Screening and Diagnosis
The CDC currently estimates that 1 out of 68 children will be diagnosed with an Autism Spectrum Disorder, or ASD, and boys are 4 1/2 to 5 times more likely to be diagnosed than girls. Autism Spectrum Disorder is a neurodevelopmental disorder, and children diagnosed with ASD share similar challenges with communication, social ability, and behavior. Diagnosing a child, or an adult, with ASD is not easy. Because no two individuals with ASD exhibit exactly the same characteristics, professionals must approach diagnosis cautiously and conservatively.
Currently, there is no single blood test, genetic test, or brain scan that accurately diagnoses children or adults with ASD. Therefore, ASD cannot be diagnosed in the same way as other conditions, such as diabetes or strep throat. Diagnosis for ASD is done by observing and interacting with the child or adult and administering specific autism screening and diagnostic instruments. When completing this evaluation process, professionals are often trying to provide the best assessment possible with the tools available and may be 'ruling out' other conditions that appear to be similar to autism. Even though a diagnosis may take time, it is crucial to identify any factors that may contribute to an individual's inability to communicate effectively, navigate the social world, or which may cause them to exhibit behavior challenges as early as possible. An individual with ASD may also be diagnosed with other conditions, in addition to autism, and it is important to understand every aspect of an individual's abilities and challenges during the screening process.
Diagnosis for a child with ASD begins with concerns brought up by parents, educators, or medical staff; which often produce a referral to a developmental pediatrician, neurologist, psychologist, or other specialist. These individuals can perform a diagnostic evaluation to make an accurate determination. The evaluation can be done independently or may include a team of professionals. In many cases, conditions that might cause similar delays are ruled out through genetic tests, MRI's, and other blood tests.
If you have any questions or concerns about your child's development, or if you are an adolescent or an adult that has heard about autism and has more questions, the best course of action is to speak with your pediatrician or family practitioner. A candid discussion about delays in communication and social or behavioral challenges will help determine if any further evaluation or assessments are necessary.
For those facing a new diagnosis or working with newly diagnosed families or individuals, we encourage you to read through the links on this page and through our entire Resources section. The resources in this section are designed to help you understand the red flags or warning signs of ASD, when and how individuals should be screened for evaluation, and how an individual may be diagnosed with ASD.
The following websites can provide you with specific information about early signs, symptoms, and characteristics of ASD.
First Signs is dedicated to improving early detection of ASD in very young children. First Signs has information for healthcare providers, community members, and families and even has a helpful section on sharing those first concerns with your healthcare provider.
The Modified Checklist for Autism in Toddlers is a commonly used parent reported developmental screening tool for toddlers between 16 and 30 months of age.
The Centers for Disease Control now has a screening tool webpage specifically for healthcare providers. This webpage helps providers understand when to screen, how to involve families, and what types of screening tools are available.
Developmental Pediatricians are not always found in every town or city. A Developmental Pediatrician is one of several healthcare specialists able to accurately diagnose ASD and / or other developmental or co-morbid disorders. Use this link to help find your closest Developmental Pediatrician.
Getting an ASD diagnosis for an adult is not easy. Autism-Help has developed a Factsheet on Diagnosis of ASD in Adults that may be helpful.
The American Academy of Pediatrics provides an in-depth look at ways to improve screening, surveillance, and identification of disabilities.
The American Academy of Pediatrics also offers recent information, resources for professionals and families, as well as webinars and training materials.
For children diagnosed with ASD and other qualifying diagnoses, Care Connection for Children is a statewide network for children with special healthcare needs. Care Connection for Children provides assistance for specific uninsured and underinsured families, and assistance with medications, testing, durable medical equipment, and hospitalization. For more information regarding a qualifying diagnosis, please contact Care Connection for Children.
Commonwealth Autism Service, CAS, is a major portal for resources and information in the Commonwealth of Virginia. CAS manages a Transdisciplinary Autism Assessment Clinic that offers a transdisciplinary comprehensive diagnostic assessment for children 18 months to 7 years old for whom a diagnosis of autism or another Pervasive Developmental Disorder is suspected. Their website also houses a list of statewide Assessment Centers.
Guides and Factsheets
Medical Home is an important concept for all children, but especially children with complex conditions who often see a wide variety of specialists. A Medical Home is not really a place so much as it is a relationship. For children with ASD, having a Medical Home can help improve the quality and continuity of care between multiple providers. A flowchart has also been developed to help families navigate the complex system of screening and diagnosis.
The American Academy of Neurology's factsheet on ASD screening and diagnosis details the various types of tests that may be ordered for the child suspected of having ASD.
Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening This paper from the American Academy of Pediatrics (AAP) describes an important algorithm for developmental surveillance and screening within a pediatric preventive care visit for children from birth through 3 years of age.
Identification and Evaluation of Children With Autism Spectrum Disorders Full of information, this paper from AAP describes the incidence of and potential causes for ASD, the neurobiological basis of ASD, detailed clinical signs, a continuation on the algorithm for surveillance and screening, and concludes with recommendations for pediatricians regarding the identification and evaluation of children with ASDs.
Videos and Training
ACE offers a variety of videos and trainings to meet the needs of both family members and professionals. Click here to learn more!
The American Academy of Pediatrics has created a Powerpoint training on "Integrating Screening Guidelines in Primary Care Pediatrics" for healthcare providers, and a webinar that offers an update from 2011 and a review of the epidemiology, etiology, demographics, and recommendations for screening, diagnosis, and treatment.
The Centers for Disease Control has developed an extensive online learning module, Autism Case Training (ACT), which provides several types of continuing education credits. This introductory course was developed for health care providers to help them identify Autism Spectrum Disorder, assist a family through the diagnostic process, and care for patients with ASD. Participants will gain knowledge and skills to improve early identification of children with ASD and ensure timely and appropriate care.
Autism Speaks has developed an ASD Video Glossary. This innovative web-based tool was designed to help parents and professionals learn more about the early red flags and diagnostic features of ASD. The glossary contains over a hundred video clips and is available free of charge. Whether you are a parent, family member, friend, physician, clinician, childcare provider, or educator, it can help you see the subtle differences between typical and delayed development in young children and spot the early red flags for ASD.
The National Autism Professional Development Center on ASD (NAPDC) has developed a module on Early Identification of ASD. This module addresses the importance of early identification, including the benefits and challenges to families, communities, and society.
This Early Signs of Autism Video Tutorial was created by the Kennedy Krieger Institute to improve recognition of the early signs of ASD. The tutorial consists of six video clips comparing toddlers who show no signs of ASD to toddlers who show early signs of ASD.
Taught through Autism Internet Modules, anyone can create an account and sign up for their module on Screening Across the Lifespan for Autism Spectrum Disorders.
Research and Articles
Barbaro, J., & Dissanayake, C. (2009). Autism Spectrum Disorder 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.
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.
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 Disorder, 5, 1319-1326.
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.