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  1. Article ; Online: MECP2

    Cani, Ilaria / Muccioli, Lorenzo / Mignani, Francesco / Licchetta, Laura / Tinuper, Paolo / Provini, Federica / Bisulli, Francesca

    Epilepsy & behavior reports

    2022  Volume 19, Page(s) 100541

    Abstract: MECP2 duplication syndrome (MDS) is a rare and severe neurodevelopmental disorder frequently associated with epilepsy. Different seizure types and electroencephalographic (EEG) patterns were described in patients with MDS, although it lacks a specific ... ...

    Abstract MECP2 duplication syndrome (MDS) is a rare and severe neurodevelopmental disorder frequently associated with epilepsy. Different seizure types and electroencephalographic (EEG) patterns were described in patients with MDS, although it lacks a specific phenotype. We report on an adult patient with long-term epilepsy showing an evolution of the EEG pattern that progressively changed into burst suppression (BS) during sleep. As BS has not been previously reported in MDS, this report expands the neurophysiological phenotype of MDS and further suggest the possible occurrence of a longitudinal spectrum of seizure types and EEG patterns in MDS.
    Language English
    Publishing date 2022-04-19
    Publishing country United States
    Document type Case Reports
    ISSN 2589-9864
    ISSN (online) 2589-9864
    DOI 10.1016/j.ebr.2022.100541
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  2. Article ; Online: Pervasive and diffuse muscle activity during REM sleep and non-REM sleep characterises multiple system atrophy in comparison with Parkinson's disease.

    Silvani, Alessandro / Baldelli, Luca / Giannini, Giulia / Guaraldi, Pietro / Sambati, Luisa / Cecere, Annagrazia / Mignani, Francesco / Cortelli, Pietro / Calandra-Buonaura, Giovanna / Provini, Federica

    Journal of sleep research

    2022  Volume 32, Issue 2, Page(s) e13721

    Abstract: Multiple system atrophy (MSA) and Parkinson's disease (PD) may share overlapping features particularly at early disease stage, including sleep alterations, but have profoundly different prognoses. Certain sleep phenomena and disorders of motor control ... ...

    Abstract Multiple system atrophy (MSA) and Parkinson's disease (PD) may share overlapping features particularly at early disease stage, including sleep alterations, but have profoundly different prognoses. Certain sleep phenomena and disorders of motor control are more prevalent in multiple system atrophy, such as REM sleep behaviour disorder (RBD). We quantitatively tested whether pervasive muscle activity during sleep occurs in subjects with multiple system atrophy versus Parkinson's disease. Laboratory polysomnographic studies were performed in 50 consecutive subjects with Parkinson's disease and 26 age- and gender-matched subjects with multiple system atrophy at <5 years from disease onset. The distributions of normalised electromyographic activity of submentalis, wrist extensor, and tibialis anterior muscles in different wake-sleep states during the night were analysed. Subjects with multiple system atrophy had significantly higher activity of submentalis, wrist extensor, and tibialis anterior muscles than subjects with Parkinson's disease during non-REM sleep, including separately in stages N1, N2, and N3, and during REM sleep, but not during nocturnal wakefulness. The activity of wrist extensor and tibialis anterior muscles during non-REM sleep and the activity of tibialis anterior muscles during REM sleep were also significantly higher in subjects with multiple system atrophy and RBD than in subjects with Parkinson's disease and RBD. In conclusion, with respect to Parkinson's disease, multiple system atrophy is characterised by a pervasive and diffuse muscle overactivity that involves axial and limb muscles and occurs not only during REM sleep, but also during non-REM sleep and between subjects with comorbid RBD.
    MeSH term(s) Humans ; Parkinson Disease/complications ; Multiple System Atrophy/complications ; Electromyography/methods ; Sleep, REM/physiology ; REM Sleep Behavior Disorder/complications ; Muscles
    Language English
    Publishing date 2022-08-31
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1122722-9
    ISSN 1365-2869 ; 0962-1105
    ISSN (online) 1365-2869
    ISSN 0962-1105
    DOI 10.1111/jsr.13721
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  3. Article ; Online: Tracheostomy is associated with increased survival in Multiple System Atrophy patients with stridor.

