Electro-clinical features in epileptic children with chromosome 15q duplication syndrome. Issue 5 (May 2021)

• Record Type: Journal Article
• Authors: Dangles, M.-T.; Malan, V.; Dumas, G.; Romana, S.; Raoul, O.; Coste-Zeitoun, D.; Soufflet, C.; Vignolo-Diard, P.; Bahi-Buisson, N.; Barnérias, C.; Chemaly, N.; Desguerre, I.; Gitiaux, C.; Hully, M.; Bourgeois, M.; Guimier, A.; Rio, M.; Munnich, A.; Nabbout, R.; Kaminska, A.; Eisermann, M.
• Is Part Of: Clinical neurophysiology. Volume 132:Issue 5(2021)
• Page Start: 1126
• Page End: 1137
• Publication Date: 2021-05
• Subjects: 15q11q13 -- Dup15q -- Isodicentric chromosome 15q -- Inv dup 15 -- Interstitial chromosome 15q -- EEG; ACTH adrenocorticotropic hormone -- ASD autism spectrum disorder -- ASM anti-seizure medication -- BP breakpoint -- BPF beta peak frequency -- DSA density spectral array -- dup15q chromosome 15 long arm duplication -- ECG electrocardiogram -- EMG electromyography -- ES epileptic spasms -- ESES electrical status epilepticus during sleep -- FISH Fluorescence In Situ Hybridization -- GTCS generalized tonic-clonic seizures -- GABR gamma-aminobutyric acid type A receptor -- HC hydrocortisone -- ID intellectual disability -- idic15 inversion-duplication of chromosome 15 -- intdup15 interstitial duplication of chromosome 15 -- INAD infantile neuroaxonal dystrophy -- LGS Lennox-Gastaut syndrome -- PSD power spectral density -- PWACR Prader-Willi syndrome and Angelman syndrome critical region -- RR rapid rhythms -- VGB vigabatrin -- WS West syndrome; Neurophysiology -- Periodicals; Electroencephalography -- Periodicals; Electromyography -- Periodicals; Neurology -- Periodicals; 612.8
• DOI: 10.1016/j.clinph.2021.02.010
• Languages: English
• ISSNs: 1388-2457

Abstract

Highlights: West or Lennox-Gastaut syndrome often occur in isodicentric chromosome 15q duplication. Focal epilepsy often occurs in interstitial chromosome 15q duplication. Chromosome 15q duplication displays abundant beta rhythms in wakefulness, decreasing in sleep. 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.