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.
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.
Authors: David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter Journal: Am J Hum Genet Date: 2010-05-14 Impact factor: 11.025
Authors: Robert J Kuczmarski; Cynthia L Ogden; Shumei S Guo; Laurence M Grummer-Strawn; Katherine M Flegal; Zuguo Mei; Rong Wei; Lester R Curtin; Alex F Roche; Clifford L Johnson Journal: Vital Health Stat 11 Date: 2002-05
Authors: Sy Wilson; Aleksandra Djukic; Shlomo Shinnar; Charles Dharmani; Isabelle Rapin Journal: Dev Med Child Neurol Date: 2003-08 Impact factor: 5.449
Authors: Anne Goriely; John J McGrath; Christina M Hultman; Andrew O M Wilkie; Dolores Malaspina Journal: Am J Psychiatry Date: 2013-06 Impact factor: 18.112
Authors: Asbjorg Stray-Pedersen; Emmanuelle Jouanguy; Amandine Crequer; Alison A Bertuch; Betty S Brown; Shalini N Jhangiani; Donna M Muzny; Tomasz Gambin; Hanne Sorte; Ghadir Sasa; Denise Metry; Judith Campbell; Marianna M Sockrider; Megan K Dishop; David M Scollard; Richard A Gibbs; Emily M Mace; Jordan S Orange; James R Lupski; Jean-Laurent Casanova; Lenora M Noroski Journal: J Clin Immunol Date: 2014-07-30 Impact factor: 8.317
Authors: Stuart K Shapira; Lin H Tian; Arthur S Aylsworth; Ellen R Elias; Julie E Hoover-Fong; Naomi J L Meeks; Margaret C Souders; Anne C-H Tsai; Elaine H Zackai; Aimee A Alexander; Marshalyn Yeargin-Allsopp; Laura A Schieve Journal: J Autism Dev Disord Date: 2019-05
Authors: Lin H Tian; Lisa D Wiggins; Laura A Schieve; Marshalyn Yeargin-Allsopp; Patricia Dietz; Arthur S Aylsworth; Ellen R Elias; Julie E Hoover-Fong; Naomi J L Meeks; Margaret C Souders; Anne C-H Tsai; Elaine H Zackai; Aimee A Alexander; Nicole F Dowling; Stuart K Shapira Journal: Autism Res Date: 2020-06-22 Impact factor: 4.633
Authors: Irva Hertz-Picciotto; Rebecca J Schmidt; Cheryl K Walker; Deborah H Bennett; McKenzie Oliver; Kristine M Shedd-Wise; Janine M LaSalle; Cecilia Giulivi; Birgit Puschner; Jennifer Thomas; Dorcas L Roa; Isaac N Pessah; Judy Van de Water; Daniel J Tancredi; Sally Ozonoff Journal: Environ Health Perspect Date: 2018-11 Impact factor: 11.035