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pervasive rs download
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Rett syndrome RS is characterized by profound cognitive (More) RS is characterized by profound cognitive impairment, communication dysfunction, stereotypic movements, and pervasive growth failure, which follow a period of apparently normal development for the first 6 to 18 months of life. All attempts to find a biologic marker were unsuccessful until the recent identification of a gene for RS . The diagnosis of RS, however, is based on clinical criteria, because not all girls with the RS phenotype have mutations in this gene (see below). These include normal pre- and perinatal periods and apparently normal development for the first several months of life. Thereafter, purposeful hand skills are lost along with regression of psychomotor and communication functions. These changes may occur as early as 6 months of age or as late as 2.5 years. Some girls may have features of the autistic spectrum disorders in the sense that eye contact is poor and attempts at socialization and communication are severely limited. Profound irritability without apparent explanation is often noted in these early years. Rett noted deceleration in the rate of head growth. This finding may appear as early as 3 months of age and may represent the first clinical sign of RS. It may also be profound, leading to microcephaly in some girls. Stereotypic hand movements emerge between the ages of 1 and 3 years and are characterized by handwashing, hand-wringing, or hand-clapping/hand-patting movements. Hand stereotypies occur typically but not exclusively in the midline. Occasionally, hand mouthing or picking at the hair or clothes is the predominant stereotypy. Most girls with RS are able to walk; however, gait is apraxic, broad based, wandering, and purposeless in character. Walking is often initiated by first stepping backward (retropulsion). Side-to-side rocking is common. (Less)
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