Autism in the Toddler Years: Getting a Diagnosis, Getting Help
Almost two decades ago, Nancy D. Wiseman started down a relatively untraveled path. First she noticed that her toddler, Sarah, had stopped babbling, accepting her hugs, and looking at her. She spoke to Sarah's doctor, but was told to "wait and see" what happened. Months went by before she got a name for Sarah's condition: autism.1
Since then, the path to an autism diagnosis has been worn by the footsteps of many more parents, as autism rates rose dramatically in the United States.2 To make the journey shorter, many groups, including one founded by Ms. Wiseman, have encouraged parents and doctors to recognize the signs of autism sooner. They have succeeded, but their work is unfinished.
The average age of diagnosis has fallen to 4,3 but research says youngsters can be accurately diagnosed by age 2.4, 5, 6, 19
"Sadly, I still hear many stories about pediatricians dismissing parent concerns and I find it very troubling, given the massive public information and training available. But it's much less than it used to be. It is still very difficult in many communities – particularly the more rural ones – to get an early diagnosis and appropriate intervention services," said Ms. Wiseman, who founded First Signs in 2000 to promote early detection.
Why Should Autism Be Detected Early?
Early diagnosis is critical because it leads to earlier intervention. Children who receive intervention services sooner make more developmental gains than children who miss out on such therapies.7, 8 Programs based on Applied Behavior Analysis, a system of shaping and rewarding desired behavior, have the most evidence behind them.
Research says that parents are often the first to spot warning signs during the infant and toddler years. They notice that their child is not interacting with relatives, responding to his name, learning to talk, or playing the way other children do. Some see their child flapping his hands, rocking, staring endlessly at spinning objects, or walking on tiptoes, all behaviors rather common to autism spectrum disorder (ASD).
And while many toddlers tantrum, those with ASD may do so for seemingly unusual reasons, such as a minor change in routine or a certain texture of clothing, problems made worse by communication delays. Autism falls along a spectrum, so symptoms may be mild or severe. Symptoms in girls may differ somewhat from those in boys, who are almost five times as likely to be diagnosed with autism.9-11
Since 2006, the American Academy of Pediatrics (AAP), an influential organization of physicians who specialize in treating children, has recommended screening youngsters for developmental problems regularly beginning at 9 months, and screening for autism specifically at the 18-month and 24-month check-ups. Of course, parents do not need to wait for a formal screening to share concerns with their child's doctor or nurse.
Screening Tools for Autism
Doctors have tools at their disposal that didn't exist 20 years ago, such as the Modified Checklist for Autism in Toddlers, or M-CHAT.
Parents can even take the M-CHAT online, at https://www.m-chat.org. They should discuss results with their doctor. Sample questions include:
- "Does your child point with one finger to show you something interesting?" (This is a social skill in which children seek to engage their parents.)
- "Does your child try to copy what you do?" (Imitation is a key skill that is often impaired in autism)
- "Does your child understand you when you tell him or her to do something?" (A delay in receptive language – the ability to understand words – is common in autism, as well as other developmental conditions.)
Such a questionnaire only detects a risk for autism, not autism itself; some children may screen "positive" although they do not have ASD. Other tools, such as the Infant-Toddler Checklist, may be more accurate in screening for autism from ages 9 months to 24 months.12 Doctors can determine whether further testing is necessary and whether to send the child to a specialist for a full evaluation.
Delays in Diagnosis
A U.S. study found that parents notice problems with their child's development around his second birthday and discuss it with a health care provider within a few months, on average. But those researchers found a nearly 3-year average delay between that conversation, and the child's eventual diagnosis with autism spectrum disorder.13
About half of the parents of children with autism or developmental delay were told by their child's health care provider that the child was fine, it was too early to tell if something was wrong, and/or that he would "grow out of" the problem. Children whose parents were on the receiving end of such responses had longer delays in obtaining an ASD diagnosis.13
A separate study found a 13-month average delay between the developmental evaluation, which took place at age 4, and the autism diagnosis at age 5.14
In an open letter to his colleagues, pediatrician Paul G. Fisher urged doctors to listen carefully to parents and draw out their concerns. "In my own practice, I always have been struck by how grateful parents are when directly asked, 'Are you concerned about autism?' No parent has ever resented that question."15
Finding Early Intervention services
Nonetheless, children do not need to wait for a medical diagnosis in order to begin receiving help. In the United States, parents can refer their children to their local early intervention and school systems for a free evaluation of suspected developmental delays and learning disabilities. Infants and toddlers can receive therapies at little or no cost, depending on where they live.16 Children ages 3 to 21 are eligible for free services through their public schools.17Find out how to contact your intervention or Child Find office, below.
Lisa D. Wiggins PhD, of the Centers for Disease Control's National Center on Birth Defects and Developmental Disabilities, urges parents to contact their intervention office or school system for evaluation around the same they bring their concerns to their child's health care provider.
