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1. Introduction
2. Rett syndrome - background
3. The prevalence of the Rett syndrome
4. History of the disorder (1)
5. History of the disorder (2)
6. Clinical presentation and natural history
7. Clinical presentation
8. Stage 1 - early onset stagnation
9. Stage 2 - rapid destructive
10. Stage 3 - plateau or pseudo-stationary
11. Stage 4 - late motor deterioration
12. Diagnosis of RTT (1)
13. Diagnosis of RTT (2)
14. IRSA diagnostic criteria -necessary criteria
15. IRSA diagnostic criteria - supportive criteria
16. IRSA diagnostic criteria -exclusionary criteria
17. DSM-IV-TR diagnostic criteria
18. DSM-IV-TR associated features and disorders
19. IRSA vs. DSM-IV-TR
20. Atypical Rett syndrome
21. Types of atypical RTT
22. Differential diagnosis
23. Etiology of Rett syndrome
24. Rett syndrome: a genetic etiology
25. Random inactivation of one X-chromosome
26. Rett syndrome and sporadic mutation
27. Familial RTT
28. Rett syndrome and MECP2
29. Other disorders linked to mutations of MECP2
30. Other genes associated with RTT
31. Mouse models
32. Mouse model and human display of MECP2
33. Symptoms reversed in mouse model
34. Neuropathology in Rett syndrome
35. Neuroanatomy of Rett syndrome
36. Neurochemical alterations in Rett syndrome
37. Growth patterns and nutrition
38. Cognitive and adaptive functioning
39. Communication
40. Orthopedic aspects and intervention
41. Ataxia and apraxia
42. Hand stereotypies
43. Spasticity
44. Ambulation
45. Scoliosis
46. Educational implications
47. Conclusion
48. Videos depicting children with Rett syndrome
49. References (1)
50. References (2)
51. References (3)
52. References (4)
53. References (5)
54. References (6)

Topics Covered

• Prevalence of Rett syndrome
• History of the disorder
• Clinical presentation
• Different stages of the syndrome
• Diagnosis
• IRSA diagnostic criteria
• Necessary, supportive and exclusionary criteria
• Diagnostic criteria associated features and disorders
• IRSA vs. DSM-IV-TR
• Atypical Rett syndrome
• Differential diagnosis
• Etiology of Rett syndrome
• Random inactivation of one X-chromosome in each cell
• Rett syndrome and sporadic mutation
• Familial RTT
• Rett syndrome and MECP2
• Other genes associated with RTT
• Mouse models
• Neuropathology
• Neuroanatomy
• Neurochemical alterations in Rett syndrome
• Growth patterns and nutrition
• Cognitive and adaptive functioning
• Communication
• Orthopedic aspects and intervention
• Hand stereotypes
• Educational implications

Links

Series:

• Autism and Autism Spectrum Disorders

Categories:

• Clinical Practice
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Van Acker, R. (2020, November 9). Rett syndrome: a pediatric neurodevelopmental disorder [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/TKDN2022.
Export Citation (RIS)

Publication History

• Published on September 29, 2010
• Reviewed on November 9, 2020

Financial Disclosures

• Prof. Richard Van Acker has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.