THE IMPORTANCE OF EARLY DIAGNOSIS OF AUTISM SPECTRUM DISORDER

By Zachary Ginder, PsyD, MSW

J.D. AND HIS PARENTS ARRIVED AT THEIR NEW PEDIATRICIAN’S OFFICE FOR THEIR FIRST VISIT SINCE MOVING ACROSS THE COUNTRY THREE YEARS AGO. THEY HAVE STRUGGLED TO FIND RESOURCES SINCE MOVING AND HAVEN’T BEEN CONNECTED WITH HEALTHCARE FOR A NUMBER OF YEARS. THEY DECIDED TO SCHEDULE AN APPOINTMENT WITH A PEDIATRICIAN AFTER NOTICING J.D.’S SPEECH AND COMMUNICATION ABILITIES WERE NOT AT THE SAME LEVEL AS OTHER CHILDREN HE HAD BEEN PLAYING WITH IN THE NEIGHBORHOOD.

His behavior had also become more noticeable since the pandemic. J.D. was their first child, and although very attentive and caring, their knowledge of child developmental milestones was admittedly lacking. During the pediatrician visit, a developmental screening tool was used to identify possible areas of developmental concern. After the visit, a referral for a specialized comprehensive evaluation was placed to help J.D., and his parents receive the answers and assistance they need to support him in thriving as he transitions into school-based learning the following year.

While the above scenario is fictional, it describes an alltoo-common situation that does not always end with such optimal outcomes. According to the Centers for Disease Control—Autism and Developmental Disabilities Monitoring Network (ADDM), diagnostic rates for autism spectrum

disorder (ASD) continue to increase within the United States (Maenner et al., 2020), yet there are scores of children and young adults who go undiagnosed each year.

There are a myriad of reasons why early detection, diagnosis, and intervention services may be delayed for children who eventually are diagnosed with ASD. These reasons can range from a previous diagnosis of another condition or disorder that masks the actual underlying issue, such as attention-deficit/hyperactivity disorder in relation to ASD (Kentrou et al., 2019), gender differences in the expression of “typical” autistic symptoms and the potential camouflaging of symptoms (Bargiela et al., 2016), caregiver hesitancy to seek help, and physician hesitancy to diagnose (Locke et al., 2020), among many others.

Naturally, parents and primary caregivers are often the first to identify developmental or behavioral concerns in their child; however, research suggests that unless there are pronounced concerns in language, communication, sensory-motor functioning, sensory seeking, or challenging behaviors, primary care physicians may take a “wait and see” approach to evaluation when parents initially express concern. This approach is not always without merit, as each child’s developmental trajectory unfolds specific to the child, meaning no two children will hit all developmental milestones at the same time (Locke et al., 2020).

First-time parents may also not be familiar with what functions their child should typically be able to perform by certain stages in their life. Additionally, caregivers may have limited access to healthcare services or be less trusting of Western medicine. The latter is particularly relevant for Latinx (Zuckerman et al., 2014) and African American families (Burkett et al., 2015), where limited access and historic distrust in healthcare have been found to result in delayed diagnosis and treatment services. Alternately, general pediatricians may have inadequate knowledge of how to assess for ASD and may, in turn, disregard initial concerns from parents (Locke et al., 2020).

Despite these barriers, one in 54 children are diagnosed with ASD by the age of eight within the United States. The diagnostic prevalence is relatively consistent across most racial and ethnic groups, and approximately one-third of all children diagnosed have a co-occurring intellectual disability. The median age of first diagnosis for those participating in the Centers for Disease Control—ADDM network was 4.25 years old (Maenner et al., 2020), although it should be noted research suggests ethnic minority groups are typically diagnosed later (Tromans et al., 2020) and often receive an alternate diagnosis, such as adjustment or conduct disorder, prior to receiving the most appropriate diagnosis of ASD (Mandell et al., 2007). This speaks to the broader health disparities and inequity present in healthcare for certain populations. The importance of early diagnosis and intervention services cannot be understated and is often vital in maximizing the lifelong functional outlook for autistic children. This process generally starts with a developmental observation and screening tool, such as the Modified Checklist for Autism in Toddlers (M-CHAT), the Ages and Stages Questionnaire (ASQ-3), or other standardized developmental screening conducted by a pediatrician or health professional at a well-child visit or annual appointment. Parents are encouraged to vocalize their concerns and be open regarding their child’s current abilities. Moreover, parents who have a family history of autism or other developmental concerns are encouraged to speak with their child’s pediatrician to schedule more frequent visits for their child (Zwaigenbaum et al., 2019).

