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A Developmental and Behavioral Pediatrics Perspective on Autism Spectrum Disorder

In honor of Autism Awareness Month we are pleased to feature an article by our very own Drs. Anson Koshy and Daniel Williamson from the Neuroscience Research Center Newsletter, (volume 23, number 2, fall 2017). 

By Anson J. Koshy, M.D., M.B.E , and W. Daniel Williamson, M.D

Autism Spectrum Disorder (ASD) is a biologically based neurodevelopmental disorder with broad phenotypic variability. For families in need of immediate assistance, the diagnostic evaluation remains the cornerstone for accessing supports and care. Here, we provide an overview of the diagnosis and management of clinical care for children with ASD, based on recommendations of the American Academy of Pediatrics. Our aim is to promote increased awareness of ASD and the need for comprehensive, evidence-based clinical care.

The patience of even the most seasoned medical professional navigating the Texas Medical Center during morning rush hour can sometimes run dry. For families coming to a clinic at UTHealth’s Children’s Learning Institute (CLI), the chaotic traffic is no doubt the least stressful part of the search for an answer to their question, “Does my child have autism?” Clinicians working with this unique patient population must be mindful of the countless stressors affecting a family and their experience with the medical community. Our team at CLI, including developmental pediatricians, psychologists, a nurse practitioner, and a speech and language pathologist, focuses on providing family-centered and evidence-based assessments, recommendations, and guidance in a clear and compassionate manner.

The 2013 revision of the Diagnostic and Statistical Manual of Mental Disorders (5th Ed.; DSM-5; American Psychiatric Association) contains updated diagnostic guidelines for what was previously called pervasive developmental disorder (PDD). The broad category of PDD, which had included autistic disorder, Asperger’s syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS), was re-worked into a new and more unified nosological category called autism spectrum disorder (ASD). ASDs are defined as neurodevelopmental disorders associated with social-communication difficulties, alongside repetitive and stereotyped behaviors and/or interests, resulting in a functional impairment with symptoms noted in early childhood. Early diagnosis is critical to the initiation of interventions that can lead to a child’s optimal development. Families may vigorously resist the diagnosis. For example, during my [Dr. Koshy’s] fellowship training at The Children’s Hospital of Philadelphia, I encountered the powerful denial of one young patient’s father. He struggled so furiously with the news of his son having ASD that I and my team were quite concerned about his physical aggressiveness. Over time, however, as parents gain insight into their child’s abilities and impairments, they recognize the value of early identification. A photo of my smiling little patient in Philadelphia is tacked next to my desk today, a fond reminder not only of him but also of his dad, so angry at first and then grateful for the understanding a diagnosis can bring.

A definitive diagnosis is best made, according to the American Academy of Pediatrics (AAP), by a team of child specialists with expertise in ASD. At the UT Physician’s (UTP) Center for Autism and Related Conditions at CLI, either a developmental and behavioral pediatrician (whose training includes a three-year fellowship in the subspecialty, in addition to a regular pediatric residency) or a child psychologist, may work with a speech and language pathologist to provide dual assessments at the initial appointment. For children being assessed, a transition into an unfamiliar setting with new people may be quite challenging. Our parents commonly question whether their child will demonstrate the strengths they displayed at home when they are in the clinical setting and likely to be more anxious and easily frustrated. To create a relaxed environment, we start the visit with developmentally feasible, play-based tasks and allow time for a young child to acclimate to his surroundings. Clinicians get on the floor with children in play to help overcome initial fears.

Today’s growing list of ASD-specific diagnostic tools helps the clinician conduct a standardized assessment, as called for by the AAP. Measures including the Modified Checklist for Autism in Toddlers Revised take into account parent-reported observations and may be used at routine well-child visits. Screening tools should be combined with clinical history and observations from parents, teachers, and therapists the child knows, along with any neurodevelopmental test results. The combined information helps provide a comprehensive picture and also points to appropriate therapeutic interventions. Such organizations as the American Association of Family Practitioners support the AAP’s recommendation to standardize the ASD evaluation. However, compliance with published guidelines, is reported as variable (according to the Journal of Developmental and Behavioral Pediatrics). Inconsistencies in evaluations can raise questions regarding diagnostic accuracy and validity, potentially causing problems for families in obtaining insurance coverage.

Since the presenting concern for children with ASD is often a communication or language-based delay, clinicians need to monitor a child’s early language development in routine visits. At UTP’s Center for Autism and Related Conditions, a speech and language pathologist is a critical member of our team and completes a structured language assessment at the initial visit, if necessary. Some common red flags for ASD include lack of cooing by three months or babbling by 12 months, lack of single words by 12 months or two-word phrases by 24 months, any loss of words or of babbling, lack of pointing to objects to indicate awareness or a request, and trouble expressing needs and wants through typical words or gestures.

