A. Zaniboni

Encephalopathy with electrical status epilepticus during slow sleep or ESES syndrome including the acquired aphasia

Encephalopathy with electrical status epilepticus during sleep or ESES is an age-dependent and self-limited syndrome whose distinctive features include a characteristic age of onset (with a peak around 4-5 years), heterogeneous seizures types (mostly partial motor or unilateral seizures during sleep and absences or falls while awake), a typical EEG pattern (with continuous and diffuse paroxysms occupying at least 85% of slow wave sleep) and a variable neuropsychological regression consisting of IQ decrease, reduction of language (as in acquired aphasia or Landau-Kleffner syndrome), disturbance of behaviour (psychotic states) and motor impairment (in the form of ataxia, dyspraxia, dystonia or unilateral deficit). Despite the long-term favourable outcome of epilepsy and status epilepticus during sleep (SES), the prognosis is guarded because of the persistence of severe neuropsychological and/or motor deficits in approximately half of the patients. No specific treatment has been advocated for this syndrome, but valproate sodium, benzodiazepines and ACTH have been shown to control the seizures and the SES pattern in many cases, although often only temporarily. Subpial transection is proposed in some instances as in non-regressive acquired aphasia. Recent data support the concept that ESES syndrome may include a large subset of developmental or acquired regressive conditions of infancy.

Association of restless legs syndrome with nocturnal eating: a case-control study.

We investigated the prevalence of nocturnal eating (sleep‐related eating disorder—SRED or night‐eating syndrome—NES) in patients with restless legs syndrome (RLS). One hundred RLS patients living in Emilia‐Romagna (Northern Italy) and 100 matched controls randomly selected from the general population received two telephone interviews, and were investigated for socio‐demographic characteristics, general health status, and presence of nocturnaleating. Additionally, subjects underwent interviews for psychopathological traits [by means of the Eating Disorder Inventory‐2 (EDI‐2), the Maudsley Obsessive‐Compulsive Inventory (MOCI), the Beck Depression Inventory (BDI)], excessive daytime sleepiness (EDS), and subjective sleep quality. Compared with controls, RLS patients had more frequently pathological MOCI scores (24% versus 10%, P = 0.03), used significantly more drugs for concomitant diseases and had more nocturnal sleep impairment and EDS. SRED was more prevalent in RLS patients than controls (SRED: 33% versus 1%, P < 0.001). Medication use and pathological MOCI scores were more prevalent in RLS patients with SRED than among RLS patients without SRED. Use of dopaminergic or hypnotic drugs for RLS was not correlated with the presence of SRED. We demonstrate an association between RLS and SRED. Prospective studies are needed to establish the mechanisms underlying such association and whether it is causal.

Interobserver Reliability of Video Recording in the Diagnosis of Nocturnal Frontal Lobe Seizures

Summary:  Background: Nocturnal frontal lobe seizures (NFLS) show one or all of the following semeiological patterns: (1) paroxysmal arousals (PA: brief and sudden recurrent motor paroxysmal behavior); (2) hyperkinetic seizures (HS: motor attacks with complex dyskinetic features); (3) asymmetric bilateral tonic seizures (ATS: motor attacks with dystonic features); (4) epileptic nocturnal wanderings (ENW: stereotyped, prolonged ambulatory behavior).

Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms

Objectives: Little is known about the long term outcome of patients with periventricular nodular heterotopia (PNH) and epilepsy, particularly the course of seizures. This study investigated the electroclinical and prognostic features of 16 patients with PNH. Methods: Of 120 patients with epilepsy and malformations of cortical development, 16 had PNH. Of these, eight patients had periventricular nodules only (simple PNH) and eight also presented with other cortical or cerebral malformations (subcortical heterotopia; polymicrogyria; focal dysplasia; schizencephaly; cortical infolding; agenesis of the corpus callosum; mega cisterna magna and cerebellar atrophy) (PNH plus). All patients underwent clinical, neurophysiological, and MRI investigation. The mean follow up was 17.3 years (2–40 years). Results: Two electroclinical patterns emerged: (1) The first pattern, associated with simple PNH, was characterised by normal intelligence and seizures, usually partial, which began during the second decade of life. The seizures never became frequent and tended to disappear or become very rare. The EEG showed focal abnormalities. (2) The second pattern, associated with PNH plus, was characterised by mental retardation and seizures that began during the first decade of life. The seizures were very frequent in most cases and sudden drops were observed in six patients. Seizures were medically refractory in four patients. The EEG showed focal and bisynchronous abnormalities. Conclusions: Two groups of PNH patients with different electroclinical and neuroradiological features can be identified after a long term follow up. The presence of other types of cortical or cerebral malformations, in addition to periventricular nodules, determines a poor prognosis.

