Screening and Diagnosis

Barbaro, J., & Dissanayake, C. (2009). Autism Spectrum Disorders in infancy and toddlerhood: A review of the evidence on early signs, early identification tools, and early diagnosis. Journal of Developmental and Behavioral Pediatrics, 30, 447-459.

Despite the advances in understanding the importance of diagnosing ASD at a young age, the average age of diagnosis continues to hover around the 3 year mark (and much later for some children.) Although the benefits of early intervention are well known, many children with ASD are clearly missing out on vital services as early intervention is only available from birth until a child's 3rd birthday. This review synthesizes the advancements in ASD, screening tools, and knowledge of high risk infants in an effort to help reduce the age of diagnosis. The review includes an examination of retrospective video analysis of children that suggests four behaviors in very young children (at their 1st birthday party) correctly identified 90% of the children later diagnosed with ASD. These behaviors include: reduced and lack of eye contact with others, reduced or lack of orienting to name, an absence of showing items to others, and a lack of pointing. Parent reports and interviews demonstrate a similar list of behaviors. The authors suggest that limitations with the DSM-IV and early diagnosis stem from the fact that most characteristics listed in the manual are rarely seen in infants and toddlers. The authors also argue that improvements in early diagnosis will require modifications to the DSM list of criteria to include infant and toddler behaviors. The authors state that the most common finding in the studies they reviewed, in terms of early characteristics of ASD in infants and toddlers, indicated deficits in social attention and communication were apparent from an early age and also pointed to a diagnosis of ASD. However, there are currently no screening instruments available sensitive and specific enough to provide universal screening for all children. The authors suggest that future research should investigate ASD specific behaviors found in infants and toddlers.

King, T.M., Tandon, S.D., Macias, M.M., Healy, J.A., Duncan, P.M., Swigonski, N.L., Skipper, S.M., & Lipking, P.H. (2010). Implementing developmental screening and referrals: Lessons learned from a national project. Pediatrics, 125(2), 350-360.

The earlier children are identified with an ASD, the sooner a child can access early intervention services. Because early identification and intervention is so important, the American Academy of Pediatrics (AAP) recommends that all children be screened for developmental delay at 9, 18, 24, and 30 months of age. The AAP also recommends that those who are red flagged during such screenings be referred to a specialist and enrolled in early intervention. In this report, the AAP assessed how often these recommendations were being followed. Researchers noted that while most pediatricians were performing the screening, the subsequent steps of following up with a specialist and enrollment in early intervention needed improvement. For instance, approximately 39 percent of children who failed the screening were not referred for further assessment or intervention, and in those that were referred, many times parents did not follow through with the recommendations. The study suggests that pediatricians need to be more proactive in follow through with high risk children and in communicating the importance of exploring early intervention to parents.

Matson, J.L., Rieske, R.D., & Tureck, K. (2011). Additional considerations for the early detection and diagnosis of autism: Review of available instruments. Research in Autism Spectrum Disorders, 5, 1319-1326.

This review examines a wide range of diagnostic and screening tools for young children. The authors conclude that more tools are needed for screening very young children; however, a one size fits all method of screening is not the answer. In other words, it is unlikely that a single tool will be a sufficient assessment tool given the nature of ASD. The authors also suggest that given the overlap between ASD and ADHD, and even anxiety, a broader screening tool used in conjunction with developmental milestone checklists might be more advantageous for early screening and diagnosis. Surprisingly, the authors state that given the current state of screening and diagnosis, screening for all children would not be worthwhile, but rather, only for children who display red flags.

Pierce, K., Carter, C., Weinfeld, M., Desmond, J., Hazin, R., Bjork, R., & Gallagher, N. (2011). Detecting, studying, and treating Autism early: The one-year well-baby check-up approach. Pediatrics, 159(3), 458-465.

Screening for autism is often a difficult task for both parents and medical providers. Parents are not always sure what to look for or ask about and medical providers feel the pressure of today's fast-paced medical exams. For the purpose of this study, researchers examined the ease of use of the five minute Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist, developed by Dr. Amy Wetherby. This tool was used by 137 pediatricians with 10,500 infants in the study. From the data collected, researchers concluded that the checklist could be completed by parents while in the waiting room and only took physicians two minutes to review during the one year check-up. The checklist was able to identify autism or developmental delay in approximately 75 percent of cases. The study also noted that all 137 pediatricians were still using the checklist well after the study ended.