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A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development / S. K. SHAPIRA in Journal of Autism and Developmental Disorders, 49-5 (May 2019)
[article]
Titre : A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development Type de document : Texte imprimé et/ou numérique Auteurs : S. K. SHAPIRA, Auteur ; L. H. TIAN, Auteur ; Arthur S. AYLSWORTH, Auteur ; E. R. ELIAS, Auteur ; J. E. HOOVER-FONG, Auteur ; N. J. L. MEEKS, Auteur ; M. C. SOUDERS, Auteur ; A. C. TSAI, Auteur ; E. H. ZACKAI, Auteur ; A. A. ALEXANDER, Auteur ; M. YEARGIN-ALLSOPP, Auteur ; Laura A. SCHIEVE, Auteur Article en page(s) : p.2184-2202 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Birth defects Dysmorphic features Dysmorphology Genetic disorders Morphologic anomalies Phenotypic classification Race/ethnicity Index. décimale : PER Périodiques Résumé : The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-03899-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393
in Journal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.2184-2202[article] A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development [Texte imprimé et/ou numérique] / S. K. SHAPIRA, Auteur ; L. H. TIAN, Auteur ; Arthur S. AYLSWORTH, Auteur ; E. R. ELIAS, Auteur ; J. E. HOOVER-FONG, Auteur ; N. J. L. MEEKS, Auteur ; M. C. SOUDERS, Auteur ; A. C. TSAI, Auteur ; E. H. ZACKAI, Auteur ; A. A. ALEXANDER, Auteur ; M. YEARGIN-ALLSOPP, Auteur ; Laura A. SCHIEVE, Auteur . - p.2184-2202.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.2184-2202
Mots-clés : Autism spectrum disorder Birth defects Dysmorphic features Dysmorphology Genetic disorders Morphologic anomalies Phenotypic classification Race/ethnicity Index. décimale : PER Périodiques Résumé : The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-03899-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393 Use of Dysmorphology for Subgroup Classification on Autism Spectrum Disorder in Chinese Children / Virginia C.N. WONG in Journal of Autism and Developmental Disorders, 44-1 (January 2014)
[article]
Titre : Use of Dysmorphology for Subgroup Classification on Autism Spectrum Disorder in Chinese Children Type de document : Texte imprimé et/ou numérique Auteurs : Virginia C.N. WONG, Auteur ; Cecilia K. Y. FUNG, Auteur ; Polly T. Y. WONG, Auteur Article en page(s) : p.9-18 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder Dysmorphology Subgroup classification Index. décimale : PER Périodiques Résumé : Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. However, gender, EEG abnormality and family history and recurrence of ASD were not found to be significantly different between group statuses. It is suggested that results collected from the Chinese population generally resembles that found in the Caucasians with ethnical differences still present. Current study supports the result shown in Miles’ study (Miles et al. in Am J Med Genet 135A:171–180, 2005), in which heterogeneity subtypes of autism of different genetic origins which could be distinguished by presence of dysmorphic features on the patients. En ligne : http://dx.doi.org/10.1007/s10803-013-1846-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=220
in Journal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.9-18[article] Use of Dysmorphology for Subgroup Classification on Autism Spectrum Disorder in Chinese Children [Texte imprimé et/ou numérique] / Virginia C.N. WONG, Auteur ; Cecilia K. Y. FUNG, Auteur ; Polly T. Y. WONG, Auteur . - p.9-18.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.9-18
Mots-clés : Autism Spectrum Disorder Dysmorphology Subgroup classification Index. décimale : PER Périodiques Résumé : Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. However, gender, EEG abnormality and family history and recurrence of ASD were not found to be significantly different between group statuses. It is suggested that results collected from the Chinese population generally resembles that found in the Caucasians with ethnical differences still present. Current study supports the result shown in Miles’ study (Miles et al. in Am J Med Genet 135A:171–180, 2005), in which heterogeneity subtypes of autism of different genetic origins which could be distinguished by presence of dysmorphic features on the patients. En ligne : http://dx.doi.org/10.1007/s10803-013-1846-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=220 Developmental functioning and medical Co-morbidity profile of children with complex and essential autism / Jaimie FLOR in Autism Research, 10-8 (August 2017)
[article]
Titre : Developmental functioning and medical Co-morbidity profile of children with complex and essential autism Type de document : Texte imprimé et/ou numérique Auteurs : Jaimie FLOR, Auteur ; Jayne BELLANDO, Auteur ; Maya LOPEZ, Auteur ; Amy SHUI, Auteur Article en page(s) : p.1344-1352 Langues : Anglais (eng) Mots-clés : autism developmental children microcephaly dysmorphology essential autism complex autism Index. décimale : PER Périodiques Résumé : Children with Autism Spectrum Disorders (ASD) may be characterized as “complex” (those with microcephaly and/or dysmorphology) or “essential” (those with neither of these two). Previous studies found subjects in the complex group exhibited lower IQ scores, poorer response to behavioral intervention, more seizures and more abnormal EEGs and brain MRIs compared to the essential group. The objective of this study was to determine if there are differences in complex versus essential subjects based on several developmental/psychological measures as well as certain medical comorbidities. This study utilized data from 1,347 individuals (2–17 years old) well-characterized subjects enrolled in Autism Treatment Network (ATN) Registry. Head circumference measurement and the Autism Dysmorphology Measure (ADM) were used by trained physicians to classify subjects as complex or essential. Significantly lower scores were seen for complex subjects in cognitive level, adaptive behavior and quality of life. Complex subjects showed significantly increased physician-documented GI symptoms and were on a higher number of medications. No significant differences in autism severity scores, behavioral ratings and parent-reported sleep problems were found. After adjusting for multiple comparisons made, adaptive scores remained significantly lower for the complex group, and the complex group used a significantly higher number of medications and had increased GI symptoms. Complex and essential autism subtypes may have distinct developmental and medical correlates and thus underlines the importance of looking for microcephaly and dysmorphology, when evaluating a child with autism. Determining this distinction in autism may have implications in prognosis, identifying medical co-morbidities, directing diagnostic evaluations and treatment interventions. En ligne : http://dx.doi.org/10.1002/aur.1779 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310
in Autism Research > 10-8 (August 2017) . - p.1344-1352[article] Developmental functioning and medical Co-morbidity profile of children with complex and essential autism [Texte imprimé et/ou numérique] / Jaimie FLOR, Auteur ; Jayne BELLANDO, Auteur ; Maya LOPEZ, Auteur ; Amy SHUI, Auteur . - p.1344-1352.
