Clinical Features and Disease Progression in Older Individuals With Rett Syndrome

How to cite: Neul, J. L.; Benke, T. A.; Marsh, E. D.; Suter, B.; Fu, C.; Ryther, R. C.; Skinner, S. A.; Lieberman, D. N.; Feyma, T.; Beisang, A.; Heydemann, P.; Peters, S. U.; Ananth, A.; Percy, A. K. Clinical Features and Disease Progression in Older Individuals With Rett Syndrome. Preprints 2024, 2024071181. https://doi.org/10.20944/preprints202407.1181.v1 Neul, J. L.; Benke, T. A.; Marsh, E. D.; Suter, B.; Fu, C.; Ryther, R. C.; Skinner, S. A.; Lieberman, D. N.; Feyma, T.; Beisang, A.; Heydemann, P.; Peters, S. U.; Ananth, A.; Percy, A. K. Clinical Features and Disease Progression in Older Individuals With Rett Syndrome. Preprints 2024, 2024071181. https://doi.org/10.20944/preprints202407.1181.v1

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MDPI and ACS Style

Neul, J. L.; Benke, T. A.; Marsh, E. D.; Suter, B.; Fu, C.; Ryther, R. C.; Skinner, S. A.; Lieberman, D. N.; Feyma, T.; Beisang, A.; Heydemann, P.; Peters, S. U.; Ananth, A.; Percy, A. K. Clinical Features and Disease Progression in Older Individuals With Rett Syndrome. Preprints 2024, 2024071181. https://doi.org/10.20944/preprints202407.1181.v1

APA Style

Neul, J. L., Benke, T. A., Marsh, E. D., Suter, B., Fu, C., Ryther, R. C., Skinner, S. A., Lieberman, D. N., Feyma, T., Beisang, A., Heydemann, P., Peters, S. U., Ananth, A., & Percy, A. K. (2024). Clinical Features and Disease Progression in Older Individuals With Rett Syndrome. Preprints. https://doi.org/10.20944/preprints202407.1181.v1

Chicago/Turabian Style

Neul, J. L., Amitha Ananth and Alan K. Percy. 2024 "Clinical Features and Disease Progression in Older Individuals With Rett Syndrome" Preprints. https://doi.org/10.20944/preprints202407.1181.v1

Abstract

Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in MECP2 associated with milder severity, and that clinical features would not be static in older individuals. To address these hypotheses, we compared the distribution of MECP2 variants and clinical severity between younger individuals with Classic RTT (under 30 years old) and older individuals (over 30 years old). Contrary to expectation, enrichment of a severe MECP2 variant (R106W) was observed in the older cohort. Overall severity was not different between the cohorts, but specific clinical features varied between the cohorts. Overall severity from first to last visit increased in the younger cohort but not in the older cohort. While some specific clinical features in the older cohort were stable from the first to the last visit, others showed improvement or worsening. These data do not support the hypothesis that mild MECP2 variants or less overall severity leads to increased longevity in RTT but demonstrate that clinical features change with increasing age in adults with RTT. Additional work is needed to understand disease progression in adults with RTT.

Keywords

Rett syndrome; MECP2; old age; clinical severity; disease progression

Subject

Medicine and Pharmacology, Neuroscience and Neurology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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