Screening and Diagnosis
DISCLAIMER – The Autism Resource Foundation provides general information to the autism community. The information comes from a variety of sources, and the Autism Resource Foundation does not independently verify any of it, nor does it necessarily reflect the views and/or opinions of the Autism Resource Foundation. Nothing on this website should be construed as medical advice. Always consult your doctor regarding the needs of your family.
The media is filled with stories of a dramatic rise in autism diagnoses. Parents worry that any difference in their child's behavior or development could be a sign of a lifelong disability. Sometimes these worries are unnecessary. Other times, careful observation can lead to early diagnosis, early treatment, and, with luck, a positive outcome.
Noticing Early Signs of Autism
Selecting a Professional to Screen for and Diagnose Autism
The "right" professional may be a psychologist, a developmental pediatrician or a pediatric neurologist -- but the most important criteria is that the expert you choose has experience with and knowledge of autism spectrum disorders.
How Do Professionals Screen for and Diagnose Autism?
After the Autism Diagnosis
American Academy of Neurology
This is a summary of the American Academy of Neurology (AAN) and Child Neurology Society (CNS) guideline on screening and diagnosis for autism. This practice parameter reviews the available empirical evidence and gives specific recommendations for the identification of children with autism. This approach requires a dual process: 1) routine developmental surveillance and screening specifically for autism to be performed on all children to first identify those at risk for any type of atypical development, and to identify those specifically at risk for autism; and 2) to diagnose and evaluate autism, to differentiate autism from other developmental disorders.
Screening And Diagnosis Of Autism
LEVEL ONE: Routine developmental surveillance screening specifically for autism
LEVEL TWO: Diagnosis and evaluation of autism
Good Evidence Supports
This guideline summary is evidence-based. The AAN uses the following definitions for the level of recommendation and classification of evidence. *Definitions for strength of the recommendations: Level A: Established as effective, ineffective or harmful, (or established as useful/predictive or not useful/predictive) for the given condition in the specified population. Level B: Probably effective, ineffective or harmful (or probably useful predictive or not useful/predictive) for the given condition in the specified population. Level C: Possibly effective, ineffective or harmful (or possibly useful predictive or not useful/predictive) for the given condition in the specified population. Level U: Data inadequate or conflicting. Given current knowledge, treatment (test, predictor) is unproven.
This is an educational service of the American Academy of Neurology. It is designed to provide members with evidence-based guideline recommendations to assist with decision-making in patient care. It is based on an assessment of current scientific and clinical information, and is not intended to exclude any reasonable alternative methodologies. The AAN recognizes that specific patient care decisions are the prerogative of the patient and the physician caring for the patient, based on the circumstances involved. Physicians are encouraged to carefully review the full AAN guidelines so they understand all recommendations associated with care of these patients.
American Academy of Pediatrics
Abstract: The American Academy of Pediatrics endorses and accepts as its policy the Practice Parameter: Screening and diagnosis of autism.
The Guidelines are available as a PDF file from the American Academy of Neurology Web site free-of-charge at: http://www.aan.com/professionals/practice/pdfs/gl0063.pdf. (Adobe Acrobat PDF format)
Autism Society of America (ASA)
A brief observation in a single setting cannot present a true picture of an individual's abilities and behaviors. Parental (and other caregivers' and/or teachers) input and developmental history are very important components of making an accurate diagnosis.
As part of a well-baby/well-child visit, your child's doctor should do a "developmental screening" asking specific questions about your baby's progress. The National Institute of Child Health and Human Development (NICHD) lists five behaviors that signal further evaluation is warranted:
Having any of these five "red flags" does not mean your child has autism. But because the characteristics of the disorder vary so much, a child showing these behaviors should have further evaluations by a multidisciplinary team. This team may include a neurologist, psychologist, developmental pediatrician, speech/language therapist, learning consultant, or other professionals knowledgeable about autism.
Consulting With Professionals
This multidisciplinary assessment team may include some or all of the following professionals (they may also be involved in treatment programs):
Developmental pediatrician - Treats health problems of children with developmental delays or handicaps.
It is important that parents and professionals work together for the child's benefit. While professionals will use their experience and training to make recommendations about your child's treatment options, you have unique knowledge about his/her needs and abilities that should be taken into account for a more individualized course of action.
Once a treatment program is in place, communication between parents and professionals is essential in monitoring the child's progress. Here are some guidelines for working with professionals:
Autism is a common developmental disorder, but it can be difficult to identify in a young child. Increasingly, physicians have been called upon to perform routine autism screenings. All autism spectrum disorders are defined by deficits in three core areas1:
In 2000, a recent practice parameter from the American Academy of Neurology, which was supported by the American Academy of Pediatrics, called for the routine screening of all children for autism.
