Autism: Many Genes, Common Pathways?

Neurogenetics Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Cell (Impact Factor: 32.24). 11/2008; 135(3):391-5. DOI: 10.1016/j.cell.2008.10.016
Source: PubMed


Autism is a heterogeneous neurodevelopmental syndrome with a complex genetic etiology. It is still not clear whether autism comprises a vast collection of different disorders akin to intellectual disability or a few disorders sharing common aberrant pathways. Unifying principles among cases of autism are likely to be at the level of brain circuitry in addition to molecular pathways.

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    • "ASD is a highly variable neurodevelopmental disorder[2]that first appears during infancy or childhood, and generally follows a steady course without remission[3]. Children with autism may be severely impaired in some respects but normal or even superior in others[4]. "

    Full-text · Article · Jan 2016
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    • "Autism is now called ' ' spectrum disorder ' ' because of the recognition that its manifestation and severity displays great heterogeneity depending on intellectual ability , associated symptoms , possible etiology and developmental level ( American Psychiatric Association , 2013 ) . Although there is clearly a genetic basis to ASD , the majority of cases have unknown causes ( Abrahams and Geschwind , 2008 ; Geschwind , 2008 ) . It is , moreover , now widely accepted that ASD is a neurobiological disorder , but specific biological markers are yet to be established ( McPheeters et al . "
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    ABSTRACT: Magnetic resonance spectroscopy (MRS) from voxels placed in the left anterior cingulate cortex (ACC) was measured from 14 boys with Autism Spectrum Disorder (ASD) and 24 gender and age-matched typically developing (TD) control group. Our main aims were to compare the concentration of γ-aminobutyric acid (GABA) between the two groups, and to investigate the relationship between brain metabolites and autism symptom severity in the ASD group. We did find a significant negative correlation in the ASD group between Autism Spectrum Screening Questionnaire (ASSQ) and GABA+/Cr, which may imply that severity of symptoms in ASD is associated with differences in the level of GABA in the brain, supporting the excitatory/inhibitory (E/I) imbalance theory. However we did not find a significant difference between the two groups in GABA levels.
    Full-text · Article · Jun 2015 · Frontiers in Human Neuroscience
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    • "etiology (Chapters 2.1–2.4). Currently, there are several dozen genes and loci known to contribute to ASD and accounting for at most 30% of ASD cases, with more loci being discovered (Abrahams and Geschwind, 2008; Sakai et al., 2011; see also Chapters 2.1–2.4). p0025 How can a multitude of genetic variants cause the disease specificity of ASD? Emerging views of the field indicate that: 1. Functions of the susceptible genes must converge onto a few common molecular pathways that subserve the observed ASD phenotypes; 2. The core features of ASD are the most difficult tasks that involve association of multiple areas, and therefore any mild global impairment has the greatest impact on these tasks while sparing the simpler ones; and/or 3. The expression patterns of the affected genes collectively affect specific brain regions that give rise to the normal functions which are disrupted in ASD. "

    Full-text · Dataset · Feb 2014
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