Rett syndrome: differential diagnosis

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

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

• Rett syndrome: pathology
• Rett syndrome: clinical features
• Rett syndrome: management