Abstract
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.
Highlights
The neurodevelopmental model of autism spectrum disorders (ASD), postulates that the etiological origins of the disease can be traced to events in the prenatal period
Our measurements, assessed by Euclidean distances between anatomical landmarks, show two craniofacial markers which are positively correlated with autism severity: increased orbital hyperthelorism and decrease of height of the facial midline
Our results on Cephalic index show a dolichocephalic head shape which does not correlate with autism severity
Summary
The neurodevelopmental model of autism spectrum disorders (ASD), postulates that the etiological origins of the disease can be traced to events in the prenatal period In support of this neurodevelopmental model, higher rates of dysmorphic features, such as minor physical anomalies (MPAs) have been suggested as risk factors for autism and, correspondingly, as sensitive physical indicators of embryonic development [1,2,3]. 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
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