Other Pervasive Developmental Disorders

Snapshot

• A 4-year-old girl presents to your office with repetitive wringing of her hands.  Upon interviewing this patient you notice her verbal skills are limited and she has a vocabulary of roughly 100 words.  She also does not participate in group play with other children.  In addition, she is currently struggling in school and is unable to participate in athletics during physical education.

Rett Syndrome

• Definition
  • normal development to age 6 months 
    • loss of function starting between 1-4 years
  • marked regression characterized of multiple areas of functioning
    • loss of intellectual capacity
    • loss of verbal abilities
    • loss of motor skills 
    • stereotyped hang-wringing
      • Rachel with Rett’s is wringing her wrists
    • ataxia
• Epidemiology
  • X-linked disorder
  • seen only in girls
    • disease in males in incompatible with life
      • males only have 1 copy of X chromosome