Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

• Published in: Journal of autism and developmental disorders Vol. 39; no. 6; pp. 958 - 961
• Main Authors: Marschik, Peter B., Einspieler, Christa, Oberle, Andreas, Laccone, Franco, Prechtl, Heinz F. R.
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.06.2009; Springer; Springer Nature B.V
• Subjects: Age Factors; Autism; Behavioral Science and Psychology; Biological and medical sciences; Body Weight; Child; Child and School Psychology; Child clinical studies; Child Development; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Developmental disorders; Eye Movements; Facial Expression; Female; Females; Genetic Disorders; Genetics; Humans; Infantile autism; Language Acquisition; Language Skills; Letter to the Editor; Medical sciences; Motor Skills; Neurology; Neurosciences; Pediatrics; Physiology; Pregnancy; Prospective Studies; Psychology; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Public Health; Retrospective Studies; Rett Syndrome - diagnosis; Rett Syndrome - psychology; Speech; Stereotyped Behavior; Genetic disorder; MECP2; Stereotypies; Language; Development; Autism spectrum; General movements; Affect affectivity; Emotional expression; Infant; Developmental disorder; Degenerative disease; Face; Motricity; Child; Human; Preschool age; Nervous system diseases; General movement; Cerebral disorder; Genetic disease; Case study; Autism; School age; Central nervous system disease; Body movement; Rett syndrome; Speech; Stereotypy; Facial expression
• ISSN: 0162-3257; 1573-3432; 1573-3432
• DOI: 10.1007/s10803-009-0703-x

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.