Abstract: STUDY OBJECTIVES: To test the reliability of a driving-simulation test for the objective measurement of daytime alertness compared with the Multiple Sleep Latency Test (MSLT) and with the Maintenance of Wakefulness Test (MWT), and to test the ability to drive safely, in comparison with on-road history, in the clinical setting of untreated severe obstructive sleep apnea. DESIGN: N/A. SETTING: Sleep laboratory. PATIENTS OR PARTICIPANTS: Twenty-four patients with severe obstructive sleep apnea and reported daytime sleepiness varying in severity (as measured by the Epworth Sleepiness Scale). INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Patients underwent MSLT and MWT coupled with 4 sessions of driving-simulation test on 2 different days randomly distributed 1 week apart. Simulated-driving performance (in terms of lane-position variability and crash occurrence) was correlated with sleep latency on the MSLT and more significantly on the MWT, showing a predictive validity toward the detection of sleepy versus alert patients with obstructive sleep apnea. In addition, patients reporting excessive daytime sleepiness or a history of car crashes showed poorer performances on the driving simulator. CONCLUSIONS: A simulated driving test is a suitable tool for objective measurement of daytime alertness in patients with obstructive sleep apnea. Further studies are needed to clarify the association between simulated-driving performance and on-road crash risk of patients with sleep disordered breathing.
Abstract: In recent years, sleep medicine has evolved into a full-grown discipline, featuring a multidisciplinary approach to diagnosis and treatment of patients with sleep disorders. Sleep medicine cuts across the boundaries of different conventional disciplines and is therefore open to medical and non-medical professionals with different specialty backgrounds. The aim of the current paper is to introduce a qualification for those professionals whose main occupation is to practice sleep medicine in the setting of a sleep medicine centre. The drafting of guidelines dealing with requirements for such qualification was entrusted to a task force by the European Sleep Research Society. The guidelines are the result of a progressive consensus procedure in which standards were defined for education, training, and evaluation. The final step along this pathway is a theoretical and practical examination, providing proof of proficiency in the field of sleep medicine. This paper describes the object of specific competences, the scope of sleep medicine, and the qualification procedures that pertain to three professional categories: medical specialists, non-medical professionals with a university master degree (such as psychologists and biologists), and nurses and technologists. Indices of preceding practical experience and theoretical knowledge are presented in Appendices 1 and 2. These guidelines are a European standard. They may be adapted in the future according to new scientific insights. National certification programs that comply with these guidelines may be subject to homologation by the ESRS.
Abstract: BACKGROUND: Sleepiness related car accidents are common in obstructive sleep apnoea syndrome (OSAS) patients. The objective measurements of sleepiness used in clinical setting quantify the tendency to fall asleep in quiet situations that are completely different from driving. METHODS: We studied 30 OSAS patients with subjective (subjective sleepiness scales) and objective (multiple sleep latency test, MSLT) sleepiness measurements, associated with driving simulation test (DST), previously validated in young healthy subjects. The results of subjective and objective sleepiness tests were compared with simulated driving performance in order to evaluate the suitability of our DST for measuring alertness. RESULTS: Subjective and objective sleepiness measurements were significantly correlated with driving performance on the simulator. The most significant correlates of sleepiness were the measures of the primary vehicle control task on the simulator: lane position variability and crash data. The comparison of DST and MSLT results suggested our driving simulated approach could be used to evaluate daytime sleepiness in the clinical setting of OSAS patients. CONCLUSIONS: Our DST is a suitable objective tool to detect sleepiness in OSAS patients, and could be useful in the clinical setting of sleep medicine and research.
Abstract: Sleep disturbance and excessive daytime sleepiness have been reported in patients with hepatic cirrhosis. The objective of this study was to evaluate daytime somnolence and sleep complaints in a group of 178 patients with cirrhosis compared to a control group. Sleep features and excessive daytime sleepiness were evaluated by the Basic Nordic Sleep Questionnaire (BNSQ) and the Epworth Sleepiness Scale (ESS). We collected clinical and laboratory data, neurological assessment and EEG recordings in cirrhotic patients. Patients with cirrhosis complained of more daytime sleepiness (p<0.005), sleeping badly at least three times a week (p<0.005), difficulties falling asleep (p<0.01) and frequent nocturnal awakening (p<0.005) than controls. We found a poor correlation between sleep disorders and clinical or laboratory parameters. Our results confirm previous literature reports suggesting a high prevalence of sleep disturbance in patients with cirrhosis. Insomnia and daytime sleepiness are the main complaints. Sleep disorders are probably a multifactorial phenomenon.
Abstract: STUDY OBJECTIVES: To verify the existence of a symptomatic form of restless legs syndrome (RLS) secondary to multiple sclerosis (MS) and to identify possible associated risk factors. DESIGN: Prospective, multicenter, case-control epidemiologic survey. SETTINGS: Twenty sleep centers certified by the Italian Association of Sleep Medicine. PATIENTS: Eight hundred and sixty-one patients affected by MS and 649 control subjects. INTERVENTIONS: N/A. MEASURES AND RESULTS: Data regarding demographic and clinical factors, presence and severity of RLS, the results of hematologic tests, and visual analysis of cerebrospinal magnetic resonance imaging studies were collected. The prevalence of RLS was 19% in MS and 4.2% in control subjects, with a risk to be affected by RLS of 5.4 (95%confidence interval: 3.56-8.26) times greater for patients with MS than for control subjects. In patients with MS, the following risk factors for RLS were significant: older age; longer MS duration; the primary progressive MS form; higher global, pyramidal, and sensory disability; and the presence of leg jerks before sleep onset. Patients with MS and RLS more often had sleep complaints and a higher intake of hypnotic medications than patients with MS without RLS. RLS associated with MS was more severe than that of control subjects. CONCLUSIONS: RLS is significantly associated with MS, especially in patients with severe pyramidal and sensory disability. These results strengthen the idea that the inflammatory damage correlated with MS may induce a secondary form of RLS. As it does in idiopathic cases, RLS has a significant impact on sleep quality in patients with MS; therefore, it should be always searched for, particularly in the presence of insomnia unresponsive to treatment with common hypnotic drugs.
Abstract: BACKGROUND AND PURPOSE: To carry out an observational epidemiological survey (Studio Morfeo 2) in order to define the management procedures of insomnia in a large Italian population presenting directly to the general practitioner (GP). PATIENTS AND METHODS: Each GP recruited five insomniac subjects in the course of 1 week or 5 consecutive office days over a period of 2 weeks. On each office day, a brief questionnaire (Q1) including five questions investigating insomnia symptoms and current use of treatment was administered to the first 10 patients who referred to the GP office for reasons associated with their own health. The first patient of each day classified as insomniac underwent a second investigation based on a more detailed questionnaire (Q2) including demographic variables, socio-economic status, general medical conditions, severity, duration and clinical features of insomnia, daytime dysfunction, sleep satisfaction and therapeutic management. RESULTS: In a primary care setting, insomnia symptoms are often persistent (>1 year), recurrent (>1/week) and accompanied by daytime consequences. Two out of three patients with insomnia symptoms are dissatisfied with their sleep. In most cases, insomnia symptoms are underrated both by the patients, who cover the problem or reject treatment, and by the GP, who limits intervention on the sleep disorder (scarcely modifying ongoing therapy both in responders and in non-responders). In responders, treatment was confirmed in 91% of cases and discontinued in only 2%. When there was no improvement, or if insomnia symptoms became worse (non-responders), treatment was nevertheless continued in 74.5% of cases, either maintaining the same ineffective dose, increasing the dose, or adding another drug or a non-pharmacological procedure. Regardless of specific medication, the Italian GP privileges the pharmacological approach, which is fourfold more frequent than non-pharmacological therapy (78.6 versus 18.2%). Non-benzodiazepine hypnotic drugs are mostly prescribed when the GP decides to apply medication in previously untreated patients with insomnia symptoms. Self-administration is not unusual among the patients with insomnia symptoms and is more common among non-responders. CONCLUSIONS: Italian GPs tend to confirm the ongoing therapy and avoid re-evaluation of the treatment regimen. Limited use of non-pharmacological treatment in the Italian primary care setting is in line with this conservative approach of the GPs who tend to be problem-solvers rather than problem-seekers.
