Electrical status epilepticus during sleep in Mowat–Wilson syndrome

Paolo Bonanni, Susanna Negrin, Anna Volzone, Nicoletta Zanotta, Roberta Epifanio, Claudio Zucca, Elisa Osanni, Elisa Petacchi, Franco Fabbro

Research output: Contribution to journalArticle

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Abstract

Aim Mowat–Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70–75% of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the severe intellectual disability (ID) and hyperactivity of these Patients. Our purpose was to verify the hypothesis that MWS Patients might have electrical status epilepticus in slow wave sleep (ESES pattern). Methods A retrospective analysis of anamnestic and electrographic data was performed on 7 consecutive MWS Patients followed between 2007 and 2016. Only Patients with at least one overnight sleep EEG were included in the study. Results Five out of 7 Patients had overnight sleep EEG studies and were included in this study. All of them had an anterior ESES pattern with spike-and-wave index > 85%. The architecture of sleep was abnormal. An ESES related regression of cognitive and motor functions with impact on daily activities (ESES-related syndrome) was demonstrated in 3 out of 5 (60%) Patients. In two Patients marked improvement of cognitive and motor performances was observed when the epileptiform activity during sleep was successfully controlled or it was spontaneously reduced. Conclusions The clinical significance of the ESES pattern is hard to assess in MWS Patients due to severe ID, but changing in behaviour or in motor and cognitive functions should mandate sleep EEG investigation and, if ESES is present, an appropriate treatment should be tried. Furthermore, overnight sleep EEG recordings, if regularly performed in the follow up, might help to understand if ESES pattern hampers the cognitive and communicative profile in MWS.

Original languageEnglish
Pages (from-to)727-734
Number of pages8
JournalBrain and Development
Volume39
Issue number9
DOIs
Publication statusPublished - Oct 1 2017

Fingerprint

Status Epilepticus
Sleep
Electroencephalography
Intellectual Disability
Cognition
Inborn Genetic Diseases
Rare Diseases
Epilepsy

Keywords

  • Epilepsy
  • Epileptic encephalopathy
  • ESES
  • Mowat–Wilson syndrome
  • Sleep

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Electrical status epilepticus during sleep in Mowat–Wilson syndrome. / Bonanni, Paolo; Negrin, Susanna; Volzone, Anna; Zanotta, Nicoletta; Epifanio, Roberta; Zucca, Claudio; Osanni, Elisa; Petacchi, Elisa; Fabbro, Franco.

In: Brain and Development, Vol. 39, No. 9, 01.10.2017, p. 727-734.

Research output: Contribution to journalArticle

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abstract = "Aim Mowat–Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70–75{\%} of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the severe intellectual disability (ID) and hyperactivity of these Patients. Our purpose was to verify the hypothesis that MWS Patients might have electrical status epilepticus in slow wave sleep (ESES pattern). Methods A retrospective analysis of anamnestic and electrographic data was performed on 7 consecutive MWS Patients followed between 2007 and 2016. Only Patients with at least one overnight sleep EEG were included in the study. Results Five out of 7 Patients had overnight sleep EEG studies and were included in this study. All of them had an anterior ESES pattern with spike-and-wave index > 85{\%}. The architecture of sleep was abnormal. An ESES related regression of cognitive and motor functions with impact on daily activities (ESES-related syndrome) was demonstrated in 3 out of 5 (60{\%}) Patients. In two Patients marked improvement of cognitive and motor performances was observed when the epileptiform activity during sleep was successfully controlled or it was spontaneously reduced. Conclusions The clinical significance of the ESES pattern is hard to assess in MWS Patients due to severe ID, but changing in behaviour or in motor and cognitive functions should mandate sleep EEG investigation and, if ESES is present, an appropriate treatment should be tried. Furthermore, overnight sleep EEG recordings, if regularly performed in the follow up, might help to understand if ESES pattern hampers the cognitive and communicative profile in MWS.",
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AU - Negrin, Susanna

AU - Volzone, Anna

AU - Zanotta, Nicoletta

AU - Epifanio, Roberta

AU - Zucca, Claudio

AU - Osanni, Elisa

AU - Petacchi, Elisa

AU - Fabbro, Franco

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N2 - Aim Mowat–Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70–75% of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the severe intellectual disability (ID) and hyperactivity of these Patients. Our purpose was to verify the hypothesis that MWS Patients might have electrical status epilepticus in slow wave sleep (ESES pattern). Methods A retrospective analysis of anamnestic and electrographic data was performed on 7 consecutive MWS Patients followed between 2007 and 2016. Only Patients with at least one overnight sleep EEG were included in the study. Results Five out of 7 Patients had overnight sleep EEG studies and were included in this study. All of them had an anterior ESES pattern with spike-and-wave index > 85%. The architecture of sleep was abnormal. An ESES related regression of cognitive and motor functions with impact on daily activities (ESES-related syndrome) was demonstrated in 3 out of 5 (60%) Patients. In two Patients marked improvement of cognitive and motor performances was observed when the epileptiform activity during sleep was successfully controlled or it was spontaneously reduced. Conclusions The clinical significance of the ESES pattern is hard to assess in MWS Patients due to severe ID, but changing in behaviour or in motor and cognitive functions should mandate sleep EEG investigation and, if ESES is present, an appropriate treatment should be tried. Furthermore, overnight sleep EEG recordings, if regularly performed in the follow up, might help to understand if ESES pattern hampers the cognitive and communicative profile in MWS.

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