The Usefulness of Nap Sleep Recording During Routine Electroencephalography: An Audit Study.

OBJECTIVES: A measure to increase the electroencephalogram (EEG) outcome includes a short period of nap sleep during a routine standard EEG with the aim of increasing its sensitivity to interictal abnormalities or provoking seizures. As part of an ongoing auditing of our EEG data, we aimed to investigate the contribution of nap sleep during routine outpatient department based EEGs requested for a variety of reasons. METHODS: EEG data at the Department of Clinical Physiology at Sultan Qaboos University Hospital, Oman, from July 2006 to December 2007 and from January 2009 to December 2010 (total 42 months) were reviewed. The EEGs were for patients older than 13-years referred for possible epilepsy, blackouts, headache, head trauma, and other non-specified attacks. The recording period was between 20 to 40 minutes. Abnormalities were identified during waking and nap sleep periods. RESULTS: A total of 2 547 EEGs were reviewed and 744 were abnormal (29.2%). Of those abnormal EEGs, nap sleep was obtained in 258 (34.7%) EEGs, and 39 (15.1%) showed abnormalities during nap sleep. Nineteen out of the 39 (48.7%) EEGs were abnormal during awake and nap sleep; and 20 (51.3%) were abnormal during nap sleep, which represented only 2.7% of the total abnormal EEGs (n = 744). CONCLUSIONS: The contribution of the short nap sleep to the pickup rate of interictal abnormalities in EEG was minimal. We recommend the EEG service to include one cycle of spontaneous sleep EEG directed at patients with a history suggestive of epilepsy if their awake EEGs are normal.

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype-phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc.

Who to target in sudden unexpected death in epilepsy prevention and how? Risk factors, biomarkers, and intervention study designs.

The risk of dying suddenly and unexpectedly is increased 24- to 28-fold among young people with epilepsy compared to the general population, but the incidence of sudden unexpected death in epilepsy (SUDEP) varies markedly depending on the epilepsy population. This article first reviews risk factors and biomarkers for SUDEP with the overall aim of enabling identification of epilepsy populations with different risk levels as a background for a discussion of possible intervention strategies. The by far most important clinical risk factor is frequency of generalized tonic-clonic seizures (GTCS), but nocturnal seizures, early age at onset, and long duration of epilepsy have been identified as additional risk factors. Lack of antiepileptic drug (AED) treatment or, in the context of clinical trials, adjunctive placebo versus active treatment is associated with increased risks. Despite considerable research, reliable electrophysiologic (electrocardiography [ECG] or electroencephalography [EEG]) biomarkers of SUDEP risk remain to be established. This is an important limitation for prevention strategies and intervention studies. There is a lack of biomarkers for SUDEP, and until validated biomarkers are found, the endpoint of interventions to prevent SUDEP must be SUDEP itself. These interventions, be they pharmacologic, seizure-detection devices, or nocturnal supervision, require large numbers. Possible methods for assessing prevention measures include public health community interventions, self-management, and more traditional (and much more expensive) randomized clinical trials.

The Correlation between Electroencephalography Amplitude and Interictal Abnormalities: Audit study.

OBJECTIVES: The aim of this study was to establish the relationship between background amplitude and interictal abnormalities in routine electroencephalography (EEG). METHODS: This retrospective audit was conducted between July 2006 and December 2009 at the Department of Clinical Physiology at Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. A total of 1,718 electroencephalograms (EEGs) were reviewed. All EEGs were from patients who had been referred due to epilepsy, syncope or headaches. EEGs were divided into four groups based on their amplitude: group one ≤20 µV; group two 21-35 µV; group three 36-50 µV, and group four >50 µV. Interictal abnormalities were defined as epileptiform discharges with or without associated slow waves. Abnormalities were identified during periods of resting, hyperventilation and photic stimulation in each group. RESULTS: The mean age ± standard deviation of the patients was 27 ± 12.5 years. Of the 1,718 EEGs, 542 (31.5%) were abnormal. Interictal abnormalities increased with amplitude in all four categories and demonstrated a significant association (P <0.05). A total of 56 EEGs (3.3%) had amplitudes that were ≤20 µV and none of these showed interictal epileptiform abnormalities. CONCLUSION: EEG amplitude is an important factor in determining the presence of interictal epileptiform abnormalities in routine EEGs. This should be taken into account when investigating patients for epilepsy. A strong argument is made for considering long-term EEG monitoring in order to identify unexplained seizures which may be secondary to epilepsy. It is recommended that all tertiary institutions provide EEG telemetry services.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope. RESULTS: Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype. CONCLUSIONS: The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant.

Pre-ictal autonomic changes.

Autonomic measures frequently alter with seizure activity and with brain state and so theoretically, there could be pre-ictal changes in autonomic function. However, there are considerable confounders. First, the measurement of autonomic function is not straightforward; heart rate and measures derived form heart rate have been those that have used the most in assessing changes in autonomic function. Second, autonomic function can vary considerably over the 24h cycle and can change suddenly depending on internal and external stimuli (e.g. fear, pain) and so any measures of changes in autonomic function will lose specificity. Third, changes in autonomic function in response to seizures, depends upon the individual, seizure type and spread of the seizure and even then can vary from seizure to seizure in the same individual. The idea that there will be well-defined, unique autonomic changes that occur in the pre-ictal period is very unlikely. These factors make it unlikely that autonomic function monitoring can be used successfully as a means of seizure prediction. However, in sleep, changes in autonomic function relate to changes in arousal state and since such states and the transition between such states may predict seizure occurrence in certain individuals, autonomic function could be a helpful determinant of seizure risk at certain stages of sleep. This hypothesis has, however, yet to be tested.