title: Behavioural biomarkers of typical Rett syndrome: moving towards early identification.
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.
authors: Research Unit iDN, interdisciplinary Developmental Neuroscience, Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, 8010, Graz, Austria. christa.einspieler@medunigraz.at.
authors: Christa
authors: http://orcid.org/0000-0002-7875-0632
authors: C
authors: Einspieler
authors: Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors: Michael
authors: M
authors: Freilinger
authors: Research Unit iDN, interdisciplinary Developmental Neuroscience, Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, 8010, Graz, Austria.|Center for Neurodevelopmental Disorders, Department of Women's and Children's Health (KIND), Karolinska Institutet, Stockholm, Sweden.
authors: Peter B
authors: PB
authors: Marschik
mesh_terms: D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D018730:Infant Behavior; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000175:diagnosis*; D015518:Rett Syndrome / Q000175:diagnosis*
keywords: Infant; Movement; Phonation; Speech; Verbal behavior