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Biomedical subjects

L Ferini-Strambi

Publications and source records attributed to L Ferini-Strambi.

At least 19 recordsLinked to original sources

Cerebral blepharoptosis: two new cases, literature review and proposal for diagnostic criteria.

Cerebral ptosis (CP) consists of acute and bilateral drooping eyelids due to a right or left middle cerebral artery territory stroke, without involvement of brain stem, third cranial nerve or oculosympathetic fibres. The pathogenesis of CP is still unknown, but most authors have hypothesised that eyelid control is hemispherically lateralised. Two new cases of CP and a complete literature review are reported in this paper. Because no unanimous criteria for CP diagnosis are currently available, a proposal for new criteria is also included.

Aged↗

Aggressive dream content without daytime aggressiveness in REM sleep behavior disorder.

BACKGROUND: REM sleep behavior disorder (RBD) is characterized by vigorous sleep motor activity associated with dream mentation. Patients with RBD frequently report action-filled and violent dreams. OBJECTIVE: To systematically assess dream characteristics and daytime aggressiveness in patients with RBD and controls. METHODS: Forty-nine patients with polysomnographic-confirmed RBD diagnosis and 71 age- and sex-matched controls were asked to recall the most recent dreams and to complete the Aggression Questionnaire (AQ). Forty-one patients with RBD (81.6%; 36 men, 5 women; mean age: 67.5 +/- 7.5 years) and 35 controls (49.3%; 30 men, 5 women; mean age: 69.1 +/- 5.9 years) were able to remember their dreams and a total of 98 (RBD) and 69 (controls) dreams were collected in the two groups. Verbatim dream descriptions were scored and analyzed according to the Hall and Van De Castle method. RESULTS: Patients with RBD showed a higher percentage of dream with at least one aggressive episode (DWA) than controls (66% vs 15%; p < 0.00001), a higher aggression/friendliness interaction ratio (86% vs 44%; p < 0.0001), and a greater frequency of animal characters (19% vs 4%; p = 0.0001). In contrast to controls, no patient with RBD had dreams with elements of sexuality (0% vs 9%; p < 0.0001). The two groups did not differ in total AQ scores, except for a lower score on the physical aggressiveness subscale in patients with RBD compared to control subjects (16.5 +/- 6.4 vs 20.4 +/- 8.3; p = 0.034). No correlation was observed between dream aggressiveness and age, duration, or frequency of RBD symptoms. CONCLUSIONS: Dreams in patients with REM sleep behavior disorder were characterized by an elevated proportion of aggressive contents, despite normal levels of daytime aggressiveness. Dreams with aggressiveness and the known excessive phasic muscle activity during REM sleep may be related to the hyperactivity of a common neuronal generator.

Aged↗

REM sleep behaviour disorder.

REM sleep behaviour disorder (RBD) is a parasomnia characterised by nocturnal complex motor activity associated with dream mentation. RBD, which affects mainly older men, may be idiopathic or associated with other neurological disorders. A strong association between RBD and alpha-synucleinopathies has been recently observed, with the parasomnia often heralding the clinical onset of the neurodegenerative disease. The idiopathic form accounts for up to 60% of the cases reported in the three largest series of RBD patients. Follow-up studies in small samples revealed that a proportion of RBD patients will eventually develop Parkinson's disease and/or a dementia of Lewy bodies type in the years following the RBD diagnosis. Recently, neurophysiological and neuropsychological studies in idiopathic RBD have found evidence of central nervous system dysfunction. An impairment of cortical activity, specific neuropsychological deficits, signs of autonomic dysfunction and olfactory impairment have been observed in these patients, challenging the concept of idiopathic RBD. The detection of early markers of neurodegenerative disorders in idiopathic RBD, and the evaluation of their value by the combined application in prospective studies may be crucial for developing early intervention strategies.

Aggression↗

EEG synchronisation during sleep-related epileptic seizures as a new tool to discriminate confusional arousals from paroxysmal arousals: preliminary findings.

