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 language | English |
|---|---|
| Pages (from-to) | 727-734 |
| Number of pages | 8 |
| Journal | Brain and Development |
| Volume | 39 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - Oct 1 2017 |
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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 journal › Article
}
TY - JOUR
T1 - Electrical status epilepticus during sleep in Mowat–Wilson syndrome
AU - Bonanni, Paolo
AU - Negrin, Susanna
AU - Volzone, Anna
AU - Zanotta, Nicoletta
AU - Epifanio, Roberta
AU - Zucca, Claudio
AU - Osanni, Elisa
AU - Petacchi, Elisa
AU - Fabbro, Franco
PY - 2017/10/1
Y1 - 2017/10/1
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.
AB - 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.
KW - Epilepsy
KW - Epileptic encephalopathy
KW - ESES
KW - Mowat–Wilson syndrome
KW - Sleep
UR - http://www.scopus.com/inward/record.url?scp=85019124792&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85019124792&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2017.04.013
DO - 10.1016/j.braindev.2017.04.013
M3 - Article
VL - 39
SP - 727
EP - 734
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 9
ER -