Epilepsy and Behavior Reports最新文献

Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations. Here we present a case of a 4-month-old female with new onset infantile epileptic spasms syndrome (IESS) with initial etiology concerned for congenital cytomegalovirus (cCMV) due to a positive urine CMV PCR and maternal viral syndrome during pregnancy. Her brain MRI was significant for type 1 lissencephaly without other radiographical features of cCMV. The patient initially responded to high dose Prednisolone but had relapse of spasms at 9-month-old and required an ACTH course. She later developed generalized tonic seizures and focal impaired awareness seizures. Subsequent whole exome sequencing (WES) trio revealed a de novo PAFAH1B1 (c.405G > A, p.W135*) heterozygous nonsense variant which is pathogenic and thus solved the diagnostic puzzle. This case demonstrates that the absence of cCMV stigmata should raise concern for alternative etiology in cases of lissencephaly and the importance of genetic evaluation for subsequent management and family counseling.

This study utilized a qualitative design to explore dietitians’ perceptions regarding Ketogenic Diet Therapy (KDT) for patients with drug-resistant epilepsy in Kenya. Dietitians from Kenya were selected and consented. Audio-recorded interviews were conducted, followed by thematic analysis of verbatim transcripts to identify recurring patterns. The study enrolled 18 dietitians, fourteen of whom correctly described their understanding of KDT for managing drug-resistant epilepsy. There was a lack of confidence in their capacity to initiate the KDT with all expressing the need for further training and facilitation. Only one dietitian reported having initiated and maintained KDT. There was an overall positive view regarding KDT and willingness to implement KDT for patients with drug-resistant epilepsy. Dietitians expressed concerns regarding the availability of national policies, inadequate staffing to support families who require KDT, and the cost of implementing this intervention. Dietitians expressed interest in virtual training to enhance their understanding of KDT. Dietitians in Kenya are mostly aware of KDT utilization for the management of drug-resistant epilepsy. However, they cited poor capability and various barriers to implementation. There is a need for policies to facilitate KDT as a treatment option for the benefit of patients with drug-resistant epilepsy.

Neonatal seizures can lead to long-term neurodevelopmental problems. This study aims to identify predictors of poor developmental outcomes in neonates with seizures to aid in early intervention and referral for follow-up and rehabilitation.

This observational study was conducted in the Department of Neonatology and Institute of Paediatric Neurodisorder and Autism, Bangabandhu Sheikh Mujib Medical University. Among 75 study cases of neonatal seizure, 23 died, and 46 were followed-up at 6 and 9 months after discharge. EEGs were performed on every patient. A comprehensive neurological examination and developmental evaluation were performed using Bayley Scales of Infant and Toddler Development, Third Edition (Bayley III).

Three-fourths of neonates were born at term (76.1 %), and over half were male (56.5 %). The majority were appropriate for gestational age (79.7 %) and had an average birth weight of 2607 ± 696 g (±SD). Over half of the neonates (52.2 %) had adverse neurodevelopmental outcomes, with global developmental delay being the most common. Recurrent seizures, the number of anticonvulsants needed to control seizures, and abnormal Electroencephalograms were identified as independent predictors of adverse neurodevelopmental outcomes.

The study highlights the need for early referral for follow-up and rehabilitation of neonates with seizures having abnormal electroencephalograms, recurrent seizures and requiring more anticonvulsants to control seizures.

KCNH5 gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated the clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.R327H) in KCNH5 gene. These patients had undergone video EEG to evaluate background features and epileptiform activity, as well as 3.0 T MRI scans for structural analysis and intelligence assessments using the Gesell Developmental Observation or Wechsler Intelligence Scale for Children. Seizure onset occurs between 4 and 10 months of age, with focal and generalized tonic-clonic seizures being common. Initial EEG findings showed multiple multifocal sharp waves, sharp slow waves or spike slow waves, and spike waves. Brain MRI revealed widened extracerebral space in only one patient. Mechanistically, the KCNH5 mutation disrupts the two hydrogen bonds between Arg327 and Asp304 residues, potentially altering the protein’s structural stability and function. Almost 80 % of patients receiving add-on valproic acid (VPA) therapy experienced a reduction in epileptic seizure frequency. Altogether, this study presents the first Chinese cohort of pediatric DEE patients with the KCNH5 p.R327H mutation, highlighting focal seizures as the predominant seizure type and incomplete mutation penetrance. Add-on VPA therapy was likely effective in the early stages of DEE pathogenesis.

We determine the proportion of non-Antiseizure Medication Adherence (non-AMA) and refusal attitude towards Epilepsy Surgery (ES) and their associated factors in Moroccan People With Epilepsy (PWE). A cross-sectional study was conducted (December 2021-December 2022) among adult Moroccan PWE. PWE were interviewed for their reactions to AMA and the ES attitude. Their medical files were processed to complete their sociodemographic and clinical data. Data were analyzed by the Statistical Package for Social Sciences (SPSS) software 21.0. A Chi-square test was performed to compare variables and multivariate logistic regression was used to highlight associations. Statistical tests were considered significant at a p-value ≤ 0.05 for a Confidence Interval (CI) of 95 %. The median age of our sample (n = 294) was 38 years (IQR: 25.00–55.00). Non-AMA was noted in 24.5 % with indifference as the main reason (55.6 %). ES refusal was found in 33.3 %, attributed mostly to apprehension (61.2 %). In the multivariate analysis, male sex (aOR = 1.94; 95 %CI: 1.03–3.64) and the existence of a family history of epilepsy (aOR = 1.96; 95 %CI: 1.02–3.75) were the factors associated with the non-AMA, whereas the use of allopathic treatments (aOR = 2.32; 95 %CI: 1.20–4.51), exclusively focal or generalized (not combined) seizures (aOR = 2.66; 95 %CI: 1.36–5.21) and the combination of a generic with the originator ASM (aOR = 2.64; 95 %CI: 1.12–6.18) were the predictive factors with the ES refusal attitude. The proportions found of non-AMA and ES refusal were relatively low compared to other studies, which may indicate the effort that medical staff have devoted recently to raising awareness of the importance of PWE’s therapeutic involvement.

