Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Einspieler, C; Freilinger, M; Marschik, PB.
Behavioural biomarkers of typical Rett syndrome: moving towards early identification.
Wien Med Wochenschr. 2016; 166(11-12):333-337
Doi: 10.1007/s10354-016-0498-2
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- Leading authors Med Uni Graz
- Einspieler Christa
- Co-authors Med Uni Graz
- Marschik Peter
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- Abstract:
- The dynamic course of Rett syndrome (RTT) is still said to begin with a period of apparently normal development although there is mounting evidence that individuals with RTT show behavioural peculiarities and abnormalities during their infancy. Their spontaneous general movements are abnormal from birth onwards. Normal cooing vocalisation and canonical babbling (if at all required) are interspersed with abnormalities such as proto-vowel and proto-consonant alternations produced on ingressive airstream, breathy voice characteristics, and pressed or high-pitched vocalisations. The gestural repertoire is limited. Certain developmental motor and speech-language milestones are not at all acquired or show a significant delay. Besides abnormal blinking, repetitive and/or long lasting tongue protrusion, and bizarre smiling, there are already the first body and/or hand stereotypies during the first year of life. We are currently on a promising way to define a specific set of behavioural biomarkers pinpointing RTT.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- Child, Preschool -
- Diagnosis, Differential -
- Early Diagnosis -
- Female -
- Humans -
- Infant -
- Infant Behavior -
- Infant, Newborn -
- Language Development Disorders - diagnosis
- Rett Syndrome - diagnosis
- Find related publications in this database (Keywords)
- Infant
- Movement
- Verbal behavior
- Speech
- Phonation