TY - JOUR
T1 - Early alterations in cortical and cerebellar regional brain growth in Down Syndrome
T2 - An in vivo fetal and neonatal MRI assessment
AU - Patkee, Prachi Awinash
AU - Baburamani, Aradhna
AU - Kyriakopoulou, Vanessa
AU - Davidson, Alice
AU - Avini, Elhaam
AU - Dimitrova, Ralica
AU - Allsop, Joanna
AU - Hughes, Emer
AU - Kangas, Johanna
AU - McAlonan, Grainne Mary
AU - Rutherford, Mary Ann
PY - 2020/1
Y1 - 2020/1
N2 - Down Syndrome (DS) is the most frequent genetic cause of intellectual disability with a wide spectrum of neurodevelopmental outcomes. At present, the relationship between structural brain morphology and the spectrum of cognitive phenotypes in DS, is not well understood. This study aimed to quantify the development of the fetal and neonatal brain in DS participants, with and without a congenital cardiac defect compared with a control population using dedicated, optimised and motion-corrected in vivo magnetic resonance imaging (MRI). We detected deviations in development and altered regional brain growth in the fetus with DS from 21 weeks’ gestation, when compared to age-matched controls. Reduced cerebellar volume was apparent in the second trimester with significant alteration in cortical growth becoming evident during the third trimester. Developmental abnormalities in the cortex and cerebellum are likely substrates for later neurocognitive impairment, and ongoing studies will allow us to confirm the role of antenatal MRI as an early biomarker for subsequent cognitive ability in DS. In the era of rapidly developing technologies, we believe that the results of this study will assist counselling for prospective parents.
AB - Down Syndrome (DS) is the most frequent genetic cause of intellectual disability with a wide spectrum of neurodevelopmental outcomes. At present, the relationship between structural brain morphology and the spectrum of cognitive phenotypes in DS, is not well understood. This study aimed to quantify the development of the fetal and neonatal brain in DS participants, with and without a congenital cardiac defect compared with a control population using dedicated, optimised and motion-corrected in vivo magnetic resonance imaging (MRI). We detected deviations in development and altered regional brain growth in the fetus with DS from 21 weeks’ gestation, when compared to age-matched controls. Reduced cerebellar volume was apparent in the second trimester with significant alteration in cortical growth becoming evident during the third trimester. Developmental abnormalities in the cortex and cerebellum are likely substrates for later neurocognitive impairment, and ongoing studies will allow us to confirm the role of antenatal MRI as an early biomarker for subsequent cognitive ability in DS. In the era of rapidly developing technologies, we believe that the results of this study will assist counselling for prospective parents.
KW - Brain
KW - Down Syndrome
KW - Fetal
KW - MRI
KW - Neonatal
UR - http://www.scopus.com/inward/record.url?scp=85077147972&partnerID=8YFLogxK
U2 - 10.1016/j.nicl.2019.102139
DO - 10.1016/j.nicl.2019.102139
M3 - Article
AN - SCOPUS:85077147972
SN - 2213-1582
VL - 25
JO - NeuroImage: Clinical
JF - NeuroImage: Clinical
M1 - 102139
ER -