Building a medical home for children with autism

Susan E. Levy, MD, MPH

Susan L. Hyman, MD

Table 1

Table 2

Table 3

Table 4

Table 6

In 2007, the American Academy of Pediatrics (AAP) published a clinical report on autism spectrum disorder (ASD) providing pediatricians with information on the identification/evaluation and management of children with this disorder based on the available evidence.^1,2 The report highlighted the important role pediatricians play in identifying and caring for these children.

Since that report, the reported prevalence of ASD has grown substantially.^3-5 In 2007, the Centers for Disease Control and Prevention (CDC) estimated that 1 in 150 children aged 8 years had an ASD diagnosis based on 2000-study-year data.³ In 2018, the prevalence was reported as 1 in 59 children aged 8 years based on 2014-study-year data.⁵ This shows an estimated prevalence increase to 1.69% in 2018, up from 0.67% in 2007.

As more evidence has accrued since the 2007 report, a deeper understanding of the needs of these children and how to better help them has evolved. One tangible sign of this deeper understanding is action taken to promote improved diagnosis and treatment as shown by the autism legislation that exists in most states supporting payment for diagnosis and treatment where no such legislation existed in 2007.⁶ As such, the AAP, the Council on Children with Disabilities, Subcommittee on Autism, and Section on Developmental and Behavioral Pediatrics are updating the clinical report to keep pediatricians current on the evolving understanding of ASD and its management.

Susan L. Hyman, MD, Golisano Children’s Hospital, Rochester, New York, and Susan E. Levy, MD, MPH, the Children’s Hospital of Philadelphia, Pennsylvania, members of the Autism Subcommittee of the Council on Children with Disabilities, provided a brief primer of current information about ASD in a session during the 2018 AAP National Conference and Exhibition (NCE) titled “Autism spectrum disorder and the medical home: Identification, diagnosis, and management.”⁷

As indicated by the title of the session, a key focus of their presentation was to emphasize the need to establish and maintain a medical home for these children once screening has confirmed a diagnosis of ASD to support children and families through the challenges of different stages of their lives.

“We know so much more about autism spectrum disorder than we did 10 years ago, so we hoped that this talk along with other supportive tools would help primary care pediatricians feel more comfortable taking care of kids with autism and more able to serve as a medical home for them,” says Levy.

She stresses, however, that pediatricians are not expected to be experts in all the specialty areas that may be required to help a child with ASD, but that they should be able to provide a medical home for the child and his/her family to turn to when they are not sure about where to get help.

“Even if pediatricians are not sure what to do, they can provide the big picture and help support families,” Levy says, and, importantly, “enter into shared decision-making with families to help arrive at a consensus about the best treatment and the one the family wants to pursue.”

This article summarizes key issues highlighted in the AAP NCE presentation, with a particular focus on management and the important role of pediatricians to provide a medical home to these children and their families to help them navigate the lifelong challenges of this disorder. Emphasized is the importance of identifying and managing co-occurring conditions that often accompany ASD and contribute to the complexity of ASD, which supports the need for a medical home for these children and their families.

Screening and diagnosis

In their presentation, Hyman and Levy first spoke on key issues in screening and diagnosis that ensure ASD is correctly identified. One clear change since the AAP clinical report in 2007 is the change in how autism is categorized in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). With the changes in the DSM-5 published in 2013, ASD now is a single category that covers and replaces the subtypes of autistic disorder, Asperger syndrome, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) in the DSM-IV-TR.⁸

Identification through screening remains key in identifying ASD early and ensuring the child receives the best care possible. Data show that intervention provided in children aged younger than 3 years has a greater impact than intervention provided in children aged older than 5 years.⁹ In recognition of the importance of early detection, the AAP published guidance for early screening that recommends general developmental screening at ages 9, 12, and 30 months and autism-specific screening at 18 to 24 months with ongoing developmental surveillance through school age.¹⁰

Although other groups, notably the US Preventive Services Task Force (USPSTF), could not recommend for or against early screening based on the current literature, the USPSTF does urge clinicians to use clinical judgement and to use validated tools to assess if symptoms and signs in a child warrant further diagnosis or services.¹¹ Table 1 lists standardized screening tools along with several promising tools under study.⁷ One key change in screening since 2014, according to Levy, is that most pediatricians across the United States responding to practice surveys now screen for autism whereas only a few practices did so in 2004.¹²

Screening results suggestive of a diagnosis of ASD require further diagnostic workup to confirm a diagnosis of ASD, determine the severity (ie, overall level of functioning), and assess its etiology (Table 2).¹ Hyman and Levy emphasize that a child who is evaluated for ASD, regardless of age, should undergo an assessment of psychoeducational, adaptive, and language abilities (including pragmatic or social language) by a multidisciplinary team comprised of, for example, a psychologist and speech/language therapist and occupational therapist and/or other disciplines as indicated.