    Giannini, Giulia / Provini, Federica / Cani, Ilaria / Cecere, Annagrazia / Mignani, Francesco / Guaraldi, Pietro / Di Mirto, Cristian Vincenzo Francesco / Cortelli, Pietro / Calandra-Buonaura, Giovanna

    European journal of neurology

    2022  Volume 29, Issue 8, Page(s) 2232–2240

    Abstract: Background and purpose: Stridor treatment in multiple system atrophy (MSA) mainly comprises tracheostomy or continuous positive airway pressure (CPAP), but guidelines for the use of these treatments are lacking. The aim of the study was to evaluate the ... ...

    Abstract Background and purpose: Stridor treatment in multiple system atrophy (MSA) mainly comprises tracheostomy or continuous positive airway pressure (CPAP), but guidelines for the use of these treatments are lacking. The aim of the study was to evaluate the predictive value of stridor treatment in an MSA cohort.
    Methods: This is a retrospective and prospective monocentric cohort study including MSA patients evaluated at least once a year during the disease course. Stridor was video-polysomnography confirmed. The time of stridor treatment (CPAP or tracheostomy) and latency from stridor onset were collected. Survival and predictors of survival were calculated.
    Results: A total of 182 (107 males, mean age at disease onset 57.3 ± 8.4 years) MSA patients were included in the study; 141 were deceased at the time of study. Of the total sample, 75 patients were diagnosed with stridor: 22 patients were treated with tracheostomy and 29 with CPAP, whilst 24 patients did not receive treatment. Treatment with tracheostomy showed longer survival compared with both treatment with CPAP or no treatment (incidence rate of death 12 vs. 21 vs. 23 per 100 person-years, respectively). Tracheostomy remained an independent factor associated with longer survival (hazard ratio 0.38, p = 0.029), also after adjustment for other confounders and latency for stridor treatment.
    Conclusions: This is the largest monocentric and long-term follow-up study comparing survival between tracheostomy and CPAP in MSA patients with stridor. Treatment with tracheostomy showed longer survival compared with both treatment with CPAP or no treatment. A careful multidisciplinary approach is required for the management of MSA patients with stridor.
    MeSH term(s) Cohort Studies ; Follow-Up Studies ; Humans ; Male ; Multiple System Atrophy/complications ; Prospective Studies ; Respiratory Sounds ; Retrospective Studies ; Tracheostomy
    Language English
    Publishing date 2022-04-15
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15347
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  4. Article ; Online: Nocturnal motor behaviors with unexpected EEG and brain MRI findings.

    Baldini, Tommaso / Loddo, Giuseppe / Mignani, Francesco / Licchetta, Laura / Bisulli, Francesca / Tinuper, Paolo / Provini, Federica

    Sleep medicine

    2018  Volume 52, Page(s) 116–117

    MeSH term(s) Adult ; Anticonvulsants/administration & dosage ; Clonazepam/administration & dosage ; Diagnosis, Differential ; Electroencephalography/methods ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Malformations of Cortical Development/diagnostic imaging ; Polysomnography ; Sleep Arousal Disorders/diagnostic imaging ; Temporal Lobe/diagnostic imaging
    Chemical Substances Anticonvulsants ; Clonazepam (5PE9FDE8GB)
    Language English
    Publishing date 2018-09-06
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2018.08.017
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  5. Article: Clinical Features and Pathophysiology of Disorders of Arousal in Adults: A Window Into the Sleeping Brain.

    Baldini, Tommaso / Loddo, Giuseppe / Sessagesimi, Elisa / Mignani, Francesco / Cirignotta, Fabio / Mondini, Susanna / Licchetta, Laura / Bisulli, Francesca / Tinuper, Paolo / Provini, Federica

    Frontiers in neurology

    2019  Volume 10, Page(s) 526

    Abstract: Introduction: ...

    Abstract Introduction:
    Language English
    Publishing date 2019-05-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2019.00526
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  6. Article ; Online: Searching food during the night: the role of video-polysomnography in the characterization of the night eating syndrome.

    Loddo, Giuseppe / Zanardi, Marilena / Caletti, Maria Turchese / Mignani, Francesco / Petroni, Maria Letizia / Chiaro, Giacomo / Marchesini, Giulio / Provini, Federica

    Sleep medicine

    2019  Volume 64, Page(s) 85–91

    Abstract: Objectives: To describe the video-polysomnographic (VPSG) features of the night eating syndrome (NES), exploring the existence of potential subtypes.: Methods: In this study, 20 consecutive patients with NES according to the most recent diagnostic ... ...

