Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

Nienke Verbeek; Dorothée Kasteleijn-Nolst Trenite; Merel Wassenaar; Jolien van Campen; Anja Sonsma; W Boudewijn Gunning; Al de Weerd; Nine Knoers; Willy Spetgens; Thea Gutter; Frans Leijten; Eva Brilstra

doi:10.1016/j.clinph.2016.11.021

Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

Nienke Verbeek, Dorothée Kasteleijn-Nolst Trenite, Merel Wassenaar, Jolien van Campen, Anja Sonsma, W Boudewijn Gunning, Al de Weerd, Nine Knoers, Willy Spetgens, Thea Gutter, Frans Leijten, Eva Brilstra

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

OBJECTIVE: To detect determinants for photoparoxysmal EEG response (PPR) in SCN1A-related Dravet syndrome (DS).

METHODS: Data were studied from nationwide medical histories and EEGs of DS-patients (n=53; 31 males, age 2-19years). Detailed questionnaires on visual stimuli were completed by parents (n=49).

RESULTS: PPR was found in 22 patients (42%; median age 1.25yr), and repeatedly in 17%. PPR (17% of 249 intermittent photic stimulation (IPS)-EEGs) occurred more often with optimal IPS protocols (OR 2.11 [95%CI 1.09-4.13]) and in EEGs showing spontaneous epileptiform abnormalities (OR 5.08 [95%CI 2.05-12.55]). PPR-positive patients tended to be younger at first (p=0.072) and second seizure (p=0.049), showed severe intellectual disability (p=0.042), and had more often spontaneous occipital epileptiform abnormalities (p<0.001). Clinical sensitivity was reported in medical files in 22% of patients and by parents in 43% (self-induction 24%). Clinical or EEG proven visual sensitivity was detected in 65% of cases.

CONCLUSIONS: Sensitivity to visual stimuli is very common in DS and more often noticed by parents than confirmed by EEG. Detection of PPR improves with repetitive tests using accurate IPS protocols.

SIGNIFICANCE: Photosensitivity is an important feature in DS and seems to be a marker of the severity of the disorder. Therefore repeated standardized IPS should be encouraged.

Original language	English
Pages (from-to)	323-330
Number of pages	8
Journal	Clinical Neurophysiology
Volume	128
Issue number	2
DOIs	https://doi.org/10.1016/j.clinph.2016.11.021
Publication status	Published - 6 Dec 2016

Keywords

Photoparoxysmal EEG response
PPR
SCN1A
Pattern stimulation
Self-induction
Prevalence

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10.1016/j.clinph.2016.11.021

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@article{d6378b7813284c96a87a7bd686a2f34e,

title = "Photosensitivity in Dravet syndrome is under-recognized and related to prognosis",

abstract = "OBJECTIVE: To detect determinants for photoparoxysmal EEG response (PPR) in SCN1A-related Dravet syndrome (DS).METHODS: Data were studied from nationwide medical histories and EEGs of DS-patients (n=53; 31 males, age 2-19years). Detailed questionnaires on visual stimuli were completed by parents (n=49).RESULTS: PPR was found in 22 patients (42%; median age 1.25yr), and repeatedly in 17%. PPR (17% of 249 intermittent photic stimulation (IPS)-EEGs) occurred more often with optimal IPS protocols (OR 2.11 [95%CI 1.09-4.13]) and in EEGs showing spontaneous epileptiform abnormalities (OR 5.08 [95%CI 2.05-12.55]). PPR-positive patients tended to be younger at first (p=0.072) and second seizure (p=0.049), showed severe intellectual disability (p=0.042), and had more often spontaneous occipital epileptiform abnormalities (p<0.001). Clinical sensitivity was reported in medical files in 22% of patients and by parents in 43% (self-induction 24%). Clinical or EEG proven visual sensitivity was detected in 65% of cases.CONCLUSIONS: Sensitivity to visual stimuli is very common in DS and more often noticed by parents than confirmed by EEG. Detection of PPR improves with repetitive tests using accurate IPS protocols.SIGNIFICANCE: Photosensitivity is an important feature in DS and seems to be a marker of the severity of the disorder. Therefore repeated standardized IPS should be encouraged.",

keywords = "Photoparoxysmal EEG response, PPR, SCN1A, Pattern stimulation, Self-induction, Prevalence",

