Multimodal Deep Learning in Early Autism Detection—Recent Advances and Challenges DOI Creative Commons
Sheril Sophia Dcouto,

J. Pradeepkandhasamy

Published: Jan. 23, 2024

Autism spectrum disorder (ASD) is a global concern, with prevalence rate of approximately 1 in 36 children according to estimates from the Centers for Disease Control and Prevention (CDC). Diagnosing ASD poses challenges due absence definitive medical test. Instead, doctors rely on comprehensive evaluation child's developmental background behavior reach diagnosis. Although can occasionally be identified aged 18 months or younger, reliable diagnosis by an experienced professional typically made age two. Early detection crucial timely interventions improved outcomes. In recent years, field early has been greatly impacted emergence deep learning models, which have brought about revolution improving accuracy efficiency detection. The objective this review paper examine progress through utilization multimodal techniques. analysis revealed that integrating multiple modalities, including neuroimaging, genetics, behavioral data, key achieving higher It also evident that, while neuroimaging data holds promise potential contribute detection, it most effective when combined other modalities. Deep their ability analyze complex patterns extract meaningful features large datasets, offer great addressing challenge Among various models used, CNN, DNN, GCN, hybrid exhibited encouraging outcomes ASD. highlights significance developing accurate easily accessible tools utilize artificial intelligence (AI) aid healthcare professionals, parents, caregivers symptom recognition. These would enable interventions, ensuring necessary actions are taken during initial stages.

Language: Английский

The cell biology of synapse formation DOI Creative Commons
Thomas C. Südhof

The Journal of Cell Biology, Journal Year: 2021, Volume and Issue: 220(7)

Published: June 4, 2021

In a neural circuit, synapses transfer information rapidly between neurons and transform this during transfer. The diverse computational properties of are shaped by the interactions pre- postsynaptic neurons. How assembled to form how specificity synaptic connections is achieved, largely unknown. Here, I posit that adhesion molecules (SAMs) organize synapse formation. Diverse SAMs collaborate achieve astounding plasticity synapses, with each SAM contributing different facets. orchestrating assembly, likely act as signal transduction devices. Although many candidate known, only few appear have major impact on Thus, limited set collaborating suffices account for Strikingly, several genetically linked neuropsychiatric disorders, suggesting impairments in assembly instrumental pathogenesis disorders.

Language: Английский

Citations

252
Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations DOI Creative Commons
Brian Tsang, Iva Pritišanac, Stephen W. Scherer

et al.

Cell, Journal Year: 2020, Volume and Issue: 183(7), P. 1742 - 1756

Published: Dec. 1, 2020

Language: Английский

Citations

226
Genomic architecture of autism from comprehensive whole-genome sequence annotation DOI Creative Commons
Brett Trost, Bhooma Thiruvahindrapuram,

Ada J. S. Chan

et al.

Cell, Journal Year: 2022, Volume and Issue: 185(23), P. 4409 - 4427.e18

Published: Nov. 1, 2022

Language: Английский

Citations

155
Abnormal Cerebellar Development in Autism Spectrum Disorders DOI Open Access
Meike E. van der Heijden, Jason S. Gill, Roy V. Sillitoe

et al.

Developmental Neuroscience, Journal Year: 2021, Volume and Issue: 43(3-4), P. 181 - 190

Published: Jan. 1, 2021

Autism spectrum disorders (ASD) comprise a group of heterogeneous neurodevelopmental conditions characterized by impaired social interactions and repetitive behaviors with symptom onset in early infancy. The genetic risks for ASD have long been appreciated: concordance diagnosis may be as high 90% monozygotic twins 30% dizygotic twins, hundreds mutations single genes associated ASD. Nevertheless, only 5–30% cases can explained known cause, suggesting that genetics is not the factor at play. More recently, several studies reported up to 40% infants cerebellar hemorrhages lesions are diagnosed These overrepresented severely premature infants, who born during period highly dynamic development encompasses an approximately 5-fold size expansion, increase structural complexity, remarkable rearrangements local neural circuits. incidence ASD-causing this window supports hypothesis abnormal primary risk However, links between developmental deficits cerebellum neurological dysfunctions underlying completely understood. Here, we discuss key processes development, what happens circuit when interrupted, how function leads cognitive impairments. We explore central question: Is important generation brain or part itself?

Language: Английский

Citations

73
Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands DOI Creative Commons
Kealan Pugsley, Stephen W. Scherer, Mark A. Bellgrove

et al.

Molecular Psychiatry, Journal Year: 2021, Volume and Issue: 27(1), P. 710 - 730

Published: May 17, 2021

Although the full aetiology of autism spectrum disorder (ASD) is unknown, familial and twin studies demonstrate high heritability 60-90%, indicating a predominant role genetics in development disorder. The genetic architecture ASD consists complex array rare common variants all classes variation usually acting additively to augment individual risk. relative contribution heredity persists despite selective pressures against classic autistic phenotype; phenomenon thought be explained, part, by incidence spontaneous (or de novo) mutations. Notably, environmental exposures attributed as salient risk factors for may play causal emergence deleterious novo variations, with several ASD-associated agents having significant mutagenic potential. To explore this hypothesis, review article assesses published epidemiological data evidence derived from assays mutagenicity, both vivo vitro, determine likely such augmenting liability ASD. Broadly, these were observed elicit genomic alterations through one or combination of: (1) direct interaction material; (2) impaired DNA repair; (3) oxidative damage. However, phenotype cannot determined without further analysis. comprehensive prospective birth cohorts genome sequencing essential forming causal, mechanistic account mutations that links exposure, genotypic alterations, phenotypic consequences.

