Autism Spectrum Disorders.

Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis were collected from individuals with ASD and seizures. We previously reported overall general patterns of treatment effectiveness but did not examine the effect of seizure characteristics or age on antiepileptic treatment effectiveness.

Sleep and respiratory abnormalities in adults with developmental and epileptic encephalopathies using polysomnography and video-EEG monitoring.

This study evaluated sleep and respiratory abnormalities, and their relationship with seizures, in adults with developmental and epileptic encephalopathies (DEEs). We studied consecutive adults with DEEs undergoing inpatient video-EEG monitoring and concurrent polysomnography between December 2011 and July 2022. Thirteen patients with DEEs were included (median age: 31 years, range: 20-50; 69.

[Epileptic syndromes associated with focal clonic seizures].

Objective: To study clinical, electroencephalographic and neuroimaging features in children with epileptic syndromes associated with focal clonic seizures (FCS).

Material And Methods: We examined 1258 patients with various forms of epilepsy with the onset of seizures from the first day of life to 18 years.

Results: FCS was identified in 263 patients (20.

GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.

Language dysfunction is a common and serious comorbidity of epilepsy, especially in individuals with epilepsy aphasia spectrum syndromes. Childhood epilepsy with centrotemporal spikes is on the mild end of the spectrum, while epileptic encephalopathy with continuous spike-and-wave during sleep syndrome is on the severe end. Traditional antiseizure medicines and immunotherapy are currently used to treat severely affected patients, but the results are usually disappointing.

Acquired childhood aphasia as a consequence of COVID-19 and its differential diagnosis from speech-language pathologist perspective: A case study.

It is essential to be more vigilant in understanding impact of COVID-19 on children's speech and language skills. As studies in these lines are very sparse, it is imperative to profile these children and derive accurate diagnosis. Accurate diagnosis aids Speech-Language Pathologists (SLPs) to render speech and Language therapy systematically.

Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.

Background: Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and behavioral changes. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and social interaction and by repetitive and restricted patterns of behavior, interests and activities. The aim of this review is to discuss the clinical features of the differential diagnoses of ASD that are prevalent among preschoolers, focusing on their similarities and disparities.

Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

Aim: To study neurotransmitter status in children with early epileptic and developmental and epileptic encephalopathy (DEE) and to explore the clinical response to dopaminergic and serotoninergic therapies in a group of patients.

Method: Two hundred and five patients (111 males [54.1.

Koolen-de Vries syndrome associated with continuous spike-wave in sleep.

Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some or all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations.

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

The 2017 International League Against Epilepsy classification has defined a three-tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a specific syndrome provides guidance on management and prognosis. In this paper, we describe the childhood onset epilepsy syndromes, most of which have both mandatory seizure type(s) and interictal electroencephalographic (EEG) features.

Long-term outcome of developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies are conditions where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Usually they have multiple etiologies. Therefore, long-term outcome is related to both etiology-related factors and epilepsy-related factors-age at onset of epilepsy, type(s) of seizure(s), type of electroencephalographic abnormalities, duration of the epileptic disorder.

Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.

GRIN2A encodes for the 2A subunit of N-methyl-D-aspartate receptors. Pathogenic variants in GRIN2A have been associated with a wide spectrum of neurodevelopmental disorders ranging from speech disorders and/or self-limiting epilepsy (childhood epilepsy with centrotemporal spikes) to severe and disabling phenotypes (atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-wave during sleep, Landau-Kleffner syndrome and infantile-onset epileptic encephalopathy). Here we describe a family with two affected sisters with atypical childhood epilepsy with centrotemporal spikes and their mildly affected mother carrying a novel N-terminal null variant in GRIN2A gene.

The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.

Objective: Drug-resistant epilepsy (DRE) affects many children. Vagus nerve stimulation (VNS) may improve seizure control; however, its role in children with genetic etiologies of epilepsy is not well described. The authors systematically reviewed the literature to examine the effectiveness of VNS in this cohort.

Cerebral dominance in an unusual case of Landau-Kleffner syndrome.

Landau-Kleffner syndrome (LKS) is described by the International Classification of Epileptic Syndromes since 1985 as a constellation of clinical and electrographic signs, including acquired aphasia, regression of language milestones and seizures, along with sleep-activated paroxysms on electroencephalogram which can progress to electrographic status epilepticus of sleep. In this case, a 7-year-old boy presented with an atypical history of new-onset aphasia and regression of language milestones with rare seizures. However, there was an electrographic mismatch in the form of right-sided epileptiform activity and continuous spike and wave of sleep pattern.