Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

نویسندگان

  • Peter B Marschik
  • Katrin D Bartl-Pokorny
  • Helen Tager-Flusberg
  • Walter E Kaufmann
  • Florian Pokorny
  • Tobias Grossmann
  • Christian Windpassinger
  • Erwin Petek
  • Christa Einspieler
چکیده

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 delineate their repertoires of communicative forms and functions. RESULTS The results revealed different profiles for the three different conditions. The repertoire of communicative gestures and (pre)linguistic vocalizations was most comprehensive in the control toddler, followed by the female with PSV and the female with RTT. CONCLUSION These findings contribute to the growing knowledge about early developmental abnormalities in RTT. In order to define distinctive profiles for typical and atypical RTT and evaluate their specificity, a larger body of evidence is needed.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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 کامل

Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.

This study compared early markers of social reciprocity in children with typical Rett syndrome (RTT) and in those with the preserved speech variant (PSV) of RTT. Retrospective video analysis of 10 toddlers with typical RTT and five with PSV investigated participants' orientation to their name being called between the ages of 5 and 24 months, prior to their diagnosis. From analysis of the record...

متن کامل

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

متن کامل

Early socio-communicative forms and functions in typical Rett syndrome.

Rett syndrome (RTT) is a severe neurological disorder characterized by a developmental regression in motor and speech-language domains. There is, however, limited research on socio-communicative development of affected children before the onset of regression. We analyzed audio-video recordings made by parents of six 9- to 12-month old girls later diagnosed with typical RTT, applying the Invento...

متن کامل

Case 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 کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Developmental neurorehabilitation

دوره 17 1  شماره 

صفحات  -

تاریخ انتشار 2014