Anna Losurdo

Heart rate and heart rate variability modification in chronic insomnia patients.

Chronic insomnia is highly prevalent in the general population, provoking personal distress and increased risk for psychiatric and medical disorders. Autonomic hyper-arousal could be a pathogenic mechanism of chronic primary insomnia. The aim of this study was to investigate autonomic activity in patients with chronic primary insomnia by means of heart rate variability (HRV) analysis. Eighty-five consecutive patients affected by chronic primary insomnia were enrolled (38 men and 47 women; mean age: 53.2 ± 13.6). Patients were compared with a control group composed of 55 healthy participants matched for age and gender (23 men and 32 women; mean age: 54.2 ± 13.9). Patients underwent an insomnia study protocol that included subjective sleep evaluation, psychometric measures, and home-based polysomnography with evaluation of HRV in wake before sleep, in all sleep stages, and in wake after final awakening. Patients showed modifications of heart rate and HRV parameters, consistent with increased sympathetic activity, while awake before sleep and during Stage-2 non-REM sleep. No significant differences between insomniacs and controls could be detected during slow-wave sleep, REM sleep, and post-sleep wake. These results are consistent with the hypothesis that autonomic hyper-arousal is a major pathogenic mechanism in primary insomnia, and confirm that this condition is associated with an increased cardiovascular risk.

Polysomnographic Findings and Clinical Correlates in Huntington Disease. A Cross-sectional Cohort Study.

STUDY OBJECTIVES To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). DESIGN Cross-sectional cohort study. SETTING Sleep laboratory. PATIENTS Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). INTERVENTIONS Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Berlins Questionnaire, interview for restless legs syndrome (RLS), questionnaire for REM sleep behavior disorder (RBD). Clinical evaluation: disease duration, clinical severity (unified Huntington disease motor rating scale [UHDMRS]), genetic tests. Laboratory-based full-night attended video-polysomnography (V-PSG). MEASUREMENTS AND RESULTS The duration of the disease was 9.4 ± 4.4 y, UHMDRS score was 55.5 ± 23.4, CAG repeats were 44.3 ± 4.1. Body mass index was 21.9 ± 4.0 kg/m(2). No patients or caregivers reported poor sleep quality. Two patients reported symptoms of RLS. Eight patients had an ESS score ≥ 9. Eight patients had high risk of obstructive sleep apnea. At the RBD questionnaire, two patients had a pathological score. HD patients, compared to controls, showed shorter sleep, reduced sleep efficiency index, and increased arousals and awakenings. Four patients presented with sleep disordered breathing (SDB). Periodic limb movements (PLMs) during wake and sleep were observed in all patients. No episode of RBD was observed in the V-PSG recordings, and no patients showed rapid eye movement (REM) sleep without atonia. The disease duration correlated with ESS score (P < 0.02). UHMDRS correlated positively with the ESS score (P < 0.005), and negatively with the percentage of REM sleep. CONCLUSIONS Patients with Huntington disease showed a severe sleep disruption and a high prevalence of periodic limb movements, but no evidence of sleep disordered breathing or REM sleep behavior disorder.

Sleep disordered breathing in children and adolescents with Chiari malformation type I.

STUDY OBJECTIVES Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. METHODS Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26 boys, mean age 10.3 ± 4.3, range: 3-18 years). All patients underwent neurological examination, MRI, and polysomnography (PSG). Otorhinolaryngologic clinical evaluation was performed in patients with polysomnographic evidence of sleep-related upper airway obstruction. RESULTS Mean size of the herniation was 9.5 ± 5.4 mm. Fourteen patients had syringomyelia, 5 had hydrocephalus, 31 presented neurological signs, 14 had epileptic seizures, and 7 reported poor sleep. PSG revealed SDB in 13 subjects. Patients with SDB, compared to those without SDB, had a higher prevalence hydrocephalus (p = 0.002), syringomyelia (p = 0.001), and neurological symptoms (p = 0.028). No significant difference was observed in age, gender, prevalence of epilepsy, and size of the herniation. Obstructive SDB was associated with syringomyelia (p = 0.004), whereas central SDB was associated with hydrocephalus (p = 0.034). CONCLUSIONS In our population of CM-I patients the prevalence of SDB was 24%, lower than that reported in literature. Moreover, our findings suggest that abnormalities in cerebrospinal fluid dynamics in CM-I, particularly syringomyelia and hydro-cephalus, are associated with SDB.

