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SHR Neuro Krebs Kardio Lipid

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. [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Einspieler Christa
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

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