A wavelet-based energetic approach for the analysis of biomedical signals: Application to the electroencephalogram and electro-oculogram

Wavelet transform has emerged over recent years as a favoured tool for the investigation of biomedical signals, which are highly non-stationary by their nature. A relevant wavelet-based approach in the analysis of biomedical signals exploits the capability of wavelet transform to separate the signal energy among different frequency bands (i.e., different scales), realizing a good compromise between temporal and frequency resolution. The rationale of this paper is twofold: (i) to present a mathematical formalization of energy calculation from wavelet coefficients, in order to obtain uniformly time distributed atoms of energy across all the scales; (ii) to show two different applications of the wavelet-based energetic approach to biomedical signals. One application concerns the study of epileptic brain electrical activity, with the aim of identifying typical patterns of energy redistribution during the seizure. Results obtained from this method provide interesting indications on the complex spatio-temporal dynamics of the seizure. The other application concerns the electro-oculographic tracings, with the purpose of realizing an automatic detector of a particular type of eye movements (slow eye movements), important to identify sleep phases. The algorithm is able to identify this eye movement pattern efficiently, characterizing it in rigorous energetic terms. The energetic approach built within the framework of the multiresolution decomposition appears as a powerful and versatile tool for the investigation and characterization of transient events in biomedical signals.

Interobserver reliability of ICSD–R minimal diagnostic criteria for the parasomnias

AbstractObjectiveTo estimate the interobserver reliability (IR) of the minimal diagnostic criteria for the parasomnias provided in the International Classification of Sleep Disorders Revised (ICSD–R).MethodsFifty consecutive subjects underwent a structured interview by three doctors based on the ICSD–R minimal criteria for the diagnosis of 13 parasomnias at any time in life. IR was calculated by Kappa statistics and interpreted according to conventional categories.ResultsIn the group of Arousal Disorders, IR was “substantial” (kappa 0.74) for confusional arousals, “slight” (kappa 0.36) for sleepwalking, “fair” (kappa –0.02) for sleep terrors. In the group of Wake–Sleep Transition Disorders, IR was “substantial” to “almost perfect”, but “moderate” for sleep starts (kappa 0.41). In the group of Parasomnias usually associated with REM Sleep, IR was “substantial” (kappa 0.69) for sleep paralysis, “moderate” (kappa 0.46) for RBD, “fair” (kappa 0.25) for nightmares. In the group of Other Parasomnias, IR was “substantial” to ”almost perfect” (kappa between 0.73 and 0.93).ConclusionsWhen the clinical diagnosis of parasomnias is based on the ICSD–R: 1) the majority of Arousal Disorders and REM sleep parasomnias showed only a “fair” to “moderate” IR; 2) all of the other parasomnias showed a ”substantial” to “almost perfect” IR. Nosological entities with unsatisfactory IR share complex motor phenomenology associated with a mental state difficult for the patient to define. The source of disagreement probably lies in the difficulty in interpreting patients’ reports. For these parasomnias IR must be verified and possibly improved with training.

Visual and computer-based detection of slow eye movements in overnight and 24-h EOG recordings.

