Current perspectives in autism spectrum disorder: from genes to therapy
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Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with high heritability and both phenotypic and genetic heterogeneity. To date, mutations in hundreds of genes have been associated to varying degrees with increased ASD risk. A better understanding of the functions of these genes and whether they fit together in functional groups or impact similar neuronal circuits is needed to develop rational treatment strategies. We will review current areas of emphasis in ASD research, starting from human genetics and exploring how mouse models of human mutations have helped identify specific molecular pathways (protein synthesis and degradation, chromatin remodeling, intracellular signaling), which are linked to alterations in circuit function and cognitive/social behavior. We will conclude by discussing how we can leverage the findings on molecular and cellular alterations found in ASD to develop therapies for neurodevelopmental disorders.
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These results may inform clinical therapies by providing further physiological foundation for JA-based behavior interventions that have been shown to significantly improve outcome in children with ASD.
“These results may inform clinical therapies by providing further physiological foundation for JA-based behavior interventions that have been shown to significantly improve outcome in children with ASD (Kasari et al. 2012; Chahrour et al. 2016).”
From Joint attention and brain functional connectivity in infants and toddlers (2017) · cites this paper as Chahrour et al. 2016
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MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats
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Joint attention and brain functional connectivity in infants and toddlers
Eggebrecht, A. T., Elison, J. T., Feczko, E., Todorov, A., Wolff, J. J., Kandala, S., Adams, C. M., Snyder, A. Z., Lewis, J. D., Estes, A. M., et al. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhw403 · Cited by 156 · see citing works
- Authors
- Chahrour, M., O'Roak, B. J., Santini, E., Samaco, R. C., Kleiman, R. J., & Manzini, M. C.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- New York University (US)
- Baylor College of Medicine (US)
- Boston Children's Hospital (US)
- George Washington University (US)
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2016-11-09
- Volume
- 36
- Issue
- 45
- Pages
- 11402-11410
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC5125207
- OpenAlex
- W2549936564
- Cited by
- 54
- References
- 134
- Citations by year
- 2025: 3 · 2024: 3 · 2023: 5 · 2022: 2 · 2021: 6 · 2020: 5 · 2019: 6 · 2018: 12 · 2017: 10 · 2016: 1
- FWCI
- 1.02
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD090255)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- autism spectrum disorder, genetic heterogeneity, heritability, genetic mutations, protein synthesis and degradation, chromatin remodeling, intracellular signaling, neural circuits, social behavior, cognitive function, neurodevelopmental disorders
- MeSH terms
- Autism Spectrum Disorder, Brain, Genetic Markers, Genetic Testing, Humans, Nerve Tissue Proteins, Genetic Therapy, Treatment Outcome, Evidence-Based Medicine, Genetic Predisposition to Disease, Molecular Targeted Therapy
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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