Confusional arousals, paroxysmal arousals (as part of the nocturnal frontal lobe epilepsy) and normal arousals and awakenings from NREM sleep are frequently a challenge for differential diagnosis. In this article we describe the course of synchronisation between different EEG channels during nocturnal seizures in 3 patients with sleep-related epileptic seizures and in 1 patient with sleep terrors. The functional interactions between the different EEG channels during the nocturnal seizures were analysed by means of the so-called synchronisation likelihood (SL). SL is a measure of the dynamical (linear and nonlinear) interdependencies between a time series (EEG channel) and one or more other time series. The main results of our study are the confirmation of a significant increase in EEG synchronisation during sleep-related seizures and the indication that clinically similar ictal motor patterns might be generated by different neurophysiological mechanisms, characterised by different patterns of synchronisation involving multiple or single frequency bands. This new approach might be useful to differentiate motor seizures, emerging from NREM sleep, from parasomnias (arousal disorders) when both ictal and interictal EEGs are uninformative.

Adult↗

'Nocturnal groaning': just a sound or parasomnia?

We describe the clinical and polysomnographic characteristics of 12 patients complaining of expiratory groaning during sleep. Groaning occurred almost exclusively during rapid eye movement sleep. We reviewed all the literature cases, obtaining a total sample of 27 patients. There is no evident association with any predisposing factors or underlying disease. The results obtained from empirical treatment, including drugs and CPAP, are unsatisfactory. The origins of nocturnal groaning, as well as the long-term prognosis, remained unexplained.

Adolescent↗

Frequency of narcolepsy symptoms and other sleep disorders in narcoleptic patients and their first-degree relatives.

Narcolepsy is a rare neurological sleep disorder affecting around 0.05% of the general population. Genetic factors are known to have an important role in narcolepsy. However, because of its very low prevalence, it is difficult to have groups of comparison between first-degree relatives and general population subjects in order to identify a specific spectrum of disorders in these families. Consequently, from 157 Italian patients with narcolepsy, 263 first-degree relatives were recruited, two refused to participate. These family members were compared with a matched group of 1071 subjects selected from a sample of 3970 subjects representative of the general population of Italy (46 million inhabitants). Finally, 68 spouses of narcoleptic patients were used to assess for possible role of environmental factors. All subjects were interviewed by telephone using the Sleep-EVAL system. Nineteen cases of narcolepsy were discovered among the first-degree relatives of 17 probands (10.8%). Compared with the general population subjects, the relative risk of narcolepsy among female first-degree relatives was of 54.4 and of 105.1 among male first-degree relatives. First-degree relatives were also at higher risk for idiopatic hypersomnia (OR: 23.0), obstructive sleep apnea syndrome (OR: 6.8), adjustment sleep disorder (OR: 4.0), insufficient sleep syndrome (OR: 7.0), circadian rhythm disorders (OR: 2.5), REM behavior disorder (OR: 4.4), and sleep talking (OR: 2.0). The vulnerability to sleep disorders is very high in first-degree relatives and the link with different expressivity and severity of hypersomnia can be confirmed.

Adolescent↗

Restless legs syndrome and pregnancy.

OBJECTIVE: To perform a large and detailed epidemiologic study on restless legs syndrome (RLS) during pregnancy and the puerperium. METHODS: A structured clinical interview, assessing symptoms since the beginning of pregnancy, was performed to a population of 642 pregnant women at the time of delivery and at follow-up evaluation (1, 3, and 6 months after delivery). Main hematologic tests were also evaluated. A woman was considered affected if she met the International RLS Study Group criteria for RLS diagnosis. RESULTS: Twenty-six percent of women were affected by RLS during their pregnancy. The disease was strongly related to the third trimester of pregnancy and tended to disappear reaching the time of delivery. Affected women presented lower values of hemoglobin and mean corpuscular volume compared with healthy subjects (both groups received the same supplemental iron and folate therapy). CONCLUSIONS: Pregnancy is associated with transient restless legs syndrome.

Adult↗

Efficacy of pergolide in treatment of restless legs syndrome: the PEARLS Study.

