The American Academy of Pediatrics has guidelines for the ongoing monitoring of a child's development by the primary care provider.4 Even with careful monitoring of developmental milestones, early symptoms of ASD can be easily overlooked. Children with ASD who receive an early accurate diagnosis and receive services in the preschool years are likely to have improved developmental outcomes.5 Given the high prevalence of ASD, clinicians must be able to recognize the signs of ASD so that a prompt and appropriate referral can be made.
The Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM IV) first introduced the term ASD as an umbrella term for five separate disorders that shared similar deficits in communication, social interaction, and behavior.6 These disorders were autistic disorder, Asperger syndrome, childhood disintegrative disorder, Rett syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS).7 When the DSM IV was in use, the prevalence of autism increased rapidly, from 1 in 150 children in the United States in 2000 to 1 in 59 children in 2014.2 This rapid increase in cases led many researchers to examine possible explanations. One of the avenues of study was increased scrutiny of diagnostic practices. Evidence suggests that, for some cases, the diagnostic criteria were subject to interpretation and were applied inconsistently across clinicians.8
The DSM 5, published in 2013, presented a set of criteria for ASD that was vastly different from that published in the DSM IV.8 Terminology changed; the specific diagnostic labels were removed and all patients meeting criteria are now given the single label of ASD. Rett syndrome is now considered a very distinct disorder and most patients have a genetic mutation on the MeCP2 gene.9 Removal of the Asperger label from the DSM 5 created significant concern among the Asperger community that many patients with this diagnosis would lose access to needed services; however, recent studies suggest most patients will qualify for services under the new criteria for ASD.8
Under the new criteria, patients are diagnosed with ASD if they have challenges in social communication/social interaction not caused by developmental delays, and demonstrate restricted, repetitive patterns of behavior, interests, or activities.10 These symptoms must be present in early childhood and impair the child's everyday functioning.10 The severity of symptoms and effect on quality of life are now assessed and rated, and patients are classified as Level 1, Level 2, or Level 3 depending upon the level of support needed, with Level 3 patients needing the most support.10 A diagnosis of ASD is made based on these clinical criteria because no medical tests exist for the disorder.
If a parent or caregiver expresses concern about a child's development, the clinician should obtain a thorough history including the child's acquisition of developmental milestones and any significant medical history, and then complete a screening tool to determine if the child has some of the core concerns of ASD. One of the first screening instruments developed to identify children at risk for autism was the Checklist for Autism in Toddlers (CHAT), created by Baron-Cohen and colleagues in the early 1990s.11 CHAT typically is first given by a healthcare provider when a toddler is age 18 months.11 Key items on the tool can indicate whether a child may be at increased risk for an ASD diagnosis, such as failing to point, failing to respond to his or her name, or failing to imitate the behavior of others. In the late 1990s, CHAT was modified into a more comprehensive parent-report questionnaire, the Modified Checklist for Autism in Toddlers (M-CHAT).12 The most updated version, the M-CHAT-Revised/Follow-up (M-CHAT R/F), was published in 2014 to reduce the number of false positives.13 All versions have sound psychometric properties, and the M-CHAT or M-CHAT-R/F can be used as an initial screening tool.13 However, clinicians should not solely rely on self-reported instruments because many of the early signs of ASD are easily overlooked, especially in a young child with limited verbal skills. Key behaviors can help clinicians determine whether a child is at risk for ASD.
SIGNS AND SYMPTOMS
Symptoms of ASD can be challenging to identify during a screening because the toddler or child is seen for a limited time and in a small examination room. The medical office is an unfamiliar environment and the child and caregiver may be stressed by its sights and sounds. Take time to engage and observe the child in a variety of activities and elicit parental input as much as possible. The following section details the social communication challenges and behavioral signs that indicate the need to refer the patient for further evaluation. Remember that expectations about social communication and behaviors vary depending on the patient's age. This article focuses on what is expected of children under age 5 years, as this is the group that is most likely to present in the office with developmental concerns that are not yet diagnosed.
