Each of the authors has no conflict of interest to report.
Early development and regression in Rett syndrome
Article first published online: 11 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 6, pages 572–576, December 2013
How to Cite
Early development and regression in Rett syndrome., , , .
- Issue published online: 28 OCT 2013
- Article first published online: 11 MAR 2013
- Accepted manuscript online: 25 JAN 2013 01:17AM EST
- Manuscript Revised: 21 JAN 2013
- Manuscript Accepted: 21 JAN 2013
- Manuscript Received: 2 DEC 2012
- National Institutes of Health. Grant Number: 5R01HD043100-05
- National Health and Medical Research Council (NHMRC). Grant Numbers: 303189, 353514, 572568
- autistic symptoms;
- Rett syndrome
This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome.