International Meeting for Autism Research (London, May 15-17, 2008): Physical Examinations of children in the CHARGE Study

Physical Examinations of children in the CHARGE Study

Thursday, May 15, 2008
Champagne Terrace/Bordeaux (Novotel London West)
9:30 AM
K. Angkustsiri , Pediatrics and the M.I.N.D. Institute, University of California at Davis, Sacramento, CA
R. S. Akins , Pediatrics and the M.I.N.D. Institute, University of California at Davis, Sacramento, CA
L. Plumer , Pediatrics and the M.I.N.D. Institute, University of California at Davis, Sacramento, CA
P. Krakowiak , M.I.N.D. Institute, University of California at Davis, Sacramento, CA
I. Hertz-Picciotto , Public Health Sciences and the M.I.N.D. Institute, University of California at Davis, Davis, CA
R. L. Hansen , Department of Pediatrics and the M.I.N.D. Institute, University of California, Davis, Sacramento, CA
Background: Although children with autism spectrum disorders (ASD) share core behavioral symptoms, they vary in associated clinical features that may be important in understanding underlying biological processes reflecting genetic and environmental influences on development.
Objectives: To identify differences in physical development found among children with ASD, developmental delay and typical development that may reflect disruptions in early embryological development.
Methods: Children between the ages of 2-5 years were recruited through a larger population study, the CHARGE study.  The diagnosis of an ASD was confirmed with ADI-R and ADOS scores.  Control groups from the same catchment area included developmentally delayed (DD) children without ASD and typically developing (TD) children from the general population.  Pediatricians completed standardized physical examinations for each child.  Chi square analysis was used to compare frequencies of atypical features between groups.
Results: Physical examinations for 636 children (338 ASD, 192 TD, 106 DD) were performed.  Compared to typically developing children, children with ASD had significantly higher frequencies of atypical midface (8% vs. 1%, p=0.001), cheekbone (6% vs. 1%, p =0.001), maxilla (5% vs. 1%, p=0.005), ear cupping (16% vs. 7%, p=0.006), nasal root (24% vs. 10%, p <0.001), nasal bridge (20% vs. 4%, p<0.001), nasal tip (10% vs. 1%, p<0.001), single palmar crease (7% vs. 3%, p=0.05), hyperextensible joints (26% vs. 14%, p=0.001), and atypical muscle tone (21% vs. 2%, p<0.001).  Rates of atypical findings were similar between children with developmental delay and ASD.
Conclusions:   Children with ASD and DD show more variability than typically developing children in facial (including midface, nose and ears) and musculoskeletal (palmar crease, hyperextensibility and muscle tone) structures but are similar to each other.  Further analysis will be done to determine whether specific clusters of physical features are associated with environmental exposures, medical conditions and developmental trajectories measured in the CHARGE study.