Review of structural neuroimaging and genetic findings in autism spectrum disorder – a clinical perspective DOI Creative Commons
Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu

и другие.

Reviews in the Neurosciences, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 19, 2024

Abstract Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication restrictive, repetitive behaviors interests. ASDs form a heterogeneous group from clinical genetic perspective. Currently, diagnosis is based on the observation of individual’s behavior. The subjective nature behavioral diagnoses, context heterogeneity, contributes to significant variation age at ASD diagnosis. Early detection has been proved be critical ASDs, as early start appropriate therapeutic interventions greatly improve outcome for some children. Structural magnetic resonance imaging (MRI) widely used diagnostic work-up conditions, including mostly brain malformations detection. Recently, focus shifted towards quantitative MRI parameters, aiming identify subtle changes that may establish biomarkers. have strong component; deletions duplications several genomic loci strongly associated with risk. Consequently, multitude neuroimaging findings emerged recent years. association gross or morphometry volumes different defects potential bring new insights regarding normal development pathomechanisms various affecting brain. Still, implications these discoveries impact abnormalities structure function unclear. Here we review literature correlated most prevalent imbalances ASD, discuss impact.

Язык: Английский

The MED13L Foundation strategic research plan: a roadmap to the future DOI Creative Commons
Rachel Heilmann, Anna C. Pfalzer, Terry Jo Bichell

и другие.

Therapeutic Advances in Rare Disease, Год журнала: 2024, Номер 5

Опубликована: Янв. 1, 2024

A strategic research plan (SRP) serves as a compass for the patient advocacy organizations driving therapeutic options their rare disorder. The MED13L Foundation commissioned SRP in 2022 through COMBINEDBrain, consortium of neurodevelopmental disorders, working toward clinical trial readiness. is an objective evaluation literature including and basic science knowledge interwoven with assessment preclinical readiness tools necessary achieving interventions. Clinical conducted review documenting symptoms variant information each individual syndrome. Data collated presented summary, providing any unique genotype–phenotype, applicable. Scientific reviewed same manner, identifying areas opportunity to expand Researchers clinicians responsible growing understanding syndrome are interviewed shared create open collaborative network. Preclinical largely framed Food Drug Administration guidelines development therapeutics from bench bedside. Finally, infrastructure community engagement assessed strengths opportunities elevate bond formed drive patient-centered forward. Completed, this becomes living resource set priorities, share researchers clinicians, provide direction reach organizational goals, therapies affected by

Язык: Английский

Процитировано

3
Neural Connections and Molecular Mechanisms Underlying Motor Skill Deficits in Genetic Models of Autism Spectrum Disorders DOI
Jingwen Duan,

Deyang Zeng,

Tong Wu

и другие.

Progress in Neurobiology, Год журнала: 2025, Номер unknown, С. 102759 - 102759

Опубликована: Апрель 1, 2025

Язык: Английский

Процитировано

0
HERVs Endophenotype in Autism Spectrum Disorder: Human Endogenous Retroviruses, Specific Immunoreactivity, and Disease Association in Different Family Members DOI Creative Commons
Marco Bo,

Alessandra Carta,

Chiara Cipriani

и другие.

Microorganisms, Год журнала: 2024, Номер 13(1), С. 9 - 9

Опубликована: Дек. 24, 2024

Increasing evidence indicates that human endogenous retroviruses (HERVs) are important to health and an underexplored component of many diseases. Certain HERV families show unique expression patterns immune responses in autism spectrum disorder (ASD) patients compared healthy controls, suggesting their potential as biomarkers. Despite these interesting findings, the role HERVs ASD needs be further investigated. In this review, we discuss recent advances genetic research on ASD, with a particular emphasis implications neurodevelopment future genomic initiatives aimed at discovering ASD-related genes through Artificial Intelligence. Given pro-inflammatory autoimmune characteristics, existing literature suggests may contribute onset or worsening individuals predisposition. Therefore, propose investigating fundamental properties could not only improve therapies but also pave way for new therapeutic strategies.

