Document Detail

Early development and regression in Rett syndrome.
MedLine Citation:
PMID:  23347273     Owner:  NLM     Status:  Publisher    
This study utilised developmental profiling to examine symptom presentation in 14 girls with genetically confirmed Rett Syndrome and whose family was participating in the Australian Rett Syndrome or InterRett database. Regression was mostly characterised 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 of 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.
Joanne Y L Lee; Helen Leonard; Jan P Piek; Jenny Downs
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-25
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons A/S.
School of Psychology and Speech Pathology and Curtin Health Innovation Research Institute, Curtin University.
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