Neurodevelopmental disorders in young children often present with overlapping symptoms that must be teased apart to clearly identify, if applicable, a primary diagnosis, along with the most effective and appropriate services as supported by the research. A child with an isolated language delay, for example, may require support services different from those for a child who has a language delay with an accompanying cognitive delay. To differentiate an isolated language delay from a more pervasive social-communication and/or cognitive delay, we also assess A problem-solving abilities in our CLI autism clinics. Our neurodevelopmental testing allows the clinician to estimate a child’s current level of functioning (her developmental age). A comparison of the developmental age with the child’s chronological age helps delineate the severity of any developmental delays. Discrepancies between the developmental and chronological ages in each domain of development (cognitive, language, motor, adaptive, and social) should be identified, as any one of them may directly affect diagnostic impressions and treatment planning. Other disorders that may co-occur with ASD and confound its diagnosis are attention-deficit/hyperactivity disorder (ADHD), specific learning disorders, and anxiety, to name a few.

Although the association of ASD with known genetic disorders is less than 10 percent, ASDs are associated with a wide variety of neuro-genetic syndromes, including fragile X, Angelman, Rett, tuberous sclerosis, phenylketonuria, and 22q11.2 deletion syndrome (also known as velocardiofacial syndrome). In addition, up to 7 percent of children with Down syndrome meet diagnostic criteria for ASD. Establishing a diagnosis of ASD in a child with a known primary genetic disorder can be a challenge, as ASD symptoms may also be solely attributed to a prior underlying genetic diagnosis. For example, most children with Down syndrome demonstrate better social understanding and behavior than other children who have similar levels of cognitive and communication delay, including those with ASD. Occasionally, parents are not clear as to whether their child with Down syndrome could also have ASD. Parents may view a lack of social-communication skills, repetitive behaviors, and self-injury as reflective of Down syndrome, when in fact these symptoms are classic signs of ASD. Although a child may have a primary and definitive genetic diagnosis, it is critical for clinicians to identify such co-occurring neurodevelopmental issues as ASD, so that supports targeting a child’s strengths and functional deficits can be augmented appropriately.

A regression in development is often viewed as a hallmark of ASD. Nearly 30 percent of children with ASD demonstrate a regression of skills, including social skills and gesture use, as well as the verbal skills we previously mentioned. If a clear language regression has occurred or seizures are noted, an EEG should be considered. The AAP further recommends a referral to a pediatric neurologist when a child presents with a regression of language or other developmental milestones, a history of seizures/epilepsy, or abnormal findings on a neurological exam, in which case neuroimaging is also warranted. When dysmorphic features are noted on a child’s physical exam, consultation with a clinical geneticist is recommended. Neuroimaging (MRI or CT) and specific genetic testing (for example, DNA for fragile X and either chromosomal microarray or karyotype) are recommended when ASD is accompanied by intellectual disability.

Clinicians at UTP’s Center for Autism and Related Conditions meet to discuss their assessments before providing feedback to the family when appropriate. Once a formal diagnosis of ASD is made, families face the challenges of obtaining therapies. Insurance coverage, if available, often depends on detailed documentation of the diagnostic evaluation (and the standardized measures used). In Texas, public services are available through the Early Childhood Intervention program (for children from birth to three years) and through public school special education programs (for children three years and older). However, continuing government cutbacks limit the availability of public services, and waiting lists for both public and private services are often long. Families may also face geographic restrictions in accessing service programs. Because the systems of service providers are complex and difficult to navigate, parents may be overwhelmed and become vulnerable to practitioners advertising alternative treatments that have little scientific data to support their safety or use with children. Connecting parents to local and national support groups is one way clinicians can help families move forward in a realistic way after they receive an ASD diagnosis.

At UTHealth and CLI, the diagnostic assessment is the first step of an evolving collaborative relationship between patients, families, and clinicians. Monitoring a child‘s progress, identifying therapeutic, educational, and medical interventions, and addressing complex psychosocial and family needs are just a few of the steps that follow an initial diagnostic assessment. Continued research and gains in scientific knowledge of ASD are essential to progress in standardizing the diagnosis of ASD and providing evidence-based and scientifically informed clinical care.

About the Authors: Anson J. Koshy, M.D., M.B.E. is a board-certified developmental and behavioral pediatrician. He is an assistant professor in the Department of Pediatrics and the McGovern Center for Humanities & Ethics at the UTHealth McGovern Medical School. Dr. Koshy is the medical director of the UT Physician’s Pediatric Center for Autism and Related Conditions at the Children’s Learning Institute. He is also vice president of the Houston Branch of the International Dyslexia Association. His research interests range from the use of culturally appropriate behavioral screening in the primary care setting to ethical issues in pediatric care. W. Daniel Williamson, M.D., a developmental pediatrician, is a professor of pediatrics at the McGovern Medical School and medical director of the Dan. L. Duncan Children’s Neurodevelopmental Clinic in the Children’s Learning Institute at UTHealth. He is a member of the Society for Developmental and Behavioral Pediatrics and was elected to the national Society for Pediatric Research for his research in the neurodevelopmental outcomes of children with congenital cytomegalovirus, premature birth, and visual impairment.

Watch the recorded version of the Spring Lunch and Learn, Understanding Autism: Red Flags and Resources for Families and Schools here

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