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| Pàgina inicial > Articles > Articles publicats > Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy |
(Institut de Recerca Sant Pau) (Hospital Sant Joan de Déu (Barcelona, Catalunya)) (Hospital Universitari Vall d'Hebron) (Hospital Universitari Vall d'Hebron) (Hospital Universitari Vall d'Hebron) (Hospital Universitari Vall d'Hebron) (Hospital Sant Joan de Déu (Barcelona, Catalunya)) (Institut de Recerca Sant Pau) (Hospital Sant Joan de Déu (Barcelona, Catalunya)) (Institut de Recerca Sant Pau)| Data: | 2024 |
| Resum: | SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55. 9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83. 3% had moderate to profound intellectual disability (ID), 91. 7% displayed autistic traits, 73% experienced sleep disorders and 86. 1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55. 3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials. |
| Ajuts: | Agencia Estatal de Investigación PID2021-124411OB-I00 Agencia Estatal de Investigación RTI 2018-097037-B-I00 Instituto de Salud Carlos III AC17/00005 Ministerio de Ciencia e Innovación RYC-2011-08391p |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Autism spectrum disorder ; Developmental and epileptic encephalopathy ; Diffuse fast activity ; Disorganized background activity ; EEG ; Interictal epileptiform discharges ; Rare disease ; SYNGAP1 |
| Publicat a: | Frontiers in Cell and Developmental Biology, Vol. 12 (march 2024) , ISSN 2296-634X |
