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.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Uchino J,Suzuki M,Hoshino K,Nomura Y,Segawa Mdoi
10.1016/s0387-7604(01)00367-9keywords:
subject
Has Abstractpub_date
2001-12-01 00:00:00pages
S233-5eissn
0387-7604issn
1872-7131pii
S0387760401003679journal_volume
23 Suppl 1pub_type
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