Journal article

The diagnosis of autism in a female: could it be Rett syndrome?

Deidra J Young, Ami Bebbington, Alison Anderson, David Ravine, Carolyn Ellaway, Alpana Kulkarni, Nick de Klerk, Walter E Kaufmann, Helen Leonard

European Journal of Pediatrics | Published : 2008


The overlap between autism and Rett syndrome clinical features has led to many cases of Rett syndrome being initially diagnosed with infantile autism or as having some autistic features. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, nonpurposeful stereotypic hand movements. The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether or not a diagnosis of autism had been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups. This study made use of a to..

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