The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was a loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome.

Download full-text PDF

Source
http://dx.doi.org/10.1177/088307388600100208DOI Listing

Publication Analysis

Top Keywords

rett's syndrome
16
rett's
4
syndrome progression
4
progression symptoms
4
symptoms infancy
4
infancy childhood
4
childhood studies
4
studies girls
4
girls rett's
4
syndrome
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!