Updated: 1/4/2017

Other Pervasive Developmental Disorders

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Topic
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
 

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Questions (2)

(M1.PY.17.4699) A 4-year-old girl is seen by her pediatrician for developmental delay. One year prior, the patient was able to ride a tricycle, stack 3 blocks, and speak in short sentences. Now, she is unable to feed herself and has recently started to point to objects she wants rather than asking. Physical exam reveals a well nourished child sitting in a stroller wringing her hands. Vital signs are normal. The patient's mother reports that her 7-year-old son is doing well, and that they have no family history of mental retardation or other cognitive disorders. What is the most likely diagnosis?

QID: 108377
1

Angelman syndrome

7%

(7/104)

2

Rett syndrome

76%

(79/104)

3

Beckwith–Wiedemann syndrome

6%

(6/104)

4

Prader-Willi syndrome

5%

(5/104)

5

McCune-Albright syndrome

4%

(4/104)

M 2 D

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Evidence (3)
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