author = "Nienke Verbeek and {Kasteleijn-Nolst Trenite}, Doroth{\'e}e and Merel Wassenaar and {van Campen}, Jolien and Anja Sonsma and Gunning, {W Boudewijn} and {de Weerd}, Al and Nine Knoers and Willy Spetgens and Thea Gutter and Frans Leijten and Eva Brilstra",

year = "2016",

month = dec,

day = "6",

doi = "10.1016/j.clinph.2016.11.021",

language = "English",

volume = "128",

pages = "323--330",

journal = "Clinical Neurophysiology",

issn = "1388-2457",

publisher = "Elsevier Ireland Ltd",

number = "2",

}

TY - JOUR

T1 - Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

AU - Verbeek, Nienke

AU - Kasteleijn-Nolst Trenite, Dorothée

AU - Wassenaar, Merel

AU - van Campen, Jolien

AU - Sonsma, Anja

AU - Gunning, W Boudewijn

AU - de Weerd, Al

AU - Knoers, Nine

AU - Spetgens, Willy

AU - Gutter, Thea

AU - Leijten, Frans

AU - Brilstra, Eva

PY - 2016/12/6

Y1 - 2016/12/6

N2 - OBJECTIVE: To detect determinants for photoparoxysmal EEG response (PPR) in SCN1A-related Dravet syndrome (DS).METHODS: Data were studied from nationwide medical histories and EEGs of DS-patients (n=53; 31 males, age 2-19years). Detailed questionnaires on visual stimuli were completed by parents (n=49).RESULTS: PPR was found in 22 patients (42%; median age 1.25yr), and repeatedly in 17%. PPR (17% of 249 intermittent photic stimulation (IPS)-EEGs) occurred more often with optimal IPS protocols (OR 2.11 [95%CI 1.09-4.13]) and in EEGs showing spontaneous epileptiform abnormalities (OR 5.08 [95%CI 2.05-12.55]). PPR-positive patients tended to be younger at first (p=0.072) and second seizure (p=0.049), showed severe intellectual disability (p=0.042), and had more often spontaneous occipital epileptiform abnormalities (p<0.001). Clinical sensitivity was reported in medical files in 22% of patients and by parents in 43% (self-induction 24%). Clinical or EEG proven visual sensitivity was detected in 65% of cases.CONCLUSIONS: Sensitivity to visual stimuli is very common in DS and more often noticed by parents than confirmed by EEG. Detection of PPR improves with repetitive tests using accurate IPS protocols.SIGNIFICANCE: Photosensitivity is an important feature in DS and seems to be a marker of the severity of the disorder. Therefore repeated standardized IPS should be encouraged.

AB - OBJECTIVE: To detect determinants for photoparoxysmal EEG response (PPR) in SCN1A-related Dravet syndrome (DS).METHODS: Data were studied from nationwide medical histories and EEGs of DS-patients (n=53; 31 males, age 2-19years). Detailed questionnaires on visual stimuli were completed by parents (n=49).RESULTS: PPR was found in 22 patients (42%; median age 1.25yr), and repeatedly in 17%. PPR (17% of 249 intermittent photic stimulation (IPS)-EEGs) occurred more often with optimal IPS protocols (OR 2.11 [95%CI 1.09-4.13]) and in EEGs showing spontaneous epileptiform abnormalities (OR 5.08 [95%CI 2.05-12.55]). PPR-positive patients tended to be younger at first (p=0.072) and second seizure (p=0.049), showed severe intellectual disability (p=0.042), and had more often spontaneous occipital epileptiform abnormalities (p<0.001). Clinical sensitivity was reported in medical files in 22% of patients and by parents in 43% (self-induction 24%). Clinical or EEG proven visual sensitivity was detected in 65% of cases.CONCLUSIONS: Sensitivity to visual stimuli is very common in DS and more often noticed by parents than confirmed by EEG. Detection of PPR improves with repetitive tests using accurate IPS protocols.SIGNIFICANCE: Photosensitivity is an important feature in DS and seems to be a marker of the severity of the disorder. Therefore repeated standardized IPS should be encouraged.

KW - Photoparoxysmal EEG response

KW - PPR

KW - SCN1A

KW - Pattern stimulation

KW - Self-induction

KW - Prevalence

U2 - 10.1016/j.clinph.2016.11.021

DO - 10.1016/j.clinph.2016.11.021

M3 - Article

C2 - 28042998

SN - 1388-2457

VL - 128

SP - 323

EP - 330

JO - Clinical Neurophysiology

JF - Clinical Neurophysiology

IS - 2

ER -

Photosensitivity in Dravet syndrome is under-recognized and related to prognosis

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Keywords

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