ArticleJournal of neurodevelopmental disorders2026
Early neurodevelopmental brain perfusion abnormalities and functional connectivity findings in infants with Prader-Willi syndrome.
Article in Journal of neurodevelopmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPrader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by distinct eating behaviors that evolve from early feeding difficulties to later hyperphagia. Early brain abnormalities remain poorly understood, with no data on brain perfusion during infancy. This study investigated early brain perfusion and functional connectivity in infants with PWS and their associations with feeding and social functioning.
methodTwenty-seven infants (mean age 3 months) were included in this prospective study. Thirteen genetically confirmed PWS infants (mean age 2.7 ± 1.2 months) underwent 3T multimodal MRI combined with structural imaging, arterial spin labeling (ASL) to quantify cerebral blood flow (CBF) at rest, and resting-state functional MRI to assess functional connectivity. Oral-motor and social functioning were evaluated via the Neonatal Oral-Motor Assessment Scale (NOMAS) and Coding Interactive Behavior (CIB) scale. Group differences in CBF between PWS infants and 14 age-matched controls (mean age 3.5 ± 1.1 months) were investigated via whole-brain voxelwise analysis and linear regression, controlling for age and sex (p ≤ 0.05, FWE-corrected). Within the PWS group, associations between imaging and clinical data were analyzed via age-adjusted linear regressions, corrected for multiple comparisons using the false discovery rate procedure.
resultsCompared with controls, infants with PWS presented significantly increased CBF in the insula-superior temporal region, striatum-pallidum, and anterior cingulate cortex (p(FWE) ≤ 0.05). Within the PWS group, the anterior cingulate CBF was significantly associated with oral-motor performance (p(FDR) = 0.04) and birth weight (p(FDR) = 0.03). The functional connectivity between the insula-temporal region and the striatum pallidum was significantly associated with unacylated ghrelin levels (p(FDR) = 0.04), whereas the interhemispheric striatum-pallidum functional connectivity was significantly associated with social functioning (p(FDR) = 0.01).
conclusionsThis multimodal MRI study identified early brain hyperperfusion in infants with PWS, preceding the onset of hallmark symptoms. Perfusion in the anterior cingulate cortex is related to early feeding and growth, and functional connectivity within the insular and striatal regions is linked to social and metabolic measures, suggesting that these associations develop early in life. These findings provide a basis for future longitudinal studies to clarify how early patterns of brain function are related to developmental outcomes.
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