October 2020, Volume XXXIV, Number 7
Autism Spectrum Disorder
Advances in diagnosis and treatment
arenthood is a time of great anxiety, with parents wondering and worrying if their children are healthy, if they are getting adequate nutrition and sleep, and if they are being provided with an environment that is appropriately stimulating. For some parents, their child’s behavior or development raises additional concerns: “My infant doesn’t make eye contact.” “My son only repeats what he hears.” “My four-year-old licks and smells everything he picks up.” “My toddler spins constantly and walks on her toes.” “My preschooler is shy.” Internet searches can deepen concerns, given the wealth of information and misinformation available. “Could my child have autism?” “Does my child need more evaluation?” “What will a diagnosis or ‘label’ mean for my child’s future?” Parental worries about development are often compounded by awareness of the statistical increase in the prevalence of autism or autism-related disorders since researchers first began tracking them in 2000.
Significant changes were made to the diagnostic criteria for Autism Spectrum Disorder (ASD) when the American Psychiatric Association (APA) published the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, in 2013 (DSM-V). The DSM-V defines Autism Spectrum Disorder as “persistent deficits in social communication and social interaction” along with repetitive behaviors and restricted interests that cause impairment in multiple environments. Individuals previously diagnosed with Asperger’s Syndrome and Pervasive Developmental Disorder now typically meet criteria for Autism Spectrum Disorder.
Prevalence in 2016
The U.S. Centers for Disease Control (CDC) launched the Autism Developmental Disability Monitoring Network (ADDM) in 2000, and the Early ADDM Network in 2010. The ADDM reported an autism prevalence rate of 1:150 children in 2000, with an increase to 1:54 from the most recent data in 2016. There are several different thoughts on the increased prevalence of ASD in the United States: enhanced awareness, increased rate of screenings and evaluations, improved accessibility to early intervention and other services, changes in the diagnostic criteria in 2013, diagnostic clarity or diagnostic substitution in children previously diagnosed with intellectual disability, or a true increase in the incidence of the disorder.
Screening and surveillance for Autism Spectrum Disorders in the primary care setting is critical.
The Neurobiology of ASD
Our current understanding of the pathophysiology of ASD suggests that genetic, biologic, and environmental factors may all play a role. Early studies looking at family history showed that families with one child with ASD have an increased risk of having another child with ASD. Per the National Institute of Health (NIH), identical twin studies have shown that one twin has a 36-95% chance of having ASD if their twin is affected. ASD is associated with certain genetic diseases, including Fragile X and Tuberous Sclerosis Complex. Research has identified many genes involved with the development of autism, likely converging in specific biological pathways associated with changes in structural brain development and synaptic function. Many researchers are studying biomarkers that may allow clinicians to diagnose ASD earlier and to act as potential targets for therapeutic intervention. While environmental factors have been implicated in the pathogenesis of ASD, no specific environmental factors have been identified to date.
Advancing the Diagnosis of ASD
According to ADDM, the median age for formal ASD diagnosis ranged from 5.2 to 5.7 years of age. The American Academy of Pediatrics (AAP) suggests that ASD can reliably be diagnosed in children as young as 18 months of age. There are opportunities to bring down the median age of diagnosis, which will allow for earlier intervention. To achieve this, screening and surveillance for Autism Spectrum Disorders in the primary care setting is critical. A mission for universal screening has been set by the CDC and AAP. Screening determines at-risk children who should be referred for more formal evaluation. The AAP Clinical Guidelines recommend that all children are assessed using a validated screening tool at 18 and 24 months of age.
There are numerous screening measures in use and in development. General developmental screening measures are known to miss the social aspects of ASD; thus, it is recommended that primary care providers use an ASD-specific screener. The most studied screening measure is the M-CHAT-R/F (Modified Checklist for Autism in Toddlers, Revised, with Follow-Up, 2018), which is available online (https://mchatscreen.com/wp-content/uploads/2015/09/M-CHAT-R_F_Rev_Aug2018.pdf).
As stated in the AAP Clinical Guidelines, “the primary care provider has critical access to the child in the context of the medical home to identify symptoms of ASD early in childhood, support the family through the process of diagnosis and intervention, address etiologic evaluations, help the family understand how to interpret the evidence supporting different interventions so they can effectively engage in shared decision-making, and manage co-occurring medical conditions that may influence outcome and affect daily function.”
