Autism Spectrum Disorder (ASD) encompasses a clinical spectrum of neurodevelopmental conditions that display significant heterogeneity in etiology, symptomatology, and severity. We previously compared 30 young children with idiopathic ASD and 30 unrelated typically-developing controls, detecting an imbalance in several compounds belonging mainly to the metabolism of purines, tryptophan and other amino acids, as well as compounds derived from the intestinal flora, and reduced levels of vitamins B6, B12 and folic acid. The present study describes significant urinary metabolomic differences within 14 pairs, including one child with idiopathic ASD and his/her typically-developing sibling, tightly matched by sex and age to minimize confounding factors, allowing a more reliable identification of the metabolic fingerprint related to ASD. By using a highly sensitive, accurate and unbiased approach, suitable for ensuring broad metabolite detection coverage on human urine, and by applying multivariate statistical analysis, we largely replicate our previous results, demonstrating a significant perturbation of the purine and tryptophan pathways, and further highlight abnormalities in the “phenylalanine, tyrosine and tryptophan” pathway, essentially involving increased phenylalanine and decreased tyrosine levels, as well as enhanced concentrations of bacterial degradation products, including phenylpyruvic acid, phenylacetic acid and 4-ethylphenyl-sulfate. The outcome of these within-family contrasts consolidates and extends our previous results obtained from unrelated individuals, adding further evidence that these metabolic imbalances may be linked to ASD rather than to environmental differences between cases and controls. It further underscores the excess of some gut microbiota-derived compounds in ASD, which could have diagnostic value in a network model differentiating the metabolome of autistic and unaffected siblings. Finally, it points toward the existence of a “metabolic autism spectrum” distributed as an endophenotype, with unaffected siblings possibly displaying a metabolic profile intermediate between their autistic siblings and unrelated typically-developing controls.

Background: Autism spectrum disorder (ASD) is a complex neurological development with social and communication deficits and sensory abnormalities. Sensory problems have a significant impact on daily life. Multisensory environments (MSEs), such as Snoezelen^® rooms, offer controlled sensory stimulation. This study aims to evaluate the effect of MSE intervention with self-controlled sensory interactions on adaptive developmental skills and sensory responses in preschool ASD children. Methods: This pilot study was single-blind, randomized, controlled, and adhered to the CONSORT guidelines. Twenty participants were recruited and randomized into two groups: the control group (CG) underwent treatment as usual (TAU) with individual rehabilitation sessions of psychomotor therapy. The experimental group (EG) underwent TAU integrated with the use of an MSE. Developmental abilities and severity levels were assessed, pre-post, with the Psychoeducational Profile, Third Edition (PEP-3) and the Second Edition Childhood Autism Rating Scale (CARS-2). Results: A significant difference in taste, smell, and tactile behaviors according to the CARS-2, as well as in gross motor skills according to the PEP-3, was observed in the EG. Conclusions: This pilot study suggests that MSE-integrated intervention may be a valid strategy to improve self-management of the sensory profile in autistic individuals. Further studies are needed to better identify the intervention methodology and effectiveness.

Some studies show that the diagnosis of Autism Spectrum Disorder could be considered reliable and stable in children aged 18 to 24 months. Nevertheless, the diagnostic stability of early ASD diagnosis has not yet been fully demonstrated. This observational study examines the one-year diagnostic stability of autism spectrum disorder diagnosis in a clinical sample of 147 children diagnosed between 18 and 48 months of age. The ADOS-2 scores were used in order to stratify children in three levels of symptom severity: Autism (AD; comparison score 5–7), Autism Spectrum Disorder (ASD; comparison score 3–4), and Sub-Threshold Symptoms; (STS; comparison score 1–2). Results: Overall, the largest part of children and toddlers diagnosed with autism spectrum disorder between 18 and 48 months continued to show autistic symptoms at one-year follow-up evaluation. Nevertheless, a significant percentage of children with higher ADOS severity scores exhibited a reduction of symptom severity and, therefore, moved towards a milder severity class one year later. Conversely, the number of subjects of the STS group meaningfully increased. Therefore, at one-year follow-up a statistically significant (χ²(2) = 181.46, p < 0.0001) percentage of subjects (25.2% of the total) who had received a categorical diagnosis of Autistic Disorder or Autism Spectrum Disorder in baseline no longer met the criteria for a categorical diagnosis. Furthermore, children who no longer met the criteria for autism spectrum disorder continue to show delays in one or more neurodevelopmental areas, possibly related to the emergence of other neurodevelopmental/neuropsychiatric disorders. Overall, the comprehensive results of the study account for a high sensibility but a moderate stability of ASD early diagnosis.