Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep.
Angelman syndrome
EEG
biomarker
delta
sleep
spindle
Journal
Autism research : official journal of the International Society for Autism Research
ISSN: 1939-3806
Titre abrégé: Autism Res
Pays: United States
ID NLM: 101461858
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
31
01
2022
received:
23
08
2021
accepted:
10
03
2022
pubmed:
20
3
2022
medline:
7
6
2022
entrez:
19
3
2022
Statut:
ppublish
Résumé
Angelman syndrome (AS) is a neurodevelopmental disorder caused by loss-of-function mutations in the maternal copy of the UBE3A gene. AS is characterized by intellectual disability, impaired speech and motor skills, epilepsy, and sleep disruptions. Multiple treatment strategies to re-express functional neuronal UBE3A from the dormant paternal allele were successful in rodent models of AS and have now moved to early phase clinical trials in children. Developing reliable and objective AS biomarkers is essential to guide the design and execution of current and future clinical trials. Our prior work quantified short daytime electroencephalograms (EEGs) to define promising biomarkers for AS. Here, we asked whether overnight sleep is better suited to detect AS EEG biomarkers. We retrospectively analyzed EEGs from 12 overnight sleep studies from individuals with AS with age and sex-matched Down syndrome and neurotypical controls, focusing on low frequency (2-4 Hz) delta rhythms and sleep spindles. Delta EEG rhythms were increased in individuals with AS during all stages of overnight sleep, but overnight sleep did not provide additional benefit over wake in the ability to detect increased delta. Abnormal sleep spindles were not reliably detected in EEGs from individuals with AS during overnight sleep, suggesting that delta rhythms represent a more reliable biomarker. Overall, we conclude that periods of wakefulness are sufficient, and perhaps ideal, to quantify delta EEG rhythms for use as AS biomarkers. LAY SUMMARY: Electroencephalography (EEG) is a safe and reliable way of measuring abnormal brain activity in Angelman syndrome. We found that low-frequency "delta" EEG rhythms are increased in individuals with Angelman syndrome during all stages of overnight sleep. Delta rhythms can be used as a tool to measure improvement in future clinical trials.
Identifiants
pubmed: 35304979
doi: 10.1002/aur.2709
pmc: PMC9227959
mid: NIHMS1812764
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1031-1042Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103573
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD093771
Pays : United States
Organisme : Eunice Kennedy Shriver National Institute of Child Health and Human Development
ID : 5P50HD103573
Organisme : Eunice Kennedy Shriver National Institute of Child Health and Human Development
ID : R01HD093771
Informations de copyright
© 2022 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.
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