Abstract: BACKGROUND: The ability of negative expiratory pressure (NEP) technique to differentiate between awake snorers with and without obstructive sleep apnea-hypopnea (OSAH) was investigated. METHODS: Forty-eight subjects with sleep disordered breathing (SDB) and 7 healthy subjects, as non-snorer controls, underwent the NEP application of -5 and -7 cmH2O in the seated and supine position during wakefulness, after performing a sleep study. The upper airway collapsibility was assessed by computing the volume exhaled during the first 0.5 sec. (V,NEP0.5) and 1 sec. (V,NEP1) following the NEP start. RESULTS: Patients with severe (AHI > or = 30) (n = 19) and mild-to-moderate (AHI <30 and >5) (n = 15) OSAH had lower V,NEP0.5 (340 +/- 88 ml) as compared to snorers (AHI < or = 5) (n = 14) (427 +/- 101 ml; p < 0.01) and controls (n = 7) (492 +/- 69 ml; p < 0.001) in the supine position with NEP -5 cmH2O. Less significant differences among the different groups were observed for V,NEP0.5 in the seated position with NEP -5 cmH2O and in both positions with NEP -7 cmH2O (only OSAH patients vs controls, p < 0.001). Similar results were obtained for V,NEP1 in either position by using both NEP -5 cmH2O and -7 cmH2O. In spite of this, a substantial overlapping of V,NEP0.5 and V,NEP1 between snorers and OSAH patients did not allow to identify a reliable diagnostic cut-off level. An inverse correlation with AHI was found for V,NEP0.5 in the supine position with NEP -5 cmH2O (rs = -0.46, p < 0.05) in severe OSAH patients. CONCLUSION: The awake OSAH patients exhibit values of V,NEP0.5 and V,NEP1 lesser than those of awake snorers. The NEP technique, however, appears to have a limited usefulness as clinical tool for routine screening of the OSAH patients during wakefulness.
Abstract: Insomnia is an extremely common condition with major social and economic consequences worldwide. Two large epidemiological studies (Morfeo 1 and Morfeo 2) recently performed in Italy provided much-needed novel data on the impact of insomnia in patients whose primary healthcare is provided by general practitioners (GPs). These studies found that insomnia is managed relatively well by GPs in Italy, although diagnosis and treatment can be compromised because of the lack of standardised criteria. Although a number of consensus reports on insomnia have been published, these are mainly highly specific documents that are difficult to implement in general practice. To address this, a consensus group involving 695 GPs and over 60 specialists from the Italian Association of Sleep Medicine was established. The major objectives of the consensus study were to establish basic knowledge for the diagnosis and treatment of insomnia, and to produce guidelines for the management of insomnia by GPs. This is the first time that GPs have been directly involved in producing insomnia guidelines of this type, and this approach reflects their pivotal role in the diagnosis and management of this condition. Participants were carefully selected to ensure adequate representation of sleep specialists and GPs, with the group being headed by a steering committee and an advisory board. Guideline statements were selected following careful literature review and were voted on using formalised consensus procedures. This review describes current views on the diagnosis and management of insomnia from the perspective of the GP. In addition, the results of the consensus study are presented. They include recognition of the following principles: (i) insomnia is a genuine pathology that must be appropriately diagnosed and treated; (ii) when concomitant pathologies are present, additional significance should be given to treatment of insomnia since it can influence prognosis of coexistent disorders; (iii) appropriate treatment should consider the cause of insomnia as well as the characteristics of available pharmacological agents; (iv) with regard to hypnotic drugs, preference should be given to medications with a short half-life in order to limit residual effects; (v) non-benzodiazepine hypnotics are preferred to classic benzodiazepines as they have higher selectivity and present a lower risk of undesirable effects; (vi) tablets are preferable to liquid preparations as they are less likely to lead to dependence and to overdosing by the patient; and (vi) once treatment has been initiated, insomnia patients should be carefully followed up. These statements provide much needed criteria for better management of insomnia by GPs in Italy.
Abstract: A 21-year-old woman with acute lymphoblastic leukemia underwent bone marrow transplantation (BMT). The conditioning regimen consisted of an association of busulfan (BU) and cyclophosphamide (Cy). The day after starting BU, she suffered a generalized tonic-clonic seizure. Electroencephalography (EEG) performed the day after the seizure showed diffuse polyspikes and spike-and-wave discharges. EEG on the following days showed persistent abnormalities (slowing of background activity intermixed with diffuse slow waves and isolated delta and theta bursts). These abnormalities persisted for about 20 days with complete normalization one month after the seizure. We suggest that BU is implicated in these abnormalities and emphasize the importance of EEG recording before and after bone marrow transplantation to disclose BU neurotoxicity.
Abstract: The purpose of this study was to investigate the pattern of cognitive impairment in mild Alzheimer's disease (AD). We tested thirty patients (10 men and 20 women) with mini mental state examination (MMSE) scores between 20 and 24. The mental deterioration battery (MDB) was administered to all subjects. For each patient, the mean general score for the 4 verbal and the 4 non-verbal items were calculated, in order to verify the existence of a significant difference between them. In our sample the results showed that the difference between verbal and non-verbal items was not significant, i.e., the disease seems to affect both domains uniformly.
Abstract: BACKGROUND AND PURPOSE: To carry out an observational epidemiological survey (Studio Morfeo), to determine: (1) the frequency of insomnia in a large Italian population presenting directly to the general physician (GP); (2) the impact of insomnia on the quality of life, on the use of health-care resources and on co-morbidity. PATIENTS AND METHODS: The study was accomplished by GPs, trained by sleep specialists accredited by the Italian Association of Sleep Medicine. Only patients spontaneously presenting to their GP for medical problems were surveyed. Each GP was asked to enroll at least five patients across a routine week of medical activity including both morning and afternoon clinics. The first patient of each weekday was recruited after obtaining written consent. According to the responses to the sleep-related questions, patients were classified into three categories: (1) no insomnia, (2) level 1 insomnia with absence of day-time dysfunction and (3) level 2 insomnia with presence of day-time dysfunction. RESULTS: A total of 3284 patients were enrolled by 738 GPs in this Italian survey. Insomnia was reported by 64% of all interviewed patients, with 20% classified as level 1 and 44% as level 2. Logistic analysis indicated that depression (odds ratio, 2.70), involvement of >1 organ systems (odds ratio, 1.24), female gender (odds ratio, 1.19), unemployment (odds ratio, 1.18), low education (odds ratio, 1.18) and increasing age (odds ratio, 1.02) were the major risk factors for insomnia. CONCLUSIONS: Our findings indicate that insomnia is a frequent disturbance in the Italian primary care population, is associated with high risk of co-morbid conditions, and results in increased use of health-care resources.
