Abstract
Ninety-nine cases of Rett syndrome (RTT) diagnosed clinically (age range 3 years 6
months to 29 years 9 months) were evaluated for the ability of language. The presence
of meaningful words, vocabularies, and ages at the start and disappearance of speech
were assessed. Phenotype/genotype correlation was evaluated in 22 cases in whom mutations
of the genes of methyl-CpG-binding protein 2 (MECP2) existed. Fifty-five cases (55.5%)
could speak some words, and of them eight cases (14.5%) spoke two-word sentences.
No case had more than 40 words. The vocabularies were mainly bilabial words, known
as the characteristics of the initial words in normal children. They began to utter
a word between 12 and 48 months, and most of them (85.4%) before 20 months. Those
who spoke two-word sentence(s) began to utter a word earlier (10.4±3.7 months) than
others (17.1±9.8 months). Thirty-three cases lost their word(s) in 12–36 months. Among
22 gene-proven cases two cases with mutation of R133C and two cases with R294X had
word(s), but another two cases with T158M had not. In RTT a delay in the neuronal
systems involved in normal speech development was suggested and its severity seemed
to depend on the loci of mutation.
Keywords
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Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