Addressing Barriers to Early Diagnosis
There are multiple barriers to early ASD diagnosis in children that have been identified. One of these barriers includes racial and ethnic differences. The ADDM reports note that more white children are diagnosed with ASD than Black or Hispanic children, despite the incidence of the disease being similar among groups. Stigma, lack of access to healthcare, non-citizenship or low-income status, and lack of English as a primary language have all been implicated as potential barriers to diagnosis in non-white children through studies. Female gender has also been identified as a risk factor for diagnostic delay. The incidence of ASD is 4-5 times higher in males than females. Several studies have examined the varied presentation of symptoms in males versus females and have suggested that girls may exhibit less of the repetitive or restrictive behaviors that are often an early clue to diagnosis. The delay in diagnosis in females has led to a higher incidence of anxiety and depression in the adolescent years, as the social differences may become more apparent.
One of the primary barriers to early diagnosis is the lack of access to clinicians trained in diagnosing ASD. Access limitation leads to long wait times and wait lists that delay diagnosis and prolong the time to intervention. If a child is identified as being at-risk by screening, there are steps the primary care physician can take while awaiting formal evaluation:
Follow up with parents to encourage follow-through with diagnostic assessment.
Research published in Pediatrics in 2015 suggests that more than 50% of children referred for a formal diagnostic assessment by their primary care provider do not follow through on the referral process. While there may be multiple reasons for this, the authors of the study noted several anecdotal possibilities from parents: lack of awareness regarding the importance of timely diagnosis and intervention; lack of understanding about what the process involves or what steps the parent needs to take; denial or difficulty accepting something may be wrong; and concern about having the child “labeled.” Primary care providers can lessen the chance of missed or late diagnosis by directly referring the child for the evaluation, ensuring the parents understand why the child is being referred, emphasizing the importance of early diagnosis and intervention, and following up with the family.
Follow up with parents to encourage follow-throughwith diagnostic assessment.
Approaches to Treating Autism Spectrum Disorders
Once diagnosed, young children with autism and their caregivers often find the myriad options for treatment a complex web to navigate, especially given the need for highly individualized, tailored approaches to the disorder. As Dr. Stephen Shore, professor and autism self-advocate, stated, “If you’ve met one person with autism, you’ve met one person with autism.” Likewise, there is likely not one singular treatment that will be effective for every individual on the Autism Spectrum. In addition to considering different treatment intervention options, providers also need to consider disparities in access to diagnostic and intervention services, particularly among underserved communities, such as cultural and linguistic differences, financial and health insurance barriers, and comorbid diagnoses (70% of children with ASD have at least one co-occurring condition and 40% have two or more).
Following are the three primary approaches in the treatment of ASD:
An awareness of the value of intervening as soon as possible is leading to important advances in early diagnosis. Through screening measures, physicians can play a vital role in helping parents understand the markers that might indicate a diagnosis of ADS and provide diagnostic and treatment resources to the family. There have also been important advances in therapeutic treatment options that allow providers to create more effective and individualized programs. The sooner we are able to identify where a child may be on the Spectrum, and the sooner we are able to begin treatment, the more able that child will be to live to the fullest potential.
Biographical Information on Co-Authors
Rachel Bies, MD, FAAP, is the current medical director for St David’s Center for Child and Family Development. Dr. Bies graduated from the University of Minnesota Medical School in 2005 and completed residency and chief-residency at the University of Minnesota in 2009. She is board certified in Pediatrics and is a current Fellow in the American Academy of Pediatrics. Dr. Bies has been a partner at Wayzata Children’s Clinic since 2009 and medical director of the clinic since 2011.
Angela M. Heitzman, PsyD, LP, Certified Rehabilitation Counselor is a Clinical Psychologist at St. David’s Center, focusing on evaluation, diagnosis, and intervention planning with children ages 18 months to 18 years of age for a variety of concerns, including autism. Dr. Heitzman also sees children, families, and adults for psychotherapy.
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Vanessa Slivken, MA, LMFT, Senior Director of Autism Services, oversees the Autism Day Treatment and Autism Spectrum Disorder Support Services (ASDSS) programs at St. David’s Center. With more than fifteen years of professional experience in the behavioral health field, she has been leading autism services at St. David’s Center for several years.