A Health-Care Evaluation for Autism and Related Conditions
The health care provider may refer youngsters to a pediatric specialist or developmental center for medical, psychological, and speech testing. An evaluation may include a hearing test, a speech and language assessment, tests of a child's motor (physical) and cognitive (learning) skills, a medical examination, and blood tests or brain scans, if deemed necessary.
An evaluation may include looking for other conditions that sometimes go along with autism. When diagnosing a patient with ASD, doctors are now asked to indicate whether he or she has:18
- Intellectual disability, which includes an intelligence quotient below 70
- Language impairment
- Medical conditions, such as epilepsy
- Known genetic conditions, such as fragile X syndrome, Rett syndrome, or duplication/deletion syndromes. About 10 percent of people with autism have a genetic condition,19 many of which can be diagnosed through blood and saliva tests.
- Other developmental, mental or behavioral disorders.
Epilepsy, which affects from 5 to 46 percent of people with autism,20 sometimes surfaces in the toddler years or adolescence. Children suspected of having seizures or staring spells can be examined by a neurologist, who may order an electroencephalogram (EEG) test to measure brain waves.
A Generational Shift
Chantal Sicile-Kira says much has changed since her son, Jeremy, 27, was diagnosed with ASD a generation ago. An author, autism consultant and training provider, Ms. Sicile-Kira speaks to parents around the country. Thanks to the educational efforts of many organizations, she said, doctors and preschools are more likely to look for developmental delays, and the public is more familiar with autism. A new U.S. federal-state effort, called Birth to 5: Watch Me Thrive!, promotes developmental screenings in licensed early childhood centers and day care.
"It's well known that early intervention is necessary for any kind of developmental disorder, not just autism, so doctors are less hesitant to pronounce the word 'autism' and less likely to tell parents to wait and see. But it really depends on where you are living," said Ms. Sicile-Kira, author of Autism Spectrum Disorder.
What happens after the diagnosis? The toddler and preschool years can be a blur of doctor appointments, school or early intervention meetings, and therapies for families affected by autism. But Ms. Sicile-Kira urges parents to avoid isolation.
"If you have kids with behavior problems, you have a hard time because you can't go places, you have a hard time finding respite providers, and parents feel they are different from everyone. That's the worst thing, that feeling of being alone," she said.
Family, friends and acquaintances sometimes fail to understand the child's autistic behaviors or needs, she said. "They just think the child is misbehaving and his family should handle it better. There is this feeling that others will not accept you." A recent study of parents in the Simons Simplex autism project confirmed that many felt the weight of social stigma (isolation or rejection) attached to ASD.21
"I want families to realize they are not alone and to reach out online, and also in person, to parent support groups," Ms. Sicile-Kira said.
She also urged parents not to abandon their own social connections, apart from autism. Now that her son is an adult, she finds it important to re-establish those relationships, not just for herself, but because they have helped Mr. Sicile-Kira find a volunteer job and pursue other opportunities as an artist.
"I tell younger parents to keep up those circles of connection. Parenting [a child with special needs] is not a sprint, it's a marathon."
Research note: Families and individuals with autism spectrum disorder play a critical role in helping researchers and clinicians better understand the disorder. Find out how you can participate in Interactive Autism Network (IAN) Research in a secure, online setting. By participating, you can help make new discoveries and empower advocates to improve the lives of children and adults with ASD.
- U.S. Centers for Disease Control and Prevention's Developmental Milestones charts
- List of Early Intervention Offices, serving children with developmental delays from birth to 3, in U.S. states, commonwealths and territories: http://www.cdc.gov/ncbddd/actearly/parents/states.html or http://ectacenter.org/contact/ptccoord.asp
- To refer your child ages 3 to 21 for a free evaluation, contact your local school district about its required "Child Find" program. The U.S. Centers for Disease Control says, "Even if your child is not old enough for kindergarten or enrolled in a public school, call your local elementary school or board of education and ask to speak with someone who can help you have your child evaluated."
- American Academy of Pediatrics Bright Futures Recommendations for Preventive Pediatric Health Care
- Parent Center Hub: information about U.S. special education services from birth to age 21
- The Individuals With Disabilities Education Act (IDEA) for Children With Special Educational Needs is a primer on U.S. special education law for pediatricians and parents, by IAN Director Paul H. Lipkin MD.
- The U.S. Birth to 5: Watch Me Thrive! developmental screening program has information for families, health care providers, early care and education providers, early intervention service and early childhood special education providers, child welfare caseworkers, behavioral health providers, and housing and homeless shelter providers.
- IAN articles about Therapies and Treatments for Autism
- Watch IAN's Webinar on the Early Diagnosis of Autism, a video presentation by Dr. Ami Klin
- Autism Speaks' Learn the Signs of Autism
- Wiseman, N. D. (2006). Could it be autism? the parent's guide to the first signs and next steps (1st ed.). New York: Broadway Books.
- Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators, & Centers for Disease Control and Prevention (CDC). (2009). Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network, united states, 2006. Morbidity and Mortality Weekly Report.Surveillance Summaries (Washington, D.C.: 2002), 58(10), 1-20. doi:ss5810a1 [pii]
- Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators, & Centers for Disease Control and Prevention (CDC). (2014). Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, united states, 2010. Morbidity and Mortality Weekly Report.Surveillance Summaries (Washington, D.C.: 2002), 63(2), 1-21. doi:ss6302a1 [pii]
- Lord, C., Risi, S., DiLavore, P. S., Shulman, C., Thurm, A., & Pickles, A. (2006). Autism from 2 to 9 years of age. Archives of General Psychiatry, 63(6), 694-701. doi:63/6/694 [pii]
- Kleinman, J. M., Ventola, P. E., Pandey, J., Verbalis, A. D., Barton, M., Hodgson, S., . . . Fein, D. (2008). Diagnostic stability in very young children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 38(4), 606-615. doi:10.1007/s10803-007-0427-8 [doi]
- Johnson, C. P., Myers, S. M., & American Academy of Pediatrics Council on Children With Disabilities. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183-1215. doi:peds.2007-2361 [pii]
- Wiggins, L. D., Baio, J., Schieve, L., Lee, L. C., Nicholas, J., & Rice, C. E. (2012). Retention of autism spectrum diagnoses by community professionals: Findings from the autism and developmental disabilities monitoring network, 2000 and 2006. Journal of Developmental and Behavioral Pediatrics : JDBP, 33(5), 387-395. doi:10.1097/DBP.0b013e3182560b2f [doi]
- Volkmar, F. R., Rogers, S. J., Paul, R., & Pelphrey, K. A. (Eds.). (2014). Handbook of autism and pervasive developmental disorders (4th ed.). Hoboken, NJ: John Wiley & Sons.
- Hiller, R. M., Young, R. L., & Weber, N. (2016). Sex differences in pre-diagnosis concerns for children later diagnosed with autism spectrum disorder. Autism : The International Journal of Research and Practice, 20(1), 75-84. doi:10.1177/1362361314568899 [doi]
- Hiller, R. M., Young, R. L., & Weber, N. (2014). Sex differences in autism spectrum disorder based on DSM-5 criteria: Evidence from clinician and teacher reporting. Journal of Abnormal Child Psychology, 42(8), 1381-1393. doi:10.1007/s10802-014-9881-x [doi]
- Mandy, W., Chilvers, R., Chowdhury, U., Salter, G., Seigal, A., & Skuse, D. (2012). Sex differences in autism spectrum disorder: Evidence from a large sample of children and adolescents. Journal of Autism and Developmental Disorders, 42(7), 1304-1313. doi:10.1007/s10803-011-1356-0 [doi]
- Lipkin, P. H., & Hyman, S. L. (2011). Should all children be screened for autism spectrum disorders? yes: Merging science, policy, and practice. American Family Physician, 84(4), 361-367. doi:d10017 [pii]
- Zuckerman, K. E., Lindly, O. J., & Sinche, B. K. (2015). Parental concerns, provider response, and timeliness of autism spectrum disorder diagnosis. The Journal of Pediatrics, 166(6), 1431-9.e1. doi:10.1016/j.jpeds.2015.03.007 [doi]
- Wiggins, L. D., Baio, J., & Rice, C. (2006). Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample. Journal of Developmental and Behavioral Pediatrics : JDBP, 27(2 Suppl), S79-87. doi:00004703-200604002-00005 [pii]
- Fisher, P. G. (2015). Will you listen to my concerns about autism? The Journal of Pediatrics, 166(6), 1329-1332. doi:http://dx.doi.org.ezp.welch.jhmi.edu/10.1016/j.jpeds.2015.04.020
- Center for Parent Information and Resources. (2014a). Services in your state for infants and toddlers. Retrieved from http://www.parentcenterhub.org/repository/services-ei/
- Center for Parent Information and Resources. (2014b). Special education services for preschoolers with disabilities. Retrieved from http://www.parentcenterhub.org/repository/preschoolers/
- American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Association.
- Centers for Disease Control and Prevention. (2015). Autism spectrum disorder, data and statistics. Retrieved from http://www.cdc.gov/ncbddd/autism/data.html
- Spence, S. J., & Schneider, M. T. (2009). The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatric Research, 65(6), 599-606. doi:10.1203/PDR.0b013e31819e7168 [doi]
- Kinnear, S. H., Link, B. G., Ballan, M. S., & Fischbach, R. L. (2015). Understanding the experience of stigma for parents of children with autism spectrum disorder and the role stigma plays in families' lives. Journal of Autism and Developmental Disorders, doi:10.1007/s10803-015-2637-9[doi]
Photo credits: iStock, and Chantal Sicile-Kira.