1. Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
- Author
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Ann Nordgren, Britt-Marie Anderlid, Ralf Kuja-Halkola, Karl Lundin, Sven Bölte, Lynnea Myers, and Kristiina Tammimies
- Subjects
Adult ,Male ,Adolescent ,Autism Spectrum Disorder ,Twins ,Bioinformatics ,Clinical expertise ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Genetics ,Medicine ,Humans ,Medical diagnosis ,Facial region ,Child ,Genetics (clinical) ,030304 developmental biology ,0303 health sciences ,business.industry ,medicine.disease ,Thick upper lip vermilion ,Autism spectrum disorder ,Attention Deficit Disorder with Hyperactivity ,Neurodevelopmental Disorders ,Cohort ,Autism ,Female ,Abnormality ,business ,030217 neurology & neurosurgery - Abstract
Physical examinations are recommended as part of a comprehensive evaluation for individuals with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder. These examinations should include assessment for morphological variants. Previous studies have shown an increase in morphological variants in individuals with NDDs, particularly ASD, and that these variants may be present in greater amounts in individuals with genetic alterations. Unfortunately, assessment for morphological variants can be subjective and time-consuming, and require a high degree of clinical expertise. Therefore, objective, automated methods of morphological assessment are desirable. This study compared the use of Face2Gene, an automated tool to explore facial morphological variants, to clinical consensus assessment, using a cohort of N = 290 twins enriched for NDDs (n = 135 with NDD diagnoses). Agreement between automated and clinical assessments were satisfactory to complete (78.3-100%). In our twin sample, individuals with NDDs did not have greater numbers of facial morphological variants when compared to those with typical development, nor when controlling for shared genetic and environmental factors within twin pairs. Common facial morphological variants in those with and without NDDs were similar and included thick upper lip vermilion, abnormality of the nasal tip, long face, and upslanted palpebral fissure. We conclude that although facial morphological variants can be assessed reliably in NDDs with automated tools like Face2Gene, clinical utility is limited when just exploring the facial region. Therefore, currently, automated assessments may best complement, rather than replace, in-person clinical assessments.
- Published
- 2019