    Abstract Objectives: To describe the video-polysomnographic (VPSG) features of the night eating syndrome (NES), exploring the existence of potential subtypes.
    Methods: In this study, 20 consecutive patients with NES according to the most recent diagnostic criteria underwent an overnight VPSG. None of them presented with a sleep-related eating disorder (SRED). VPSG recordings were reviewed identifying all eating episodes. For each episode, eating latency (time delay from awakening to food intake), eating duration (time between eating onset to eating offset) and sleep latency after eating offset (time delay from eating offset to sleep) were calculated. Total episode duration was considered as the time between awakening and sleep latency after eating offset.
    Results: Ten patients fulfilled the A1 core criterion for NES (evening hyperphagia with consumption of at least 25% of the daily caloric intake after the evening meal); within this group, eight patients also fulfilled the A2 criterion (at least two episodes of nocturnal eating per week) and were thus included in the evening hyperphagia (EH) subgroup. The remaining 10 patients satisfied only the A2 core criterion for NES, constituting the nocturnal ingestion (NI) subgroup. We recorded 20 eating episodes, seven in the EH group and 13 in the NI group. In the EH subgroup, three eating episodes occurred before sleep onset, one after an awakening from non-rapid eye movement (NREM) stage 1 sleep, two from NREM stage 2 and one from REM sleep. All 13 NI episodes occurred after an awakening from sleep (1 from NREM stage 1 sleep, 8 from NREM stage 2 and four from NREM stage 3). In EH patients, eating latency, total episode duration and sleep latency after eating offset were significantly longer than in NI patients.
    Conclusion: Our VPSG data from a case series of 20 patients referred to our center for nocturnal eating indicate potential different NES subtypes. This distinction may have an impact on patients' treatment and follow-up.
    MeSH term(s) Adult ; Feeding Behavior ; Female ; Humans ; Hyperphagia/complications ; Hyperphagia/diagnosis ; Hyperphagia/epidemiology ; Male ; Middle Aged ; Night Eating Syndrome/complications ; Night Eating Syndrome/diagnosis ; Night Eating Syndrome/epidemiology ; Polysomnography ; Prospective Studies ; Video Recording
    Language English
    Publishing date 2019-07-05
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2019.06.018
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  7. Article ; Online: Sleep-Related Rhythmic Movements and Sleep Terrors: A Possible Common Neurophysiological Background in a Preschool Boy.

    Merli, Elena / Ferri, Raffaele / DelRosso, Lourdes M / Mignani, Francesco / Loddo, Giuseppe / Traverso, Annalisa / Provini, Federica

    Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

    2019  Volume 15, Issue 12, Page(s) 1849–1852

    Abstract: None: We report the case of a 3-year-old boy with a history of frequent and injurious sleep-related rhythmic movements and sleep terrors. We documented six episodes of body rocking and head banging via video polysomnography. No epileptic seizures were ... ...

    Abstract None: We report the case of a 3-year-old boy with a history of frequent and injurious sleep-related rhythmic movements and sleep terrors. We documented six episodes of body rocking and head banging via video polysomnography. No epileptic seizures were observed. In addition to the association between a sleep movement disorder and a disorder of arousal, our case shows that sleep-related rhythmic movements can arise not only during relaxed wakefulness or during a stable sleep stage, but also during a less clearly defined sleep stage during which it is difficult to further subtype non-rapid eye movement sleep. On the contrary, the portion of sleep without rhythmic movement episodes were clearly depicted with their physiological features. These findings might be of relevance for understanding the pathophysiology of both sleep-related rhythmic movements and sleep terrors and emphasize the importance to assess sleep using polysomnography, especially when episodes are frequent and injurious. The neurophysiological information obtained from this assessment might be helpful and guide an eventual treatment option.
    MeSH term(s) Child, Preschool ; Electroencephalography/methods ; Follow-Up Studies ; Humans ; Male ; Niacinamide/analogs & derivatives ; Niacinamide/therapeutic use ; Night Terrors/complications ; Night Terrors/drug therapy ; Night Terrors/physiopathology ; Polysomnography/methods ; Sleep-Wake Transition Disorders/complications ; Sleep-Wake Transition Disorders/drug therapy ; Sleep-Wake Transition Disorders/physiopathology ; Videotape Recording
    Chemical Substances Niacinamide (25X51I8RD4) ; niaprazine (R2H3YN6E3L)
    Language English
    Publishing date 2019-11-02
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2397213-0
    ISSN 1550-9397 ; 1550-9389
    ISSN (online) 1550-9397
    ISSN 1550-9389
    DOI 10.5664/jcsm.8098
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  8. Article ; Online: Progression and prognosis in multiple system atrophy presenting with REM behavior disorder.

