Year: 2013
Type: article
Study design: Observational Study
Abstract: 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.
Source: Clinical Genetics
DOI: 10.1111/cge.12110
Authors: JYL Lee, H Leonard, JP Piek, J Downs
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: International Rett Syndrome Foundation, Institut National de la Santé et de la Recherche Médicale, National Institutes of Health, Medical Research Council, National Health and Medical Research Council, National Medical Research Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development
OpenAlex ID: W1558788711