Optimizing Outcome in Autism Spectrum Disorders

Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled "Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians," which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.

This study validates the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), a screening tool for low-risk toddlers, and demonstrates improved utility compared with the original M-CHAT. Toddlers (N = 16,071) were screened during 18- and 24-month well-child care visits in metropolitan Atlanta and Connecticut. Parents of toddlers at risk on M-CHAT-R completed follow-up; those who continued to show risk were evaluated. The reliability and validity of the M-CHAT-R/F were demonstrated, and optimal scoring was determined by using receiver operating characteristic curves. Children whose total score was ≥ 3 initially and ≥ 2 after follow-up had a 47.5% risk of being diagnosed with autism spectrum disorder (ASD; confidence interval [95% CI]: 0.41-0.54) and a 94.6% risk of any developmental delay or concern (95% CI: 0.92-0.98). Total score was more effective than alternative scores. An algorithm based on 3 risk levels is recommended to maximize clinical utility and to reduce age of diagnosis and onset of early intervention. The M-CHAT-R detects ASD at a higher rate compared with the M-CHAT while also reducing the number of children needing the follow-up. Children in the current study were diagnosed 2 years younger than the national median age of diagnosis. The M-CHAT-R/F detects many cases of ASD in toddlers; physicians using the 2-stage screener can be confident that most screen-positive cases warrant evaluation and referral for early intervention. Widespread implementation of universal screening can lower the age of ASD diagnosis by 2 years compared with recent surveillance findings, increasing time available for early intervention.

To learn about the lives of young adults with ASD, families with children born 1974-1984, diagnosed as preschoolers and followed into adolescence were contacted by mail. Of 76 eligible, 48 (63%) participated in a telephone interview. Global outcome scores were assigned based on work, friendships and independence. At mean age 24, half had good to fair outcome and 46% poor. Co-morbid conditions, obesity and medication use were common. Families noted unmet needs particularly in social areas. Multilinear regression indicated a combination of IQ and CARS score at age 11 predicted outcome. Earlier studies reported more adults with ASD who had poor to very poor outcomes, however current young people had more opportunities, and thus better results were expected.