Rett Syndrome: Search for Prognostic Factors

Author Info

Hannu Kokki Raija Vanhala Raili Riikonen

Corresponding Author

Raili Riikonen
Professor in Child Neurology, Children`s Hospital, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland

A B S T R A C T

Rett (RTT) syndrome is primarily a disorder of synaptic plasticity. The maturation of neurons is blocked resulting arrest of brain growth. Clinical signs of excitatory activity occur in early age but reduced in later childhood. Correcting this imbalance may be reflected in molecular changes. Our aim was to find prognostic factors using combination of clinical examination, neuroradiological and biochemical analysis of cerebrospinal fluid (CSF). The evaluation of 15 children with RTT included careful clinical examination, measurement of serum- and CSF-insulin-like growth factor-1 and -nerve growth factor, CSF-glutamate, - adrenocorticotropin (ACTH) and -acetyltransferase, genetic analysis, and single photon computed tomography (SPECT) studies. Predictive data for poor outcome of six children were early onset of clinical signs, early deceleration of head growth, and hypometabolism in SPECT images corresponding low CSFNGF found in patients with RTT. These signs correlated with severity of later gross motor signs (no gait). Favorable outcomes were seen in nine children with late onset of the clinical symptoms and late deceleration of head growth. Two of these patients had the highest CSF-acetylcholinesterase and mutation R294X, and five had R306C mutation. ACTH/glutamate-ratio was significantly higher in the early onset-group compared to the late onset-group. This might mean an attempt to restore the balance between excitatory and inhibitory transmission. In conclusion, the clinical signs and hypo-perfusion in SPECT were the most predictive outcome measures. Our findings might be valuable because they impact the understanding of mechanisms of RTT and the potential to discovery of biological markers for proper diagnosis and treatment.

Article Info

Article Type

Research Article

Publication history

Received: Mon 30, Dec 2019
Accepted: Thu 16, Jan 2020
Published: Fri 24, Jan 2020

Copyright

© 2023 Raili Riikonen. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.NNB.2020.01.01