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Primary care of children with autism spectrum disorders

Developing confident healthcare leaders

Kilmer, Michele DNP, APRN, CPNP-PC

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doi: 10.1097/01.NPR.0000660352.52766.72
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J.J. is a pleasant 2-year-old boy presenting to the primary care clinic for his well-child evaluation. His immunizations are up-to-date, and he has not experienced any significant illness since his 18-month visit. His mother proudly states that J.J. began speaking his first words around 6 to 7 months of age and continues to experience advanced language skills for his age. J.J. also exhibits advanced drawing abilities compared with his peers. His mother reports that J.J. has limited interests and seems to be focused on one specific children's cartoon, which he must watch daily to prevent anxiety. She also notices that J.J. prefers to play alone rather than play with others. J.J. is hyperfocused on whales and loves to talk about them in most of his conversations. His mother is concerned that J.J. may have some hearing loss because he does not acknowledge her requests or comments, or he inappropriately responds to them. His mother also states that he is a shy child who averts his eyes when someone is speaking to him.

Pediatric autism spectrum disorder (ASD) is currently at its highest documented prevalence rate with 2018 data indicating that 1 in 59 children ages 3 through 17 years has been diagnosed with ASD.1,2 The increase in ASD incidence in the US within the past few years is concerning, and although evidence-based interventions and treatment initiated by 3 years of age gives individuals with ASD the best possible outcomes, analysis of current practices in pediatric ASD management reveals these patients are not receiving appropriate and timely care in primary care settings.2

Primary care providers (PCPs) play a vital role in the treatment of pediatric patients with ASD. The first step in increasing access to evidence-based care for this patient population is for PCPs to identify themselves as the leader of the patient's healthcare team. PCPs should examine their current knowledge and beliefs about their individual responsibility of managing the care of pediatric patients with ASD, reevaluate their current practice, and make changes to improve health outcomes for these patients.

This first article in a three-part series provides a foundation for understanding the prevalence of pediatric autism and presents obstacles and consequences inherent in current practices. Poor health outcomes resulting from delays in evidence-based care are examined, and the financial impact of autism on families, communities, and state and national government budgets is addressed.

Growing prevalence

ASD can be reliably diagnosed as early as age 2 years.3 Without question, early intervention provides the best opportunity for optimal outcomes for these children.4,5 However, it is well documented that pediatric patients with a diagnosis of ASD, regardless of their intellectual abilities, do not receive evidence-based care in a timely manner, resulting in poor health outcomes and placing them among the fastest growing vulnerable groups in industrialized nations.2,6,7

The Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network gives estimates for ASD prevalence among 8-year-old children who reside in one of 11 participating states. A 15% increase in ASD prevalence was noted in 2016 when compared with the previous survey completed in 2012.1,2 Data collected over the past 10 years show little improvement in the age of diagnosis; many children with ASD are diagnosed at approximately 4.5 years of age.6,7 (See ASD prevalence from 2000 to 2014.)

Differences in assessment procedures could account for the increase in ASD prevalence. Examples of these differences include the variation in questions asked in the National Health Interview Survey between 2009 and 2017 as well as the expanded definition of autism to include autism, Asperger disorder, pervasive developmental disorder, and autism spectrum disorder.8,9 It is speculated that these changes account for the increased prevalence in the 2014 survey.9

Some postulate the increase in ASD prevalence is related to change in provider practice and increased understanding of ASD in general.7,10 Although this may be true, many sources note that children with ASD are not being identified and are not receiving evidence-based care prior to age 48 months, despite this increased awareness.2,7


ASD is reported among all racial, ethnic, and socioeconomic groups.11 However, cultural beliefs, parental expectations, and provider practice can influence behavioral evaluations of children, leading to delay in ASD diagnosis.12 White children are more likely to be diagnosed with ASD than Black or Hispanic children.2,8 This could be because of increased availability of resources for families with a higher socioeconomic status.12 Other factors influencing the delay in diagnosis among minority populations include parental misinterpretation of core ASD symptoms, perceived stigma of an ASD diagnosis, mistrust of the healthcare system, and less opportunity to participate in preventive healthcare services.12

