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Clinical research: Photographs reveal unusual physical features

by  /  21 June 2011

Clear characteristics: Children with a duplication of the chromosomal region 16p11.2 have distinct facial features.

Photographs that reveal minor physical abnormalities often seen in children with autism or other developmental disabilities could be useful as a first screen for autism, according to a study published 24 May in Autism1.

Some abnormal physical features, such as fused fingers or a wide space between the eyes, are believed to take shape during early prenatal development. Healthy individuals often have one or more of these abnormalities, but having six or more is usually indicative of a developmental disorder.

Some syndromic conditions such as Down syndrome have highly recognizable dysmorphic features, but only a subset of individuals with autism have the abnormalities. For example, some individuals with a duplication of the chromosomal region 16p11.2, which is implicated in autism, have dysmorphic features.

In the new study, clinicians looked at 324 photographs of children between 2 and 5 years of age. Of 149 children diagnosed with an autism spectrum disorder, 26 children have three or more physical abnormalities, the study found. Among children with other developmental disabilities, 30 of 63 children have the features. By contrast, only 6 of 112 typically developing children have dysmorphology, the study found.

When children with a known disorder such as Down syndrome or tuberous sclerosis are excluded from the study, there is no statistically significant difference between the proportion of children with autism and those with another disability who have dysmorphology.

Children who have both autism and dysmorphology are also more likely than those with autism alone to have seizures, the study found.

References:

  1. Angkustsiri K. et al. Autism Epub ahead of print (2011) PubMed