Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
Clin Neurophysiol
; 132(5): 1126-1137, 2021 05.
Article
in En
| MEDLINE
| ID: mdl-33773177
ABSTRACT
OBJECTIVE:
We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types interstitial (intdup15) and isodicentric (idic15).METHODS:
Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5 m.o to 17y4m (median follow-up 8y3m), were retrospectively reviewed. EEGs were analyzed visually and using power spectrum analysis.RESULTS:
Seventy video-EEGs were analyzed (1-16 per patient, median 6), follow-up lasting up to 8y10m (median 4y2m) 25 EEGs in intdup15 (8 m.o to 12y.o, median 4y6m) and 45 EEGs in idic15 (7 m.o to 12 y.o, median 15 m). Epilepsy 6 West syndrome (WS) (2intdup15, 4idic15); 4 Lennox-Gastaut syndromes (LGS) (1 intdup15, 3 idic15), 2 evolving from WS; focal epilepsy (3 intdup15). In idic15, WS displayed additional myoclonic seizures (3), atypical (4) or no hypsarrhythmia (2) and posterior predominant spike and polyspike bursts (4). Beta-band rapid-rhythms (RR) present in 11 patients, power decreased during non-REM-sleep, localization shifted from diffuse to anterior, peak frequency increased with age.CONCLUSION:
WS with peculiar electro-clinical features and LGS, along with beta-band RR decreasing in non-REM-sleep and shifting from diffuse to anterior localization with age are recognizable features pointing towards dup15q diagnosis in children with autism spectrum disorder and developmental delay.SIGNIFICANCE:
This study describes electroclinical features in both interstitial and isodicentric duplications of chromosome 15q, in epileptic children, including some recent extensions regarding sleep features; and illustrates how the temporo-spatial organization of beta oscillations can be of significant help in directing towards dup15q diagnosis hypothesis.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Trisomy
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Beta Rhythm
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Chromosome Disorders
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Epilepsy
/
Intellectual Disability
Limits:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
Language:
En
Journal:
Clin Neurophysiol
Journal subject:
NEUROLOGIA
/
PSICOFISIOLOGIA
Year:
2021
Document type:
Article