Following the 2012 survey, the ADDM Network specifically focused on efforts to improve diagnosis rates among Black and Hispanic children by increasing awareness of the disparity among healthcare providers.2 The 2014 survey shows the diagnostic gap was narrowed between White, Black, and Hispanic children; however, Hispanic children remain at a greater risk for not being identified with ASD.2

Data obtained from the 2009-2017 National Health Interview Survey show that girls are less likely than boys to be diagnosed with general neurodevelopmental disorders such as attention-deficit hyperactivity disorder, ASD, cerebral palsy, learning disability, and intellectual disability.8 The 2014 ADDM survey report revealed that boys were four times more likely to be diagnosed with ASD than girls. The male:female prevalence ratio had only slightly improved from 4.5:1 in 2012.2 Due to this disparity, girls with ASD experience greater vulnerability, because they are typically diagnosed later and receive fewer health services than their male counterparts.

Mortality. Mortality among patients with ASD is twice as high as the general population, possibly due to risky behavior, intellectual disability, and cellular disorganization as seen in epilepsy. The mortality of female patients with ASD is higher than their male counterparts.13-15 The mean age of death for people with ASD is 36 years compared with 72 years in the neurotypical population according to the National Vital Statistics Survey in the US that was conducted in 1999-2014.16 Patients with ASD have a higher risk of in-hospital mortality, affecting females more than males.17

ASD prevalence from 2000 to 201444

Level of intellectual disability may affect mortality, while comorbid conditions such as seizure disorders are linked to increased mortality among patients with ASD.15,16 Seizure disorder accounted for 52% of deaths among individuals with ASD in a recent study conducted in Utah.15 A study conducted in California also found an increase in seizure disorder among patients with ASD and an increase in mortality associated with ASD when the comorbidity of epilepsy was present.18 Girls with ASD are at a higher risk for epilepsy than boys.19 The cause for the increased mortality continues to be investigated; however, evidence of cellular disorganization leading to changes indicative of neurodevelopmental disturbances has been discovered in brain tissue of donors with both ASD and epilepsy.20 These changes could account for the increased mortality. Also, sudden unexplained death in epilepsy, known as SUDEP, a phenomenon associated with premature death, affects all people with epilepsy, even without the presence of ASD.18

Core ASD symptoms such as behavioral and language impairments along with a decreased awareness in their environment may also be responsible for the increase in mortality.16 Unintentional risky behavior, such as wandering, has been identified as a factor that places children with ASD at a greater risk for injury mortality.21 Evaluation of wandering and elopement cases in 2009-2011 shows that girls with ASD are twice as likely to experience a fatal outcome associated with wandering or elopement.21 Wandering and elopement are correlated with increased accidental drowning incidents. Accidental drowning is the number-one cause of premature death in children with ASD.22 In many cases, accidental drowning is precipitated by wandering and occurs in open areas with unsupervised bodies of water such as ponds, rivers, and lakes.23

ASD symptoms vary in severity; however, concerns are often apparent before the age of 3 years.24 The Diagnostic and Statistical Manual of Mental Disorders, 5th edition, identifies key criteria for an ASD diagnosis:25

  • Continued challenges with social communication and social interaction in various contexts
  • Restrictive, repetitive patterns of behaviors, interests, or activities
  • Symptoms are present in early childhood
  • Symptoms cause significant impairment in social, occupation, or other areas of functioning
  • Disturbances cannot be attributed to intellectual disability or global developmental delay.

Although ASD is a cluster of neurodevelopmental disorders, it is known to affect other body systems.26 Sleep disorders, gastrointestinal concerns, food allergies, psychiatric comorbidity, and seizures frequently occur in patients with ASD. Also, delays in gross and fine motor skills along with language disorders commonly exist. (See Signs and symptoms of ASD.)

