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Interestingly the Cell study Abstract indicates that Rett syndrom was used as an autism spectrum genetic model: Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we developed a culture system using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts. RTT patients' iPSCs are able to undergo X-inactivation and generate functional neurons. Neurons derived from RTT-iPSCs had fewer synapses, reduced spine density, smaller soma size, altered calcium signaling and electrophysiological defects when compared to controls. Our data uncovered early alterations in developing human RTT neurons. Finally, we used RTT neurons to test the effects of drugs in rescuing synaptic defects. Our data provide evidence of an unexplored developmental window, before disease onset, in RTT syndrome where potential therapies could be successfully employed. Our model recapitulates early stages of a human neurodevelopmental disease and represents a promising cellular tool for drug screening, diagnosis and personalized treatment. The DSM-5 working groups have recommended that Rett's Disorder not be included in the DSM-5 . The rationale for excluding Rett's Disorder is based on it's very specific and known etiology and the brevity of the autism like symptoms of the condition Rett's Disorder patients often have autistic symptoms for only a brief period during early childhood, so inclusion in the autism spectrum is not appropriate for most individuals. Like other disorders in the DSM, Autism Spectrum Disorder (ASD) is defined by specific sets of behaviors and not by etiology (at present) so inclusion of a specific etiologic entity, such as Rett's Disorder is inappropriate. Given the DSM-5 position on excluding Rett's Disorder from the Autism Spectrum Disorder it is difficult for this humble dad to see how a genetic model based on Rett's can be said to result in a replication of ASD in a dish. I absolutely support autism research,including stem cell research, but the claim itself blaring in news headlines that autism has been replicated in a petri dish is in need of a good scrubbing with some soap and water. |
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