Abstract: Driving Simulators reproduce situations that require tracking and visual searching, the main features of real driving. This study measured the reliability of a monotonous driving scenario to detect the circadian variations of alertness in healthy subjects. Five men and five women underwent a monotonous 30 min driving simulation task every 2 h. Before each driving task subjects completed the Stanford Sleepiness Scale (SSS) and the Visual Analogue Scale (VAS) to correlate the subjective measurements of sleepiness to the objective data of the simulator. Driving performances deteriorated or improved according to the circadian variation of alertness. The scenario is suitable to detect the consequences of sleepiness related to the circadian variations of alertness. The standard deviation of lane position, comparing the differences among the 10 min blocks in each task is the parameter most significant for the evaluation of sleepiness.
Abstract: Surgical treatment for retro-lingual obstruction in patients suffering from obstructive sleep apnea syndrome remains a problem for which there is no simple solution. The techniques most in use (tongue suspension, genioglossal advancement with hyoid suspension) are effective primarily as stabilization methods modifying neither tongue position, nor volume and only produce appreciable results when performed on non-overweight patients with respiratory disturbance index <40. For patients suffering from severe obstructive sleep apnoea syndrome in whom the most obvious morphological alteration is the presence of hypo-pharyngeal obstruction due to tongue base hypertrophy, who are overweight or suffering from moderate obesity, a surgical procedure aimed at reducing tongue volume and at repositioning the hyoid bone, even if invasive, leads to a favourable outcome. Herein, personal experience is described in a group of 8 patients presenting severe obstructive sleep apnoea syndrome incompatible with normal quality of life and normal life expectancy (mean respiratory disturbance index = 55.1) who underwent surgical resection of the tongue base with hyoepiglottoplasty. This technique, first described by Chabolle, differs radically from others inasmuch as it guarantees enlargement of the hypo-pharyngeal lumen and remodelling of the hyolingual complex. Using a suprahyoid cervical approach, it is possible to effect ample reduction of the tongue base with amplification of the hypo-pharyngeal airway without inducing problems as far as concerns either swallowing or speech.
Abstract: Sleepiness and driving is a dangerous combination that causes thousands of crashes each year resulting in injury and death. In the last few years, driving simulators have been used to study the performance decrements associated with drowsiness. We correlated performances of a driving simulation task in healthy volunteers in different alertness conditions with objective (MSLT: Multiple Sleep Latency Test) and subjective (SSS: Stanford Sleepiness Scale; VAS: Visual Analogue Scale) sleepiness measurements. The subjects were tested on two days, after a normal night of sleep and after a night of complete sleep deprivation. The study consists of four sessions of MSLT, each one followed by subjective measurements of sleepiness and by a 30 min driving simulation task with a monotonous driving scenario. The parameters that correlate most highly with MSLT are the standard deviation of lane position, the mean RT, crash frequency and exceeding the speed limit frequency. The monotonous driving simulation we adopted showed strong correlations with MSLT and subjective sleepiness scales in healthy subjects and is suitable to evaluate excessive daytime sleepiness in patients.
Abstract: Growing interest in sleep disorders has led to increased research in this direction. Increasingly sophisticated instrumental tests have disclosed new breathing patterns and complex syndromes. The initial identification of obstructive apneas was followed by studies characterizing snoring, hypopneas, respiratory effort-related arousal and flow limitation events. Since Pickwickian syndrome, an historical term currently deemed obsolete and confusing, sleep investigations have differentiated secondary hypoventilation, central hypoventilation and syndromes resulting from narrowing of the upper airways (snoring, upper airway resistance syndrome, obstructive sleep apnea-hypopnea syndrome). Inevitably, this has given rise to some confusion in the classification of events and syndromes which recent studies have attempted to clarify.
Abstract: BACKGROUND: Anterior spinal artery (ASA) syndrome results in motor palsy and dissociated sensory loss below the level of the lesion, accompanied by bladder dysfunction. When the cervical spine is involved, breathing disorders may be observed. OBJECTIVE: To describe the polysomnographic findings in a patient with cervical ASA syndrome complicated by a sleep breathing disorder. SETTING: Unit of neurology at a sleep center. Patient A 30-year-old man had an ischemic lesion that affected the anterior cervical spinal cord (C2-C6) bilaterally because of an ASA thrombosis. He developed ASA syndrome associated with respiratory impairment during sleep. RESULTS: The polysomnographic study during sleep showed a severe sleep disruption caused by continuous central apneas that appeared immediately after falling asleep. Treatment by intermittent positive pressure ventilation normalized the respiratory pattern and sleep architecture. CONCLUSIONS: The sleep breathing pattern was compatible with central alveolar hypoventilation due to automatic breathing control failure caused by a lesion of the reticulospinal pathway, which normally activates ventilatory muscles during sleep. This autonomic sleep breathing impairment resembles that found as a complication in patients who undergo spinothalamic tract cervical cordotomy for intractable pain. This surgical complication is known as the Ondine curse.
Abstract: BACKGROUND: The aim of this study is to evaluate the reliability of a self-administered questionnaire on leg discomfort and restlessness as a screening tool for restless legs syndrome (RLS) in a population of chronically dialyzed patients. METHODS: One hundred twenty-seven patients on chronic hemodialysis therapy filled in a self-administered questionnaire including 4 diagnostic questions for RLS and 12 subsequent questions on clinical characteristics of leg discomfort. Two neurologists trained in sleep medicine blinded to questionnaire answers evaluated all patients and diagnosed RLS according to criteria of the International Restless Legs Syndrome Study Group. We compared questionnaire results in terms of RLS diagnosis with direct patient evaluation performed by neurologists used as a gold standard. RESULTS: The questionnaire showed a low sensitivity and specificity and did not prove reliable for screening for RLS in uremic patients. False-positive results seem to be caused by the presence of other leg symptoms and neurological objective signs suggesting peripheral neuropathy; false-negative results may be caused by the moderate severity of leg discomfort and its poor appraisal. CONCLUSION: Our study suggests caution in evaluating results of questionnaires to screen for RLS in patients with chronic renal insufficiency on dialysis therapy.
Abstract: Neuronal potassium conductance has been shown to influence the sleep-wake cycle and REM sleep homeostasis. The periodic paralyses (PP) are characterized by episodes of muscular weakness associated with changes in serum potassium levels and, therefore, with possible alterations in extracellular neuronal potassium conductance. We submitted a sleep questionnaire to the members of Periodic Paralysis International Listserv, an on-line support and information group for subjects with PP. Three control groups were made up of patients with untreated depression, patients with depression under treatment and healthy subjects. Both subjects with PP and those with untreated depression had a higher frequency of self-reported insufficient sleep quality and a higher number of nocturnal awakenings than patients with depression under treatment and healthy controls. PP subjects had more self-reported daytime sleepiness, sleep-related hallucinations and nightmares/abnormal dreams than the other three groups. Patients affected by PP may have disrupted sleep architecture and homeostasis. In particular, we suggest that the stereotypical abnormal dreams reported by several patients may reflect oneiric elaboration of nocturnal episodes of flaccid paralysis, while the increased frequency of sleep-related hallucinations may be due to enhanced REM sleep expression associated with alterations of neuronal potassium conductance.