OBJECTIVE: To evaluate the short- and long-term safety and efficacy of pergolide therapy for restless legs syndrome (RLS) in a double-blind, placebo-controlled, randomized trial (Pergolide European Australian RLS [PEARLS] study). METHODS: We randomized 100 patients with idiopathic RLS were randomized to pergolide, 0.25 to 0.75 mg, in the evening or placebo for 6 weeks (phase 1); thereafter, patients with response on the Patient Global Impression (PGI) scale continued on double-blind pergolide or placebo, and nonresponders received open-label pergolide up to 1.5 mg/d for 12 months of treatment (phase 2). Sleep efficiency (SE) and periodic limb movements during sleep (PLMS) arousal index were monitored by centrally evaluated polysomnography (PSG). The severity of RLS was assessed using the validated International RLS Scale (IRLS). RESULTS: In phase 1 (change from baseline to week 6), pergolide reduced PLMS arousal index vs placebo (mean +/- SD, -12.6 +/- 10.0 vs -3.6 +/- 15.9; p = 0.004), and SE did not improve (mean +/- SD, +11.3 +/- 11.9% vs +6.1 +/- 18.6%; p = 0.196). Pergolide improved RLS severity score (-12.2 +/- 9.9 vs -1.8 +/- 7.5 placebo; p < 0.001) and was associated with a higher PGI response (68.1% vs 15.1%; p < 0.001) and improvements in periodic limb movements (PLM) index, PGI improvement scale, Clinical Global Impression improvement, and IRLS (all p < 0.001), patient-reported SE (p = 0.019), and quality of sleep (p < 0.001). After 12 months (phase 2), double-blind pergolide maintained improvements in PLMS arousal index and PLM index. Placebo patients switched to open-label pergolide in phase 2 exhibited marked improvements in these measures that were maintained at 12 months. Pooled results from the blinded and open-label pergolide groups demonstrated improvements at 12 months in the PLMS arousal index (p = 0.028) and PLM index (p < 0.0001) compared with placebo. Nausea and headache were more frequent with pergolide than with placebo treatment. CONCLUSIONS: Pergolide substantially improves periodic limb movement measures and subjective sleep disturbance associated with restless legs syndrome. Low-dose pergolide was well tolerated and maintained its efficacy in the long term.

Abdominal Pain↗

Neuropsychological assessment in idiopathic REM sleep behavior disorder (RBD): does the idiopathic form of RBD really exist?

OBJECTIVE: To evaluate the cognitive performance of patients with idiopathic REM sleep behavior disorder (RBD). METHODS: The authors studied 17 consecutive patients with idiopathic RBD vs 17 age- and education-matched control subjects. Tests given to each patient and control included Mini-Mental State Examination, verbal and spatial short-term memory, visual selective attention, verbal fluency, prose memory, visuoconstructional abilities, spatial learning, and executive function tests. A self-administered depression rating scale was also used. RESULTS: RBD patients had significantly lower scores than control subjects in two tests: copy of Rey-Osterrieth Figure and Corsi Supraspan Learning. No correlation was found between the results of neuropsychological tests and RBD duration or with polysomnographic findings. CONCLUSIONS: Visuospatial constructional dysfunction and altered visuospatial learning may be present in idiopathic RBD. A neuropsychological assessment may be indicated in RBD patients.

Aged↗

Chronic daily headache in childhood and adolescence: clinical aspects and a 4-year follow-up.

Chronic daily headache (CDH) represents a challenge in clinical practice and the scientific field. CDH with onset in children and adolescents represent a matchless opportunity to understand mechanisms involved in adult CDH. The aim of this study was to evaluate the diagnosis, prognosis and psychiatric co-morbidity of CDH with young onset in the young. Fifty-nine CDH patients has been followed from 1997 to 2001 in our department. Headache and psychiatric diagnoses were made on the basis of the international system of classification (International Headache Society, 1988; DSM-IV). Chi2 test and multinomial logistic regressions were applied to analyse factors predicting outcome. The current diagnostic system allows a diagnosis in 80% of CDH patients, even if age-related characteristics have been evidenced. Psychiatric disorders are notable in CDH (about 64% of patients) and predict (mainly anxiety) a poorer outcome. Surprisingly, analgesic overuse is not involved in the chronicization process. Diagnosis of CDH needs further study. Psychiatric disorders predict a worse outcome and greater account should be taken of them in treatment planning.

Adolescent↗

Ropinirole in the treatment of restless legs syndrome: results from the TREAT RLS 1 study, a 12 week, randomised, placebo controlled study in 10 European countries.

