Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant
نویسندگان
چکیده
منابع مشابه
Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome
Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12-24 months). Videotapes, obtained by paren...
متن کاملDiagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
The preserved speech variant is the milder form of Rett syndrome: affected girls show the same stages of this condition and by the second half of the first decade are making slow progress in manual and verbal abilities. They walk without help, and may be able to make simple drawings and write a few words. Most of them can speak in sentences. Autistic behavior can often be observed. We previousl...
متن کاملThree different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.
BACKGROUND AND AIMS This is the first study aiming to compare pre-diagnostic socio-communicative development of a female with typical Rett syndrome (RTT), a female with the preserved speech variant of RTT (PSV) and a control toddler. METHODS We analysed 1275 min of family videos at the participants' age between 9 and 24 months and used the Inventory of Potential Communicative Acts (IPCA) to d...
متن کاملCase Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye...
متن کاملA Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant
Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Although over 200 mutations types have been identified so far, nine of which the most frequent ones. A wide phenotypical heterogeneity is a well-known feature of the disease, with different clinical presentations, including the classical form...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2012
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2012.04123.x