Although there are many concerns about labeling a young child with an autism spectrum disorder (ASD), the earlier the diagnosis of ASD is made, the earlier needed interventions can begin. Evidence over the last 15 years indicates that intensive early intervention in optimal educational settings for at least 2 years during the preschool years results in improved outcomes in most young children with ASD.¹

In evaluating a child, clinicians rely on behavioral characteristics to make a diagnosis. Some of the characteristic behaviors of ASD may be apparent in the first few months of a child's life or they may appear at any time during the early years. For the diagnosis, problems in at least one of the areas of communication, socialization, or restricted behavior must be present before the age of 3. The diagnosis requires a two-stage process. The first stage involves developmental screening during "well child" check-ups; the second stage entails a comprehensive evaluation by a multidisciplinary team.²

Screening

A well child check-up should include a developmental screening test. If your child's pediatrician does not routinely check your child with such a test, ask that it be done. Your own observations and concerns about your child's development will be essential in helping to screen your child.² Reviewing family videotapes, photos, and baby albums can help parents remember when each behavior was first noticed and when the child reached certain developmental milestones.

Several screening instruments have been developed to quickly gather information about a child's social and communicative development within medical settings. Among them are the Checklist of Autism in Toddlers (CHAT),³ the modified Checklist for Autism in Toddlers (M-CHAT),⁴ the Screening Tool for Autism in Two-Year-Olds (STAT),⁵ and the Social Communication Questionnaire (SCQ)⁶ (for children 4 years of age and older).

Some screening instruments rely solely on parent responses to a questionnaire and some rely on a combination of parent report and observation. Key items on these instruments that appear to differentiate children with autism from other groups before the age of 2 include pointing and pretend play. Screening instruments do not provide individual diagnosis but serve to assess the need for referral for possible diagnosis of ASD. These screening methods may not identify children with mild ASD, such as those with high-functioning autism or Asperger syndrome.

During the last few years, screening instruments have been devised to screen for Asperger syndrome and higher functioning autism. The Autism Spectrum Screening Questionnaire (ASSQ),⁷ the Australian Scale for Asperger's Syndrome,⁸ and the most recent, the Childhood Asperger Syndrome Test (CAST),⁹ are some of the instruments that are reliable for identification of school-age children with Asperger syndrome or higher functioning autism. These tools concentrate on social and behavioral impairments in children without significant language delay.

Further evaluation is indicated if your child's doctor sees any of the possible indicators of ASD following the screening process or during a routine well child check-up.

Comprehensive Diagnostic Evaluation

The second stage of diagnosis must be comprehensive in order to accurately rule in or rule out an ASD or other developmental problem. This evaluation may be done by a multidisciplinary team that includes a psychologist, a neurologist, a psychiatrist, a speech therapist, or other professionals who diagnose children with ASD.

Because ASDs are complex disorders and may involve other neurological or genetic problems, a comprehensive evaluation should entail neurologic and genetic assessment, along with in-depth cognitive and language testing (see Footnote 2). In addition, measures developed specifically for diagnosing autism are often used. These include the Autism Diagnosis Interview-Revised (ADI-R)¹⁰ and the Autism Diagnostic Observation Schedule (ADOS-G).¹¹ The ADI-R is a structured interview that contains over 100 items and is conducted with a caregiver. It consists of four main factors--the child's communication, social interaction, repetitive behaviors, and age-of-onset symptoms. The ADOS-G is an observational measure used to "press" for sociocommunicative behaviors that are often delayed, abnormal, or absent in children with ASD.

Still another instrument often used by professionals is the Childhood Autism Rating Scale (CARS).¹² It aids in evaluating the child's body movements, adaptation to change, listening response, verbal communication, and relationship to people. It is suitable for use with children over 2 years of age. The examiner observes the child and also obtains relevant information from the parents. The child's behavior is rated on a scale based on deviation from the typical behavior of children of the same age.

Two other tests that should be used to assess any child with a developmental delay are a formal audiologic hearing evaluation and a lead screening. Although some hearing loss can co-occur with ASD, some children with ASD may be incorrectly thought to have such a loss. In addition, if the child has suffered from an ear infection, transient hearing loss can occur. Lead screening is essential for children who remain for a long period of time in the oral-motor stage in which they put any and everything into their mouths. Children with an autistic disorder usually have elevated blood lead levels (see Footnote 2).

Customarily, an expert diagnostic team has the responsibility of thoroughly evaluating the child, assessing the child's unique strengths and weaknesses, and determining a formal diagnosis. The team will then meet with the parents to explain the results of the evaluation.

Although parents may have been aware that something was not "quite right" with their child, it is a devastating blow when the diagnosis is given. At such a time, it is hard to stay focused on asking questions. However, the time in which members of the evaluation team are together is the best opportunity for parents to ask questions and get recommendations on what further steps they should take for their child. Learning as much as possible at this meeting is very important, but it is helpful to leave this meeting with the name or names of professionals who can be contacted if the parents have further questions.

References

1. Filipek, P.A., Accardo, P.J., Baranek, G.T., Cook, E.H., Dawson, G., Gordon, B., et al. (1999). The screening and diagnosis of autism spectrum disorders. Journal of Autism and Developmental Disorders, 29(2), 439-484.
2. Filipek, P.A., Accardo, P.J., Ashwal, S., Baranek, G.T., Cook, Jr. E.H., Dawson, G., et al. (2000). Practice parameter: screening and diagnosis of autism. Neurology, 55, 468-479.
3. Baird, G., Charman, T., Baron-Cohen, S., Cox, A., Swettenham, J., Wheelwright, S., Drew, A. (2000). A screening instrument for autism at 18 months of age: A 6-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 39, 694-702.
4. Robbins, D.I., Fein, D., Barton, M.I., & Green, J.A. (2001). The modified checklist for autism in toddlers: An initial study investigating the early detection of autism and pervasive developmental disorders. Journal of Autism and Developmental Disorders, 31(2), 149-151.
5. Stone, W.L., Coonrod, E.E., & Ousley, O.Y. (2000). Brief report: Screening tool for autism in 2-year-olds (STAT): Development and preliminary data. Journal of Autism and Developmental Disorders, 30(6), 607-612.
6. Berument, S.K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. British Journal of Psychiatry, 175, 444-451.
7. Ehlers, S., Gillberg, C., & Wing, L. (1999). A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school-age children. Journal of Autism and Developmental Disorders, 29(2), 129-141.
8. Garnett, M.S., & Attwood, A.J. (n.d.). The Australian scale for Asperger's syndrome. In Tony Attwood. (1997). Asperger's syndrome: A guide for parents and professionals. London: Jessica Kingsley Publishers.
9. Scott, F.J., Baron-Cohen, S., Bolton, P., & Brayne, C. (2002). The cast (childhood Asperger syndrome test): Preliminary development of a UK screen for mainstream primary-school-age children. Autism, 2(1), 9-31.
10. Tadevosyan-Leyfer, O., Dowd, M., Mankoski, R., Winklosky, B., Putnam, S., McGrath, L., et al. (2003). A principal components analysis of the autism diagnostic interview [revised]. Journal of the American Academy of Child and Adolescent Psychiatry, 42(7), 864-872.
11. Lord, C., Risi, S., Lambrecht, L., Cook, E.H., Leventhal, B.L., DiLavore, P.C., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205-230.
12. Van Bourgondien, M.E., Marcus, L.M., & Schopler, E. (1992). Comparison of DSM-III-R and childhood autism rating scale diagnoses of autism. Journal of Autism and Developmental Disorders, 22(4), 493-506.