OBJECTIVE: To assess the efficacy, safety, and tolerability of ropinirole in the treatment of patients with restless legs syndrome. METHODS: A 12 week, prospective, double blind, randomised comparison involving 284 patients from 10 European countries. All participants had a score of > or =15 on the international restless legs scale (IRLS). Patients were randomised (1:1) to receive either ropinirole 0.25-4.0 mg once daily or placebo. The primary efficacy end point was mean change from baseline to week 12 in total IRLS score. Global improvements (clinical global impression (CGI) scale) and improvements in sleep, health related quality of life (QoL; using generic and disease specific measures), work, and other activities were also assessed. RESULTS: 112/146 patients (76.7%) taking ropinirole and 109/138 (79.0%) taking placebo completed the study. Improvement in IRLS at week 12 with ropinirole (mean (SD) dose, 1.90 (1.13) mg/day) was greater than with placebo (mean (SE): -11.04 (0.719) v -8.03 (0.738) points; adjusted difference = -3.01 (95% confidence interval (CI), -5.03 to -0.99); p = 0.0036). More patients in the ropinirole group (53.4%) showed improvement on the CGI scale at week 12 than in the placebo group (40.9%; adjusted odds ratio = 1.7 (1.02 to 2.69); p = 0.0416). Significant differences on both IRLS and CGI scales favouring ropinirole were apparent by week 1. Ropinirole was also associated with significantly greater improvements in sleep and QoL end points. The most common adverse events were nausea and headache. CONCLUSIONS: Ropinirole improves restless legs syndrome compared with placebo, with benefits apparent by week 1. It is generally well tolerated.

Adult↗

Epidemiology of obstructive sleep apnea syndrome.

The association of obstructive sleep apnea (OSA) syndrome with obesity, hypertension and cardiovascular disease has highlighted the broad public health importance of this condition. OSA affects at least 9% to 15% of middle-aged adults. Both epidemiological and sleep clinic-based studies indicate that OSA is more common in men than in women. However, the ratio of men to women with OSA in clinical studies appears to be considerably higher than in the community: up to 8:1 versus 2 to 3:1. Cross sectional studies on OSA prevalence showed effects of age, independently from the unfortunate propensity for a rising body mass index (BMI) with age: an approximate doubling of apnea-hypopnea index (AHI) every 10 years has been reported. A recent prospective study with 4-year follow-up showed that a 10% weight gain predicted a 32% increase in AHI, whereas a 10% loss in weight predicted a 26% decrease in AHI. Another 5-year prospective study found that longitudinal change in AHI varies nonuniformly with age, sex and weight: older heavier may experience the highest rate of AHI increase over time and, thus, may benefit most from prospective monitoring.

Age Factors↗

Cognitive dysfunction in patients with obstructive sleep apnea (OSA): partial reversibility after continuous positive airway pressure (CPAP).

The aims of this study were to assess cognitive function in obstructive sleep apnea (OSA) patients and to evaluate the effect of short- and long-term treatment with continuous positive airway pressure treatment (CPAP). A battery of neuropsychological tests, the Epworth Sleepiness Scale (ESS), and the Beck Inventory Scale were administered to 23 patients with severe OSA (age: 56.5+/-6.13; AHI: 54.9+/-13.37) and to 23 age- and education-matched controls. The OSA patients were evaluated in a baseline condition and in two follow-up treatment sessions (after 15 days and 4 months of CPAP, respectively). At baseline, OSA patients had a significant impairment, compared to controls, in tests of sustained attention, visuospatial learning, executive function, motor performance, and constructional abilities. The longitudinal evaluation showed that after a 15-days CPAP treatment attentive, visuospatial learning, and motor performances returned to normal levels. A 4-months CPAP treatment did not result in any further improvement in cognitive tests. Performance on tests evaluating executive functions and constructional abilities was not affected by short- and long-term treatment with CPAP. The findings of this study confirm the hypothesis of partial reversibility of cognitive dysfunction in OSA patients after CPAP.

Attention↗

Italian version of the Epworth sleepiness scale: external validity.

We assessed the validity of an Italian language version of the Epworth sleepiness scale (ESS). The translated ESS was compared to the multiple sleep latency test (MSLT), considered the gold standard for the diagnosis of excessive daytime sleepiness (EDS). Within the context of a multicentric national study on narcolepsy (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale, GINSEN) involving 17 Italian sleep centres, we compared the two diagnostic tests on 91 prospectively recruited subjects with suspected EDS (34 with narcolepsy, 16 with obstructive sleep apnea syndrome, 19 with idiopathic hypersomnia, and 22 with other sleep, neurologic or psychiatric disorders). ESS scores were inversely correlated with mean sleep latency values, as measured with MSLT (rho = -0.31, p<0.01). ESS cut-off scores with best sensitivity and specificity were 12 and 17. For the 5-min MSLT cut-off, sensitivity was 87% and 47% respectively; specificity 39% and 74%. For the 8-min MSLT cut-off, sensitivity was 84% and 49%; specificity 50% and 88%. The Italian version of the ESS is an easy-to-use form useful for preliminary screening of daytime sleepiness level in specialist settings.