Improvement of obstructive sleep apneas caused by hydrocephalus associated with Chiari malformation Type II following surgery.

Chiari malformation (CM) is the downward herniation of the caudal part of the cerebellum and/or medulla oblongata into the spinal canal. It can alter several neurological functions, including respiratory control and upper airway motility, and can be the cause of sleep-disordered breathing (SDB). The authors describe a 6-year-old boy affected by CM Type II associated with myelomeningocele who showed symptoms indicative of severe airway obstruction during sleep. Polysomnography revealed severe obstructive sleep apnea syndrome (OSAS). Magnetic resonance imaging demonstrated herniation of the cerebellar tonsils and diffuse ventricular dilation with a large pseudocystic formation in the third ventricle. Surgical marsupialization of the cystic wall was performed, associated with ventriculocystostomy and endoscopic replacement of the ventricular catheter. Polysomnography repeated 2 months after surgery revealed a striking improvement in the sleep-related respiratory pattern. The pathogenesis of OSAS was probably referable to a combination of CM and elevated intracranial pressure. However, the striking improvement of symptoms after ventriculoatrial shunt placement suggested that hydrocephalus plays a major role in this condition. Assessment and effective treatment of SDB is crucial in the care of patients with CM.

Bilateral thalamic stroke transiently reduces arousals and NREM sleep instability

The vascularization of the human thalami is supplied by many perforating arteries, which exhibit complex distribution and many possible individual variations. One rare variant is the artery of Percheron that supplies the paramedian thalami bilaterally. Its ictal occlusion may result in a symmetric paramedian infarction, which generally leads to impairment of consciousness associated with hypersomnia. Our aim is to describe in detail sleep-wake schedules, sleep structure and microstructure in a 68-year-old patient with occlusion of Percherons artery. EEG monitoring, performed 24 h after the onset of symptoms, showed severe disruption of the sleep-wake cycle, with episodes of sleep and wakefulness recurring irregularly during day and night. Thalamic nuclei are part of the human arousal system; medial thalamic nuclei play a pivotal role in sleep regulation at different levels. A diagnosis of paramedian thalamic infarction should be considered in patients who present with recurrent episodes of unresponsiveness.

Rivastigmine for Refractory REM Behavior Disorder in Mild Cognitive Impairment.

BACKGROUND Mild Cognitive Impairment (MCI) and REM Behavior Disorder (RBD) are both associated with a degeneration of ponto-medullary cholinergic pathways. METHODS We conducted a placebo-controlled, cross-over pilot trial of Rivastigmine (RVT) in 25 consecutive patients with MCI, who presented RBD refractory to conventional first-line treatments (melatonin up to 5 mg/day and clonazepam up to 2 mg/day). RESULTS RVT treatment was followed by a significant reduction of RBD episodes when compared with placebo. CONCLUSIONS Our data suggest that, in MCI patients with RBD resistant to conventional therapies (muscle relaxants benzodiazepines or melatonin,) treatment with RVT may induce a reduction in the frequency of RBD episodes compared to placebo.

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2Author Response

Lam et al.1 studied the frequency of restless legs syndrome, excessive daytime sleepiness (EDS), and fatigue in 30 patients with myotonic dystrophy type 2 (DM2). They did not find obstructive sleep apnea (OSA) or REM sleep behavior disorder. The authors concluded that EDS may also be related to an intrinsic CNS disturbance in DM2. We found that OSA is the most frequent sleep-disordered breathing (SDB) in this disorder. By home-based cardiorespiratory monitoring, we found SDB in 6 …

Drug-resistant focal sleep related epilepsy: Results and predictors of surgical outcome

In this study we report the results of surgery in a large population of patients affected by drug-resistant focal sleep related epilepsy (SRE) and the identified prognostic factors. We conducted a retrospective analysis of a case series of 955 patients operated on for drug-resistant focal epilepsy from 1997 to 2009. Ninety-five patients with focal SRE and a follow-up of at least 2 years were identified. Presurgical, surgical and histopathological variables were analyzed. Risk of seizures recurrence was assessed by univariate and multivariate analysis. Mean age at epilepsy onset was 5.6 ± 4.9 years. MRI revealed a focal abnormality in 78.9% of cases. Sixty-two percent of patients required a Stereo-EEG investigation. The cortical resection involved the frontal lobe in 61.1% of cases, while in 38.9% an extrafrontal resection was performed. Focal cortical dysplasia (FCD) type II was the most frequent histopathological finding. Mean postoperative follow-up was 82.3 months. Seventy-three patients (76.8%) were in Engels class I. At univariate analysis, variables associated with a favorable outcome were: absence of Stereo-EEG investigation; positive MRI; complete removal of the epileptogenic zone (EZ); presence of FCD type II and FCD type IIb. A diagnosis of FCD type I was associated with postoperative recurrence of seizures. Multivariate analysis identified the complete removal of the EZ and FCD type I as independent predictors of a favorable and unfavorable outcome respectively. SRE can frequently originate outside the frontal lobe and a favorable surgical outcome is achieved in three-fourths of cases independently from the location of the EZ.