Langues : Anglais (eng)
in Autism Research > 10-8 (August 2017) . - p.1344-1352
Mots-clés : autism developmental children microcephaly dysmorphology essential autism complex autism Index. décimale : PER Périodiques Résumé : Children with Autism Spectrum Disorders (ASD) may be characterized as “complex” (those with microcephaly and/or dysmorphology) or “essential” (those with neither of these two). Previous studies found subjects in the complex group exhibited lower IQ scores, poorer response to behavioral intervention, more seizures and more abnormal EEGs and brain MRIs compared to the essential group. The objective of this study was to determine if there are differences in complex versus essential subjects based on several developmental/psychological measures as well as certain medical comorbidities. This study utilized data from 1,347 individuals (2–17 years old) well-characterized subjects enrolled in Autism Treatment Network (ATN) Registry. Head circumference measurement and the Autism Dysmorphology Measure (ADM) were used by trained physicians to classify subjects as complex or essential. Significantly lower scores were seen for complex subjects in cognitive level, adaptive behavior and quality of life. Complex subjects showed significantly increased physician-documented GI symptoms and were on a higher number of medications. No significant differences in autism severity scores, behavioral ratings and parent-reported sleep problems were found. After adjusting for multiple comparisons made, adaptive scores remained significantly lower for the complex group, and the complex group used a significantly higher number of medications and had increased GI symptoms. Complex and essential autism subtypes may have distinct developmental and medical correlates and thus underlines the importance of looking for microcephaly and dysmorphology, when evaluating a child with autism. Determining this distinction in autism may have implications in prognosis, identifying medical co-morbidities, directing diagnostic evaluations and treatment interventions. En ligne : http://dx.doi.org/10.1002/aur.1779 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=310 Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? / Susan G. MCGREW in Journal of Autism and Developmental Disorders, 42-8 (August 2012)
[article]
Titre : Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? Type de document : Texte imprimé et/ou numérique Auteurs : Susan G. MCGREW, Auteur ; Brittany R. PETERS, Auteur ; Julie CRITTENDON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.1582-1591 Langues : Anglais (eng) Mots-clés : Genetic testing guidelines Chromosomal microarray Karyotype Dysmorphology Index. décimale : PER Périodiques Résumé : Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1398-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178
in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591[article] Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? [Texte imprimé et/ou numérique] / Susan G. MCGREW, Auteur ; Brittany R. PETERS, Auteur ; Julie CRITTENDON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.1582-1591.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591
Mots-clés : Genetic testing guidelines Chromosomal microarray Karyotype Dysmorphology Index. décimale : PER Périodiques Résumé : Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1398-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 Minor physical anomalies in children with autism spectrum disorders / Kathleen ANGKUSTSIRI in Autism, 15-6 (November 2011)
[article]
Titre : Minor physical anomalies in children with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Kathleen ANGKUSTSIRI, Auteur ; Paula KRAKOWIAK, Auteur ; Billur MOGHADDAM, Auteur ; Terrance WARDINSKY, Auteur ; Jerald GARDNER, Auteur ; Nareg KALAMKARIAN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; David J. HANSEN, Auteur Année de publication : 2011 Article en page(s) : p.746-760 Langues : Anglais (eng) Mots-clés : autism dysmorphology minor physical anomalies Index. décimale : PER Périodiques Résumé : Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic (p = .005). Frequencies were similar between ASD versus DD (p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders. En ligne : http://dx.doi.org/10.1177/1362361310397620 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149
in Autism > 15-6 (November 2011) . - p.746-760[article] Minor physical anomalies in children with autism spectrum disorders [Texte imprimé et/ou numérique] / Kathleen ANGKUSTSIRI, Auteur ; Paula KRAKOWIAK, Auteur ; Billur MOGHADDAM, Auteur ; Terrance WARDINSKY, Auteur ; Jerald GARDNER, Auteur ; Nareg KALAMKARIAN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; David J. HANSEN, Auteur . - 2011 . - p.746-760.
Langues : Anglais (eng)
in Autism > 15-6 (November 2011) . - p.746-760
Mots-clés : autism dysmorphology minor physical anomalies Index. décimale : PER Périodiques Résumé : Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic (p = .005). Frequencies were similar between ASD versus DD (p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders. En ligne : http://dx.doi.org/10.1177/1362361310397620 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149 Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study / Heval M. OZGEN in Journal of Autism and Developmental Disorders, 41-1 (January 2011)
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