Language: Английский

Citations

73
Reconciling the seemingly irreconcilable: The WHO's ICF system integrates biological and psychosocial environmental determinants of autism and ADHD DOI Creative Commons
Sven Bölte, Wenn Lawson, Peter B. Marschik

et al.

BioEssays, Journal Year: 2021, Volume and Issue: 43(9)

Published: April 1, 2021

Abstract Neurodevelopmental disorders (NDDs), such as autism and ADHD, are behaviorally defined adaptive functioning difficulties arising from variations, alterations atypical maturation of the brain. While it is widely agreed that NDDs complex conditions with their presentation functional impact underpinned by diverse genetic environmental factors, contemporary polarizing debate has focused on appropriateness biomedical opposed to neurodiverse paradigm in framing conceptions these conditions. Despite being largely overlooked both research practice, International Classification Functioning Disability Health (ICF) endorsed World Organization 2001 views dynamically, offering a framework for investigating, assessing treating holistically. Exemplified we argue ICF provides not only multitude opportunities accounting determinants researching clinically managing NDDs, but harmonizing seemingly irreconcilable paradigms. Also see video abstract here: https://youtu.be/YwuWPDUOs5k

Language: Английский

Citations

65
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology DOI
Sébastien Jacquemont, Guillaume Huguet, Marieke Klein

et al.

American Journal of Psychiatry, Journal Year: 2022, Volume and Issue: 179(3), P. 189 - 203

Published: March 1, 2022

Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, beyond associations with categorical diagnoses, effects on dimensional traits remain unclear many RGDs. The nature and specificity RGD cognitive behavioral an area investigation: are frequently associated more than one condition, those studied affect, varying degrees, broad range developmental functions. Although have large effects, phenotypic expression typically influenced by additional environmental factors. There emerging evidence that using polygenic scores individuals offers opportunities refine prediction, thus allowing identification at greatest illness. translation into clinic hindered roadblocks, which include limited genetic testing clinical psychiatry, lack guidelines following RGDs, who high developing symptoms. Genes Mental Health Network (G2MH) newly funded National Institute initiative will collect, share, analyze large-scale data sets combining measures psychopathology spanning diverse populations geography. authors present here most recent understanding conditions discuss strategies be pursued within G2MH network, as well how expected results can translated practice improve patient outcomes.

Language: Английский

Citations

47
Mental health challenges faced by autistic people DOI
Meng‐Chuan Lai

Nature Human Behaviour, Journal Year: 2023, Volume and Issue: 7(10), P. 1620 - 1637

Published: Oct. 20, 2023

Language: Английский

Citations

27
MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention DOI Creative Commons
Bettina Weigel, Jana F. Tegethoff, Sarah D. Grieder

et al.

Molecular Psychiatry, Journal Year: 2023, Volume and Issue: 28(5), P. 2122 - 2135

Published: Feb. 14, 2023

Abstract MYT1L is an autism spectrum disorder (ASD)-associated transcription factor that expressed in virtually all neurons throughout life. How mutations cause neurological phenotypes and whether they can be targeted remains enigmatic. Here, we examine the effects of deficiency human mice. Mutant mice exhibit neurodevelopmental delays with thinner cortices, behavioural phenotypes, gene expression changes resemble those ASD patients. target genes, including WNT NOTCH , are activated upon depletion their chemical inhibition rescue delayed neurogenesis vitro. also causes upregulation main cardiac sodium channel, SCN5A neuronal hyperactivity, which could restored by shRNA-mediated knockdown or overexpression postmitotic neurons. Acute application channel blocker, lamotrigine, rescued electrophysiological defects vitro behaviour vivo. Hence, mutation both developmental defects. However, acute intervention normalise resulting adulthood.

Language: Английский

Citations

25
Prenatal environmental risk factors for autism spectrum disorder and their potential mechanisms DOI Creative Commons
Chloe J. Love, Luba Sominsky, Martin O’Hely

et al.

BMC Medicine, Journal Year: 2024, Volume and Issue: 22(1)

Published: Sept. 16, 2024

Autism spectrum disorder (ASD) is a neurodevelopmental that globally increasing in prevalence. The rise of ASD can be partially attributed to diagnostic expansion and advocacy efforts; however, the interplay between genetic predisposition modern environmental exposures likely driving true increase incidence. A range evidence indicates prenatal are critical. Infection during pregnancy, gestational diabetes, maternal obesity established risk factors for ASD. Emerging areas research include effects use selective serotonin reuptake inhibitors, antibiotics, exposure toxicants pregnancy on brain development subsequent underlying pathways these remain uncertain, with varying levels implicating immune dysregulation, mitochondrial dysfunction, oxidative stress, gut microbiome alterations, hormonal disruptions. This narrative review assesses contributing associated mechanisms as potential targets novel prevention strategies.

Language: Английский

Citations

10