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Atypical forms of Rett syndrome
American Journal of Medical Genetics. Supplement
|January 1, 1986
Summary
Rett syndrome (RS) diagnosis may need broader criteria. Atypical cases in girls suggest that skill deterioration isn't always essential for RS diagnosis, challenging current clinical definitions.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Rett syndrome (RS) is currently diagnosed using clinical criteria, with no established biological markers.
- Patients not meeting all criteria are excluded, potentially overlooking atypical presentations.
Observation:
- Seven female patients with partial RS criteria but lacking essential features were identified.
- Atypical manifestations included absent early development, lack of skill deterioration, and early severe seizures.
Findings:
- These cases suggest that the spectrum of RS clinical manifestations may be wider than currently defined.
- Deterioration of previously acquired skills might not be a mandatory diagnostic criterion for RS.
Implications:
- Broadening RS diagnostic criteria could improve identification of affected individuals.
- Recognizing atypical RS supports the concept of a single disease entity predominantly affecting females.