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The treatment of a patient who has experienced a first unprovoked seizure is somewhat problematical. In many such patients, the single seizure will remain an isolated incident and will not recur. However, the likelihood of further seizures is difficult to estimate, and published studies differ widely in their estimates. In a study of 208 patients who experienced a first unprovoked seizure, follow-up was maintained for an average of four years. During that time, seizures recurred in 64 patients. The probability of a recurring seizure was estimated at 14, 29, and 34 percent at one, three, and five years, respectively. Several risk factors were identified that were associated with an increased likelihood of seizure recurrence; these included a sibling with epilepsy and generalized spike and wave patterns on the EEG. The authors suspect that differences in the presence of various risk factors may account for some of the variation among the published reports of seizure recurrence. When different risk factor groups were considered separately, the risk of recurring seizure ranged from 23 to 80 percent. An unusual finding of the study was that the prescription of antiepileptic drugs provided no decrease in the risk of a recurring seizure. Indeed, the observed rate of seizures was slightly higher among the patients treated with antiepileptic drugs, although this difference was not statistically significant. This observation, while interesting, cannot be construed as implying that the drug treatment was ineffective, as there was no control for patient compliance or the potential effects of antiepileptic drug withdrawal in the present study. (Consumer Summary produced by Reliance Medical Information, Inc.)

Objective: To evaluate the relationship between neurologic outcome at 1 month following diagnosis of pediatric arterial ischemic stroke (AIS) and motor and adaptive behavior outcomes at 12 months., Methods: This prospective longitudinal observational cohort study recruited children from a single tertiary children's hospital diagnosed with first AIS between December 2007 and November 2013. Neurologic impairment was evaluated at 4 time points using the Pediatric Stroke Outcome Measure (PSOM) or Recovery and Recurrence Questionnaire following diagnosis of AIS (acute, 1, 6, and 12 months). Motor function and adaptive behavior were assessed at 12 months using standardized measures. Children were grouped for analysis, according to age at diagnosis (neonates vs preschool vs school-aged). The relationship between neurologic impairment and 12-month functional outcomes were examined., Results: Sixty-four children were recruited (27 neonates, 19 preschool-aged, and 18 school-aged). Presence of impairment on the PSOM at 1 month was associated with lower 12-month fine motor z scores ( p = 0.004), gross motor z scores ( p = 0.001), and adaptive behavior standard scores ( p = 0.004). One-month PSOM impairment score was more predictive than age group or lesion size of 12-month motor and adaptive behavior outcome., Conclusions: The PSOM has value as a predictive tool when used at 1 month after first AIS diagnosed acutely in relation to motor and adaptive behavior, with variation according to age group., (© 2018 American Academy of Neurology.)

Objective: To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A ., Methods: Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery., Results: Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition., Conclusions: We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS., (© 2017 American Academy of Neurology.)

We report the clinical, genetic, and neuropathologic findings in a patient with rapidly progressive familial amyotrophic lateral sclerosis (ALS). We detected a point mutation at codon 48 of the Cu/Zn superoxide dismutase gene (SOD1) leading to a substitution of histidine by glutamine in the copper-binding domain. The histopathologic features are consistent with those described in rapidly progressive sporadic ALS and do not support claims that sporadic and familial disease are different pathologic entities. Neurofilamentous accumulations, hyaline, and ubiquitinated inclusions were present in the motor cortex, brainstem, and anterior horn cells, but there was no evidence of abnormal SOD1 immunoreactivity. This confirms that the cytoskeletal pathology specific to ALS is secondary to an unknown biochemical disturbance caused by mutant SOD1 molecules and not its toxic accumulation.