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Link between rare cancer neurofibromatosis and autism discovered

Almost a quarter of people afflicted with the rare cancer neurofibromatosis type 1 (NF1) are also diagnosed with autism according to a new study published in the journal Pediatrics. This rare familial disorder, of the family of RASopathies, enhances cancer-related signaling through the RAS protein that is crucial in cell growth and development. The team of researchers delivered a questionnaire to roughly 50% children of all 207 children affected by NF1 in Mancheter, UK. They found that almost 38 children scored above the cut-off score for autism, 48 scored lower and 29 were in the moderate range. An in-depth assessment showed that 47 children including 23 who had scored above the cut-off score responded positively to the analysis that diagnosis autism. To sum it up, a whopping 45% children having neurofibromatosis showed some features of autism and almost 25% had a full diagnosis of autism. The findings of the study support the theory of RAS disruption playing a role in autism and are a push for all physicians to screen children diagnosed with NF1 for autism too.

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