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Rett syndrome: a wide clinical and autonomic picture
G Pini1,2, S Bigoni3, L Congiu4
1Tuscany Rett Center, Versilia Hospital, USL Toscana Nord Ovest, Pisa, Italy. giorgio.pini@uslnordovest.toscana.it.
Orphanet Journal of Rare Diseases
|September 30, 2016
Summary
Rett Syndrome (RTT) variants show distinct clinical and autonomic features, suggesting a refined classification. Incorporating autonomic parameters improves early diagnosis of RTT subtypes.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Rett Syndrome (RTT) is a complex neurodevelopmental disorder affecting multiple systems, with a wide clinical spectrum.
- Autonomic nervous system dysfunction is a significant component of RTT.
- Existing classifications of RTT variants may benefit from further refinement based on detailed clinical and physiological data.
Purpose of the Study:
- To investigate the relationship between clinical RTT forms, genetic mutations, cardiorespiratory phenotypes, and disease severity.
- To evaluate the utility of autonomic nervous system assessment for refining RTT classification.
- To identify differences among RTT variants not previously well-described in the literature.
Main Methods:
- Data from 151 subjects with classical or variant RTT were collected, including clinical severity assessments (ISS, PBZ), autonomic nervous system function, and genetic analysis.
- Multivariate statistical analysis was employed to examine correlations between clinical features, genetic mutations, and disease severity.
- Individuals were classified into classical RTT and atypical variants (Z-RTT, Hanefeld, Congenital).
Main Results:
- Z-RTT variant cases exhibited less severe clinical features compared to classical RTT, with a lower incidence of epilepsy and previously unreported autonomic disorders.
- Hanefeld variant was characterized by the consistent presence of early-onset epilepsy and a lack of feeble cardiorespiratory phenotypes.
- Quantitative analysis revealed significant differences in autonomic components across typical and atypical RTT forms.
Conclusions:
- Autonomic parameters provide valuable insights that can enhance the classification of Rett Syndrome subgroups.
- Integrating autonomic assessment into the diagnostic framework can lead to earlier and more accurate identification of RTT subtypes.
- This refined classification approach may aid in personalized treatment strategies and prognostication for individuals with Rett Syndrome.
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