How is Autism Diagnosed? Part One

So, how is Autism diagnosed? Until recently, autism spectrum disorders (ASD), including Aspergers Syndrome, have been understood as a range of complex neurodevelopment disorders—characterized by social impairments, difficulties in verbal and non-verbal communication, and restricted, repetitive, and stereotyped patterns of behavior.

Psychological therapy

Changes in definition have been proposed and accepted by different organizations and groups in the United States and other parts of the world. The changes have been discussed in other posts; meanwhile, I will address how autism is diagnosed.

At the present time, a single test to diagnose autism does not exist. We do know that a biological or single genetic marker has not been identified, thus, autism cannot be diagnosed with a blood test or imaging studies. It is rather a diagnosis that is primarily identified by behavioral and developmental differences.

As parents know their children better than anyone else, they are usually the first to suspect their child is following a different developmental trajectory.

Autism has its roots in very early development—many parents would report that they saw differences shortly after birth—however, signs of Autism are usually apparent between the first and second birthdays.

Children with high functioning abilities, such as those with Aspergers Syndrome, are often diagnosed later in life. This is partly because their signs and symptoms tend to be milder and partly because their above average cognitive skills allow them to perform well despite their social difficulties. It is not unusual that the Aspergers diagnosis is only suspected during adulthood.

Pediatricians, family physicians, nurse practitioners, physician assistants and other health professionals are in a position of privilege and great duty to notice concerning signs in the children under their care.

The American Academy of Pediatrics and other like-minded organizations, have established guidelines to direct health care providers in their diagnostic journey. It is therefore required that they perform developmental screenings in each and every one of their encounters with a child, and that they perform more in depth evaluations—and appropriate referrals—when necessary.

One of the most important contributions in the field of identification of autism spectrum disorders was made by a local physician, Dr. Chris Plauche Johnson.

Dr. Plauche is a neurodevelopmental pediatrician who, in 2007, led an effort in identifying, evaluating, and managing Autism. The result of this contribution was the catalyst behind the new directives requiring that children receive an autism-specific screening at the ages of 18 months and 24 months.

Amongst the better known Autism screening tools:

  • Modified Checklist for Autism in Toddlers (M-CHAT)
  • Screening Tool for Autism in Two year-olds (STAT)
  • Social Communication Questionnaire (SCQ)
  • High-Functioning Autism Spectrum Screening Questionnaire (ASSQ)
  • Childhood Asperger Syndrome Test (CAST)
  • Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC)

If a child is found to be at-risk for autism, the health provider is then expected to refer the child for a comprehensive autism evaluation, early intervention services and an audiologic evaluation. The provider will also provide education to the parents on their child’s development and schedule a follow up appointment.

Other efforts toward early identification and diagnosis is discussed the second part of this blog series.

by A. Patricia Del Angel, M.D., Clinical Director, Autism Community Network

Sources: American Academy of Pediatrics (AAP), American Psychiatry Association (APA), Mayo Clinic, Autism Speaks, National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Mental Health (NIMH).

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Jennifer Allen

After an extensive career broadcast marketing, Jennifer and her husband searched for answers when their oldest son hit the kinder years with great difficultly. After finally learning that their oldest son had Aspergers Syndrome, she left her career in television and became a full time mother to both of her sons. Jennifer elicited the participation of her sons and together they produced several independent programs including a children’s animated series titled Ameriquest Kids (now distributed by Landmark Media) as well as her documentary and book titled, Coping to Excelling: Solutions for school-age children diagnosed with High-Functioning Autism or Aspergers Syndrome. The need for more information encouraged Jennifer to elicit a team of autism experts to provide weekly, original content to a website free to anyone seeking to live their best under the diagnosis of High-Functioning Autism/Aspergers Syndrome… appropriately titled:

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3 thoughts on “How is Autism Diagnosed? Part One

  1. Dear Dr. Allen,

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  2. Can anyone direct me to resources for my 19 yr old? She was diagnosed with PDD-NOS when she was 16. We pulled her out of school and homeschooled due to social, sensory and anxiety issues, so she has never had an IEP or any paper trail from school to follow her. She has gotten some OT and seen a therapist for her anxiety and was released. Her sensory issues in the last couple months have gotten SO much worse! Not sure why. Also, she also has a joint disorder which makes it hard for her to have more than a minor part-time job without suffering the physical consequences (daily pain, stumbling, knees giving out). If you are diagnosed high-functioning, can she be considered for getting financial help through the state? At this rate, she will never be self sufficient (although she is hoping otherwise). I’m not sure where to start. We live in Kentucky.

  3. While the work to develop better diagnostic tools for children suspected of being on the autism spectrum continues, a tool for diagnosis of adult autism is still lacking. Answering the question of “why am I the way I am “ is important for adult people.