To make the biggest difference, screen early for autism spectrum disorders

October 1, 2005

An improved prognosis for children with autism depends on prompt and intensive intervention. That can happen only if the condition is screened for and diagnosed at a very young age.

At least one in 500 people has autism spectrum disorder (ASD). In families that have an autistic child, there is an increased risk that a sibling will have autism or another developmental disorder. If, therefore, you're like most pediatricians, you have one or more children with ASD in your practice-but you may never know that if you don't screen for the disorder.

Recent guidelines from the American Academy of Pediatrics (AAP) and the American Academy of Neurology (AAN) highlight the importance of early diagnosis of autism spectrum disorders.1,2 The "Learn the Signs-Act Early" campaign, launched by the Centers for Disease Control and Prevention (CDC) in collaboration with the AAP and several other organizations, aims to increase awareness of autism and promote early developmental screening, as well. The "Autism A.L.A.R.M." document outlines important steps in that campaign: Autism is prevalent, Listen to parents, Act early, Refer, and Monitor. Resources include "Developmental Screening Guidelines for Children," available on the AAP Web site ( http://www.medicalhomeinfo.org/screening/autism.html).

ASD, or pervasive developmental disorder (PDD), is characterized by atypical communication, behavior, and socialization with onset before 3 years of age. This article reviews what you should know about screening for ASD, as well as diagnostic medical evaluation-including genetic testing-and management following diagnosis.

Autism can be diagnosed in children as young as 12 months, particularly when symptoms are severe or the parents or physician are very alert. It is difficult to diagnose autism prior to 9 months because symbolic language skills, such as pointing, are just developing. Another factor that can make early diagnosis challenging is that some children experience a true regression following normal early development.

De Giacomo and colleagues found that parents of children with autism first became concerned about their child at a mean age of 19.1 months but did not seek professional attention until a mean age of 24.1 months.3 Results were similar in two previous studies, conducted in the United Kingdom.4,5

In a retrospective survey of parent members of an autism society in the United States, parents experienced a median delay of almost a year from presentation of their first concern to receipt of a final diagnosis. Some families waited as long as 14 years for a diagnosis. Few families (only 14%) received a final diagnosis of PDD or autism after the first diagnostic evaluation. Many of these parents recalled being reassured by their physician: 36% were advised to "wait and see," 28% were told "don't worry," and 32% recalled that the physician "thought there was no problem."6

A recent study highlighted racial disparities in the early detection of autism. On average, the condition was diagnosed at 6.3 years of age among white children vs 7.9 years among black children.7