Abstract: BACKGROUND: Portable devices are used for unattended recording of patients with suspected obstructive sleep apnea syndrome (OSAS). The MESAM 4 (MAP; Martinsried, Germany) is a computerized ambulatory polysomnographic system that records four parameters: breathing noise, heart rate, arterial oxygen saturation (SaO(2)), and body position. Design and method: We evaluated the reliability of the oxygen desaturation index (ODI) automatically calculated by the MESAM 4 device in evaluating patients with "complicated" OSAS. These patients present SaO(2) drops due to apneas associated with a fall in baseline SaO(2) during sleep, as occurs in the "overlap syndrome." Ten patients with complicated OSAS underwent nocturnal MESAM 4 recordings, and we compared the visual and automatic scorings of the ODI. RESULTS: The ODI obtained with visual scoring was significantly higher than ODI automatically calculated by the MESAM 4 in all patients. In some patients, this difference was so significant that it could bias clinical judgment of OSAS severity. We demonstrated that the system did not identify those desaturation events that were superimposed on a fall in baseline SaO(2). The error depends on the algorithm by which the device recognizes the desaturation events and calculates the baseline SaO(2). CONCLUSION: Automatic analysis of MESAM 4 recordings may be misleading in evaluating OSAS patients who have a fall in baseline SaO(2) during sleep. In this case, visual scoring performed by a trained polysomnographer is recommended.
Abstract: Isolated Sleep Paralysis (SP) occurs at least once in a lifetime in 40-50% of normal subjects, while as a chronic complaint it is an uncommon and scarcely known disorder. A series of messages written by subjects who experienced at least one episode of SP, containing more or less detailed descriptions of this disorder, were collected from the Sleep Web site of the University of California in Los Angeles between January 1996 and July 1998. Two hundred and sixty-four messages fulfilling the International Classification of Sleep Disorders (ICSD) (Thorpy, 1990) minimal criteria for SP were analyzed. A wide spectrum of severity was evident, with a frequency of episodes ranging from one in a lifetime to almost every night, and a variety of emotional and hallucinatory experiences associated with SP episodes were reported. Clinical similarities between the recurrent form of isolated SP and channelopathies (in particular, periodic paralyses) are discussed. An activation of limbic system structures is suggested in order to explain some of the most common subjective experiences associated with SP.
Abstract: BACKGROUND: Gastric partitioning is a surgical procedure for the treatment of morbid obesity that may engender neurological complications, such as Wernicke encephalopathy and polyneuropathy. SETTING: A specialist hospital. PATIENT: A 36-year-old woman developed Wernicke-Korsakoff encephalopathy and polyneuropathy 3 months after gastroplasty for morbid obesity. A magnetic resonance scan documented the diagnosis, and a clear improvement occurred after parenteral thiamine treatment. In our patient and in previously described cases of the literature, postsurgical vomiting is a constant finding that seems to be the precipitating factor of neurological complications of gastric partitioning. CONCLUSION: Persistent vomiting after gastroplasty for morbid obesity should be considered an alarming symptom to treat immediately with appropriate measures.
Abstract: A 22 year old woman with central alveolar hypoventilation (CAH) underwent repeated nocturnal polysomnographic recordings to assess the efficacy of negative pressure ventilation (NPV) administered by pneumowrap. The NPV successfully prevented hypoxia during most of the recording time; however, a sudden severe hypoxic episode not related to an apnoea occurred during a recording night with NPV. This made home use advisable together with an ear oximeter fitted with an alarm.
Abstract: We wanted to investigate the natural evolution of Obstructive Sleep Apnoea Syndrome (OSAS). We therefore followed 58 patients who refused any treatment at the time of diagnosis. Of the eligible patients 32 subjects enrolled in instrumental follow-up. The effects on daytime somnolence, daytime lung function and nocturnal respiratory disturbances were retrospectively evaluated by repeating Multiple Sleep Latency Test (MSLT), spirometry and polysomnography after a follow-up period of at least 5 years (5.7 +/- 0.2 SEM yrs). In the patient group as a whole the mean Apnoea+Hypopnoea Index (AHI), the mean low arterial oxygen saturation (Sao2) and the mean Body Mass Index (BMI) did not change over time. The only significant differences were the increase in mean duration of apnoeas (21.0 vs 23.5 s) and hypopneas (13.5 vs 16.3 s) and the decrease in AHI < 80% (13.3 vs 7.9). No correlations were found between the changes in AHI or mean low Sao2 and age, BMI, AHI, mean low Sao2, pulmonary function tests or arterial blood gases at baseline. No significant changes were observed in systemic blood pressure, pulmonary function tests, blood gases analysis or MSLT. "Improved" (n = 6) and "worsened" (n = 7) groups were defined by a reduction or increase in AHI over 35% of baseline value. At baseline the "worsened" group tended to have lower AHI and higher mean low Sao2 compared with the "improved" group. In the "worsened" group the BMI rose significantly from 26.0 to 29.2, AHI rose significantly from 14.1 to 51.3 and mean low Sao2 decreased from 92 to 90 (NS).(ABSTRACT TRUNCATED AT 250 WORDS)
Abstract: Chest wall deformity due to kyphoscoliosis may present with two altered breathing patterns during sleep; 1) progressive O2 desaturation particularly during REM sleep and 2) central apnoea also during REM sleep but rarely accompanied by O2 desaturation. No typical breathing pattern abnormality is seen in the rigid spine syndrome.
Abstract: Three patients complained of paroxysmal motor attacks during sleep. Videopolygraphic recordings showed that motor activity could be divided into events of increasing behavioural complexity. Simpler motor events often represented the initial fragment of more complex attacks. Clinical features suggested the attacks represented frontal lobe epileptic seizures. The attacks recurred during NREM sleep with a periodic repetition every 20-60 sec. This periodicity could be related to the analogous physiological oscillation during light sleep and the periodicity of K complexes, exerting a facilitating influence upon epileptic mechanisms.
Abstract: Two unrelated children displayed attacks of paroxysmal jerky 'puppet-like' movements lasting 2-3 min. The attacks were not kinesigenic and occurred during wakefulness precipitated by physical exercise and during NREM sleep, spontaneous or upon arousal and awakenings. Paroxysmal dystonic choreoathetosis was excluded by the absent family history, and paroxysmal kinesigenic dystonia by the absence of triggering effects by sudden movements and efficacy of anticonvulsants. Pattern and duration of involuntary movements were not those typical of nocturnal paroxysmal dystonia. Our cases emphasize that overlap exists among the different clinical categories of paroxysmal dyskinesia.
Abstract: Three children had both nocturnal unilateral motor seizures and daytime ipsilateral "negative myoclonus" which occurred so frequently that it resembled asterixis. Neurophysiologic studies demonstrated lateralized spike discharges that were time-locked to postural lapse in the contralateral outstretched arm. The clinical course was characterized by good seizure control with benzodiazepines.