OBJECTIVE The present work aimed to evaluate the performance of an automatic slow eye movement (SEM) detector in overnight and 24-h electro-oculograms (EOG) including all sleep stages (1, 2, 3, 4, REM) and wakefulness. METHODS Ten overnight and five 24-h EOG recordings acquired in healthy subjects were inspected by three experts to score SEMs. Computerized EOG analysis to detect SEMs was performed on 30-s epochs using an algorithm based on EOG wavelet transform, recently developed by our group and initially validated by considering only pre-sleep wakefulness, stages 1 and 2. RESULTS The validation procedure showed the algorithm could identify epochs containing SEM activity (concordance index k=0.62, 80.7% sensitivity, 63% selectivity). In particular, the experts and the algorithm identified SEM epochs mainly in pre-sleep wakefulness, stage 1, stage 2 and REM sleep. In addition, the algorithm yielded consistent indications as to the duration and position of SEM events within the epoch. CONCLUSIONS The study confirmed SEM activity at physiological sleep onset (pre-sleep wakefulness, stage 1 and stage 2), and also identified SEMs in REM sleep. The algorithm proved reliable even in the stages not used for its training. SIGNIFICANCE The study may enhance our understanding of SEM meaning and function. The algorithm is a reliable tool for automatic SEM detection, overcoming the inconsistency of manual scoring and reducing the time taken by experts.

Increased prevalence of nocturnal smoking in restless legs syndrome (RLS).

OBJECTIVE We investigated the prevalence of nocturnal smoking (NS) in patients with RLS. METHODS One hundred RLS patients living in Emilia-Romagna (Northern Italy) and 100 matched controls, randomly selected from the general population, underwent interviews for the presence of nocturnal smoking and for obsessive-compulsive traits, depression, excessive daytime sleepiness (EDS) and subjective sleep quality. RESULTS NS was more prevalent in RLS patients than controls (lifetime prevalence: 12% vs. 2%, P=0.012). Patients with NS had more frequently Sleep-Related Eating Disorders (SRED) than patients without NS (83.3% vs. 26.1%, P=0.0002). Pathological and borderline Maudsley Obsessive-Compulsive Inventory (MOCI) values as well as pathological values at the Beck Depression Inventory (BDI) increased from controls to RLS patients without NS to RLS patients with NS (P=0.005 and P=0.01, respectively). CONCLUSIONS We demonstrate an increased prevalence of NS in patients with RLS, in many cases associated with increased SRED. NS may be associated with psychopathological traits in RLS and may be relevant in the management of RLS patients.

A video-polygraphic analysis of the cataplectic attack.

OBJECTIVES AND METHODS To perform a video-polygraphic analysis of 11 cataplectic attacks in a 39-year-old narcoleptic patient, correlating clinical manifestations with polygraphic findings. Polygraphic recordings monitored EEG, EMG activity from several cranial, trunk, upper and lower limbs muscles, eye movements, EKG, thoracic respiration. RESULTS Eleven attacks were recorded, all of them lasting less than 1 min and ending with the fall of the patient to the ground. We identified, based on the video-polygraphic analysis of the episodes, 3 phases: initial phase, characterized essentially by arrest of eye movements and phasic, massive, inhibitory muscular events; falling phase, characterized by a rhythmic pattern of suppressions and enhancements of muscular activity, leading to the fall; atonic phase, characterized by complete muscle atonia. Six episodes out of 11 were associated with bradycardia, that was maximal during the atonic phase. CONCLUSIONS Analysis of the muscular phenomena that characterize cataplectic attacks in a standing patient suggests that the cataplectic fall occurs with a pattern that might result from the interaction between neuronal networks mediating muscular atonia of REM sleep and neural structures subserving postural control.

Sleep-related faciomandibular myoclonus: A sleep-related movement disorder different from bruxism.

We describe a 33‐year‐old man who presented with lip and tongue nibbling and bleeding during sleep. Videopolysomnography revealed myoclonic jerks involving the masticatory and facial muscles recurring mainly during NREM sleep. There was no tonic EMG masticatory activity typical of bruxism. EMG analysis demonstrated the recruitment of V‐ to VII innervated muscles and, in half of the episodes, also the sternocleidomastoideus. Our patient had sleep‐related faciomandibular myoclonus (SFMM) with spontaneous jerks of oromasticatory and cervical muscles, occurring only during sleep. Tooth grinding, temporomandibular joint pain, abnormal tooth mobility, tooth wear, and other dental problems were clinically absent. We propose that, on the basis of the clinical and EMG features, SFMM may be considered a distinct disorder and different from sleep bruxism.