APPROACHES TO WEST SYNDROME TREATMENT: WHICH AEDs HELP BETTER?

Abstract. The study analyzes the effectiveness of short-term and long-term treatment of West syndrome with the help of different antiepileptic drugs (AEDs) (combined therapy with the inclusion of Tetracosactide in comparison with nonhormonal antiepileptic drugs). The RR risk ratio was calculated using Review Manager 5.2 (http://community.cochrane.org). A complete absence of seizures was considered as a favorable outcome. 150 children with confirmed West syndrome who received treatment at A.Yu.Ratner Pediatic Clinical Hospital №8 (Kazan, Russian Federation) were included into a retrospective observational study. 90 children treated with Tetracosactide in combination with AEDs were included into Group I. Group II consisted of 60 children who received any AEDs except Tetracosactide. The results showed that the effectiveness of Tetracosactide with complete absence of seizures as favorable outcome with short-term observation (at least 6 months) is higher than after treatment with other antiepileptic drugs in the absence of difference in safety. Long-term results of treatment (complete clinical remission during threeyears or more) did not have a significant difference.Keywords: West syndrome, Tetracosactide, antiepileptic drugs, epilepsy, effectiveness of treatment

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with/without aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability. In female patients, multivariable logistic regression analysis revealed age at epilepsy onset, eyelid myoclonia status epilepticus, psychiatric comorbidities, and catamenial seizures as significant predictors of drug resistance. In male patients, a history of febrile seizures was the only predictor of drug resistance. Hence, our study reveals sex-specific differences in terms of both electroclinical features and prognostic factors. Our findings support the importance of a sex-based personalized approach in epilepsy care and research, especially in genetic generalized epilepsies

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Objective Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome. Methods In this multicenter retrospective cohort study, we included 267 EEM patients from nine countries. Data on electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy, and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia involving body regions other than eyelids (body-MYO). Results Kernel density estimation revealed a trimodal distribution of AEO, and Fisher-Jenks optimization disclosed three EEM subgroups: early onset (EO-EEM), intermediate onset (IO-EEM), and late onset (LO-EEM). EO-EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness, and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EEM was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO-EEM and LO-EEM compared with EO-EEM. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome. Significance Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians toward a more accurate classification and prognostic profiling of EEM patients

Sensory alalia: terminology and differentiated diagnosis

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A Comprehensive Model of Neuropsychological and Speech Assessment for Children with ASD

Modern scientific projects connected with autism spectrum disorders (ASD) study the difficulties in differential diagnosis of ASD and other types of developmental dysphasia, issues of cognitive and physical development of children with ASD, formation of trajectories for their individual and group education and training, their social integration. The relevance of the study is explained by the necessity to work out a system of medical, psychological, linguistic and educational support for children with ASD corresponding to the modern requirements of society and global practices. The aim of the research is to develop a comprehensive model of neuropsychological assessment and study of speech development for preschool children with ASD. This model assumes the implementation of a) the Russian-language version of the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP), b) the Russian-language version of the BVL battery for speech assessment (BVL_RU), c) traditional for Russia approaches to the diagnosis of developmental disorders and speech impairment. The platform for the project is the kindergarten of Kazan Federal University "We are together". The comprehensive model includes a new methodological framework, which implements the achievements of cognitive sciences, neuropsychology and neurolinguistics in interdisciplinary fields. The results of the research can be implemented into the practice of teaching preschool children with ASD and become the basis for the further development of this comprehensive model for schoolchildren with ASD

A Comprehensive Model of Neuropsychological and Speech Assessment for Children with ASD

Modern scientific projects connected with autism spectrum disorders (ASD) study the difficulties in differential diagnosis of ASD and other types of developmental dysphasia, issues of cognitive and physical development of children with ASD, formation of trajectories for their individual and group education and training, their social integration. The relevance of the study is explained by the necessity to work out a system of medical, psychological, linguistic and educational support for children with ASD corresponding to the modern requirements of society and global practices. The aim of the research is to develop a comprehensive model of neuropsychological assessment and study of speech development for preschool children with ASD. This model assumes the implementation of a) the Russian-language version of the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP), b) the Russian-language version of the BVL battery for speech assessment (BVL_RU), c) traditional for Russia approaches to the diagnosis of developmental disorders and speech impairment. The platform for the project is the kindergarten of Kazan Federal University "We are together". The comprehensive model includes a new methodological framework, which implements the achievements of cognitive sciences, neuropsychology and neurolinguistics in interdisciplinary fields. The results of the research can be implemented into the practice of teaching preschool children with ASD and become the basis for the further development of this comprehensive model for schoolchildren with ASD.1227-123

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

OBJECTIVE: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome. METHODS: In this multicenter retrospective cohort study, we included 267 EEM patients from 9 countries. Data about electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO). RESULTS: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EEM subgroups: early-onset (EO-EEM), intermediate-onset (IO-EEM) and late-onset subgroup (LO-EEM). EO-EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EEM was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO-EEM and LO-EEM compared with EO-EEM. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome. SIGNIFICANCE: Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians towards a more accurate classification and prognostic profiling of EEM patients

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM study group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability. In female patients, multivariable logistic regression analysis revealed age at epilepsy onset, eyelid myoclonia status epilepticus, psychiatric comorbidities and catamenial seizures as significant predictors of drug resistance. In male patients, a history of febrile seizures was the only predictor of drug resistance. Hence, our study reveals sex-specific differences both in terms of electroclinical features and prognostic factors. Our findings support the importance of a sex-based personalized approach in epilepsy care and research, especially in genetic generalized epilepsies