Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

In the first installment of this series (Exceptional Parent Magazine, May 2010), the author discussed epilepsy surgery performed in persons whose areas of brain abnormality were initially deemed to be too extensive to safely perform a resection of the involved area. The process leading to surgical remediation for seizures is an involved one, but…

Background: The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south-eastern part of Poland. Methods: The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening…

Dravet syndrome, or as it was called in the past "severe myoclonic epilepsy in infancy", is a drug-resistant epilepsy first described by Charlotte Dravet in 1978. Besides the well-known and well-described therapy resistance, Dravet syndrome dramatically impacts the development and behaviour of the affected children. As it is still not a curable…

Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman's (2000) classifications by using photographs to identify a subgroup with…

Nitric oxide (NO) and interlukin-6 (IL-6) are highly reactive mediators that have been shown to play different roles in a variety of different biological process. The role of NO and IL-6 in the neuropathogenesis of brain seizures is still questionable. In order to evaluate the role of NO and IL-6 in neurological disorders such as seizures, we…

Background: There is a noticeable publication gap in the speech-language pathology literature regarding the language abilities of children with common types of epilepsy. This paper reviews studies that suggest a high frequency of undetected language problems in this population, and it proposes the need for pragmatically based assessment of…

Background: Medication is an important element of therapeutic strategies for ADHD. While medications for ADHD are generally well-tolerated, there are common, although less severe, as well as rare but severe adverse events AEs during treatment with ADHD drugs. The aim of this review is to provide evidence- and expert-based guidance concerning the…

Infrared thermography has been recently proposed as an access technology for individuals with disabilities, but body functions and structures pertinent to its use have not been documented. Seven clients (2 adults, 5 youth) with severe disabilities and their primary caregivers participated in this study. All clients had a Gross Motor Functional…

This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

Aim: General developmental outcome is known to be good in school-aged children who experienced febrile seizures. We examined cognitive and behavioural outcomes in preschool children with febrile seizures, including language and executive functioning outcomes. Method: This work was performed in the Generation R Study, a population-based cohort…

Mutations in presenilin 2 are rare causes of early onset familial Alzheimer's disease. Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic. Much remains to be learned about the range of phenotypes associated with these mutations. We have analysed our unique collection of 146 affected cases in 11…

Gene therapy using recombinant adeno-associated viral vectors overexpressing neuropeptide Y in the hippocampus exerts seizure-suppressant effects in rodent epilepsy models and is currently considered for clinical application in patients with intractable mesial temporal lobe epilepsy. Seizure suppression by neuropeptide Y in the hippocampus is…

This study examined federal and state court decisions related to student Fourth Amendment rights following the "New Jersey v. T.L.O." ruling in 1985. There has been minimal research in judicial treatment of students' Fourth Amendment rights across regions of the country and less to what extent regional rulings implicitly or explicitly…

One of the most common and serious co-morbidities in patients with epilepsy is cognitive impairment. While early-life seizures are considered a major cause for cognitive impairment, it is not known whether it is the seizures, the underlying neurological substrate or a combination that has the largest impact on eventual learning and memory. Teasing…