Sleep disordered breathing in a cohort of patients with sporadic inclusion body myositis.

OBJECTIVE The aims of the study were: (1) to evaluate subjective sleep quality and daytime sleepiness in patients affected by sporadic inclusion-body myositis (IBM); (2) to define the sleep and sleep-related respiratory pattern in IBM patients. METHODS Thirteen consecutive adult patients affected by definite IBM were enrolled, six women and seven men, mean age 66.2 ± 11.1 years (range: 50-80). Diagnosis was based on clinical and muscle biopsy studies. All patients underwent subjective sleep evaluation (Pittsburgh Sleep Quality Index, PSQI and Epworth Sleepiness Scale, ESS), oro-pharingo-esophageal scintigraphy, pulmonary function tests, psychometric measures, anatomic evaluation of upper airways, and laboratory-based polysomnography. Findings in IBM patients were compared to those obtained from a control group of 25 healthy subjects (13 men and 12 women, mean age 61.9 ± 8.6 years). RESULTS Disease duration was >10 years in all. Mean IBM severity score was 28.8 ± 5.4 (range 18-36). Dysphagia was present in 10 patients. Nine patients had PSQI scores ≥ 5; patients had higher mean PSQI score (IBM: 7.2 ± 4.7, CONTROLS: 2.76 ± 1.45, p=0.005); one patient (and no controls) had EES>9. Polysomnography showed that IBM patients, compared to controls, had lower sleep efficiency (IBM: 78.8 ± 12.0%, CONTROLS 94.0 ± 4.5%, p<0.001), more awakenings (IBM: 11.9 ± 11.0, CONTROLS: 5.2 ± 7.5, p=0.009) and increased nocturnal time awake (IBM: 121.2 ± 82.0 min., CONTROLS 46.12 ± 28.8 min., p=0.001). Seven Patients (and no controls) had polysomnographic findings consistent with sleep disordered breathing (SDB). CONCLUSION Data suggest that sleep disruption, and in particular SDB, might be highly prevalent in IBM. SIGNIFICANCE Data indicate that IBM patients have poor sleep and high prevalence of SDB.

Wake and Sleep EEG in Patients With Huntington Disease An eLORETA Study and Review of the Literature

The aim of the study was to evaluate the EEG modifications in patients with Huntington disease (HD) compared with controls, by means of the exact LOw REsolution Tomography (eLORETA) software. We evaluated EEG changes during wake, non–rapid eye movement (NREM) and rapid eye movement (REM) sleep. Moreover, we reviewed the literature concerning EEG modifications in HD. Twenty-three consecutive adult patients affected by HD were enrolled, 14 women and 9 men, mean age was 57.0 ± 12.4 years. Control subjects were healthy volunteers (mean age 58.2 ± 14.6 years). EEG and polygraphic recordings were performed during wake (before sleep) and during sleep. Sources of EEG activities were determined using the eLORETA software. In wake EEG, significant differences between patients and controls were detected in the delta frequency band (threshold T = ±4.606; P < .01) in the Brodmann areas (BAs) 3, 4, and 6 bilaterally. In NREM sleep, HD patients showed increased alpha power (T = ±4.516; P < .01) in BAs 4 and 6 bilaterally; decreased theta power (T = ±4.516; P < .01) in the BAs 23, 29, and 30; and decreased beta power (T = ±4.516; P < .01) in the left BA 30. During REM, HD patients presented decreased theta and alpha power (threshold T = ±4.640; P < .01) in the BAs 23, 29, 30, and 31 bilaterally. In conclusion, EEG data suggest a motor cortex dysfunction during wake and sleep in HD patients, which correlates with the clinical and polysomnographic evidence of increased motor activity during wake and NREM, and nearly absent motor abnormalities in REM.