    Giannini, Giulia / Mastrangelo, Vincenzo / Provini, Federica / Droghini, Andrea / Cecere, Annagrazia / Barletta, Giorgio / Mignani, Francesco / Guaraldi, Pietro / Cortelli, Pietro / Calandra-Buonaura, Giovanna

    Neurology

    2020  Volume 94, Issue 17, Page(s) e1828–e1834

    Abstract: Objectives: To investigate (1) the prevalence of REM sleep behavior disorder (RBD) as mode of disease onset in a cohort of patients with multiple system atrophy (MSA) and (2) disease progression and prognosis in patients with MSA with RBD predating (pre- ...

    Abstract Objectives: To investigate (1) the prevalence of REM sleep behavior disorder (RBD) as mode of disease onset in a cohort of patients with multiple system atrophy (MSA) and (2) disease progression and prognosis in patients with MSA with RBD predating (pre-RBD) and following (post-RBD) disease onset.
    Methods: We retrospectively identified all patients with a clinical diagnosis of MSA evaluated at least once a year during the disease course. Type of onset was defined by the first reported motor or autonomic symptom/sign related to MSA. The occurrence of symptoms/signs and milestone of disease progression, and their latency from disease onset, were collected. Survival data were calculated. RBD was confirmed by video-polysomnography.
    Results: Of a total of 158 patients, pre-RBD represented the mode of disease onset in 27% of patients, preceding disease onset according to the international criteria with a median of 3 (2-5) years. Comparing pre-RBD and post-RBD patients, the first group showed an increased prevalence of autonomic onset of disease, a reduced prevalence of parkinsonism, an earlier onset of stridor, pyramidal signs, symptomatic orthostatic hypotension, urinary dysfunction, severe dysphagia, and wheelchair dependency. The risk of death was higher in patients with pre-RBD.
    Conclusions: In our MSA cohort, RBD represented the most frequent mode of disease presentation. A more rapid progression of disease was observed in the pre-RBD group. These findings suggested a careful assessment of sleep disorders to early recognize RBD and a closer follow-up of autonomic dysfunction and stridor in patients with pre-RBD.
    MeSH term(s) Aged ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Multiple System Atrophy/complications ; Prevalence ; Prognosis ; REM Sleep Behavior Disorder/epidemiology ; REM Sleep Behavior Disorder/etiology ; Retrospective Studies
    Language English
    Publishing date 2020-03-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000009372
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  9. Article ; Online: The Arousal Disorders Questionnaire: a new and effective screening tool for confusional arousals, Sleepwalking and Sleep Terrors in epilepsy and sleep disorders units.

    Loddo, Giuseppe / La Fauci, Giusy / Vignatelli, Luca / Zenesini, Corrado / Cilea, Rosalia / Mignani, Francesco / Cecere, Annagrazia / Mondini, Susanna / Baldelli, Luca / Bisulli, Francesca / Licchetta, Laura / Mostacci, Barbara / Guaraldi, Pietro / Giannini, Giulia / Tinuper, Paolo / Provini, Federica

    Sleep medicine

    2021  Volume 80, Page(s) 279–285

    Abstract: Background: Arousal Disorders (DoA) include Confusional Arousals, Sleepwalking and Sleep Terrors. DoA diagnosis is mainly clinical but no validated questionnaires exist for DoA screening according to the criteria of the International Classification of ... ...