Further assessment may also be needed to identify co-occurring medical, psychiatric, and behavioral conditions that may affect the child’s function and quality of life. These assessments may include magnetic resonance imaging and electroencephalogram as indicated by history and physical, and referral to a developmental/behavioral pediatrician, neurologist, or psychologist/psychiatrist. Distinguishing autism from conditions that may present with similar symptoms is critical to ensure a correct diagnosis, as well as to identify co-occurring conditions for which treatment may be needed. An etiologic evaluation, including assessment of risk factors and genetic testing, should be offered to all families. Table 3 provides updated knowledge regarding known and putative risk factors.

Medical home: intervention and management

Once a child is screened and diagnosed with ASD, lifelong care in a medical home is essential to ensure that ongoing care is comprehensive, coordinated, family-centered, and can anticipate and address specific issues related to ASD. Hyman and Levy emphasize the importance of pediatricians feeling comfortable in helping patients and their families plan and coordinate care across health and life transitions.

To do this, pediatricians should be ready to manage multiple needs of their patients and families. The first is to educate patients and families on the importance of intervention across environments, including home and school. Data show that interventions that use principles of behavioral intervention are linked to skill acquisition and improved outcome, and interventions to help families reinforce developmental skill building in the ASD child are increasingly supported.^13,14 Data show that the most effective intervention is early and intense and involves family.¹⁵ Table 4 lists specific interventions pediatricians might discuss with patients and families.

Other interventions that are being used by children and their families and that pediatricians may be asked about include diet (eg, gluten-free casein-free) or dietary supplements (eg, multivitamins, omega-3 fatty acids, and vitamin D) and different types of therapy (eg, music, equine-assisted, hyperbaric oxygen, and stem-cell).^16-18

“The use of unproven therapies is common and the pediatrician should be comfortable entering into a dialogue with families about the importance of examining the claims made by practitioners providing nonstandard therapies and the risk for adverse effects,” says Levy, who adds that some interventions, such as chelation and bleach enemas, have such serious adverse effects that families must be counseled regarding their danger, whereas others, as the gluten-free casein-free diet, may be tried safely with appropriate nutritional guidance. “Data collection regarding target symptoms may help a family track the impact of unproven therapies in an individual child,” she says.

Pediatricians play an important role in helping guide patients and their families through these many intervention strategies, Hyman and Levy emphasize. This role, they say, has taken on even greater importance over the past decade given the amount of and accessibility to information on the Internet and social media that has outpaced changes in practice.

One primary way to help patients and families decide on which therapies may be appropriate for them is to engage in shared decision-making with caregivers and the patient to understand whether or not an intervention is supported by the research. Levy underscores that shared decision is a new process employed in autism in which the clinician and patients/families work together to select tests, treatments, management, and support packages, all based on clinical evidence and patient preferences.¹⁹

Along with helping patients and families choose which interventions may best address core symptoms of ASD, pediatricians are also well suited to help manage conditions that may co-occur with ASD, such as other developmental or psychiatric conditions (eg, attention-deficit/hyperactivity disorder [ADHD], affective disorders, cognitive abnormalities), behavioral issues (eg, sleep difficulties, feeding disorders, aggression/irritability/self-injury, wandering, pica), and medical conditions (eg, allergy, gastrointestinal [GI] symptoms/disorders, immune abnormalities, seizures, and tic disorders). Hyman and Levy highlighted several of these in their talk (Table 5).

Finally, an important component of establishing and providing a medical home for children with ASD is to help them and their families transition through the various phases of their life-from childhood to adulthood-to help them deal with the many issues in each phase including education, employment, and issues of sexuality.

Take-home message

“What we intended to do in this talk was to remind primary care providers of the pathway of ASD from screening to diagnosis to lifelong care that takes place in the medical home,” says Hyman.

The need for a medical home to manage this lifelong care of a child with ASD underscores the complexity and chronic nature of this condition. As such, Hyman and Levy suggest several changes that pediatricians may want to make in their practices to better meet the needs of these patients (Table 6).