Association between Autism Spectrum Disorder, Trace Elements, and Intracranial Fluid Spaces.

(1) Autism spectrum disorder (ASD) belongs to the group of complex developmental disorders. Novel studies have suggested that genetic and environmental factors equally affect the risk of ASD. Identification of environmental factors involved in the development of ASD is therefore crucial for a better understanding of its etiology. Whether there is a causal link between trace elements, brain magnetic resonance imaging (MRI), and ASD remains a matter of debate and requires further studies. (2) In the prospective part of the study, we included 194 children, including an age-matched control group; in the retrospective study, 28 children with available MRI imaging were included. All children had urine analysis of trace elements performed. In those with available brain MRI, linear indexes for the ventricular volumes were measured and calculated. (3) We found the highest vanadium, rubidium, thallium, and silver levels in children with ASD. These elements also correlated with the estimated ventricular volume based on MRI indexes in children with ASD in the subanalysis. However, the severity of the deficits did not correlate with brain MRI indexes of our elements, except negatively with magnesium. (4) Trace elements have an impact on children with ASD, but further multi-centric studies are needed to explain the pathophysiological mechanisms.

Correlation between Muscle Tone and Motor Delay and Biochemical Levels of Carbohydrates in Urine.

Aims: To establish a possible correlation between children’s clinical status and carbohydrates in their urine samples as they could be a useful additional tool for objective assessment of muscle tone and motor development. Place and Duration of Study: The Department of Child, Adolescent and Developmental Neurology, University Children’s Hospital in Ljubljana between December 1, 2011 and August 31, 2013. Methodology: The retrospective part of the study comprised children aged 0-5 years (average age, 29.3 months) with motor developmental delay and/or abnormal muscle tone. A group of healthy individuals comprised the prospective part. Besides clinical assessment, electrochemical detection of ten sugars in the urine samples was performed using ion chromatography combined with electrochemical detection and tandem mass spectrometry. Results: 72.0% of 82 hospitalised children had a disorder of muscle tone and/or DQ < 70, 28.0% had a pathological urine sample and an abnormal clinical examination, while 44.0% of children had a clinical abnormality and a normal urine sample. In the control group, 22.7% had pathological urine samples. There was a statistically significant difference between patients and control subjects in the value of fucose (p = 0.020), sucrose (p = 0.051) and ribose (p = 0.000). Conclusion: A significant correlation was found between abnormalities in clinical status and pathological urine samples (p = 0.002). Absolute and relative values of specific carbohydrates and the number of elevated sugars showed a strong correlation with disease severity.