Review Article | Published:

Lessons learned from studying syndromic autism spectrum disorders

Nature Neuroscience volume 19, pages 14081417 (2016) | Download Citation

Abstract

Syndromic autism spectrum disorders represent a group of childhood neurological conditions, typically associated with chromosomal abnormalities or mutations in a single gene. The discovery of their genetic causes has increased our understanding of the molecular pathways critical for normal cognitive and social development. Human studies have revealed that the brain is particularly sensitive to changes in dosage of various proteins from transcriptional and translational regulators to synaptic proteins. Investigations of these disorders in animals have shed light on previously unknown pathogenic mechanisms leading to the identification of potential targets for therapeutic intervention. The demonstration of reversibility of several phenotypes in adult mice is encouraging, and brings hope that with novel therapies, skills and functionality might improve in affected children and young adults. As new research reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there will be opportunities for shared therapeutics for this class of conditions.

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Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

    • Yehezkel Sztainberg
    •  & Huda Y Zoghbi
  2. Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA.

    • Yehezkel Sztainberg
  3. Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.

    • Huda Y Zoghbi
  4. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, USA.

    • Huda Y Zoghbi

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The authors declare no competing financial interests.

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Correspondence to Huda Y Zoghbi.

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