Abstract: Thirty narcoleptic patients (29 out of 30 of Mediterranean origin) were studied for HLA polymorphisms (only 24 were investigated for HLA class III). We found that these patients are characterized by DR2, DQW2 phenotype (p less than 0.0001) as those of Anglo-Saxon origin so far studied and by the complotype: BfS, C4A3, C4B1. Just 1 of 7 BfF patients has the Fb subtype detected by isoelectric focusing technique (p = 0.007). The only patient of Black origin (his mother is Eritrean) is completely different from other patients (DR3,5; DQW2,W3; C4A4,4; C4B1,2), supporting the hypothesis that it is not the DR2, DQW1 phenotype per se involved in this syndrome. Subdividing the subjects according to different clinical features, we cannot demonstrate genetic heterogeneity.
Abstract: A 51-year-old man with type I Arnold-Chiari malformation presented with severe autonomic impairment. Polysomnography disclosed central and obstructive sleep apneas. During REM sleep apneas were accompanied by hypotension and led to convulsive nonepileptic attacks. Marked blood pressure oscillations and central apneas persisted after tracheostomy.
Abstract: Nocturnal polyuria with repeated micturitions during the night is a clinically evident feature of obstructive sleep apnea syndrome (OSAS). These effects are reversed by continuous positive airway pressure (CPAP). There is some evidence that atrial natriuretic peptide (ANP) and catecholaminergic activity may be implicated in the pathogenesis of these symptoms. We studied these biochemical parameters in six patients with severe OSAS during two nights: the first (basal) in their normal conditions and the second during CPAP treatment. CPAP treatment reversed apnea episodes in all our patients. A significant (p less than 0.035) reduction of nocturnal urine volume (from 902 +/- 297 to 447 +/- 130 ml; mean +/- SD), sodium excretion (from 150 +/- 33 to 89 +/- 35 mEq/12 h), noradrenaline excretion (from 95 +/- 101 to 52 +/- 16 micrograms/g creatinine), noradrenaline plasma concentrations (from 325 +/- 96 to 259 +/- 75 pg/ml), ANP plasma concentrations (from 35 +/- 20 to 19 +/- 5 pg/ml) was observed during the night under CPAP application. These data suggest that in OSAS patients the high ANP plasma concentration is responsible for the observed elevated diuresis and sodium excretion. These effects are rapidly reversible, as they are reversed during the first CPAP treated night.
Abstract: The role of weight loss in the therapy of obstructive sleep apnea syndrome (OSAS) was investigated in 23 affected patients with various degrees of obesity (body mass index range 26.6-61.0) free of cranio-facial malformations. Weight loss resulted 18.5 +/- 14.7 (s.d.) kg and was significantly correlated with baseline BMI value (r = 0.94; P less than 0.0001). Weight loss significantly reduced the number of apneas + hypopneas per hour of sleep ((A + H)I) from 66.5 +/- 23.0 to 33.0 +/- 26.2 (P less than 0.0001) and improved the mean of oxygen desaturation peaks during apneas (mSaO2) from 81.9 +/- 6.9 to 87.6 +/- 3.9; P less than 0.001). A significant correlation was found between weight loss and changes in the (A + H)I (r = -0.55; P less than 0.01) and the mSaO2 (r = 0.46; P less than 0.05). The (A + H)I significantly improved in both patients who lost more than 10 kg (basal BMI: 42.3 +/- 10.0) and in those who lost less than 10 kg (basal BMI: 30.2 +/- 2.3), whereas the mSaO2 improved only in the former. Obese patients with moderate to heavy ORL pathological findings had worse pretreatment and final OSAS parameters than those with absent or mild ORL lesions. However, both groups showed a significant, although quantitatively different, improvement of the (A + H)I and mSaO2 after weight loss. Compared to those who were cured or improved after the treatment, patients who failed to obtain significant effects on OSAS clinical presentation also had a significantly higher prevalence of ORL pathology. It is concluded that: (1) weight loss improves parameters and clinical presentation of OSAS in the majority of affected obese patients; (2) a relationship exists between the entity of weight loss and that of improvement of the syndrome; (3) weight loss must be encouraged even in patients with mild to moderate overweight; (4) the presence of ORL pathology may represent a confusing factor in the interpretation of the results obtained after weight loss.
Abstract: Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tachypnea and O2 desaturation were observed only during wakefulness. The analogy of these patterns with those of genetic syndromes such as familial encephalopathy and the Rett syndrome led us to postulate the aspecificity of this finding and the importance of further studies to elucidate the role of impaired behavioural and automatic breathing system control.
Abstract: Restless legs syndrome was the first isolated clinical manifestation in four siblings of a family with familial amyloid polyneuropathy. Clinical and electrophysiological evidence of peripheral neuropathy appeared after a variable time interval. Polysomnography showed abnormal sleep patterns and nocturnal myoclonus in all patients. The restless legs syndrome responded favourably to clonazepam.
Abstract: Six patients complained of distressing sudden awakenings with abnormal motor activity during sleep causing insomnia. Polysomnography showed paroxysmal short-lasting arousals during NREM, especially slow-wave sleep, associated with complex movements and autonomic activation. Ictal and interictal EEG never showed epileptic discharges except in 1 patient who also had a tonic-clonic seizure during sleep. Carbamazepine was the only effective medication in 2 patients. Paroxysmal arousals represent a sleep disturbance that may be related to deep epileptic foci.
Abstract: The epileptic or nonepileptic origin of nocturnal paroxysmal dystonia (NPD) has been debated. We studied three patients with frequent attacks during non-REM sleep. During prolonged video-EEG monitoring, two patients had a convulsive seizure after a typical NPD episode and on these occasions EEG showed epileptiform discharge. In the three patients, attacks occurred repeatedly with different intensity, representing "fragments" of the same seizure. These fragments of the attack could occur periodically every 20-40 s. We postulate that short NPD attacks are actually epileptic seizures originating from the frontal lobes. The rhythmicity of the episodes may be due to rhythmic oscillation of cortical function during non-REM sleep.
Abstract: An epidemiological survey of the prevalence of snoring and sleep apnoeas was performed on 3479 30-69-year-old men living in Bologna, north-east Italy. First a postal questionnaire was sent. It was returned with appropriate answers by 1170. A 20% random sample of those who did not answer were invited by telephone to return the questionnaire. Among these groups 119 (10%) and 19 (5.6%) respectively answered that they always snored. A random sample of 40 every-night snorers were studied by polysomnography. Based on the frequency of every-night snoring and the results of polysomnography we estimated that the minimal prevalence of sleep apnoea among 30-69-year-old men was 2.7% considering an apnoea + hypopnoea index of 10 or more pathological. According to the Lugaresi classification we had a 2.5% prevalence of heavy snorers' disease (HSD) Stage 1 or higher. These figures indicate that obstructive sleep apnoea during sleep is a major public health problem.
