Susanna Mondini

Sleep-related breathing impairment in myotonic dystrophy.

SummaryRespiratory 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.

Zolpidem-polysomnographic study of the effect of a new hypnotic drug in sleep apnea syndrome.

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.

Sleep disturbance and daytime sleepiness in patients with cirrhosis: a case control study

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.

Reliability of a driving simulation task for evaluation of sleepiness

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.

A driving simulation task: correlations with Multiple Sleep Latency Test.

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.

One-phase management of severe obstructive sleep apnea: Tongue base reduction with hyoepiglottoplasty plus uvulopalatopharyngoplasty

OBJECTIVES: To describe the results of a 1 phase surgical procedure for the treatment of severe obstructive sleep apnea (OSA) attributable to tongue base obstruction. STUDY DESIGN AND SETTING: A retrospective nonrandomized study at S Orsola Malpighi University Hospital of Bologna, Italy. METHODS: Ten male patients affected by severe OSA (mean apnea/hypopnea index [AHI] of 54.7), underwent uvulopalatopharyngoplasty (UPPP) associated with tongue base reduction and hyoepiglottoplasty (TBRHE). The indications to this surgical procedure were based on the presence of hyolingual abnormalities and absence of craniofacial deficiencies determined by preoperative assessment. RESULTS: Mean AHI decreased from 54.7 + 11.5 to 9.4 + 5.4 whereas the mean low SaO2 value went from 77% + 6.2 to 90.7% + 3 and the time of sleep with SaO2 < 90% improved from 53% + 17.2 to 7.3% + 8. The overall success rate was 100%. CONCLUSIONS AND SIGNIFICANCE: TBRHE is an effective and safe treatment in patients with severe OSA attributable to tongue base obstruction and in absence of craniofacial deficiencies.

Daytime driving simulation performance and sleepiness in obstructive sleep apnoea patients

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.

Upper airway dynamics during negative expiratory pressure in apneic and non-apneic awake snorers.

BackgroundThe ability of negative expiratory pressure (NEP) technique to differentiate between awake snorers with and without obstructive sleep apnea-hypopnea (OSAH) was investigated.MethodsForty-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.ResultsPatients with severe (AHI ≥ 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 ≤ 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.ConclusionThe 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.

“Agrypnia excitata” in a case of sporadic Creutzfeldt–Jakob disease VV2

Sporadic Creutzfeldt–Jakob disease (CJD) of the VV2 subtype (sCJDVV2) was diagnosed at autopsy in a 77-year-old man presenting with gait ataxia, daytime hypersomnolence and complex “oneiric” behaviours at wake–sleep transition. Video polysomnography was consistent with agrypnia excitata (AE). Diffusion weighted imaging (DWI) and 1H-MR spectroscopy (1H-MRS) revealed a severe thalamic and striatal involvement. Neuropathological examination showed widespread subcortical spongiosis, gliosis and neuronal loss with relative sparing of the cerebral neocortex. The present report includes the first demonstration of polysomnographic features consistent with fatal insomnia (FI) in sCJDVV2. Thus sleep–wake disturbance may reflect a similar underlying mechanism in prion disease, and be especially evident in those subtypes, such as FI and sCJDVV2, which show a predominant subcortical pathology associated with a relative sparing of the cerebral neocortex. AE is a generalised overactivity syndrome characterised by loss of slow wave sleep (SWS), mental oneirism and motor and autonomic sympathergic activation.1 AE has been described in FI, delirium tremens (DT) and Morvan’s chorea (MC).1 FI is a rare, usually hereditary, human prion disease, characterised by preferential loss of neurons and gliosis in the thalamus and inferior olives and a relative sparing of the neocortex. Polysomnographic features of FI are complete loss of sleep spindles and SWS and a severe reduction in total sleep time. EEG tracings in FI alternate between two states: wakefulness and “oneiric stupor”.2 While FI is well characterised, a limited number of polysomnographic data have been obtained to …

Busulfan neurotoxicity and EEG abnormalities: a case report

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.