Financial impact of ASD

Early intervention is essential to reduce the long-term financial burden associated with ASD.27 Lavelle and colleagues estimate that caring for pediatric patients with ASD costs at least $17,000 more per year than caring for a child without ASD.28 Nationally, this equates to over $11.5 billion yearly, with some estimates as high as $60.9 billion.28 Medical expenses are 4.1 to 6.2 times greater than caring for children who do not have ASD.29 Financial burden includes costs related to healthcare, education, ASD-related therapy, family-coordinated services, and professional caregiver assistance.30 The yearly cost for behavioral therapy is estimated between $40,000 and $60,000.29 The estimated cost to the US for ASD care in 2015 was $268 billion, with projected costs rising to $461 billion by 2025 if ASD's prevalence remains stable.31 Healthy People 2020 calls for an increase in the proportion of children with ASD who are enrolled in special services such as physical, speech, developmental and occupational therapy by age 48 months.32 There is concern about future funding of these services because the Medicaid program, which is the single largest healthcare payer for people with ASD, has experienced budget cuts for allied health therapy.33

ASD unquestionably impacts state and national spending, but it is also a significant burden to individual families. There is an association between low socioeconomic status and prevalence of severe intellectual disability, as higher prevalence of ASD with intellectual disability is found in families with unemployed adults, people with no diploma, immigrants, and single-parent families.34 Families living in rural areas have a greater additional cost per capita for medical treatment of pediatric ASD than those living in urban areas.35 The presence of comorbid conditions also affects family finances. The average expenditures can be twice as high in children with ASD who have one or more comorbidities.36 Behavioral therapies comprise the largest expense to families.37 A recent study by Cidav and colleagues reported that overall earnings in families with children with ASD are 28% less compared with families whose children do not have health limitations, and 21% less compared with families with children with other health limitations. The authors found that if the mother of a child with ASD is employed, she will typically work about 7 fewer hours per week and earn 56% less than mothers of children with no major health issues, or she will stop working altogether to care for the child. No statistical difference was found in work labor participation, weekly work hours, and yearly earnings among fathers who have a child with ASD, a child with a health limitation, or a child with no health limitation.27 These findings are corroborated by results detailed in a systematic review conducted in 2019. Liao and Li found that mothers were more likely to leave employment in order to care for their child with ASD, were confronted with workplace challenges including limited employment opportunities, and experienced difficulty obtaining childcare, all of which affected their ability to work outside the home.37

Financial constraints continue as children with ASD transition into adulthood. Over 500,000 individuals with ASD will enter adulthood in the next 10 years, requiring accommodations for appropriate housing and residential support to foster independence.38 Thirty-five percent of young adults with ASD ages 19 to 23 years have not held a job or received postgraduate education after leaving high school.39 Of those who are employed, most work low-paying jobs and less than 30 hours weekly.40

Clinical practice barriers

Patients like J.J. are usually not identified as being at risk for ASD.8 J.J. is a bright young toddler with advanced verbal skills, making his manner endearing to adults. However, even children with ASD who have language impairment experience delays in diagnosis. Children with more pronounced developmental delays are also not being accurately screened during well-child evaluations and subsequently experience a delay in receiving a diagnosis.8

Limited use of evidence-based screening and treatment practices has been identified as a critical concern in the care of pediatric patients with ASD.1 In general, time constraints, massive amounts of healthcare literature, and a nonsupportive organizational structure are known barriers to implementing evidence-based practices in primary care clinics.41,42 In addition to these common hindrances, inadequate developmental screening evaluations during well-child exams lead to delay in diagnosis. Last, there is documented concern of prolonged waiting periods between identification of at-risk patients, referral for developmental assessment, and evaluation resulting in diagnosis.2,7,13

