Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing Human Connectome Project

Hai Le; Daphna Fenchel; Konstantina Dimitrakopoulou; Hamel Patel; Charles Curtis; Lucilio Cordero-Grande; David Edwards; Jo Hajnal; Jacques-Donald Tournier; Maria Deprez; Harriet Cullen

Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing Human Connectome Project

Hai Le, Daphna Fenchel, Konstantina Dimitrakopoulou, Hamel Patel, Charles Curtis, Lucilio Cordero-Grande, David Edwards, Jo Hajnal, Jacques-Donald Tournier, Maria Deprez, Harriet Cullen

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Abstract

Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, pFDR = 0.04) and fronto-temporal (β = 0.024, pFDR = 0.01) volumes, but negatively with parietal (β = -0.037, pFDR = 0.04) and parieto-occipital (β = -0.033, pFDR = 0.01) volumes. This preliminary result suggests potential involvement of ASD common genetic variants in early structural variations linked to ASD.

Original language	English
Journal	Translational psychiatry
Publication status	Accepted/In press - 21 Jan 2025

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Autism common variants associated with regional lobe volume variations at birthAccepted author manuscript, 2.81 MBLicence: CC BY

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Le, H., Fenchel, D., Dimitrakopoulou, K., Patel, H., Curtis, C., Cordero-Grande, L., Edwards, D., Hajnal, J., Tournier, J.-D., Deprez, M., & Cullen, H. (Accepted/In press). Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing Human Connectome Project. Translational psychiatry.

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title = "Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing Human Connectome Project",

abstract = "Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, pFDR = 0.04) and fronto-temporal (β = 0.024, pFDR = 0.01) volumes, but negatively with parietal (β = -0.037, pFDR = 0.04) and parieto-occipital (β = -0.033, pFDR = 0.01) volumes. This preliminary result suggests potential involvement of ASD common genetic variants in early structural variations linked to ASD.",

author = "Hai Le and Daphna Fenchel and Konstantina Dimitrakopoulou and Hamel Patel and Charles Curtis and Lucilio Cordero-Grande and David Edwards and Jo Hajnal and Jacques-Donald Tournier and Maria Deprez and Harriet Cullen",

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language = "English",

journal = "Translational psychiatry",

issn = "2158-3188",

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T1 - Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing Human Connectome Project

AU - Le, Hai

AU - Fenchel, Daphna

AU - Dimitrakopoulou, Konstantina

AU - Patel, Hamel

AU - Curtis, Charles

AU - Cordero-Grande, Lucilio

AU - Edwards, David

AU - Hajnal, Jo

AU - Tournier, Jacques-Donald

AU - Deprez, Maria

AU - Cullen, Harriet

PY - 2025/1/21

Y1 - 2025/1/21

N2 - Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, pFDR = 0.04) and fronto-temporal (β = 0.024, pFDR = 0.01) volumes, but negatively with parietal (β = -0.037, pFDR = 0.04) and parieto-occipital (β = -0.033, pFDR = 0.01) volumes. This preliminary result suggests potential involvement of ASD common genetic variants in early structural variations linked to ASD.

AB - Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, pFDR = 0.04) and fronto-temporal (β = 0.024, pFDR = 0.01) volumes, but negatively with parietal (β = -0.037, pFDR = 0.04) and parieto-occipital (β = -0.033, pFDR = 0.01) volumes. This preliminary result suggests potential involvement of ASD common genetic variants in early structural variations linked to ASD.

M3 - Article

SN - 2158-3188

JO - Translational psychiatry

JF - Translational psychiatry

ER -

Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing Human Connectome Project

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