Abstract: We studied Restless Legs Syndrome (RLS) and nocturnal myoclonus (NM) in 9 patients before and after carbamazepine treatment, to verify the correlation between improvement of RLS and modification of NM pattern during sleep. Although CBZ proved effective in the treatment of RLS, it did not modify the pattern of nocturnal myoclonus and its relationship to arousal during sleep. The efficacy of CBZ on RLS may be due to other properties of the drug rather than to the effect on nocturnal sleep: reduction of sleep latency and wakefulness after sleep onset.
Abstract: In a 52-year-old man who presented with an obstructive sleep apnea (OSAS) syndrome, we observed cerebral anoxic attacks during rapid eye movement (REM) sleep. Polysomnography showed that the attacks were due to severe hypoxia provoked by apneas lasting up to 220 s. Electroencephalogram (EEG) and clinical features clearly differentiate cerebral anoxic attacks from epileptic seizures. The length of apneas in our patient is very unusual, indicating an impairment of the mechanism terminating apneas. The cause of this impairment is unknown. However, this case report documents a possible pathogenetic mechanism other than heart arrhythmias responsible for sudden death or coma arising during sleep.
Abstract: REM sleep behaviors were recently described as wild, dream-enacting behaviors during REM sleep with loss of usual atonia on submental muscles. We examined 6 patients (5 M, 1F) with characteristic episodes of behavioral manifestations during REM sleep. Polysomnographic data indicate a decrease in first REM latency, an absence of stage 4 NREM, altered phasic motor activity and behavioral episodes during REM sleep even with normal chin muscle atonia. Three patients had Shy-Drager syndrome, 1 olivopontocerebellar atrophy and 2 patients had no neurological disease. The crucial importance of a disinhibited locomotor system during sleep appears to be responsible for this REM parasomnia.
Abstract: Clinical studies have shown that zolpidem, an original imidazopyridine derivative, induces and maintains sleep and does not have daytime side-effects. Polysomnography has revealed that this drug has several interesting qualities that benzodiazepines do not possess: stages 3-4 increase, stage 2 is unchanged or slightly reduced and no abnormal changes are detected on the EEG tracing. Like benzodiazepines, zolpidem slightly reduces REM sleep. The Multiple Sleep Latency Test confirmed that the drug does not cause daytime drowsiness. All the hypnotic drugs studied up to now worsen heavy snoring and obstructive sleep apnea syndrome. A controlled double blind cross-over trial assessed the effects of a single dose of zolpidem 20 mg on nocturnal breathing in patients with mild forms of sleep apnea syndrome. The results indicate that, at this dose, the drug does not overcome the existing contraindications to the use of hypnotics in this syndrome.
Abstract: Snoring (inspiratory noise related to narrowing of the upper airways) and obstructive sleep apnea (OSA) are two aspects of the same basic disorder: sleep-related narrowing of the upper airways. Patients with OSA have been heavy snorers for years and even decades. Lying supine induces snoring and mild OSA in heavy snorers due to hypotonia of pharyngeal dilator muscles, decreasing waking neural drive and recumbent position, which contribute to functional narrowing of the upper airways. Functional factors in obstruction during sleep include (a) respiratory instability prevalent in the male sex, (b) increased extensibility of the lax tissues surrounding the oro-pharynx and (c) deficient contraction of the pharyngeal dilator muscles during inspiration. These effects are worsened by sleep deprivation and fragmentation, alcohol intake and sedatives. Anatomical factors favoring narrowing of the upper airways in snorers and OSA patients are (a) abnormally narrow airways as well as (b) increased thickness and length of the velum palatinum in snorers and OSA patients, (c) tonsillar and adenoid hypertrophy, micro- and retrognathia, and nasal insufficiency, (d) obesity with fat infiltration of the soft tissues and in particular of the oropharynx, (e) relatively open mandibular angle, hypertrophy and thickness of the tongue, and lowered hyoid bone (as shown by MRI imaging). It is possible that many anatomical abnormalities may be the consequence of snoring and obstructive apnea. During NREM sleep the ineffective inspiratory efforts progressively increase with worsening hypoxia and hypercapnia. The upper airways become patent again when arousal induces phasic activation of the dilator pharyngeal muscles.(ABSTRACT TRUNCATED AT 250 WORDS)
Abstract: Physiological hypnic myoclonus (PHM) was quantified during wakefulness and sleep in 7 normal subjects. PHM was evident during relaxed wakefulness and increased during stage 1 and especially REM sleep. In some muscles, however, (e.g., soleus) it showed no increase during sleep. PHM resembled simple fasciculation potentials, or, when repeated or in clusters, the fragmentary myoclonus in NREM sleep. Both 'hypnic' and 'myoclonus' are terms inappropriate to the description of this physiological spontaneous motor activity.
Abstract: A case of Ondine's curse associated with hypothalamic dysfunction in an 8-year-old boy is described. The neuropathological examination revealed a viral encephalitis affecting the hypothalamus and the brainstem. In the medulla the inflammatory process involved the reticular formation and the nuclei considered to control automatic respiration such as the dorsal motor nucleus of the vagus, the nucleus tractus solitarii and the nucleus ambiguous. Although Ondine's curse following viral infection of the central nervous system has been previously reported this represents the first case of viral encephalitis to be pathologically documentated.
Abstract: Breathing is regulated by the behavioural and the automatic systems, the former mainly acting during wakefulness, the latter during sleep. Central alveolar hypoventilation and breathing disorders in Rett syndrome indicate a selective impairment of the two systems.
Abstract: This report refers to a 51 year old man with the clinical features of central alveolar hypoventilation (CAH). Polysomnographic recordings showed periodic breathing and central apnoeas associated with abnormal oscillations of systemic arterial pressure and heart rate during all sleep stages. Oxygen administration during sleep reduced hypoxia, while the periodic breathing and arterial pressure oscillations persisted. The authors suggest that an impairment of the brain structures that play a role in homeostatic adjustment of autonomic functions in connection with the sleep-wake cycle, is responsible for the unusual sleep-related disturbances shown by this patient.
Abstract: Fasciculation potentials were quantitated during wakefulness (W) and the different sleep stages in 10 patients affected by motor neuron disease. Compared to W, no statistically significant variation was present in fasciculations during any sleep stage. Fasciculations remain unaffected by the decrease in central nervous system excitability which occurs during sleep.
Abstract: Respiratory failure has been described in myotonic dystrophy; it worsens during sleep but its central or peripheral origin has yet to be determined. Moreover, patients may present severely disturbed sleep and daytime somnolence. Eight patients with mild to moderate myotonic dystrophy were studied to assess breathing function while awake and during sleep by means of the pulmonary function tests, nocturnal polysomnographic examination and the multiple sleep latency test (MSLT). Three patients had restrictive respiratory defects; none had signs of airway obstruction. All patients had very disrupted nocturnal sleep. Of six patients who underwent the MSLT only two showed a mild tendency to sleep during the day. Six patients had pathological apnoea plus hypopnoea index [(A+H)I] and there was a prevalence of central apnoeas. The apnoeas occurred while resting but awake and throughout all sleep stages. Only two patients (the ones with the least vital capacity) had episodes of progressive oxygen desaturation during rapid eye movement sleep, similar to those found in other restrictive disorders and in chronic obstructive pulmonary disease. It is concluded that the breathing pattern characteristic of our myotonic dystrophy patients was the occurrence of central apnoeas both at rest while awake and during sleep.
