One of the hallmarks of autism is a problem with speech and communication; autistic children can be speech-delayed by months, years, or never speak.
While there are no known causes of autism, research into causation is ongoing. One such causal connection being explored is a genetic cause of autism.
A study at the David Geffen School of Medicine at UCLA has uncovered genetic connections between autism and speech delays. Funded by the National Institute of Mental Health, National Institute of Neurological Disease and Stroke, Cure Autism Now Foundation and UCLA Center for Autism Research and Treatment, the study was lead by Dr. Daniel Geschwind; the findings of the study were published in The American Journal of Human Genetics’ January 10, 2008, online edition.
This study follows an earlier one of DNA samples from families with an autistic child; that study revealed that autism was connected to a specific region of Chromosome 7 (called 7q35). In the next study, researchers studied genes from DNA samples from 172 families. The region’s implication in autism was confirmed by a subsequent study.
A key finding, according to Dr. Geschwind, is that the gene the research isolated, called contactin-associated protein-like 2 (CNTNAP2), “not only may predispose children to autism, [but . . .] also may influence the development of brain structures involved in language, providing a tangible link between genes, the brain and behavior.”
Postdoctoral fellow Brett Abrahams, who led part of the research, states that the research discovered that “CNTNAP2 concentrated in the brain’s structures that are involved in higher cognition gives us strong clues about how its disruption might adversely shape brain development, including speech and language”
Another finding was statistical evidence that the gene is strongest in families with autistic boys than in those with girls or with boys and girls.
Further effects of the study may be discoveries about whether CNTNAP2 has a role in language development in normally developing children.
While research into the causes of autism is ongoing and no one cause has been found, research such as this brings us closer to an understanding of this complex disorder.
References and Additional Resources:
Read more about the study from the National Institutes of Heath here and from the UCLA newsroom here.