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Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
Published on: April 22, 2015
Cranio-Facial Characteristics in Children with Autism Spectrum Disorders (ASD)
Gabriele Tripi1,2, Sylvie Roux3, Domenica Matranga4
1Department Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza "G. D'Alessandro"-PROMISE-University of Palermo, 90127 Palermo, Italy. gabriele.tripi@unipa.it.
Insights
Children with Autism Spectrum Disorder (ASD) exhibit distinct facial features, including dolichocephaly. Specific craniofacial markers correlate with ASD symptom severity, potentially aiding diagnosis.
Area of Science:
- Neurodevelopmental Disorders
- Genetics and Developmental Biology
- Pediatric Medicine
Background:
- Craniofacial anomalies are common in neurodevelopmental disorders due to shared neuroectodermal origins of the brain and face.
- Facial phenotype variations in children with Autism Spectrum Disorder (ASD) may indicate underlying embryonic brain development alterations.
- Investigating craniofacial differences can provide insights into the neurobiological underpinnings of ASD.
Purpose of the Study:
- To investigate specific craniofacial anthropometric differences in children diagnosed with Autism Spectrum Disorder (ASD).
- To assess the correlation between craniofacial measurements and clinical characteristics of ASD, including symptom severity and global IQ.
- To identify potential craniofacial markers indicative of an 'ASD facial phenotype'.
Main Methods:
- Utilized 2D computerized photogrammetry to analyze facial and head landmarks in 33 Caucasian children with ASD.
- Calculated five craniofacial indexes based on anthropometric Euclidean measurements.
- Assessed relationships between craniofacial z-scores and participant characteristics (age, Global IQ, Childhood Autism Rating Scale - CARS scores).
Main Results:
- The ASD group showed a significant deviation in Cephalic Index z-score from zero (p = 0.019), indicating a dolichocephalic head shape.
- A significant negative correlation was observed between Facial Index z-score and CARS score (p = 0.003).
- A significant positive correlation was found between Interchantal Index z-score and CARS score (p = 0.028), with increased orbital hypertelorism and decreased facial midline height correlating with ASD severity.
Conclusions:
- The study identified a dolichocephalic head shape in the ASD group, not correlated with autism severity.
- Two craniofacial markers, increased orbital hypertelorism and decreased facial midline height, were significantly correlated with autism severity.
- These findings support the concept of an 'ASD facial phenotype' that may assist in improving the diagnostic process for Autism Spectrum Disorder.
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.
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