Behavioural disorder in people with an intellectual disability and epilepsy: a report of the Intellectual Disability Task Force of the Neuropsychiatric Commission of ILAE

The management and needs of people with intellectual disability (ID) and epilepsy are well evidenced; less so, the comorbidity of behavioural disorder in this population. ‘Behavioural disorder’ is defined as behaviours that are difficult or disruptive, including stereotypes, difficult or disruptive behaviour, aggressive behaviour toward other people, behaviours that lead to injury to self or others, and destruction of property. These have an important link to emotional disturbance. This report, produced by the Intellectual Disability Task Force of the Neuropsychiatric Commission of the ILAE, aims to provide a brief review of some key areas of concern regarding behavioural disorder among this population, and proposes a range of research and clinical practice recommendations generated by Task Force members. The areas covered in this report were identified by experts in the field as being of specific relevance to the broad epilepsy community when considering behavioural disorder in persons with epilepsy and ID; they are not intended to be exhaustive. The practice recommendations are based on the authors’ review of the limited research in this field combined with their experience supporting this population. These points are not graded but can be seen as expert opinion guiding future research and clinical practice

Paroxysmal discharges on EEG in young autistic patients are frequent in frontal regions

EEGs were recorded in 86 autistic patients during sleep. Epileptic discharges were observed in 37 cases (43%). Twenty-seven (73%) of these 37 cases had localized spikes, 8 had multiple spike foci, one had generalized spikes, and one had both multiple spike foci and generalized spikes. Fourty-seven epileptic discharge foci were registered in 36 cases, the exception being one with generalized spikes. Thirty-six (76.6%) of the registered 47 epileptic discharge foci were in the frontal region, one (2.1%) in the temporal region, 7 (14.1%) in the centro-parietal region, and 3 (6.4%) in the occipital region. Twenty (55.6%) of the 36 frontal spikes were at midline (11 at Fz and 9 at Cz), 8 on the left side, and 8 on the right side. The dipole of midline spikes was in the deep midline frontal region. These results suggest that frontal dysfunctions are important in the mechanism of symptoms in autism

Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications Survey Report of ILAE Task Force Medical Therapies in Children

OBJECTIVE: Antiseizure medications (ASMs) remain the mainstay of epilepsy treatment. These ASMs have mainly been tested in trials in adults with epilepsy, which subsequently led to the market authorization (MA). For treatment of -especially young- children with epilepsy, several ASMs do not have a MA and guidelines are lacking, subsequently leading to "off-label" use of ASMs. Even though "off-label" ASM prescriptions for children could lead to more adverse events, it can be clinically appropriate and rational if the benefits outweigh the risks. This could be the case if "on-label" ASM, in mono- or polytherapy, fail to achieve adequate seizure control. METHODS: The Medical Therapies Task Force of the International League Against Epilepsy (ILAE) Commission for Pediatrics performed a survey to study the current treatment practices in six classic, early life epilepsy scenarios. Our aim was not only to study first- and second-line treatment preferences, but also to illustrate the use of "off-label" drugs in childhood epilepsies. RESULTS: Our results reveal that several ASMs (e.g. topiramate, oxcarbazepine, benzodiazepines) are prescribed "off-label" in distinct scenarios of young children with epilepsy. In addition, recent scientific guidelines were not always adopted by several survey respondents, suggesting a potential knowledge gap. SIGNIFICANCE: We report the relatively common use of "off-label" prescriptions that underlines the need for targeted and appropriately designed clinical trials, including younger patients, which will also result in the ability to generate evidence-based guidelines

“Transmantle sign”を示す限局性皮質異形成における神経細胞の成熟と分化の未熟性：層特異的マーカー発現による解析

Transmantle dysplasia is a rare type of focal cortical dysplasia (FCD) characterized by expansion of the cortex from the deep white matter to the surface and in which there is a FCD IIA or IIB pathologic pattern. To characterize possible mechanisms underlying this regional disorder of radial migrating cells, we studied the expression patterns of neocortical layer-specific markers using immunohistochemistry in surgical specimens from 5 FCD IIA and 4 FCD IIB cases in children. All neuronal cells expressed the mature neuron marker MAP2/2B but not the microglia markers Iba-1 and CD68. Some layer-specific markers showed distinct expression patterns. TBR1-positive, SATB2-positive, and FOXP1-positive cells were diffusely distributed in the cortex and/or the white matter. TBR1-positive and FOXP1-positive cells were generally more numerous in FCD IIB than in FCD IIA and were mostly in the cortical molecular and upper layers. FOXP1-, FOXP2-, and CUTL1-positive cells also expressed the immature neuron marker, Nestin/PROX1, whereas TBR1-, CTIP2-, and SATB2-positive cells only expressed MAP2/2B. These data highlight differences between FCD IIB and FCD IIA with more cells having the immature marker in upper layer markers in the former. By analyzing layer-specific marker expression patterns, we identified apparent neuronal maturation differences between FCD IIA and FCD IIB in cases of transmantle dysplasia.博士（医学）・乙第1312号・平成25年5月29

My contemporaries in 20^<th> century.

De novo copy number variations (CNVs) identified in the 1210B2 iPSC-derived NSPCs. (XLSX 39 kb

Successful long-term management for postoperative sternal infection with multiple disseminated lymphadenitis caused by Mycobacterium abscessus

Abstract Background Postoperative sternal infection caused by Mycobacterium abscessus (M. abscessus) is rare, but associated with a high 2-year mortality rate of 40%. Decision-making around treatment strategy is challenging. Here, we present a successfully treated case of postoperative M. abscessus sternal infection with multiple disseminated lymphadenitis. Case presentation The patient, an 80-year-old woman with anterior mediastinal tumor and myasthenia gravis, underwent extended thymectomy under median sternotomy. Redness appeared around the scar two months after the operation. Sternal wires were removed, debridement was performed, and the wound was kept open. Mycobacterium abscessus was isolated from the wound culture. The disseminated lesions in the right axillary, parasternal, and bilateral supraclavicular lymph nodes, rendered surgical options for infection control difficult; therefore, she was treated conservatively with antibiotics and negative pressure wound therapy (NPWT). The wound diminished but infectious granulation tissue remained after NPWT. Two disseminated lesions were percutaneously punctured and drained of pus, which resulted in negative cultures. Additional debridement and wound closure were performed. She was discharged after switching to oral antibiotics. No recurrence was observed five months after the antibiotics were completed (total sensitive antibiotics use: 366 days). Conclusions Repeated culture assessment of disseminated lesions is recommended to facilitate the development of appropriate therapeutic strategies. Localized procedures may be an option for patients with controlled disseminated lesions evidenced by negative cultures