Premature termination codon mutations in ABCA7 contribute to Alzheimer's disease risk in Belgian patients.

The ATP-Binding Cassette Subfamily A Member 7 gene (ABCA7) was identified as a risk gene for Alzheimer's disease (AD) in genome-wide association studies of large cohorts of late-onset AD (LOAD) patients. Extended resequencing of the ABCA7 coding regions identified mutations that lead to premature termination codons (PTC) and loss of function of ABCA7. PTC mutations were enriched in LOAD patients and were frequently present in patients with early-onset AD (EOAD).

Ten things every neurologist needs to know about neuropsychological assessments and interventions in people with epilepsy.

This paper describes 10 core features of a neuropsychological assessment with the aim of helping neurologists understand the unique contribution the evaluation can make within the wider context of diagnostic methods in epilepsy. The possibilities, limitations and cautions associated with the investigation are discussed under the following headings. (1) A neuropsychological assessment is a collaborative investigation.

Indications and expectations for neuropsychological assessment in epilepsy surgery in children and adults.

In our first paper in this series (Epilepsia 2015; 56(5): 674-681), we published recommendations for the indications and expectations for neuropsychological assessment in routine epilepsy care. This partner paper provides a comprehensive overview of the more specialist role of neuropsychological assessment in the pre and postoperative evaluation of epilepsy surgery patients. The paper is in two parts.

Indications and expectations for neuropsychological assessment in routine epilepsy care: Report of the ILAE Neuropsychology Task Force, Diagnostic Methods Commission, 2013-2017.

The International League Against Epilepsy (ILAE) Diagnostic Methods Commission charged the Neuropsychology Task Force with the job of developing a set of recommendations to address the following questions: (1) What is the role of a neuropsychological assessment? (2) Who should do a neuropsychological assessment? (3) When should people with epilepsy be referred for a neuropsychological assessment? and (4) What should be expected from a neuropsychological assessment? The recommendations have been broadly written for health care clinicians in established epilepsy settings as well as those setting up new services. They are based on a detailed survey of neuropsychological assessment practices across international epilepsy centers, and formal ranking of specific recommendations for advancing clinical epilepsy care generated by specialist epilepsy neuropsychologists from around the world. They also incorporate the latest research findings to establish minimum standards for training and practice, reflecting the many roles of neuropsychological assessment in the routine care of children and adults with epilepsy.

Proceedings of the 2013 annual meeting of the Fetal Alcohol Spectrum Disorders Study Group.

The 2013 Fetal Alcohol Spectrum Disorders Study Group (FASDSG) meeting was held in Orlando (Grand Cypress), FL with the theme "Developing Brain-Based Interventions for Individuals with Fetal Alcohol Spectrum Disorders." Children with fetal alcohol spectrum disorders have significant impairments in cognitive functioning and behavioral regulation skills, which lead to a lifetime of challenges for themselves and their families; thus, developing interventions that remediate or compensate for these deficits is of great importance. The conference included 2 keynote presentations, FASt data talks, award presentations, and updates by government agencies.

Abnormal sexual behavior during sleep.

Introduction: Automatic, uncontrolled, and unaware sexual behaviors during sleep have occasionally been described. The clinical and polysomnographic features of nocturnal sexual behavior allow it to be considered a distinct parasomnia named "sexsomnia". Recently, abnormal sexual behaviors during sleep have been evaluated in the forensic medical context because violent behaviors can be associated with this parasomnia.

Treatment of migraine attacks by compression of temporal superficial arteries using a device.

Background: We recently reported that prolonged compression of the scalp arteries blocks pain in a large percentage of migraine attacks. We aimed to determine whether the use of a simple device that compresses the temporal superficial arteries can ameliorate migraine pain.

Material/methods: Thirty consecutive patients (21 women, 9 men), who had positive effect with prolonged digital compression, were included in this study.

Scalp periarterial saline efficacy in migraine and relation to exploding and imploding headache.

We recently reported the possibility of blocking a migraine attack by prolonged compression of scalp arteries and by the injection of saline around them, suggesting a role of extracranial structures in migraine pain. This study attempts further characterisation of the effect of saline infiltration and the relationship of the response to headache characteristics. A total of 40 patients were examined for scalp artery tenderness (superficial temporal main trunk and frontal branch, and occipital) during migraine attacks.

Drug Insight: new drugs in development for Parkinson's disease.

For many years, levodopa has given most patients with Parkinson's disease excellent symptomatic benefit. This agent does not slow down the progression of the disease, however, and it can induce motor fluctuations and dyskinesias in the long term. The other available antiparkinsonian agents also have drawbacks, and as a consequence research into antiparkinsonian drugs is expected to take new and different directions in the coming years.

Neuropsychological effects of exposure to anticonvulsant medication in utero.

Objective: To investigate the long-term differential drug effects on cognitive functioning in school-aged children exposed to antiepileptic drugs (AEDs) in utero.

Methods: Mothers with epilepsy were recruited from specialist epilepsy clinics and obstetric clinics from the Liverpool and Manchester region. The mothers and their children were recruited without prior knowledge of their AED treatment during pregnancy or the health of the offspring.

Quality of life of people with epilepsy in Iran, the Gulf, and Near East.

Purpose: To study the impact of epilepsy and its treatment on the quality of life of people living in Iran and in countries in the Gulf and Near East.

