Cortical and subcortical morphological alteration in Angelman syndrome.
Angelman syndrome
Brain morphometry
MRI
Seizure
Journal
Journal of neurodevelopmental disorders
ISSN: 1866-1955
Titre abrégé: J Neurodev Disord
Pays: England
ID NLM: 101483832
Informations de publication
Date de publication:
14 02 2023
14 02 2023
Historique:
received:
23
03
2022
accepted:
28
11
2022
entrez:
15
2
2023
pubmed:
16
2
2023
medline:
17
2
2023
Statut:
epublish
Résumé
Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development. Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with seizure (AS-Se) and age-matched AS patients with non-seizure (AS-NSe) were compared. The voxel-based and surface-based morphometry analyses were used in our study. Gray matter volume, cortical thickness (CTH), and local gyrification index (LGI) were assessed to analyze the cortical and subcortical structure alteration in the AS brain. Firstly, compared with the HC group, children with AS were found to have a significant decrease in gray matter volume in the subcortical nucleus, cortical, and cerebellum. However, the gray matter volume of AS patients in the inferior precuneus was significantly increased. Secondly, patients with AS had significantly increased LGI in the whole brain as compared with HC. Thirdly, the comparison of AS-Se and the AS-NSe groups revealed a significant decrease in caudate volume in the AS-Se group. Lastly, we further selected the caudate and the precuneus as ROIs for volumetric analysis, the AS group showed significantly increased LGI in the precuneus and reduced CTH in the right precuneus. Between the AS-Se and the AS-NSe groups, the AS-Se group exhibited significantly lower density in the caudate, while only the CTH in the left precuneus showed a significant difference. These results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes.
Sections du résumé
BACKGROUND
Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development.
METHODS
Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with seizure (AS-Se) and age-matched AS patients with non-seizure (AS-NSe) were compared. The voxel-based and surface-based morphometry analyses were used in our study. Gray matter volume, cortical thickness (CTH), and local gyrification index (LGI) were assessed to analyze the cortical and subcortical structure alteration in the AS brain.
RESULTS
Firstly, compared with the HC group, children with AS were found to have a significant decrease in gray matter volume in the subcortical nucleus, cortical, and cerebellum. However, the gray matter volume of AS patients in the inferior precuneus was significantly increased. Secondly, patients with AS had significantly increased LGI in the whole brain as compared with HC. Thirdly, the comparison of AS-Se and the AS-NSe groups revealed a significant decrease in caudate volume in the AS-Se group. Lastly, we further selected the caudate and the precuneus as ROIs for volumetric analysis, the AS group showed significantly increased LGI in the precuneus and reduced CTH in the right precuneus. Between the AS-Se and the AS-NSe groups, the AS-Se group exhibited significantly lower density in the caudate, while only the CTH in the left precuneus showed a significant difference.
CONCLUSIONS
These results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes.
Identifiants
pubmed: 36788499
doi: 10.1186/s11689-022-09469-3
pii: 10.1186/s11689-022-09469-3
pmc: PMC9930225
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
7Informations de copyright
© 2023. The Author(s).
Références
Brain. 2019 May 1;142(5):1282-1295
pubmed: 30938430
Cereb Cortex. 2011 Sep;21(9):2147-57
pubmed: 21330467
Elife. 2015 Dec 03;4:
pubmed: 26633882
Biol Psychiatry. 2006 Nov 1;60(9):942-50
pubmed: 16950212
Neuroimage Clin. 2018 Mar 10;18:822-834
pubmed: 29876268
Neuroimage. 2006 Feb 15;29(4):1224-30
pubmed: 16223589
Neuron. 2018 Sep 5;99(5):905-913.e7
pubmed: 30146301
Genes (Basel). 2022 Aug 14;13(8):
pubmed: 36011358
Brain Dev. 2021 Jan;43(1):32-44
pubmed: 32893075
Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):12667-72
pubmed: 25136099
Cereb Cortex. 2005 Dec;15(12):1900-13
pubmed: 15758198
Brain. 2013 Jun;136(Pt 6):1956-67
pubmed: 23715094
PLoS One. 2016 Sep 14;11(9):e0162817
pubmed: 27626634
Dev Med Child Neurol. 2011 Apr;53(4):361-7
pubmed: 21121904
Cereb Cortex. 2009 Nov;19(11):2728-35
pubmed: 19299253
Hum Brain Mapp. 2016 Jul;37(7):2616-29
pubmed: 27061356
Front Comput Neurosci. 2017 Feb 22;11:5
pubmed: 28275348
Behav Brain Res. 2015;287:331-9
pubmed: 25804360
Nat Genet. 1997 Jan;15(1):74-7
pubmed: 8988172
Neurotherapeutics. 2015 Jul;12(3):641-50
pubmed: 26040994
Dev Cogn Neurosci. 2016 Jun;19:137-43
pubmed: 26999477
Mov Disord. 2014 Jan;29(1):122-6
pubmed: 24123500
Glia. 2021 Jan;69(1):5-19
pubmed: 32589817
Brain. 2006 Mar;129(Pt 3):564-83
pubmed: 16399806
Neuroimage. 2012 Jan 2;59(1):349-55
pubmed: 21827860
Epilepsy Behav. 2002 Jun;3(3):219-231
pubmed: 12662601
Cortex. 2009 Oct;45(9):1091-6
pubmed: 19232583
Cereb Cortex. 2016 Jul;26(7):3297-309
pubmed: 27130663
Neuroimage. 2003 Jul;19(3):1233-9
pubmed: 12880848
Science. 2019 Dec 20;366(6472):1486-1492
pubmed: 31857479
Pediatr Neurol. 2011 May;44(5):350-6
pubmed: 21481743
Cereb Cortex. 2015 Dec;25(12):4727-39
pubmed: 25037924
IEEE Trans Med Imaging. 2008 Feb;27(2):161-70
pubmed: 18334438
Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76
pubmed: 20803659
J Neurosci. 2014 Jan 15;34(3):932-40
pubmed: 24431451
Cereb Cortex. 2019 Jun 1;29(6):2412-2423
pubmed: 29771286
Brain. 2012 Dec;135(Pt 12):3529-50
pubmed: 23107648
Neuroimage. 2006 Oct 15;33(1):46-54
pubmed: 16901723
Hum Brain Mapp. 2014 Nov;35(11):5414-30
pubmed: 24909300
J Alzheimers Dis. 2010;22(3):909-22
pubmed: 20858974
Nature. 1997 Jan 23;385(6614):313-8
pubmed: 9002514
J Neural Transm (Vienna). 2018 Mar;125(3):531-545
pubmed: 28766041
Epilepsia. 2009 Nov;50(11):2369-76
pubmed: 19453717
Neuroimage. 2007 Oct 15;38(1):95-113
pubmed: 17761438
Psychol Med. 2017 Jan;47(1):171-181
pubmed: 27682320
J Neurosci. 2017 Aug 2;37(31):7347-7361
pubmed: 28663201
Neuroscientist. 2012 Aug;18(4):360-72
pubmed: 22235060
Neuroimage Clin. 2017 Dec 20;17:899-909
pubmed: 29527494
Brain Imaging Behav. 2014 Mar;8(1):52-9
pubmed: 23813349
Epilepsia. 2007 Feb;48(2):211-9
pubmed: 17295613
AJNR Am J Neuroradiol. 2020 May;41(5):889-897
pubmed: 32381544
Neuroimage. 2013 Jan 15;65:336-48
pubmed: 23041529
Neuroimage. 2016 Aug 15;137:9-20
pubmed: 27165761