article = {NNB-2020-1-101}
title = {Rett Syndrome: Search for Prognostic Factors}
journal = {Neurology and Neurobiology}
year = {2020}
issn = {2613-7828}
doi = {http://dx.doi.org/10.31487/j.NNB.2020.01.01}
url = {https://www.sciencerepository.org/rett-syndrome-search-for-prognostic-factors_NNB-2020-1-101 
author = {Hannu Kokki,Raija Vanhala,Raili Riikonen,}
keywords = {Rett syndrome, predictive factors, head growth, SPECT, molecular factors}
abstract ={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.}