The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol and p-cresylsulfate were associated with stereotypic, compulsive/repetitive behaviors (p < 0.05), although not with overall autism severity. These results confirm the elevation of urinary p-cresol in a sizable set of small autistic children and spur interest into biomarker roles for p-cresol and p-cresylsulfate in autism.

Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1,000 children from 6.7 to 14.6, between 2000 and 2012). Many biological and instrumental markers have been suggested as potential predictive factors for the precocious diagnosis during infancy and/or pediatric age. Many studies reported structural and functional abnormalities in the autonomic system in subjects with ASD. Sleep problems in ASD are a prominent feature, having an impact on the social interaction of the patient. Considering the role of orexins (A and B) in wake-sleep circadian rhythm, we could speculate that ASD subjects may present a dysregulation in orexinergic neurotransmission. Conversely, oxidative stress is implicated in the pathophysiology of many neurological disorders. Nonetheless, little is known about the linkage between oxidative stress and the occurrence or the progress of autism and autonomic functioning; some markers, such as heart rate (HR), heart rate variability (HRV), body temperature, and galvanic skin response (GSR), may be altered in the patient with this so complex disorder. In the present paper, we analyzed an autism case report, focusing on the rule of the sympathetic activity with the aim to suggest that it may be considered an important tool in ASD evaluation. The results of this case confirm our hypothesis even if further studies needed.

Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders presenting at a tender age, defined by qualitative deficits in social interactions and communication, thus having a substantial influence on the subject’s family unit. Quality of life (QoL) refers to a person’s perspective of their life situation, cultural and value background, objectives, expectations, and standards. When focusing on childhood and adolescence, age-related changes should be considered. For this scoping review, the authors used three peer-review literature database sources (PubMed/MEDLINE, Scopus, and ERIC) to delve deeper into components of the QoL of non-autistic siblings of autistic individuals. At the completion of the eligibility phase, 9 studies were included out of the 96 initial records. A total of 4/9 articles (45%) compared the non-autistic siblings of autistic individuals to the siblings of non-autistic people, while 3/9 articles (33%) compared the first group to the non-autistic siblings of patients with other chronic diseases. A total of 5/9 studies adopted specific questionnaires to evaluate QoL. Results from 6/9 articles revealed that the autism condition has varying effects on non-autistic siblings’ QoL. According to the considered research, non-autistic siblings of autistic individuals experienced decreased psychological well-being, less perceived social support, increased aggressiveness and conflict-proneness, and higher levels of anxiety and stress impacting their QoL. The present findings provide important implications for additional and more punctual studies in this sector. Furthermore, as being a non-autistic sibling of an autistic individual is commonly undervalued, this review advocates the need to organize and improve support services for siblings.

Background: Cranio-facial anomalies frequently occur in neurodevelopmental disorders because both face and brain are derived from neuroectoderm. The identification of differences in the facial phenotype of children with Autism Spectrum Disorders (ASD) may reflect alterations in embryologic brain development in children with ASD. Methods: we evaluated 33 caucasian children with ASD using a 2D computerized photogrammetry. Anthropometric euclidean measurements and landmarks located on the soft tissue of the face and head, were based on five cranio-facial indexes. Relationships between anthropometric z-scores and participant characteristics (i.e., age, Global IQ, severity of autistic symptoms measured using the CARS checklist) were assessed. Results: Cephalic index z-score differed significantly from 0 in our ASD group (p = 0.019). Moreover, a significant negative correlation was found between Facial Index z-score and CARS score (p = 0.003); conversely, a positive correlation was found between Interchantal Index z-score and CARS score (p = 0.028). Conclusion: our measurements shows a dolichocephalic head shape which is not correlated with autism severity. Importantly, two craniofacial markers were significantly correlated with autism severity: increased orbital hyperthelorism and decrease of height of the facial midline. These data support previous findings of craniofacial anomalies in autism spectrum disorder suggesting an “ASD facial phenotype” that could be used to improve ASD diagnoses.