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

Young, Deidra J., Bebbington, Ami, Anderson, Alison, Ravine, David, Ellaway, Carolyn, Kulkarni, Alpana, De Klerk, Nick, Kaufmann, Walter E. and Leonard, Helen (2008) The diagnosis of autism in a female: could it be Rett syndrome?. European Journal of Pediatrics, 167 6: 661-669. doi:10.1007/s00431-007-0569-x

Author Young, Deidra J.
Bebbington, Ami
Anderson, Alison
Ravine, David
Ellaway, Carolyn
Kulkarni, Alpana
De Klerk, Nick
Kaufmann, Walter E.
Leonard, Helen
Title The diagnosis of autism in a female: could it be Rett syndrome?
Journal name European Journal of Pediatrics   Check publisher's open access policy
ISSN 0340-6199
Publication date 2008-06
Sub-type Article (original research)
DOI 10.1007/s00431-007-0569-x
Open Access Status
Volume 167
Issue 6
Start page 661
End page 669
Total pages 9
Place of publication Heidelberg, Germany
Publisher Springer
Language eng
Formatted abstract
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 total of 313 cases recorded in two databases: the Australian Rett Syndrome Database (ARSD) and the International Rett Syndrome Phenotype Database (InterRett). Cases with an initial diagnosis of autism had significantly milder Rett syndrome symptoms and were more likely to remain ambulant, to have some functional hand use and not to have developed a scoliosis. Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age. We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome.
Keyword Autism
Autistic spectrum disorders
Rett syndrome
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Published online 8 August 2007

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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