Язык: Английский

Процитировано

1
Double-empathy problem; dup15q syndrome; myelin loss in aging autistic adults DOI

Jill Adams

The Transmitter, Год журнала: 2024, Номер unknown

Опубликована: Янв. 1, 2024

Язык: Английский

Процитировано

0
Artificial intelligence networks combining histopathology and machine learning can extract axon pathology in autism spectrum disorder DOI Creative Commons
Arash Yazdanbakhsh,

Kim Dang,

K. S. C. Kuang

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Окт. 26, 2024

Abstract Axon features that underlie the structural and functional organization of cortical pathways have distinct patterns in brains neurotypical controls (CTR) compared to individuals with Autism Spectrum Disorder (ASD). However, detailed axon study demands labor-intensive surveys time-consuming analysis microscopic sections from post-mortem human brain tissue, making it challenging systematically examine large regions brain. To address these challenges, we developed an approach uses machine learning automatically classify ASD CTR brains, while also considering different white matter regions: superficial (SWM), which contains a majority axons connect nearby areas, deep (DWM), is comprised exclusively by participate long-range pathways. The result was neural network can successfully below anterior cingulate cortex (ACC) groups 98% accuracy, distinguishing between DWM SWM pathway composition high average up 80%. Multidimensional scaling sensitivity maps further underscored reliability vs classification, based on consistency pathology, highlighting important role location constrains dysfunction, several shared anatomical markers. Large datasets be used expand training, validation, testing this potential automate high-resolution so across health disease. One Sentence Statement Histopathology-trained AI identify disruptions guide development diagnostics targeted therapeutics.

Язык: Английский

Процитировано

0
Task-irrelevant features in working memory alter current visual processing DOI Open Access

Hongqiao Shi,

Qiqi Zhang, Jianguo Zhou

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Окт. 29, 2024

Abstract Higher-level cognition depends on visual working memory (VWM), the ability of our brain to maintain and manipulate internal representations images that are no longer presented us. An important question in this field is whether VWM represented a sensory or nonsensory manner. Progress has been made understanding features be remembered, but representational nature memory-irrelevant unclear. Here, we used dual-task paradigm investigate how when interact with concurrent information. In series experiments, participants were asked perform search task (Experiment 1) perceptual discrimination (Experiments 2 3) involving memory- irrelevant feature while simultaneously holding other for later retrieval. Experiment 1 showed biases allocation attention color matching color. More importantly, degree VWM-biased decreased monotonically decreasing similarity, behavioral monotonic gradient profile resembled tuning curve feature-selective neurons early cortex. revealed biased ongoing perception, as indicated by shifted threshold. 3 further demonstrated perception occurs only at short delays not prolonged delays. Our results suggest analog limited period time areas where it was initially processed. extend recruitment theory VWM.

Язык: Английский

Процитировано

0
Review of structural neuroimaging and genetic findings in autism spectrum disorder – a clinical perspective DOI Creative Commons
Magdalena Budisteanu, Sorina Mihaela Papuc, Alina Erbescu

и другие.

Reviews in the Neurosciences, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 19, 2024

Abstract Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication restrictive, repetitive behaviors interests. ASDs form a heterogeneous group from clinical genetic perspective. Currently, diagnosis is based on the observation of individual’s behavior. The subjective nature behavioral diagnoses, context heterogeneity, contributes to significant variation age at ASD diagnosis. Early detection has been proved be critical ASDs, as early start appropriate therapeutic interventions greatly improve outcome for some children. Structural magnetic resonance imaging (MRI) widely used diagnostic work-up conditions, including mostly brain malformations detection. Recently, focus shifted towards quantitative MRI parameters, aiming identify subtle changes that may establish biomarkers. have strong component; deletions duplications several genomic loci strongly associated with risk. Consequently, multitude neuroimaging findings emerged recent years. association gross or morphometry volumes different defects potential bring new insights regarding normal development pathomechanisms various affecting brain. Still, implications these discoveries impact abnormalities structure function unclear. Here we review literature correlated most prevalent imbalances ASD, discuss impact.

Язык: Английский

Процитировано

0