Current practice guidelines and numerous healthcare organizations stress the importance of performing developmental screenings on all children during each well-child evaluation.2,7,13,43,44 This includes specific developmental screening for ASD for preschool children. Data collected in 2007 showed that only 22.6% of children ages 10 to 35 months were screened for ASD, and unfortunately, in many areas of the country, these rates have not improved in the past 10 years.7,13,45 This concern is supported by the 2014 ADDM survey findings among the 11 participating states. The survey noted that study centers that chose smaller geographical areas close to diagnostic centers and school districts had increased resources to identify at-risk children, which might have yielded a higher prevalence rate. Differences in diagnostic practices as well as regional and socioeconomic limitations to services may account for low performance in some of the 11 participating states.2

Providers' personal experiences and insights lead to variations in care management of pediatric patients with ASD.46 At times, patients are not referred for evaluation of developmental delay, even though symptoms of ASD are present. This practice may explain the 2014 ADDM survey finding that approximately 85% of children with ASD had developmental concerns documented in their medical chart by age 3 years; however, most of the children were not officially diagnosed until age 4 years and 4 months.2

Signs and symptoms of ASD

Adding to the complication of the management of pediatric patients with ASD is similar symptomology to other conditions. This often leads to inaccurate diagnoses of other conditions. For example, ADHD and sensory processing disorder are commonly confused with a diagnosis of ASD. Children with both ADHD and ASD are most likely to be diagnosed with ADHD first and are about 30 times more likely to be diagnosed with ASD after age 6 years.47

Children with ASD have improved health outcomes when they receive evidence-based interventions before age 5 years due to pronounced neuroplasticity, which is the lifelong ability of the brain to reorganize neural pathways. Neuroplasticity is dependent on life experiences, therefore therapy can be targeted to address specific behavioral concerns in ASD.5 Improvements in one area of development may positively affect other areas, a phenomenon known as developmental cascades.48 An example of this is the progressive effect of fine motor skill development on expressive language disorder.49 It was noted that as fine motor skills improve, the infant has more opportunities to interact with others, thus augmenting language skills.49 Conversely, delays in motor skill development negatively affect socializing and limit the opportunities for interactive communication, which may negatively impact a child's self-esteem.50 Early interventions that positively affect social interactions are essential, as a potential correlation exists between impairments in social reciprocity and premature death in patients with ASD.51 Early evidence-based interventions, such as occupational, physical, and speech therapies, give pediatric patients with ASD the best opportunity to succeed with the talents they possess. An estimated 46% of individuals with ASD have average or above-average intelligence.52 Individuals with ASD can be strong visual and auditory learners, can learn things in detail, can remember the learned information for a prolonged time, and can excel in math, science, music, or art.44


PCPs can improve outcomes for patients with ASD by embracing their leadership role in the care management of pediatric patients with ASD. PCPs have the exciting opportunity to influence changing the trajectory of ASD in the US. Although all healthcare leaders have an obligation to respond to the steadily increasing prevalence of pediatric ASD, the responsibility to manage their complex care falls on PCPs. As frontline providers, PCPs must routinely administer developmental screenings, order and interpret diagnostic tests, oversee complications and comorbid conditions, and make referrals. Specialty providers can assist in providing recommendations and create plans of care for specific concerns; however, it is critical that PCPs take a leading role in the patient's plan of care. Early diagnosis and intervention can drastically improve health outcomes, reduce burdens felt by families, and significantly alleviate the financial impact on local, state, and federal governments. (See Key concepts.)

The next article in the pediatric ASD series details evidence-based recommendations for primary care practice and will discuss screening tools and initial interventions that should routinely occur in primary care clinics for at-risk patients. Strategies to successfully implement these recommendations into practice will be explored.

Key concepts

  • PCPs have an important role in changing the trajectory of pediatric ASD management.
  • Pediatric patients with ASD are not receiving evidence-based interventions in primary care clinics in a timely manner.
  • Caring for a child with ASD is associated with financial strain to the family as well as state and national budgets.


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attention-deficit hyperactivity disorder (ADHD); developmental cascades; early intervention; epilepsy; evidence-based care; health outcomes; pediatric autism spectrum disorder (ASD); primary care provider (PCP)

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