Abstract: Four patients with Rett syndrome had prominent abnormalities of breathing during active wakefulness, characterized by prolonged apnea intermixed with irregular and frequent respiratory movements. The apneic periods were associated with severe drops in O2 saturation, which assumed a periodic pattern. Respiration was regular during sleep and quiet wakefulness. These respiratory patterns seem characteristic of Rett syndrome and are probably related to impairment of the behavioral control system of respiration. These severe hypoxic episodes could contribute to permanent neurologic damage and secondary neurochemical changes.
Abstract: Two patients complained of myoclonic jerks precipitated by writing. They had suffered only sporadic seizures triggered by reading. Laboratory assessment demonstrated that typing was the most powerful stimulus in triggering spike-wave discharges associated with myoclonic seizures. Sodium Valproate (20 mg/Kg/die) led to a complete remission of seizures in both cases.
Abstract: Nocturnal myoclonus (or periodic movements in sleep) consists of stereotyped sleep-related movements of the lower limbs and occasionally also upper limbs, ranging from simple dorsiflexion of the big toe and foot to a triple flexion of the entire leg. It is characterized by a typical periodicity, often occurring in association with sleep arousal phenomena. As an isolated finding (essential nocturnal myoclonus), it represents a paraphysiological phenomenon, also found in normal subjects and developing with advancing age. On the other hand, symptomatic nocturnal myoclonus is typically associated with restless legs syndrome; in this condition, it is usually severe and present also during wakefulness. The exact site of origin of nocturnal myoclonus is unknown. It is almost certainly a subcortical phenomenon, probably modulated in its periodicity by reticular influences. It has frequently been confused with, and should be clearly differentiated from, other normal jerking movements of sleep, such as partial myoclonic jerks and massive myoclonic jerks, or sleep starts. Other abnormal movements that may be confused with nocturnal myoclonus are the startles of hyperekplexia, the syndrome of painful legs and moving toes, nocturnal leg cramps, and the numerous varieties of epileptic myoclonus.
Abstract: Sleep-related seizures characterised by choreoathetoid, dystonic and ballic movements occurred in 12 patients, repeatedly each night and over a period of years. The nocturnal attacks were short-lasting, responded well to carbamazepine and were sometimes associated with clearly or possibly epileptic seizures during night- or daytime. They resembled the paroxysmal kinesigenic dystonias of wakefulness. Similar dystonic-dyskinetic attacks, but of long duration and unresponsive to medication, were also observed in two other patients, in one 20 years before the onset of clinically apparent Huntington's chorea. Nocturnal paroxysmal dystonia represents a syndrome of sleep-related motor attacks which comprises two variants, respectively characterised by short and long-lasting seizures. Its precise nosological definition still awaits elucidation.
Abstract: We conducted polygraphic studies during wakefulness and all-night sleep in 13 patients with cryptogenic and 3 with postparalytic hemifacial spasm. The movements decreased progressively with deepening sleep stages, reaching lowest values in REM sleep. The reduction was inversely related to the severity of movements during wakefulness. There was no relation between hemifacial spasm and mimic activity on the unaffected side. Central inhibitory processes may account for the partial decline in intensity of the movements in sleep.
Abstract: The sleep-related respiratory and blood pressure changes in a patient with Shy-Drager syndrome associated with the sleep apnoea syndrome are reported. Polygraphic recordings showed repeated apnoeic episodes during both sleep and wakefulness. Systemic arterial pressure values during sleep tended to be lower than in two other patients with Shy-Drager syndrome, and, unlike observations in the sleep apnoea syndrome, nocturnal swings of arterial pressure related to obstructive apnoea were markedly reduced. As a result, the total sleep time was reduced; a sleep with several features similar to REM stage was identified; during this stage the arterial pressure reached the lowest levels recorded. A review of the literature revealed that nocturnal respiratory disturbances were detectable in a high percentage of patients with Shy-Drager syndrome. We suggest that such an association is not a chance one.
Abstract: Four girls affected with the Rett syndrome showed stereotyped hand movements and psychomotor regression beginning in the first or second year of life after initially normal development, with total loss of language, a severe gait, and chewing and swallowing disturbances. Breathing during active wakefulness was abnormal, with clusters of arrhythmic, tachypneic and irregular respiratory acts, intermixed with prolonged apneic episodes causing cyanosis and even fainting. On the other hand, breathing was regular during both NREM and REM sleep stages. Breathing impairment in the Rett syndrome is characterized by an inability to maintain normal respiratory patterns during wakefulness, and represents a functional disturbance of the behavioral control of breathing, which occurs during active wakefulness.
Abstract: Neurologists are becoming increasingly aware of the frequency and clinical importance of sleep-related respiratory impairment. Sleep-induced narrowing of the upper airways underlies the widespread and supposedly trivial complaint of snoring, which may not only constitute a risk factor for the cardiocirculatory system, but in predisposed individuals, may lead to a sleep apnea syndrome, with its array of serious disturbances, including hypersomnia, systemic and pulmonary hypertension and ultimately heart failure. Idiopathic chronic alveolar hypoventilation, or Ondine's curse, is a fairly stereotyped clinical syndrome: sleep-related respiratory insufficiency in the absence of airways stenosis. Finally, sleep, and REM sleep in particular, significantly aggravates hypoventilation in patients with chronic obstructive pulmonary disease (COPD), kyphoscoliosis or chest musculoskeletal disorders.
Abstract: In four cases of occipital lobe epilepsy, clinical seizures and EEG discharges were evoked by darkness and/or closed eyes. In all cases the inducing factor was represented by the abolition of central vision. The importance of central vision in the excitation-inhibition process of the occipital EEG discharges is emphasized in light of the anatomophysiological organization of the visual system. Scotosensitive epilepsy and benign partial epilepsy of childhood with occipital spike-waves may represent the same clinical entity.
Abstract: We report here on a case of primary alveolar hypoventilation in a 9 yr old child. From the age of 8 years, the patient has suffered from episodes of bronchopneumonia associated with severe respiratory insufficiency and lethargy. After recovery, cyanosis developed during the night and, later on, during the day. On two occasions, serious respiratory depression followed ketamine sedation for cardiac catheterization and total anaesthesia for cerebral angiography. Pulmonary function tests showed normal volumes and normal mechanics of breathing; blood gas analysis revealed a slight hypercapnic acidosis and hypoxia. The ventilatory response to CO2 was virtually absent, whereas voluntary hyperventilation normalized blood gas values. A polygraphic recording during sleep showed a marked worsening of hypoventilation, which occurred soon after falling asleep and continued throughout all sleep stages; sporadic central apnoeas, at times prolonged, were recorded only during light sleep. The patient, now 14 yr old, is maintained in satisfactory condition with low flow nocturnal oxygen administration combined with the use of a body respirator during sleep twice a week.
Abstract: Three girls showed psychomotor regression arising between the 1st and 2nd year of life, after an initially normal development. Language, gait, chewing and swallowing were especially affected, whereas elementary sensory and motor functions were relatively spared. All displayed a particular disorder of breathing, which was irregular and inadequate during wakefulness, returning to normal during sleep. There are similarities between these patients and the syndrome of cerebral atrophy with hyperammonaemia, even though brain CT and biochemical studies, including ammonaemia, were all normal.