If the pediatrician has concerns for autism, the next step is often a referral to a specialist group for a comprehensive evaluation. Unfortunately, not all comprehensive evaluations are equal. The American Academy of Neurology recommends a holistic view of the child that includes an

evaluation of medical and neurological, cognitive, behavioral, speech and language, and sensorimotor and occupational components of each child (Filipek et al., 2000). This gold standard in comprehensive evaluation provides the opportunity to identify underlying factors that in a less comprehensive evaluation may be overlooked and lead to misdiagnosis. After the evaluation process, diagnoses and referrals are typically made by the evaluating clinical team. As is the case with most health-related concerns, diagnosis informs the treatment.

Accessing treatment as early as possible is essential for bolstering child resiliency and may support inclusion later in life. While a lot can also be done to support late-diagnosed children and young adults, early detection and treatment provides an opportunity to take advantage of early life flexibility in the development of brain connections, known as neural pathways, to adjust and learn new ways of organizing thinking and interacting with the world. This flexibility is commonly known as neuroplasticity. Because the brain develops rapidly and significantly in early life, treatment interventions during this window of opportunity are referred to as critical periods for plasticity (Voss et al., 2017). Research suggests that a specific type of intervention, known as experience-dependent interventions, can be associated with positive outcomes in increasing neuroplasticity in both neurotypical and neurodivergent groups, especially when focused on cognitive, behavioral, and sensory-motor abilities (Weyandt et al., 2020). These types of interventions can take the form of speech therapy, occupational therapy, and applied behavior analysis (ABA), among others.

If the opportunity for improved skills in communication, motor function, cognition, behavior, and parental relationships were not reason enough to push for early evaluation (Jagan & Sathiyaseelan, 2016), researchers Berger, Rohn, and Oxford (2013) suggest there may be a shortened window for neuroplasticity and development for children with ASD. This finding underscores the critical nature of early and accurate diagnosis that leads to appropriate treatment interventions that take advantage of early life neuroplasticity for the betterment of each child.

Early treatment can also improve sensory tolerance, communication, functional skills, and motor skills, which, in turn, connect with overall improved life function. In short, we must all do our part to bring greater awareness to the importance of early detection and treatment to help each child reach their full potential.

References

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Berger, J. M., Rohn, T. T., & Oxford, J. T. (2013). Autism as the early closure of a neuroplastic critical period normally seen in adolescence. Biological Systems, Open Access, 1.

Burkett, K., Morris, E., Manning-Courtney, P., Anthony, J., & Shambley-Ebron, D. (2015). African American families on autism diagnosis and treatment: The influence of culture. Journal of Autism and Developmental Disorders, 45(10), 3244-3254.

Filipek, P. A., Accardo, P. J., Ashwal, S., Baranek, G. T., Cook, E. H., Dawson, G., ... & Volkmar, F. R. (2000). Practice parameter: Screening and diagnosis of autism: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology, 55(4), 468-479.

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Maenner, M. J., Shaw, K. A., & Baio, J. (2020). Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveillance Summaries, 69(4), 1.

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Tromans, S., Chester, V., Gemegah, E., Roberts, K., Morgan, Z., Yao, G. L., & Brugha, T. (2020). Autism identification across ethnic groups: a narrative review. Advances in Autism.

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Zuckerman, K. E., Sinche, B., Mejia, A., Cobian, M., Becker, T., & Nicolaidis, C. (2014). Latino parents’ perspectives on barriers to autism diagnosis. Academic pediatrics, 14(3), 301-308.

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Zachary Ginder, PsyD, MSW, has a lifelong passion for service to others that includes education, advocacy, and direct practice. He has had the honor of supporting and working with differently-abled populations throughout his career, as well as work within the education sector, early learning, youth, families experiencing homelessness, and families living with HIV/AIDS. Dr. Ginder is the Executive Director of the Inland Empire Autism Assessment Center of Excellence, a transdisciplinary group practice that provides the gold standard of comprehensive diagnostic evaluations for children and young adult populations.