Professor Daniel Geschwind explains that studying endophenotypes is a useful way to understand the complexities of autism.
One of the difficulties with studying a very complex disorder such as autism is that it is a very heterogeneous disorder, that is, every child who has it looks a little bit different from each other, it is very complex. Now we donâ€™t know that, for example, two children with autism are going to have the same genetic basis, but there are all these components of the disorder, called endophenotypes, that is, things that we can measure, such as language and social behavior. Even things that we can measure in brain structure, for example, that may be closer to an underlying biological cause, that is, or a genetic cause, that we can measure in those children, we can measure in the unaffected relatives. Generally these endophenotypes, if they are going to be genetically useful, are seen in a kind of intermediate form in the unaffected children. So that if you take, letâ€™s say, an autistic child who is not speaking, their siblings may have some form of mild language delay, but still be non-autistic. We can use that information and measure that to have more power to identify genes.
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Professor Daniel Geschwind relates difficulties in studying a complex disorder like autism, where no two autistic individuals present with precisely the same symptoms.
Professor Daniel Geschwind discusses the location of the autism locus.
Doctor Anil Malhotra discusses endophenotype strategies for studying schizophrenia, which can examine neurocognitive function or brain-imaging.
Brain scans of close relatives of children with autism reveal clear abnormalities that parallel those seen in autism.
Professor Daniel Geschwind discusses the importance of his group's discovery of an autism locus on chromosome 17.
Professor James Potash describes how endophenotypes are used to study bipolar disorder. Endophenotypes are essentially subtypes of larger symptoms.
Professor Daniel Geschwind describes resaerch that shows that keeping the brain active can build up resistance to Alzheimer's disease.
Professor Daniel Geschwind explains that cortical asymmetry refers to differences between the right and left side of the brain. This relates to gene expression.
Doctor Anil Malhotra discusses emerging research relating specific genes to positive (DISC1) and negative (e.g. dysbindin) symptoms of schizophrenia.
Professor Pat Levitt explains that the sooner autism is diagnosed, the more effective the intervention.