"Autism is a common disorder of childhood. Yet, it often remains unrecognized and undiagnosed until or after late preschool age because appropriate tools for routine developmental screening and screening specifically for autism have not been available. Early identification of children with autism and intensive, early intervention during the toddler and preschool years improves outcome for most young children with autism.” (Abstract of Practice parameter: Screening and diagnosis of autism. Neurology 2000, 55: 468-79.)
As stated above, routine screening is crucial because of autism’s prevalence, the difficulty in diagnosing the disorder, and because children with autism who receive early identification and intensive intervention have the best prognosis. Despite these reasons and recommendations, most children are never screened for autism. However, when a routine developmental screening raises concerns, or a child is at risk of atypical development, an autism screening is imperative.
The term “autism” refers to a wide range of autism spectrum disorders, from a child with “classic” autism who is non-verbal and asocial, to a high-functioning child with idiosyncratic social skills, play, and language. (Please see Autism Spectrum Disorders for a more detailed explanation of the various clinical categories of autism.) All autism spectrum disorders are defined by deficits in three core areas: social skills, communication, and behavior and interests. Because these deficits may be mild, autism can be difficult for a physician to identify, especially without special training or within a busy medical practice.
The basic screening for autism is as simple as the disorder is complex, taking less than five minutes. There are a variety of screening tools for autism, but they share a common goal. An autism screening enables a physician to target the three core areas of the disorder through a combination of observation and interaction. (For more information about autism screening tools, including examples, please see the Screening Tools section.)
How are screening tools used?
Screening tools are brief measures that differentiate children who are at risk for atypical development from those who are not. They range from effective questionnaires given to parents in waiting rooms to brief, but purposeful, give-and-take exchanges and observations during pediatric exams. Often, screening tools can help eliminate worries of developmental delays, by screening children “out,” rather than “in.”
Screening by itself does not provide a diagnosis, but is the first key step in the diagnostic process. Therefore, it is important for health care providers to immediately refer those flagged as “at risk” during screening to diagnostic specialists for more extensive diagnostic evaluation and referral for appropriate intervention. Please visit our Screening Process section for key guidelines about screening, referral, and diagnosis.
Screening tools have applications for physicians, healthcare providers, clinics, day care center providers, schools, parents, and others who work with young children. Screening tools are available to identify a variety of concerns from broad-based developmental disorders to autism spectrum disorders to other related disorders, such as attention deficit disorder and bipolar disorder.
Our current focus is developmental and autism spectrum disorders. Please revisit this Web section in the future as we expand our list of disorders and related screening tools.
Screening recommended at every well visit
In recent years, leading medical organizations have issued a number of policy statements that provide guidelines for the screening and diagnosis of autism spectrum disorders and call for routine developmental screening in young children. In keeping with these statements, First Signs recommends that a physician or trained nurse practitioner perform a routine developmental screening at every well visit starting at four months of age.
First Signs recommends that physicians conduct developmental screening at every well child visit (minimally, at all well visits between 12 and 36-months) for any type of atypical development. If the developmental screening indicates a concern, a simple autism screening should be performed, along with a formal audiological assessment, a lead screen for pica, and a referral to Early Intervention and to a specialist for a developmental evaluation. If the autism screening flags a potential problem, the child should be should be referred to a specialist for formal diagnostic testing. For older verbal children (ages 4 and older), an Asperger Syndrome screen may be appropriate with referral to a diagnostic specialist.
Why are screening tools important?
Screening tools encourage routine and systematic surveillance of developmental milestones and concerns. Many high quality screening tools rely upon parent report, which has been proven to increase screening tool accuracy. They stimulate dialogue between practitioners and parents about the more subtle aspects of development—social, emotional, and communication. Looking more carefully and qualitatively at developmental milestones allows parents’ concerns to be addressed in a timely manner and improves outcomes for all children, not just those challenged by autism and developmental disorders.
First Signs recommends “sensitive” screening tools over screening tools with high “specificity” (those proven to identify children at risk vs. those that screen out children who are not at risk), since the prevalence of children with autism spectrum and other childhood disorders is dramatically on the rise. By identifying as many children as possible as early as possible, effective interventions can begin immediately. Only with consistent and intensive intervention, will children with autism and related disorders experience real improvement.
Screening tools and related information to help clinicians
To assist physicians and other healthcare providers in the screening process, First Signs has provided information and ratings on several validated screening tools that are brief, accurate, and cost-effective. The Screening Tools section gives physicians and other healthcare providers access to information about the best screening tools currently available.
