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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...