    Abstract Background: Arousal Disorders (DoA) include Confusional Arousals, Sleepwalking and Sleep Terrors. DoA diagnosis is mainly clinical but no validated questionnaires exist for DoA screening according to the criteria of the International Classification of Sleep Disorders, Third Edition. Recently our group proposed the Arousal Disorders Questionnaire (ADQ) as a new diagnostic tool for DoA diagnosis. The objective of this study was to evaluate the diagnostic accuracy of the ADQ in a sleep and epilepsy center.
    Methods: One interviewer blinded to clinical and video-polysomnographic (VPSG) data administered the ADQ to 150 patients consecutively admitted to our Sleep and Epilepsy Centers for a follow-up visit. The final diagnosis, according to VPSG recordings of at least one major episode, classified patients either with DoA (DoA group) or with other sleep-related motor behaviors confounding for DoA (nDoA group).
    Results: 47 patients (31%) composed the DoA group; 56 patients with REM sleep behavior disorder, 39 with sleep-hypermotor epilepsy, six with night eating syndrome, and two with drug-induced DoA composed the nDoA group. The ADQ had a sensitivity of 72% (95% CI: 60-82) and a specificity of 96% (95% CI: 89-98) for DoA diagnosis; excluding the items regarding consciousness and episode recall, sensitivity was 83% (95% CI: 71-90) and specificity 93% (95% CI: 86-97).
    Conclusions: The ADQ showed good accuracy in screening patients with DoA in a sleep and epilepsy center setting. Diagnostic criteria related to cognition and episode recall reduced ADQ sensitivity, therefore a better definition of these criteria is required, especially in adults.
    MeSH term(s) Adult ; Arousal ; Epilepsy/diagnosis ; Humans ; Night Terrors/diagnosis ; Parasomnias/diagnosis ; Sleep Arousal Disorders/diagnosis ; Sleep Wake Disorders ; Somnambulism/diagnosis ; Surveys and Questionnaires
    Language English
    Publishing date 2021-01-29
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2021.01.037
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  10. Article ; Online: Specific motor patterns of arousal disorders in adults: a video-polysomnographic analysis of 184 episodes.

    Loddo, Giuseppe / Sessagesimi, Elisa / Mignani, Francesco / Cirignotta, Fabio / Mondini, Susanna / Licchetta, Laura / Bisulli, Francesca / Tinuper, Paolo / Provini, Federica

    Sleep medicine

    2017  Volume 41, Page(s) 102–109

    Abstract: Objective: To compile an objective accurate description of the motor patterns of adult arousal disorders (ADs).: Methods: We reviewed 59 nocturnal video-polysomnographic (VPSG) recordings of 30 adult patients (>15 years) with a history of ... ...

    Abstract Objective: To compile an objective accurate description of the motor patterns of adult arousal disorders (ADs).
    Methods: We reviewed 59 nocturnal video-polysomnographic (VPSG) recordings of 30 adult patients (>15 years) with a history of sleepwalking (SW). We scrutinized the semeiology of all 184 episodes recorded, classifying them into three groups according to three semeiological motor patterns characterized by increasing intensity and complexity: simple arousal movements (pattern I), characterized by head flexion/extension, head flexion/extension and limb movement or head flexion/extension and partial trunk flexion/extension; rising arousal movements (pattern II), characterized by a complete trunk flexion with patient sitting up in bed; and complex arousal with ambulatory movements (pattern III) characterized by SW. The VPSG recordings were compared to those of 10 healthy controls.
    Results: AD patients presented with 169 pattern I, 37 pattern II, and nine pattern III episodes. Pattern I developed into pattern II in 17 cases and into pattern II followed by pattern III in five patients. Pattern II developed into pattern III in four patients. Onset was abrupt in 55% of the episodes. Episodes lasted a mean (±standard deviation) of 33 ± 35 s. Movements tended to halt temporarily during 72% of the episodes. We recorded 248 movements during sleep in the healthy controls, none of whom presented with AD patterns.
    Conclusion: We identified three specific motor patterns in AD patients not previously reported and not observed in healthy controls. Identification of these patterns could be important for diagnosis and serve as the basis for a new definition of AD in adults.
    MeSH term(s) Adult ; Arousal ; Female ; Humans ; Male ; Motor Activity/physiology ; Polysomnography/methods ; Sleep Stages ; Somnambulism/diagnosis ; Video Recording
    Language English
    Publishing date 2017-10-07
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2017.08.019
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