Furthermore, we have developed the First Signs Screening Kit, which includes several highly validated screening tools, screening guidelines, an educational video, a developmental milestones wall chart, and an Early Intervention referral guide.
The future of screening in early childhood
First Signs will follow the introduction of newer and more improved screening tools as they are developed, field tested, and normed on large populations of children in years to come. Our recommended screening tools will keep in step with such changes so that we always offer physicians, professionals, and parents the most current information on screening tools available.
Autism Diagnosis and Treatment: Getting Professional Help for Your Child
If you’ve spotted warning signs of autism in your child, it’s important to get a medical evaluation to either confirm or rule out the disorder. However, diagnosing autism is not always a quick ‘n easy process. The good news is that you don’t need an autism diagnosis to begin seeking treatment for your child’s symptoms. Early intervention makes a big difference with all developmental delays, so don’t wait! Start researching your autism treatment options and get your kid into therapy as soon as possible.
Note to parents
The road to an autism diagnosis can be difficult and time-consuming. According to the American Academy of Neurology, it is often 2 to 3 years after the first symptoms of autism are recognized before an official diagnosis is made. This is due in large part to concerns about labeling or incorrectly diagnosing the child. However, an autism diagnosis can also be delayed if the doctor doesn’t take a parent’s concerns seriously or if the family isn’t referred to health care professionals who specialize in developmental disorders.
If you’re worried that your child has autism, it’s important to seek out a medical diagnosis. But don’t wait for that diagnosis to get your child into treatment. Early intervention during the preschool years will improve your child’s chances for overcoming his or her developmental delays. So look into treatment options and try not to worry if you’re still waiting on a definitive diagnosis. Putting a potential label on your kid’s problem is far outweighed by the need to treat the symptoms.
Diagnosing autism spectrum disorders
In order to determine whether your child has autism, a related autism spectrum disorder, or another developmental condition, clinicians look carefully at the way your child socializes, communicates, and behaves. Diagnosis is based on the patterns of behavior that are revealed.
If you are concerned that your child has an autism spectrum disorder and developmental screening confirms the risk, ask your family doctor or pediatrician to refer you immediately to an autism specialist or team of specialists for a comprehensive evaluation. Since the diagnosis of autism is complicated, it is essential that you meet with experts who have training and experience in this highly-specialized area.
The team of specialists involved in diagnosing your child may include a:
The Diagnostic Evaluation
Diagnosing autism is not a brief process. There is no single medical test that can diagnose it definitively; instead, in order to accurately pinpoint your child's problem, multiple evaluations and tests are necessary.
Autism Spectrum Disorders Diagnosis
In the first phase of the diagnostic evaluation, you will give your doctor background information about your child’s medical, developmental, and behavioral history. If you have been keeping a journal or taking notes on anything that concerned you, turn over that information. The doctor will also want to know about your family’s medical and mental health history.
The medical evaluation includes a general physical, a neurological exam, lab tests, and genetic testing. You child will undergo this full screening to determine the cause of his or her developmental problems and to identify any co-existing conditions.
Since hearing problems can result in social and language delays, they need to be excluded before autism can be diagnosed. Your child will undergo a formal audiological assessment where he or she is tested for any hearing impairments, as well as any other hearing issues or sound sensitivities that sometimes co-occur with autism.
Developmental specialists will observe your child in a variety of settings to look for unusual behavior associated with the autism spectrum disorders. They may watch your child playing or interacting with other people.
Because lead poisoning can cause autistic-like symptoms, the National Center for Environmental Health recommends that all children with developmental delays be screened for lead poisoning
Depending on your child's & symptoms and their severity, the diagnostic assessment may also include speech, intelligence, social, sensory processing, and motor skills testing. These tests can be helpful not only in diagnosing autism, but also for determining what type of treatment your child needs:
Autistic Children and IQ Tests
If your child’s intelligence is being assessed, ask for an IQ test that doesn’t require language abilities, such as the Test for Nonverbal Intelligence (TONI).
Related medical conditions
There are several medical conditions which occur more frequently in people with autism than in the general population. Because of the increased risk, it is a good idea to familiarize yourself if your child has autism or other developmental delays.
Because autism varies widely in severity and manifestations, making a diagnosis may be difficult. There isn't a medical test to pinpoint the disorder. Instead, a formal evaluation consists of observing your child and talking to you about how your child's social skills, language skills and behavior have developed and changed over time. To help reach a diagnosis, your child may undergo a number of developmental tests covering speech, language and psychological issues.
Although the signs of autism often appear by 18 months, the diagnosis sometimes isn't made until age 2 or 3, when there may be more obvious delays in language development. Early diagnosis is important because early intervention — preferably before age 3 — seems to be associated with the best chance for significant improvement.