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What is known about autism: genes, brain, and behavior
Susan L Santangelo1, Katherine Tsatsanis
1Psychiatric & Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA. ssantang@psych.mgh.harvard.edu
American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice
|April 9, 2005
Summary
Autism is a neurodevelopmental disorder with strong genetic origins, influenced by environmental factors. Research explores genetic and environmental risks, neuropathology, and treatments, but no single cause or cure is identified.
Area of Science:
- Neuroscience
- Genetics
- Developmental Psychology
Background:
- Autism is a neurodevelopmental disorder with high heritability, part of pervasive developmental disorders (PDD).
- It is characterized by impairments in social interaction, language, and behavior, with significant phenotypic heterogeneity.
- Prevalence rates are approximately 0.1-0.2% for autism and 0.6% for PDD.
Purpose of the Study:
- To review current knowledge on genetic and environmental risk factors for autism.
- To discuss neuropathological findings and psychopharmacological treatments for autism.
- To explore emerging research methodologies in autism.
Main Methods:
- Review of genetic studies, including genome-wide linkage and candidate gene association studies.
- Analysis of neuropathological findings from postmortem studies, animal models, and neuroimaging.
- Examination of psychopharmacological interventions and their effects on core deficits and associated features.
Main Results:
- Genetic factors are significant, with linkage findings implicating chromosomes 7q, 2q, and 15q; candidate gene associations are largely unreplicated.
- Neuropathological research points to potential involvement of the cerebellum, amygdala, and cerebello-thalamo-cortical circuit; increased brain size is noted in some individuals.
- Current psychopharmacological treatments show limited effects on core autism deficits but may help with associated behaviors.
Conclusions:
- Autism is a complex disorder with multiple genetic and environmental influences, lacking a single biological marker.
- Further research using advanced techniques is needed to understand its underlying mechanisms and develop effective treatments.
- No current treatments significantly improve core social or language deficits in autism.