Rett syndrome: differential diagnosis

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Rett syndrome: differential diagnosis. Hand stereotypies with autism are simple and intermittent. Fully referenced neurology checklist.

Infantile autism

  • Hand stereotypies with autism are simple and intermittent
  • The stereotypies also involve objects in autism
  • Regression of motor and language skills are not simultaneous in autism
  • There are no hyperventilation, bruxism or seizures in autism

Other differentials

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References

  1. Zanni G, Bertini ES. X-linked disorders with cerebellar dysgenesis. Orphanet J Rare Dis 2011; 6:24.
  2. Weaving L, Ellaway C, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42:1-7.
  3. Marco EJ, Skuse DH. Autism-lessons from the X chromosome. SCAN 2006; 1:183–193.
  4. Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8:61-65.
  5. Goldman S, Temudo T. Hand stereotypies distinguish Rett syndrome from autism disorder. Mov Disord 2012; 27:1060-1062. 
  6. And 3 more. Subscribe to see the full list

Related checklists

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