Publications by authors named "Martin A Styner"

Anhedonia is increasingly recognized as a transdiagnostic risk factor for psychopathology. New evidence demonstrates that anhedonia is present in infancy and early childhood. Structural variability in striatal regions involved in reward processing and pleasure seeking is concurrently linked to anhedonia, yet few studies have examined whether striatal differences presage anhedonia, and none have examined prospective associations before middle childhood.

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Background: Previous studies demonstrated that children with autism have enlarged volumes of extra-axial cerebrospinal fluid (EA-CSF) and increased ratio of EA-CSF to brain volume, indicating that EA-CSF is disproportionally increased beyond macrocephaly often observed in autism. It is unknown whether EA-CSF is disproportionally enlarged in Angelman syndrome (AS), which shares phenotypic features with autism (sleep problems, seizures) but is characterized by microcephaly. This study examined EA-CSF and total cerebral volume (TCV) in AS children compared to neurotypical (NT) controls to test whether EA-CSF is disproportionally enlarged and is associated with sleep problems and seizures.

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The infant brain and gut microbiome both develop rapidly in early infancy. Growing evidence indicates that the gut microbiome plays a critical role in shaping neurodevelopment early in life, possibly through effects on brain regions involved in affective, interoceptive, and sensory processing. This study used magnetic resonance imaging (MRI) and whole genome sequencing of fecal samples to examine associations between the gut microbiome and brain structures in infants at 2 weeks of age.

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The adoption of a standardized preprocessing workflow is vital for fostering community, sharing, and reproducibility. fMRIPrep has been a critical advancement towards this end, however, it is limited in its capacity to be applied to data across the lifespan, starting from infancy. Here, we introduce fMRIPrep Lifespan, an extension of fMRIPrep that extends the standardized processing from childhood to senescence to include neonatal, infant, and toddler structural and functional MRI data preprocessing.

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Background: Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined functional correlates of ASD symptomology at school-age, while accounting for associated behavioral and cognitive domains, in a longitudinal sample followed from infancy and enriched for those with a genetic liability for ASD.

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Importance: Down syndrome, resulting from trisomy 21, is the most prevalent chromosomal disorder and a leading cause of intellectual disability. Despite its significant impact on brain development, research on the white matter microstructure in infants with Down syndrome remains limited.

Objective: To investigate early white matter microstructure in infants with Down syndrome using diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI).

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Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.

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Article Synopsis
  • Poor prenatal sleep quality in mothers is linked to negative outcomes for both the mother and infant, including changes in brain development and increased anxiety-like behaviors.
  • A study involving 116 mother-infant pairs used surveys to assess maternal sleep quality and MRI scans to examine neonatal brain development, specifically focusing on the uncinate fasciculus.
  • Results showed that poorer maternal sleep during pregnancy correlated with higher levels of white matter in infants, which then related to greater infant negative emotionality, indicating that maternal sleep is an important environmental factor influencing child development.
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We propose Gumbel Noise Score Matching (GNSM), a novel unsupervised method to detect anomalies in categorical data. GNSM accomplishes this by estimating the scores, i.e.

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Turner syndrome, caused by complete or partial loss of an X-chromosome, is often accompanied by specific cognitive challenges. Magnetic resonance imaging studies of adults and children with Turner syndrome suggest these deficits reflect differences in anatomical and functional connectivity. However, no imaging studies have explored connectivity in infants with Turner syndrome.

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  • Maternal adverse childhood experiences (ACEs) significantly impact both maternal mental health and infant brain development, specifically affecting emotional and sensory processing circuits.
  • The study analyzed 101 mother-infant pairs and found that infants of mothers with high ACEs (2 or more) had decreased fractional anisotropy (FA) in the left inferior longitudinal fasciculus (ILF), suggesting potential issues in neural circuit development.
  • Additionally, exploratory analyses indicated differences in visual processing networks and other brain circuits, highlighting the broader implications of maternal ACEs on infant brain structure and development.
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Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still not well characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.

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Converging data show that exposure to maternal immune activation (MIA) in utero alters brain development in animals and increases the risk of neurodevelopmental disorders in humans. A recently developed non-human primate MIA model affords opportunities for studies with uniquely strong translational relevance to human neurodevelopment. The current longitudinal study used 1H-MRS to investigate the developmental trajectory of prefrontal cortex metabolites in male rhesus monkey offspring of dams (n = 14) exposed to a modified form of the inflammatory viral mimic, polyinosinic:polycytidylic acid (Poly IC), in the late first trimester.

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Introduction: Longitudinal effect of diet-induced obesity on bone is uncertain. Prior work showed both no effect and a decrement in bone density or quality when obesity begins prior to skeletal maturity. We aimed to quantify long-term effects of obesity on bone and bone marrow adipose tissue (BMAT) in adulthood.

