Cranio-Facial Characteristics in Autism Spectrum Disorder: A Scoping Review.

Autism spectrum disorders (ASD) consist of a complex group of neurodevelopmental disorders characterised by qualitative impairments of social interactions, communication abilities, and a limited, stereotyped, and repetitive selection of interests and activities. In light of the imperative to identify a possible biomarker for ASD, it has been determined that craniofacial anomalies serve as significant risk factors for neurodevelopmental disorders. The aim of this scoping review is to deepen the knowledge of the scientific literature related to cranio-facial characteristics in individuals with ASD, with a particular focus on recent research advancements. The review was performed by employing the search strings (("Autism Spectrum Disorder" OR autism OR ASD OR "Autism Spectrum") AND ("facial morphology" OR "facial phenotype")) on the databases PubMed/MEDLINE, Scopus, and ERIC as of March 9, 2023. The review comprised seven studies whose findings were obtained through quantitative analysis of Euclidean distances between anatomical landmarks. The examination of facial abnormalities represents a possible reliable diagnostic biomarker that could aid in the timely identification of ASD. Phenotypic characteristics that may serve as predictive indicators of the severity of autistic symptoms can be observed in certain individuals with ASD by applying anthropometric and instrumental measurements. The presence of a phenotype characterised by an increased intercanthal distance and a reduced facial midline height appears to be associated with a higher degree of severity in autistic symptoms. In addition, it is worth noting that facial asymmetry and facial masculinity can be considered reliable indicators for predicting a more severe manifestation of symptoms.

Coordination and Referral Platforms for Children Aged 7 and Under with Suspected Neurodevelopmental Outcome: What Data for Research on Care and Developmental Trajectories?

At the core of the child's medical, social, and educational pathway, coordination and referral platforms (CRPs) for neurodevelopmental disorders (NDDs) have been gradually deployed in France since 2018 and support the early detection of NDDs in children. The 112 nationwide CRPs do not benefit from a common electronic health record system. Our aim was to propose an HER model for CRP to enable real-life data reuse, optimize care pathway management and conduct pre-screening for research. CRP data were collected (n=34) into an application enriched by a NLP tool extracting standardized scales for NDDs assessments from medical and paramedical professionals. NLP tool evaluation presented a precision of 86.4% and recall of 90.5%. CRP support was provided to 195 children included between 1 September 2022 and 31 August 2023, aged 4 years, with a sex ratio of 2.8, with delays reported in language (75%) and concerned by global developmental delays (16%). Children's ND phenotype and care pathway description could be automated by a harmonized and structured EHR. While many clinical situations are at an impasse, real-life data-driven evidence is particularly relevant in the context of NDDs, where early intervention plays such a key role in children's development and prognosis. A harmonized and enriched CRP database could benefit both individual and public health levels with pathway monitoring, intervention proposals and research pre-screenings.