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 opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life.
Marschik
Peter B
PB
Institute of Physiology (Developmental Physiology and Developmental Neurology), Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, Graz 8010, Austria.
Einspieler
Christa
C
Oberle
Andreas
A
Laccone
Franco
F
Prechtl
Heinz F R
HF
D000367:Age Factors; D002648:Child; D002657:Child Development; D005133:Eye Movements; D005149:Facial Expression; D005260:Female; D006801:Humans; D009048:Motor Skills; D011446:Prospective Studies; D012189:Retrospective Studies; D015518:Rett Syndrome / Q000175:diagnosis / Q000523:psychology*; D013060:Speech; D013239:Stereotyped Behavior; D014741:Video Recording