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Objective: To develop a postmenstrual age (PMA) prediction model based on segmentation volume and to evaluate the brain maturation index using the proposed model.

Methods: Neonatal brain MRIs without clinical illness or structural abnormalities were collected from four datasets from the Developing Human Connectome Project, the Catholic University of Korea, Hammersmith Hospital (HS), and Dankook University Hospital (DU). T1- and T2-weighted images were used to train a brain segmentation model.

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There is strong evidence that the functional connectome is highly related to the white matter connectome in older children and adults, though little is known about structure-function relationships in early childhood. We investigated the development of cortical structure-function coupling in children longitudinally scanned at 1, 2, 4, and 6 years of age (N = 360) and in a comparison sample of adults (N = 89). We also applied a novel graph convolutional neural network-based deep learning model with a new loss function to better capture inter-subject heterogeneity and predict an individual's functional connectivity from the corresponding structural connectivity.

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Recent self-supervised advances in medical computer vision exploit the global and local anatomical self-similarity for pretraining prior to downstream tasks such as segmentation. However, current methods assume i.i.

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Article Synopsis
  • * Rhesus monkeys born to MIA-exposed mothers displayed increased extracellular free water in the brain's cingulate cortex, starting as early as 6 months and continuing until 45 months, indicating potential long-term neurodevelopmental effects.
  • * The findings suggest that elevated free water may serve as an early indicator of disrupted brain development due to maternal immune activation, highlighting the relevance of this nonhuman primate model for studying similar human conditions.
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Human brain undergoes rapid growth during the first few years of life. While previous research has employed graph theory to study early brain development, it has mostly focused on the topological attributes of the whole brain. However, examining regional graph-theory features may provide unique insights into the development of cognitive abilities.

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Decades of research have established that the home language environment, especially quality of caregiver speech, supports language acquisition during infancy. However, the neural mechanisms behind this phenomenon remain under studied. In the current study, we examined associations between the home language environment and structural coherence of white matter tracts in 52 typically developing infants from English speaking homes in a western society.

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Longitudinal studies of infants' brains are essential for research and clinical detection of neurodevelopmental disorders. However, for infant brain MRI scans, effective deep learning-based segmentation frameworks exist only within small age intervals due to the large image intensity and contrast changes that take place in the early postnatal stages of development. However, using different segmentation frameworks or models at different age intervals within the same longitudinal data set would cause segmentation inconsistencies and age-specific biases.

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Article Synopsis
  • * The early years, especially from birth to age 6, are crucial for brain changes influenced by genes, which can affect the risk of mental health and developmental issues later on.
  • * This review highlights existing research on genetic risks in young children and presents the Organization for Imaging Genomics in Infancy (ORIGINs), a group formed to enhance research in this vital area.
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Background: Epidemiological studies suggest that maternal immune activation (MIA) is a significant risk factor for future neurodevelopmental disorders, including schizophrenia (SZ), in offspring. Consistent with findings in SZ research and work in rodent systems, preliminary cross-sectional findings in nonhuman primates suggest that MIA is associated with dopaminergic hyperfunction in young adult offspring.

Methods: In this unique prospective longitudinal study, we used [F]fluoro-l-m-tyrosine positron emission tomography to examine the developmental time course of striatal presynaptic dopamine synthesis in male rhesus monkeys born to dams (n = 13) injected with a modified form of the inflammatory viral mimic, polyinosinic:polycytidylic acid [poly(I:C)], in the late first trimester.

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Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by the absence of dystrophin, a membrane-stabilizing protein encoded by the gene. Although mouse models of DMD provide insight into the potential of a corrective therapy, data from genetically homologous large animals, such as the dystrophin-deficient golden retriever muscular dystrophy (GRMD) model, may more readily translate to humans. To evaluate the clinical translatability of an adeno-associated virus serotype 9 vector (AAV9)-microdystrophin (μDys5) construct, we performed a blinded, placebo-controlled study in which 12 GRMD dogs were divided among four dose groups [control, 1 × 10 vector genomes per kilogram (vg/kg), 1 × 10 vg/kg, and 2 × 10 vg/kg; = 3 each], treated intravenously at 3 months of age with a canine codon-optimized microdystrophin construct, rAAV9-CK8e-c-μDys5, and followed for 90 days after dosing.

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Background: A large body of research supports the deleterious effects of adverse childhood experiences (ACEs) on disease susceptibility and health for both the exposed individual and the next generation. It is likely that there is an intergenerational transmission of risk from mother to child; however, the mechanisms through which such risk is conferred remain unknown. The current study evaluated the association between maternal ACEs, neonatal brain development of the amygdala and hippocampus, and later infant negative emotionality at six months of age.

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