Difficulties of Finding Genes for Autism
Professor Daniel Geschwind relates difficulties in studying a complex disorder like autism, where no two autistic individuals present with precisely the same symptoms.
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 don’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 a, let’s say, an autistic child who is not speaking, his siblings may have some form of mild language delay, but still be non-autistic, but we can use that information and measure that to have more power to identify genes.
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Professor Daniel Geschwind explains that studying endophenotypes is a useful way to understand the complexities of autism.
Professor Daniel Geschwind discusses the importance of his group's discovery of an autism locus on chromosome 17.
Brain scans of close relatives of children with autism reveal clear abnormalities that parallel those seen in autism.
Doctor Anil Malhotra discusses emerging research relating specific genes to positive (DISC1) and negative (e.g. dysbindin) symptoms of schizophrenia.
Professor Daniel Geschwind discusses the location of the autism locus.
The MET gene is important to brain development, particularly in the neocortex and cerebellum.
Doctor Anil Malhotra discusses endophenotype strategies for studying schizophrenia, which can examine neurocognitive function or brain-imaging.
Professor David Skuse explains that it is highly probable that many different genes cause autism, with each gene contributing a small part to the symptomatology.
An overview of autism-related content on Genes to Cognition Online.
Exploring the possiblities of 'bringing back' the brain of a child with autism.