scholarly journals Fatty Acids and Autism Spectrum Disorders: The Rett Syndrome Conundrum

2013 ◽  
Vol 04 (09) ◽  
pp. 71-75 ◽  
Author(s):  
Claudio De Felice ◽  
Cinzia Signorini ◽  
Silvia Leoncini ◽  
Alessandra Pecorelli ◽  
Thierry Durand ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Autism Spectrum Disorders ◽  
Rett Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorders

Dysregulated brain immunity and neurotrophin signaling in Rett syndrome and autism spectrum disorders

2015 ◽  
Vol 279 ◽  
pp. 33-38 ◽  
Author(s):  
Theoharis C. Theoharides ◽  
Marianna Athanassiou ◽  
Smaro Panagiotidou ◽  
Robert Doyle
Keyword(s):  
Autism Spectrum Disorders ◽  
Rett Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Neurotrophin Signaling

Rett Syndrome: On Clinical and Genetic Features, and Experimental Models Based on MeCP2 Dysfunction

2013 ◽  
Author(s):  
Gaston Calfa ◽  
Alan K. Percy ◽  
Lucas Pozzo-Miller
Keyword(s):  
Autism Spectrum Disorders ◽  
Rett Syndrome ◽  
Autism Spectrum ◽  
Experimental Models ◽  
Genetic Features ◽  
Spectrum Disorders ◽  
Genetic Bases

Chapter 5 reviews the features of Rett syndrome (RTT) and its genetic bases, as well as the role of MECP2 in neurodevelopment at the clinical as well as molecular and cellular levels, exploring potential neurobiological mechanisms shared with other autism spectrum disorders.

scholarly journals Lactonase Activity and Lipoprotein-Phospholipase A2as Possible Novel Serum Biomarkers for the Differential Diagnosis of Autism Spectrum Disorders and Rett Syndrome: Results from a Pilot Study

2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Joussef Hayek ◽  
Carlo Cervellati ◽  
Ilaria Crivellari ◽  
Alessandra Pecorelli ◽  
Giuseppe Valacchi
Keyword(s):  
Autism Spectrum Disorders ◽  
Rett Syndrome ◽  
Roc Analysis ◽  
Brain Dysfunction ◽  
Autism Spectrum ◽  
Serum Biomarkers ◽  
Paraoxonase 1 ◽  
Pairwise Comparisons ◽  
Spectrum Disorders ◽  
Operator Curve

Rett syndrome (RTT) and autism spectrum disorders (ASDs) are not merely expression of brain dysfunction but also reflect the perturbation of physiological/metabolic homeostasis. Accordingly, both disorders appear to be associated with increased vulnerability to toxicants produced by redox imbalance, inflammation, and pollution, and impairment of systemic-detoxifying agents could play a role in the exacerbation of these detrimental processes. To check this hypothesis, the activities of two mechanistically related blood-based enzymes, paraoxonase-1 (arylesterase, paraoxonase, and lactonase), and lipoprotein-associated phospholipase A2(Lp-PLA2) were measured in the serum of 79 ASD and 95 RTT patients, and 77 controls. Lactonase and Lp-PLA2showed a similar trend characterized by significantly lower levels of both activities in ASD compared to controls and RTT (p<0.001for all pairwise comparisons). Noteworthy, receiving operator curve (ROC) analysis revealed that lactonase and, mostly, Lp-PLA2were able to discriminate between ASD and controls (lactonase: area under curve, AUC = 0.660; Lp-PLA2, AUC = 0.780), and, considering only females, between ASD and RTT (lactonase, AUC = 0.714; Lp-PLA2, AUC = 0.881). These results suggest that lactonase and, especially, Lp-PLA2activities might represent novel candidate biomarkers for ASD.

scholarly journals The Role of Cholesterol and Fatty Acids in the Etiology and Diagnosis of Autism Spectrum Disorders

2021 ◽  
Vol 22 (7) ◽  
pp. 3550
Author(s):  
Cecilia Maria Esposito ◽  
Massimiliano Buoli ◽  
Valentina Ciappolino ◽  
Carlo Agostoni ◽  
Paolo Brambilla
Keyword(s):  
Fatty Acids ◽  
Autism Spectrum Disorders ◽  
Treatment Options ◽  
Autism Spectrum ◽  
Cholesterol Homeostasis ◽  
Inflammatory Factors ◽  
Inhibitory Synapses ◽  
Spectrum Disorders ◽  
New Treatment

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders whose pathogenesis seems to be related to an imbalance of excitatory and inhibitory synapses, which leads to disrupted connectivity during brain development. Among the various biomarkers that have been evaluated in the last years, metabolic factors represent a bridge between genetic vulnerability and environmental aspects. In particular, cholesterol homeostasis and circulating fatty acids seem to be involved in the pathogenesis of ASDs, both through the contribute in the stabilization of cell membranes and the modulation of inflammatory factors. The purpose of the present review is to summarize the available data about the role of cholesterol and fatty acids, mainly long-chain ones, in the onset of ASDs. A bibliographic research on the main databases was performed and 36 studies were included in our review. Most of the studies document a correlation between ASDs and hypocholesterolemia, while the results concerning circulating fatty acids are less univocal. Even though further studies are necessary to confirm the available data, the metabolic biomarkers open to new treatment options such as the modulation of the lipid pattern through the diet.

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