Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Einspieler, C; Kerr, AM; Prechtl, HF.
Is the early development of girls with Rett disorder really normal?
PEDIAT RES. 2005; 57(5 Pt 1): 696-700.
Doi: 10.1203/01.PDR.0000155945.94249.0A
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- Führende Autor*innen der Med Uni Graz
- Einspieler Christa
- Co-Autor*innen der Med Uni Graz
- Prechtl Heinz
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- Abstract:
- An apparently normal early development was one of the initial criteria for classical Rett syndrome. However, several investigators considered Rett syndrome to be a developmental disorder manifesting very soon after birth. Videos of 22 Rett cases were assessed carefully for movements, posture, and behavior during the first 6 mo of life. All signs that deviated from the normal standard were recorded meticulously. Special attention was paid to the face, the hands, and body movements. A detailed analysis clearly demonstrated an abnormal quality of general movements (100%), tongue protrusion (62%), postural stiffness (58%), asymmetric eye opening and closing (56%), abnormal finger movements (52%), hand stereotypies (42%), bursts of abnormal facial expressions (42%), bizarre smile (32%), tremor (28%), and stereotyped body movements (15%). Our study is the first to apply specific standardized measures of early spontaneous movements to Rett infants, proving conclusively that the disorder is manifested within the first months of life. Although not necessarily specific, the signs that we have observed will be of value in alerting clinicians to the possibility of the diagnosis at an early stage, when intervention is likely to be most effective.
- Find related publications in this database (using NLM MeSH Indexing)
- Child Development -
- Chromosomal Proteins, Non-Histone - genetics
- DNA-Binding Proteins - genetics
- Developmental Disabilities - genetics
- Diagnosis, Differential - genetics
- Eye Movements - genetics
- Facial Expression - genetics
- Female - genetics
- Human Development - genetics
- Humans - genetics
- Infant - genetics
- Infant, Newborn - genetics
- Methyl-CpG-Binding Protein 2 - genetics
- Motor Skills - genetics
- Phenotype - genetics
- Repressor Proteins - genetics
- Rett Syndrome - diagnosis
- Stereotyped Behavior - diagnosis
- Video Recording - diagnosis