Abstract: In four patients, calf muscular hypertrophy developed after the onset of sciatica. Hypertrophic muscles were weak and showed electromyographic signs of denervation. In all cases, calf muscle biopsy showed striking hypertrophy of type 1 and, especially, type 2 muscle fibers. This hypertrophy was associated with other signs indicating a neurogenic lesion. Muscle hypertrophy is a rare finding in neurogenic lesions. Stretch and exercise of muscle are probably the causative factors.
Abstract: There have been no controlled therapeutic trials in Restless Legs Syndrome (RLS). In 6 patients with RLS, a randomized double-blind cross-over trial vs placebo showed a significant efficacy of clonazepam in improving subjective quality of sleep and leg dysaesthesia. Vibratory stimulation of the leg showed a less pronounced and non-significant effect. Clonazepam is a safe and effective drug for treatment of RLS; however its long-term efficacy needs confirmation.
Abstract: Auditory stimuli induce facilitation of the H reflex during wakefulness (so-called audio-spinal influence). In 5 subjects we found that, during SWS, the same stimuli may provoke phasic losses of muscle tone and H reflex inhibition. Similar losses of tone and H reflex inhibition were related to epileptic spikes in 3 patients.
Abstract: Three patients showing clinical and electrophysiological evidence of peripheral neuropathy also suffered from the syndrome of "painful legs and moving toes". Polygraphic recordings during wakefulness and sleep were consistent with the hypothesis that pathological afferent discharges arising peripherally may induce, via the spinal cord, motor excitation and pain. A severe disruption of the pattern of sleep was found in all cases.
Abstract: The passage from trivial snoring to heavy snorer's disease or obstructive apnea syndrome is a subtle and gradual process. The suspect clinical signs of this process are primarily the onset of intermittent snoring and daytime sleepiness. We propose a diagnostic assessment based on objective monitoring of respiratory behaviour (noise of snoring, endothoracic pressure, SaO2) during sleep and the tendency to daytime drowsiness (by means of the so-called multiple sleep latency test, MSLT). These parameters establish not only the presence of a disease state, but also give a fairly accurate indication of the different stages of the disease. The nocturnal respiratory pattern emerging from this objective assessment can be divided into four stages: stage 0 (or preclinical), with sporadic obstructive apneas; stage I (or initial), with obstructive apneas persisting during light (st. 1-2) and REM sleep; stage II (or overt), with obstructive apneas persisting for the whole length of sleep; stage III (or complicated), with alveolar hypoventilation persisting during wakefulness. In stage 0, episodes of O2 desaturation are sporadically present and linked to obstructive apneas or hypopneas. In stages I-II, phasic desaturations are correlated with the apneas. In stage II and above all stage III, phasic desaturation is associated with persistent falls of Sao2.(ABSTRACT TRUNCATED AT 250 WORDS)
Abstract: In order to evaluate autonomic nervous system changes occurring before nocturnal headache attacks, we studied three subjects (one male, two females) suffering from chronic migraine. All three patients underwent a nocturnal polygraphic recording including continuous monitoring of systemic arterial pressure and heart rate. Two subjects showed increases and irregularities of arterial pressure before awakening with headache. These changes began during N-REM sleep and lasted during REM sleep preceding the awakening with headache. Heart rate did not change before the attacks. These findings do not support the hypothesis that autonomic instability during REM sleep represents the precipitating factor of the attacks.
Abstract: In a case of common migraine and in two cases of cluster headache we monitored the arterial pressure and the heart rate by means of polygraphic recordings before, during and after headache attacks. During migraine attacks the arterial pressure did not show significant changes; the heart rate increased. During cluster attacks the arterial pressure increased with frequent hypertensive peaks; the heart rate on average slowed down and showed marked irregularities.
Abstract: A patient had syncope induced by swallowing. Electrocardiographic monitoring during eating and esophageal balloon inflation demonstrated a second-degree atrioventricular block (Mobitz type II) with dizziness. Radiologic and manometric examinations of the esophagus showed diffuse esophageal spasm associated with hypertension of the upper esophageal sphincter (UES), gastroesophageal reflux, and a sliding hiatal hernia. Cineradiographic observations were made during ingestion of a meal mixed with barium; at the time of cardiac dysrhythmia, the proximal part of the esophagus containing the bolus assumed a balloonlike shape, while the distal part and the UES contracted. On the basis of these observations and review of all published cases, we propose the pathways of this esophagocardiac reflex and discuss up-to-date treatment.
Abstract: Five patients between the ages of 7 and 74 years presented with nocturnal episodes characterized by coarse, often violent movements of the limbs and by a tonic phase of variable duration. Seizures recurred every night or almost every night during slow wave (NREM) sleep and were not associated with electroencephalographic (EEG) abnormalities. Interictal EEGs were normal during both sleep and wakefulness. Carbamazepine treatment was effective in all patients. Uniform clinical behavior and EEG patterns indicate a distinct nosological entity whose pathophysiology is not yet understood.
Abstract: A case of polyneuropathy in a 14-year-old boy, a chronic gasoline sniffer, is reported. Clinical and electromyographic examination showed a symmetrical motor involvement, mainly distally and in the lower limbs. A sural nerve biopsy showed only slight changes, both of axonal and demyelinating type. The role of gasoline toxic substances in the etiology of this rare polyneuropathy is discussed.
Abstract: The present report documents for the first time the polygraphic pattern of an ecstatic seizure and confirms that this kind of seizure may be an expression of a temporal lobe epilepsy.
Abstract: This paper presents a case of epileptic seizures occurring during card games and draughts. The patient was a 26-year-old man who complained of "arrests of thought" while playing cards or draughts or solving mathematical problems. The attacks, which were very rare in other situations, had begun at the age of 14. Between the ages of 14 and 21 he had had occasional tonic-clonic seizures. Protracted EEG recording showed bursts of 3 Hz spike-wave discharges during the day. Such discharges were very much more frequent when the patient was playing cards of draughts and only these circumstances were subjectively experienced as lapses of consciousness. Various explanations can be advanced for this case.
Abstract: The case of a mentally retarded 18-year-old girl who for 2 years has experienced epileptic seizures exclusively during meals is discussed. Polygraphic recordings have defined the electrical and clinical features of these seizures. None of the possible precipitating factors considered in other cases in the literature (chewing, swallowing, conditioned reflex, etc.) seems to be involved in this case. We hypothesize that in our patient the precipitating factor is the complete act of eating a meal, which involves the satisfaction of a basic drive.
Abstract: We describe a syndrome characterized by acquired micrognathia, hypersomnia, and periodic apneas during sleep. Six patients affected with the syndrome underwent nocturnal and diurnal polygraphic recordings that demonstrated that during sleep there is an uninterrupted succession of apneas, primarily the obstructive type, analogous to those observed in Pickwickian syndrome. Simultaneous recording of pulmonary and systemic arterial pressure during sleep and repeated blood gas analyses have shown that as soon as the apneas appear there is a decisive increase in pulmonary and systemic pressure and serious alveolar hypoventilation. The hemodynamic and ventilatory changes are even more intense during rapid eye movement sleep. Tracheostomy, performed on five of our patients, is the only treatment producing complete clinical remission of the syndrome.