Methods: Clinical, demographic, and psychosocial details were collected through the use of a self-completed questionnaire distributed to patients attending hospital outpatient clinics.

Results: Data were collected from 3,889 people with epilepsy from 10 countries.

Epilepsy surgery: patient-perceived long-term costs and benefits.

Purpose: The goal of this study was to assess the patient-perceived costs and benefits associated with the longer-term outcomes of epilepsy surgery in patients who underwent anterior temporal lobectomy or selective amygdalohippocampectomy.

Methods: Surgery patients who were assessed in 1997 were reassessed in 2003. Demographic, clinical, and psychosocial details were collected using a validated self-completion questionnaire.

The dos and don'ts of neuropsychological assessment in epilepsy.

Neuropsychologists have a significant role in the assessment, treatment, and rehabilitation of people with epilepsy. This includes providing an assessment of an individual's cognitive strengths and weaknesses with respect to being a candidate for the surgery program, detailing intellectual and memory impairments as part of a rehabilitation service, and documenting specific antiepileptic drug effects as part of routine clinical management. Each of these specific roles requires careful consideration with respect to the potential pitfalls they can present to the neuropsychologist.

Validation of the Wechsler Memory Scale-III in a population of people with intractable temporal lobe epilepsy.

The Wechsler Memory Scale-Third Edition (WMS-III) was developed to overcome the limitations of the Wechsler Memory Scale-Revised and is now routinely used for pre-surgical assessment of memory for patients considering elective surgery for the relief of temporal lobe epilepsy (TLE). We investigated the validity of this relatively new measure in a population of people with resistant TLE. The sample consisted of 99 patients with a diagnosis if TLE in which the epileptogenic focus was clearly identified and localised to either the right or left hemisphere.

People with epilepsy: what do they know and understand, and how does this contribute to their perceived level of stigma?

Understanding the factors that contribute to the process of stigmatization of those with epilepsy may be an important element in the management of this condition. This study was designed to determine the contribution of clinical, demographic, and psychosocial variables to the stigma of epilepsy in adults. More than 6000 adults from 10 European countries were surveyed.

The effects of adjunctive topiramate therapy on seizure severity and health-related quality of life in patients with refractory epilepsy---a Canadian study.

Although reduction in seizure frequency is the most common endpoint used to assess the antiepileptic efficacy, seizure frequency alone does not provide a complete picture of effectiveness, particularly in patients with refractory epilepsy. The aim of our study was to assess the effects of topiramate on seizure severity and health-related quality of life (HRQL), in addition to standard efficacy measures, in an open, multicentre, 6-month trial of patients with epilepsy uncontrolled on antiepileptic drugs other than topiramate. Two hundred and nine patients were enrolled and received topiramate for up to 6 months (initiated at 50 mg/day and titrated to a recommended dose of 200-400 mg/day) in addition to existing medication.

Cognitive and behavioural assessments in clinical trials: what type of measure?

This paper provides an overview of the types of neuropsychological and behavioural measures used in randomised controlled trials (RCTS) of antiepileptic drugs (AEDs) in patients with epilepsy. The results of previous systematic reviews are reported in respect of the methods used in clinical trials to assess cognitive and behavioural effects of AED treatment. There were 46 trials incorporating behavioural measures and 40 trials incorporating neuropsychological measures.

Measuring the impact of multiple sclerosis on psychosocial functioning: the development of a new self-efficacy scale.

Objective: To develop a scale to measure self-efficacy in neurologically impaired patients with multiple sclerosis and to assess the scale's psychometric properties.

Design: Cross-sectional questionnaire study in a clinical setting, the retest questionnaire returned by mail after completion at home.

Setting: Regional multiple sclerosis (MS) outpatient clinic or the Clinical Trials Unit (CTU) at a large neuroscience centre in the UK.

The stigma of epilepsy: a European perspective.

Purpose: To study the stigma of epilepsy in a European sample.

Methods: Clinical and demographic details and information about patient-perceived stigma was collected by using self-completed questionnaires mailed to members of epilepsy support groups.

Results: Stigma data were collected from >5,000 patients living in 15 countries in Europe.

Patients' understanding of and adjustment to epilepsy: interim findings from a European survey.

The purpose of the study was to discover how much European patients with epilepsy and their carers understand about epilepsy. This article reports the interim results for the first four European countries recruited to the study and includes data collected from 1,920 people with epilepsy and 2,136 carers. Clinical and demographic details and data on understanding of epilepsy were collected using self-completed questionnaires mailed to members of epilepsy support groups.

Non-epileptic attack disorder (NEAD): a comprehensive review.

Non-epileptic attack disorder (NEAD) represents a well-recognized clinical problem with a reported incidence among individuals with a diagnosis of intractable epilepsy as high as 36%. A failure to identify this disorder may lead to certain risks for the patient including polypharmacy, anticonvulsant toxicity, hazardous intervention, social and economic demands and a lack of recognition or neglect of any underlying psychological distress. This review provides a description of NEAD in an historic and societal context and discusses the variety of terminology which has been applied to this psychophysiological phenomenon.

Liverpool Seizure Severity Scale revisited.

The purpose of the study was to examine the psychometric properties of the revised Liverpool Seizure Severity Scale. The scale has been adapted to increase its content validity and its potential for detecting change attributable to antiepileptic drug treatment. Ninety-seven patients completed the revised scale of which 32 completed it for both major and minor seizures.