Around 40% of patients who undergo a left temporal lobe epilepsy (LTLE) surgery suffer from anomia (word-finding difficulties), a condition that negatively impacts quality of life. Despite these observations, language rehabilitation is still understudied in LTLE. We assessed the effect of a four-week rehabilitation on four drug-resistant LTLE patients after their surgery. The anomia rehabilitation was based on cognitive descriptions of word finding deficits in LTLE. Its primary ingredients were psycholinguistic tasks and a psychoeducation approach to help patients cope with daily communication issues. We repeatedly assessed naming skills for trained and untrained words, before and during the therapy using an A-B design with follow-up and replication. Subjective anomia complaint and standardized language assessments were also collected. We demonstrated the effectiveness of the rehabilitation program for trained words despite the persistence of seizures. Furthermore, encouraging results were observed for untrained items. Variable changes in anomia complaint were observed. One patient who conducted the protocol as self-rehabilitation responded similarly to the others, despite the different manner of intervention. These results open promising avenues for helping epileptic patients suffering from anomia. For example, this post-operative program could easily be adapted to be conducted preoperatively.

The BRAT1 gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of BRAT1-related disorders is highlighted, emphasizing the importance of considering this condition in the differential diagnosis of neurodevelopmental disorders. This study aimed to identify a causative variant in an Iranian patient affected by developmental delay, speech delay, seizure, and clubfoot through whole exome sequencing (WES) followed by Sanger sequencing. The WES revealed a novel biallelic variant of the BRAT1, c.398A>G (p.His133Arg), in the patient, which segregated within the family. A literature review suggests that the phenotypic variability associated with BRAT1 mutations is likely due to multiple factors, including the location and type of mutation, the specific functions of the protein, and the influence of other genetic and environmental factors. The phenotypic variability of BRAT1-related disorders underscores the importance of considering BRAT1-related disorders in the differential diagnosis of epileptic encephalopathy with rigidity. These findings provide important insights into the role of BRAT1 in neurodevelopmental disorders and highlight the potential clinical implications of identifying and characterizing novel variants in this gene.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children often requires early immunosuppressive therapy before antibody detection. While various electroencephalogram (EEG) patterns, including extreme delta brushes (EDBs), have been reported in adults, pediatric EEG characteristics remain understudied. This study aims to assist clinicians in identifying severe cases early, potentially improving treatment outcomes through prompt intervention. This retrospective case series examined EEG features influenced by disease severity in children with anti-NMDAR encephalitis. We evaluated six children (1–13 years old; four females, two males) treated at Tokyo Metropolitan Neurological Hospital from January 2007 to January 2023. The severity of autoimmune encephalitis in our patients was assessed using the Clinical Assessment Scale in Autoimmune Encephalitis (CASE). The literature proposes a severity classification for the CASE score, wherein scores of 0–8 points are categorized as mild, 9–18 points as moderate, and 19–27 points as severe. In our patients, CASE scores ranged from 4 to 25 (median:19). We reviewed acute-phase EEG recordings, including 13 long-term videos and 58 conventional recordings. None of the patients maintained a normal posterior-dominant rhythm, and only one exhibited EDBs. Notably, three patients with higher CASE scores (≥15) displayed abnormal theta-band rhythm during non-REM sleep and prolonged EEG recovery times. Our findings suggest that abnormal theta-band rhythms may serve as a potential acute-phase EEG biomarker for severe anti-NMDAR encephalitis in children.

People with active epilepsy, which is often associated with specific neurological conditions, endure significant impairments in quality of life (QoL) and functioning, particularly those in middle-income countries. Physical intervention plays an essential role in addressing these challenges. This study investigated the impact of equine-assisted therapy (EAT) on QoL, functional independence, sleep quality, antiseizure medications, and frequency of seizures among people with epilepsy (PWE), with or without additional neurological conditions. Fourteen participants aged 4–34 years old diagnosed with focal epilepsy participated in a structured EAT program. The EAT program consisted of 36 sessions, each lasting 30 min and conducted weekly. Data were collected at four different times: baseline (T1), after 12 sessions (T2), after 24 sessions (T3), and after 36 sessions (T4). The assessments included the Quality of Life in Epilepsy (QOLIE-31), Functional Independence Measure (FIM), Pittsburgh Sleep Quality Index (PSQI), and Liverpool Adverse Event Profile (LAEP) scores. Seizure frequency was monitored continuously. Horse welfare was evaluated using the Horse Welfare Assessment Protocol (HWAP). After the EAT intervention, significant improvements were observed in the QoL scores (from 62.18 [57.88 – 70.25] to 80.18 [65.30 – 86.78]) and in FIM values (from 70.00 [36.50 – 97.75] to 70.00 [51.75 – 116.75]), particularly in the self-care and social cognition domains. Additionally, there was also a decrease in seizure frequency, adverse effects of antiseizure medications, and sleep quality. The HWAP indicated satisfactory welfare conditions for the horses. These findings indicate that EAT holds promise as a therapeutic intervention for improving the QoL and functioning of PWE. Tailored interventions are essential to address the diverse challenges faced by PWE, emphasizing the need for further research on effective therapeutic approaches.