Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

Pisa, Veronica Di; Provini, Federica; Ubertiello, Sara; Bonetti, S.; Ricci, Emilia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe; Giordano, Lucio; Accorsi, Patrizia; Savasta, Salvatore; Raviglione, Federico; Boni, Antonella; Grioni, Daniele; Graziano, Claudio; Garavelli, Livia; Cordelli, Duccio Maria

doi:10.1016/j.sleep.2019.04.011

Cited by 6 publications

(10 citation statements)

References 15 publications

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“…They found a high level of sleep disturbance in MWS patients, with the highest scores on the Sleep–Wake transition disorders subscale (91% of patients reaching at least the borderline score). These results were confirmed in a following paper about a sleep clinical study in which the analysis of the SDSC questionnaire reported high scores for the “Sleep-wake transition” and in “Initiating and maintaining sleep” [ 64 ]. In the same article, Di Pisa et al objectively evaluated the sleep pattern in the MWS sample through a video-polysomnographic study [ 64 ].…”

Section: Neurological Involvement Of Mwssupporting

confidence: 58%

“…These results were confirmed in a following paper about a sleep clinical study in which the analysis of the SDSC questionnaire reported high scores for the “Sleep-wake transition” and in “Initiating and maintaining sleep” [ 64 ]. In the same article, Di Pisa et al objectively evaluated the sleep pattern in the MWS sample through a video-polysomnographic study [ 64 ]. The results of this study allowed for a better definition of sleep disorders in MWS and correlated well with the findings of the questionnaire.…”

Section: Neurological Involvement Of Mwssupporting

confidence: 58%

“…An age-dependent evolution has also been highlighted regarding electroencephalography (EEG) features [ 17 ] ( Figure 2 ): earlier in life, the EEG background activity (asleep and awake) is normal and there are no paroxysmal discharges, while later in life, a slowing in background activity appears together with focal and multifocal high-voltage spikes and spike-waves prevailing in the frontal and central areas. These epileptic discharges show relevant activation during sleep, delineating a continuous or nearly continuous spike and wave activity pattern in several patients [ 63 , 64 ]. An age-dependent EEG sleep pattern was confirmed also by Di Pisa et al [ 64 ]: all patients showed delta waves of background activity during sleep with a poverty of physiological sleep figures (spindles and K-complex), mainly in the first hours of the night.…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

“…These epileptic discharges show relevant activation during sleep, delineating a continuous or nearly continuous spike and wave activity pattern in several patients [ 63 , 64 ]. An age-dependent EEG sleep pattern was confirmed also by Di Pisa et al [ 64 ]: all patients showed delta waves of background activity during sleep with a poverty of physiological sleep figures (spindles and K-complex), mainly in the first hours of the night. In younger children, they reported only isolated focal spikes minimally activated by sleep.…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

“…In younger children, they reported only isolated focal spikes minimally activated by sleep. In older children (>6 years), they observed in NREM EEG subcontinuous to almost continuous diffuse frontal predominant discharges of spike-waves, especially in the first sleep cycle, often constituting electrical status epilepticus during sleep (ESES) [ 64 ]. ESES was described also by Bonanni et al in a case series study (7 patients) outlining its possible impact on cognitive impairment; an improvement after steroid treatment was reported [ 63 ].…”

Section: Neurological Involvement Of Mwsmentioning

confidence: 99%

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Neurological Phenotype of Mowat-Wilson Syndrome

Cordelli

Pisa

Fetta

et al. 2021

Genes

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Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS, heavily affecting prognosis and life quality of affected individuals. This review aims to comprehensively organize and discuss the neurological and neurodevelopmental phenotype of MWS. First, we will describe the role of ZEB2 in the formation and development of the nervous system by reviewing the preclinical studies in this regard. ZEB2 regulates the neural crest cell differentiation and migration, as well as in the modulation of GABAergic transmission. This leads to different degrees of structural and functional impairment that have been explored and deepened by various authors over the years. Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and peripheral nervous system involvement, as well as developmental, cognitive, and behavioral features) will be faced one at a time and extensively examined from both a clinical and etiopathogenetic point of view, linking them to the ZEB2 related pathways.

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Section: Neurological Involvement Of Mwssupporting

confidence: 58%

Section: Neurological Involvement Of Mwssupporting

confidence: 58%