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Rett Syndrome – Past and Present

The Child Advocate is devoted to children and the parents and professionals that work with them and advocate for them. Rett Syndrome has long been a problem for children and their families. Part of this information is presented with the permission of Lindsay D. de Flesco of The Penn State College of Medicine. The information presented at this site is for general use only and is not intended to provide personal advice or substitute for the advice of a qualified professional. If you have questions about the information presented here, please consult a physician, the resources listed or other professional in your area.

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Rett’s Disorder – Past and Present

Rett’s Disorder – Past and Present Lindsay D. de Flesco Penn State College of Medicine 2001 Introduction n     Pervasive Developmental Disorder (PDD) n    Key Features: n    Delay or loss of appropriate social skills, language, and behavior n    Affects many developmental areas, starting early and persisting throughout life n    Examples: n    Rett’s Disorder, Autistic Disorder, Childhood Disintegrative Disorder, Asperger’s Disorder, Pervasive Developmental Disorder Not Otherwise Specified History n      1966 – Dr. Andreas Rett of Austria observed two females with unusual hand-wringing motions n      1983 – Dr. Bengt Hagberg of Sweden published comprehensive review of Rett’s Disorder in an English neurology journal n      1984 – First International Rett Syndrome Conference in Vienna n      1985 – Dr. Hugo Moser organized first North American International Rett Syndrome Conference in Baltimore, MD; International Rett Syndrome Association established DSM-IV: Diagnosis of Rett’s Disorder n      A.  All of the following: n      (1) apparently normal prenatal and perinatal development n      (2) apparently normal psychomotor development through the first 5 months after birth n      (3) normal head circumference at birth n      B.  Onset of all of the following after the period of normal development: n      (1) deceleration of head growth between ages 5 and 48 months n      (2) loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand-wringing or hand washing) n      (3) loss of social engagement early in the course (although often social interaction develops later) n      (4) appearance of poorly coordinated gait or trunk movements n      (5) severely impaired expressive and receptive language development with severe psychomotor retardation Differential Diagnosis n      Rett’s Disorder...
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