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Q: FRAX testing for Autistic Boys?

19 Feb, 08 | by Bob Phillips

FMR1 geneYou diagnose a 5-year-old with Autistic spectrum disorder. His examination is unremarkable and there is no family history of learning difficulties. Should you perform a molecular genetic screen for FMR1 mutations (fragile X)?


Unanswered Question: Do children with autism and developmental regression need EEG investigation in the absence of clinical seizures?

31 Jul, 07 | by BMJ

John diagnosed with autism at 18 months old presents to your developmental clinic at 30 months old. His mother reports developmental regression of previously acquired developmental milestones. He has now lost his previously acquired language skills and only makes incomprehensible babbles. He is otherwise clinically well and does not have any clinical seizures. You wonder whether an electroencephalogram (EEG) should be performed on John to rule out possible underlying subclinical epilepsy that may contribute to his developmental regression.


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