The Developmental Autism Early Screening (DAES): A Novel Test for Screening Autism Spectrum Disorder.

This study was undertaken to set a novel developmental screening test for autism spectrum disorder (ASD) using the Griffiths Scales of Child Development (Griffith III) (Green et al., 2016; Stroud et al., 2016), in order to intercept the early atypical developmental patterns indicating ASD risk in the first 3 years of age. An observational and interactive ASD screener, the Developmental Autism Early Screening (DAES), was developed by detecting Griffiths III items differentiating toddlers with ASD risk from those with global developmental delay (DD) or neurotypical development. The DAES was validated with ASD-specific diagnostic instruments (ADOS-2) and the cut-off score based on sensitivity, specificity and positive predictive value that best differentiates between ASD and non-ASD children was identified. We enrolled a total sample of 297 subjects, including children at risk for ASD or DD and neurotypical children. At a cut-off score of 12.5, the DAES had a sensitivity of 93%, specificity of 98.4%, positive predictive value of 96.3% and negative predictive value of 96.9% for identifying children at risk for ASD from non-ASD participants (DD/neurotypical children). The DAES total score correlated significantly with the ADOS-2 calibrated severity scores (CSS) (R = 0.53, p < 0.001). Three ASD risk ranges were identified according to DAES total and ADOS-2 CSS: Little-to-no risk (CSS: 1-3, DAES: 1-7); Mild-to-moderate risk (CSS: 4-5, DAES: 8-14); Moderate-to-severe risk (CSS: 6-10, DAES ≥ 15). The DAES provides a direct approach based on developmental profiles to stratify risk for ASD in early childhood ensuring at risk children the most appropriate diagnostic procedures and targeted intervention.

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample.

Biological bases of autism spectrum disorder (ASD) include both genetic and epigenetic causes. Patients with ASD show anomalies in the profile of certain plasma amino acids, including neuroactive amino acids. Monitoring plasma amino acids may be relevant for patient care and interventions. We evaluated the plasma amino acid profile in samples extracted from dry blood spots by electrospray ionization-tandem mass spectrometry. Fourteen amino acids and eleven amino acid ratios were examined in patients with ASD and intellectual disability (ID), and neurotypical control subjects (TD). The amino acid profile in the ASD group showed reduced levels of ornithine (p = 0.008), phenylalanine (p = 0.042) and tyrosine (p = 0.013). The statistically significant amino acid ratios were Leu+Val/Phe+Tyr (p = 0.002), Tyr/Leu (p = 0.007) and Val/Phe (p = 0.028), such differences remaining significant only in the comparison between ASD and TD. Finally, a positive correlation emerged between the score of the restricted and repetitive behavior on ADOS-2 and the citrulline levels in the ASD group (p = 0.0047). To conclude, patients with ASD may show a distinguishable metabolic profile useful for studying their metabolic pathways in order to develop screening tests and targeted therapies.