Adolescent↗

Restless legs syndrome augmentation and pramipexole treatment.

OBJECTIVE: To evaluate in an open-label clinical series the occurrence of restless legs syndrome (RLS) augmentation in 60 consecutive RLS patients treated with pramipexole (PPX) for at least 6 months. BACKGROUND: In patients with restless legs syndrome (RLS), augmentation is most commonly seen with long-term use of levodopa and pergolide. METHOD: Open-label clinical series in 60 consecutive RLS patients treated with PPX for at least 6 months. RESULTS: Augmentation was observed in five patients (8.3%) after 4-15 weeks of treatment. Augmentation occurred more frequently in patients with secondary RLS (4/21) than in those with idiopathic RLS (1/39). CONCLUSIONS: Augmentation is unrelated to either severity of RLS or doses of PPX. There is a very low optimal therapeutic dose of PPX (0.25 mg/day) in most RLS patients (66%).

Journal Article↗

Heart rate changes during sleep in response to experimental thermal (nociceptive) stimulations in healthy subjects.

OBJECTIVE: During wakefulness, nociceptive thermal stimulation can trigger a rapid and transient rise in heart rate (HR). During sleep, HR variations are different across sleep stages; HR is more variable in stage 2 and in REM than in stages 3 and 4. The aim of this study was to assess the HR response to experimental thermal stimulation during different sleep stages. METHODS: Eight young subjects free of sleep and pain problems, underwent a night of polysomnographic recording during which experimental thermal stimulations were applied. During all sleep stages (St), a series of cold, warm/control and heat pain stimulations were applied over the shoulder skin by means of a water-driven system. Variation of HR interval was measured for 6 s before and for 6 s during the thermal stimulation. RESULTS: In comparison to control warm stimulation, experimental nociceptive thermal stimulation induced a significant rise in HR during sleep; HR increased by 7% in St 2, 5.4% in St 3&4, and by 4.3% in REM sleep. CONCLUSION: The brief increase in cardiac activity with experimental nociceptive stimulation suggests that during sleep, the autonomic-cardiac nervous system remains reactive to external sensory inputs and is part of the physiological response to preserve body safety and sleep integrity in the face of potentially harmful stimulation.

Adult↗

Extrapyramidal symptoms and antidepressant drugs: neuropharmacological aspects of a frequent interaction in the elderly.

Depression is the most prevalent functional psychiatric disorder in late life. The problem of motor disorders associated with antidepressant use is relevant in the elderly. Elderly people are physically more frail and more likely to be suffering from physical illness, and any drug given may exacerbate pre-existing diseases, or interact with other drug treatments being administered for physical conditions. Antidepressants have been reported to induce extrapyramidal symptoms, including parkinsonism. These observations prompted us to review the neurobiological mechanism that may be involved in this complex interplay including neurotransmitters and neuronal circuits involved in movement and emotion control and their changes related to aging and disease. The study of the correlations between motor and mood disorders and their putative biochemical bases, as presented in this review, provide a rationale either to understand or to foresee motor side effects for psychotropic drugs, in particular antidepressants.

Aged↗

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE.

The chromosome 15q24 region, containing the CHRNA3/A5/B4 gene cluster, coding for the alpha3, alpha5 and beta4 subunits of neuronal nicotinic acetylcholine receptors, has been reported to be linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in one family. However, nor the gene nor the mutation involved have been identified. We report the refined mapping of CHRNA3/A5/B4 cluster. Segregation analyses of CHRNA3/A5/B4 polymorphisms in families showing recombinations for 15q24 G¿en¿ethon STR markers allowed to position the cluster in a 0.6 cM interval, between STRs D15S1027 and D15S1005. This location is external to the 15q24-ADNFLE-linked region, therefore excluding the involvement of this cluster in the pathogenesis of ADNFLE in the 15q24-linked family. Moreover, these data provide more precise information for further linkage studies.

Chromosome Mapping↗