Diagnostic Journey

Autism is complex, increasingly common, and has a significant impact on children and families.
However, evidence-based autism interventions can lead to improved long-term outcomes when initiated early during a key window of neurodevelopment.1–4

Limitations in Today’s Autism Diagnostic Pathway

Early diagnosis and intervention present a unique opportunity for children with autism spectrum disorder (ASD) to achieve improved outcomes.4–6 But for the last 20 years, the average age of diagnosis has remained unchanged at 4 years and 2 months,7 an average delay of 3 years between parental concern and a formal ASD diagnosis.8 Delays can result in missed opportunities during a critical window in the child’s neuro-development.9

Developmental Screening Timeline

Legend
  • AAP recommended ASD screenings
  • General developmental screenings
  • Developmental concerns reported by parents
  • Average age of formal ASD diagnosis

The American Academy of Pediatrics (AAP) guidelines recommend screening for ASD in all children at 18 and 24 months as a complement to the general developmental screening of children at 9, 18, and 30 months.10 However, caregivers often report developmental concerns to pediatricians starting at 14 months.11

Legend
  • AAP recommended ASD screenings
  • General developmental screenings
  • Developmental concerns reported by parents
  • Average age of formal ASD diagnosis

The American Academy of Pediatrics (AAP) guidelines recommend screening for ASD in all children at 18 and 24 months as a complement to the general developmental screening of children at 9, 18, and 30 months.10 However, caregivers often report developmental concerns to pediatricians starting at 14 months.11

Introducing ASD-specific interventions earlier has the potential to substantially improve outcomes when compared to children not receiving the same level of intervention, helping to achieve:

  • 2x cognitive developmental gains2-3

  • Significantly higher IQ2-3

A formal ASD diagnosis (educational and/or clinical) is required to access most ASD-specific interventions. This can be especially burdensome for families who do not live near specialists or cannot take the necessary time from work or other activities.12-13

Access to ASD diagnosis and intervention is highly dependent on:

Race or ethnicity13

Socioeconomic status14

Geographic region13
Access to specialists15

Coverage from insurance providers

ASD Diagnostic Pathway

A shortage of specialists16-19 and time-intensive evaluations result in long wait times for diagnostic appointments,20 causing substantial delays in diagnosis. Evaluations are time-consuming, there may be a long screening process prior to scheduling appointments, in-person tests can take up to 3 hours, and multiple visits may be required.21-23 Currently, primary care physicians (PCPs) are typically the first to screen children for developmental delays and refer those with suspected delays to specialists for diagnosis and prescribed intervention10, including:

  • • Developmental and behavioral pediatricians
  • • Child psychologists
  • • Pediatric neurologists
  • • Child and adolescent psychiatrists
  • • Neuropsychologists

Additionally, social distancing guidelines and restrictions due to the COVID-19 pandemic have highlighted the need for remote assessment and management of children suspected to have ASD.24-25

Because the current diagnostic process can be so different for so many, barriers such as socioeconomics, geography, and demographics will need to be overcome. These barriers can limit patient and caregiver access to behavioral specialists and ASD-specific resources.13,24-26

  • African American children are

    19% less likely

    to receive an autism diagnosis than white children27

  • Non-white Hispanic children are

    65% less likely

    to receive an autism diagnosis than white children27

In one study, up to 25% of the children under 8 years old did not receive a diagnosis (the majority Black or Latino)28 .
A separate study found that, on average, autism was diagnosed in girls 11⁄2 years later than boys29.

Early diagnosis can enable appropriate interventions and developmental support to help more children be the best at being themselves.

Early Signs and Symptoms30

Autism spectrum disorder (ASD) is a neurodevelopmental condition that has a wide range of presentations and can manifest as multiple behavioral issues that cause functional impairment. Symptoms of ASD typically present in early childhood and include:

  • •   Reduced sharing of interests or emotions
  • •   Restricted and repetitive behavior
    • ○   Stereotyped or repetitive speech, motor movements, user of objects
    • ○   Excessive adherence to routines, rituals, resistance to change
    • ○   Highly restricted, fixated interests, abnormal in intensity or focus
    • ○   Hyper- or hypo-reactivity to sensory input or unusual sensory interest
    • ○   Repetitive behaviors (e.g., hand flapping, hand wringing, bruxism, etc.)
  • •    Challenges understanding social cues (e.g., eye contact, facial expressions)
  • •   Having significant need for predictable routine

1 in 44 prevalence of ASD in US children aged 8 years or under7

How AI Technology Can Help

Improvements in autism assessment tools may help improve access to treatment while reducing disparities in autism diagnosis. Emerging technological approaches hold promise to enable earlier identification and diagnosis of ASD.31-33 These technologies include:
  • • Computer vision32
  • • Biometrics and biomarkers33-35
  • • Advanced imaging36
  • • Artificial intelligence (AI)31

AI uses pattern recognition to uncover clinically meaningful relationships that exist between signs, symptoms, and behaviors.37

Machine learning, a form of AI, is a system which uses input data to generate informed predictions. Within the field of medical diagnostics, AI has been implemented to create programs that assist in several specialties (eg, radiology, pathology, ophthalmology, cardiology).37-38

Radiology

Radiology

Pathology

Pathology

Ophthalmology

Ophthalmology

Cardiology

Cardiology

Next Steps After Diagnosis

Early intervention within the neurodevelopmental window can yield significant improvements in behavioral, social, emotional, and cognitive functioning among individuals living with ASD.1-4

Early ASD intervention, particularly before the age of 4, can positively impact the development of a child with ASD. With early intervention, children can benefit from twice the cognitive developmental gains and a significantly higher IQ than children who do not receive the same level of intervention.2-3

Next Steps After Diagnosis Next Steps After Diagnosis Next Steps After Diagnosis

Children with ASD who received early ASD-specific intervention services required less behavioral, speech, physical, occupational therapy, and other services post-intervention compared with children who received usual community care, which suggests that early intervention reduces long-term costs associated with lifelong interventions and support.39

Currently, primary care physicians are the first to screen children for developmental delays and refer those with suspected delays to specialists for diagnosis and prescribed intervention.10 Talk with your doctor for more information.

Stay Informed

We’ll be adding additional articles and content on these topics.

© Cognoa 2022

References:

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3. Strain, P. S. & Bovey, E. H. Randomized, controlled trial of the LEAP model of early intervention for young children with autism spectrum disorders. Top. Early Child. Spec. Educ. 31, 133–154 (2011).
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