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Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach / Maryam BOUTRUS in Autism Research, 10-12 (December 2017)
[article]
Titre : Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach Type de document : Texte imprimé et/ou numérique Auteurs : Maryam BOUTRUS, Auteur ; Murray T. MAYBERY, Auteur ; Gail A. ALVARES, Auteur ; Diana Weiting TAN, Auteur ; Kandice J. VARCIN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : p.1910-1918 Langues : Anglais (eng) Mots-clés : neurodevelopment facial phenotype morphology subgroups autism Index. décimale : PER Périodiques Résumé : Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development. Although there is little consensus across the reviewed studies for the majority of facial characteristics described, preliminary evidence suggests increased facial asymmetry may be more common in ASC. There is also evidence to suggest that there are morphologically distinct subgroups within ASC that correspond with different cognitive and behavioral symptomatology. However, in light of the various inconsistencies in the reported literature, and based on an accumulating understanding of etiological pathways proposed to be associated with ASC, we propose an alternative paradigm for investigating facial phenotypes in ASC. A series of studies are outlined to demonstrate the promise of a research program that has taken a hypothesis-driven approach to examine facial phenotypes associated with increased exposure to prenatal testosterone and to ASC. Autism Res 2017, 10: 1910–1918. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary This commentary reviewed studies that found differences in the facial features of individuals with autism spectrum conditions (ASC) compared to typically developing individuals. While there is little agreement between studies, there is some support for asymmetrical facial features associated with ASC, and preliminary evidence that particular facial features relate to specific patterns of cognitive and behavioral symptoms. However, in light of inconsistencies between studies and based on accumulating understanding of etiological pathways, we propose an alternative approach to investigating facial differences in ASC. En ligne : http://dx.doi.org/10.1002/aur.1824 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322
in Autism Research > 10-12 (December 2017) . - p.1910-1918[article] Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach [Texte imprimé et/ou numérique] / Maryam BOUTRUS, Auteur ; Murray T. MAYBERY, Auteur ; Gail A. ALVARES, Auteur ; Diana Weiting TAN, Auteur ; Kandice J. VARCIN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - p.1910-1918.
Langues : Anglais (eng)
in Autism Research > 10-12 (December 2017) . - p.1910-1918
Mots-clés : neurodevelopment facial phenotype morphology subgroups autism Index. décimale : PER Périodiques Résumé : Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development. Although there is little consensus across the reviewed studies for the majority of facial characteristics described, preliminary evidence suggests increased facial asymmetry may be more common in ASC. There is also evidence to suggest that there are morphologically distinct subgroups within ASC that correspond with different cognitive and behavioral symptomatology. However, in light of the various inconsistencies in the reported literature, and based on an accumulating understanding of etiological pathways proposed to be associated with ASC, we propose an alternative paradigm for investigating facial phenotypes in ASC. A series of studies are outlined to demonstrate the promise of a research program that has taken a hypothesis-driven approach to examine facial phenotypes associated with increased exposure to prenatal testosterone and to ASC. Autism Res 2017, 10: 1910–1918. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary This commentary reviewed studies that found differences in the facial features of individuals with autism spectrum conditions (ASC) compared to typically developing individuals. While there is little agreement between studies, there is some support for asymmetrical facial features associated with ASC, and preliminary evidence that particular facial features relate to specific patterns of cognitive and behavioral symptoms. However, in light of inconsistencies between studies and based on accumulating understanding of etiological pathways, we propose an alternative approach to investigating facial differences in ASC. En ligne : http://dx.doi.org/10.1002/aur.1824 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322 Facial Structure Analysis Separates Autism Spectrum Disorders into Meaningful Clinical Subgroups / Tayo OBAFEMI-AJAYI in Journal of Autism and Developmental Disorders, 45-5 (May 2015)
[article]
Titre : Facial Structure Analysis Separates Autism Spectrum Disorders into Meaningful Clinical Subgroups Type de document : Texte imprimé et/ou numérique Auteurs : Tayo OBAFEMI-AJAYI, Auteur ; Judith H. MILES, Auteur ; T. Nicole TAKAHASHI, Auteur ; Wenchuan QI, Auteur ; Kristina ALDRIDGE, Auteur ; Minqi ZHANG, Auteur ; Shi-Qing XIN, Auteur ; Ying HE, Auteur ; Ye DUAN, Auteur Article en page(s) : p.1302-1317 Langues : Anglais (eng) Mots-clés : Autism Cluster analysis Language regression Facial phenotype Biomarker Outcome indicators Index. décimale : PER Périodiques Résumé : Varied cluster analysis were applied to facial surface measurements from 62 prepubertal boys with essential autism to determine whether facial morphology constitutes viable biomarker for delineation of discrete Autism Spectrum Disorders (ASD) subgroups. Earlier study indicated utility of facial morphology for autism subgrouping (Aldridge et al. in Mol Autism 2(1):15, 2011). Geodesic distances between standardized facial landmarks were measured from three-dimensional stereo-photogrammetric images. Subjects were evaluated for autism-related symptoms, neurologic, cognitive, familial, and phenotypic variants. The most compact cluster is clinically characterized by severe ASD, significant cognitive impairment and language regression. This verifies utility of facially-based ASD subtypes and validates Aldridge et al.’s severe ASD subgroup, notwithstanding different techniques. It suggests that language regression may define a unique ASD subgroup with potential etiologic differences. En ligne : http://dx.doi.org/10.1007/s10803-014-2290-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259
in Journal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1302-1317[article] Facial Structure Analysis Separates Autism Spectrum Disorders into Meaningful Clinical Subgroups [Texte imprimé et/ou numérique] / Tayo OBAFEMI-AJAYI, Auteur ; Judith H. MILES, Auteur ; T. Nicole TAKAHASHI, Auteur ; Wenchuan QI, Auteur ; Kristina ALDRIDGE, Auteur ; Minqi ZHANG, Auteur ; Shi-Qing XIN, Auteur ; Ying HE, Auteur ; Ye DUAN, Auteur . - p.1302-1317.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1302-1317
Mots-clés : Autism Cluster analysis Language regression Facial phenotype Biomarker Outcome indicators Index. décimale : PER Périodiques Résumé : Varied cluster analysis were applied to facial surface measurements from 62 prepubertal boys with essential autism to determine whether facial morphology constitutes viable biomarker for delineation of discrete Autism Spectrum Disorders (ASD) subgroups. Earlier study indicated utility of facial morphology for autism subgrouping (Aldridge et al. in Mol Autism 2(1):15, 2011). Geodesic distances between standardized facial landmarks were measured from three-dimensional stereo-photogrammetric images. Subjects were evaluated for autism-related symptoms, neurologic, cognitive, familial, and phenotypic variants. The most compact cluster is clinically characterized by severe ASD, significant cognitive impairment and language regression. This verifies utility of facially-based ASD subtypes and validates Aldridge et al.’s severe ASD subgroup, notwithstanding different techniques. It suggests that language regression may define a unique ASD subgroup with potential etiologic differences. En ligne : http://dx.doi.org/10.1007/s10803-014-2290-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259