A deficit in social-emotional reciprocity is a core feature of ASD, and affects nonverbal communicative behaviors used for social interaction and the ability to develop, maintain, and understand relationships.14 Social-emotional challenges take many forms. In toddlers, signs that may suggest ASD include a lack of interest or enjoyment in sharing a toy, book, or activity with an adult. Toddlers may take a toy to an adult if they have difficulty manipulating the object, but will not seek out the shared enjoyment of playing with the toy together. Many toddlers with ASD symptoms lack the ability to maintain joint attention with a familiar person. Joint attention is the shared focus of two individuals on an object or event, such as looking at a book together or playing patty-cake. Establishing eye contact while talking or playing is another form of joint attention, and usually is problematic for children with ASD. Toddlers with developmental language delays, who are late to speak but do not have ASD, usually have no difficulty using good eye contact or establishing joint attention.15
Another potential sign of ASD may be difficulty understanding and using gestures. For example, if an adult points to an object, the gaze of a typically developing toddler will follow the point. A toddler with ASD will not follow the point and not be responsive to the adult's command to look. Difficulty in responding to or using gestures also is a sign of ASD. Toddlers with ASD will not respond to a gesture to come here or to a point. In turn, they will neither point or gesture at an object they are interested in nor wave goodbye to a person who is walking away. If a clinician observes that a toddler is not using gestures, nor using eye contact with adults or other children, or not responding by looking when his or her name is called, consider that the child has trouble with social-emotional reciprocity and investigate further.
Children with ASD often present with delayed language that affects their ability to navigate social interactions. Some children may have severe language impairments with little to no language; other children will appear to have normal developing verbal skills, though the use of language for social purposes is affected.16 For example, a child may speak in sentences but not know how to ask or answer questions or maintain a conversation. Understanding expectations for when and how language develops can help clinicians in their diagnostic efforts. A typically developing child should speak his or her first words around age 1 year and speak in two-word sentences by his or her second birthday. An 18-month-old child who presents to the office with little to no language should be referred for a full speech and language evaluation. The results can provide valuable diagnostic information to help clinicians differentiate developmental language delay from ASD.
Deficits in social communication may be subtle in children who develop some language by age 2 years. For these children, concerns will become apparent when they approach age 3 years and are not able to engage in imaginative play with peers. This usually is secondary to limits in language development and the use of symbolism, which prevents children with ASD from pretending, role-playing, and taking turns in conversation. Preschoolers with ASD will not be interested in peers or siblings and will not try to copy their activities or join in games. These children have difficulty making friends with typically developing peers.
Patients with ASD can present with a range of behaviors and no two patients will present with the same profile. Common concerns include hyper- or hyposensitivity to sounds or touch, use of repetitive patterns (such as hand flapping or repeated speech), or strict insistence on routines. These behaviors present in varying degrees and some of the classic behaviors of autism are absent in some children or completely debilitating in others.
Stereotyped or repetitive motor movements of objects or speech are some of the early signs caretakers report that they notice in their toddler or child. This can take the form of echolalia, which involves excessive repetition of words or sentences.17 A young child may repeat lines from a favorite story or movie, or repeat a question instead of providing an answer. When interacting with objects, the child may focus on a small part of the toy, such as spinning wheels on a car or shaking a block. Toddlers with ASD typically limit their play with objects to a few actions, such as shaking all objects, even if they are not meant to be shaken.
Insistence on sameness, or inflexible adherence to routines or ritualized patterns of nonverbal or verbal behavior, can be seen in patients with ASD.18 An example of this may be refusing to try on new shoes or insisting that the same sandals be worn all year, regardless of the weather or the season. A child may insist on using the same route each day to preschool and begin to have a tantrum if a parent takes an alternate route.
Highly restricted, fixated interests that are abnormal in intensity or focus also may be a cause for concern and suggestive of ASD.19 Caretakers may report perseverative play or a focus on certain toys or objects. An example of this is playing with the same toy over and over, repeatedly drawing the same image over and over, or refusing to draw new images. Additionally, if the child is verbal, he or she may repeat the same question or phrase, regardless of the response received.
Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment may be seen with different degrees of severity.20 Some toddlers or children may demonstrate extreme fear in response to household noises, such as the blender, vacuum, or hair dryer. Others may require more sensory input in the form of deep pressure to “wake the body up” and become responsive to the environment. Some children only eat crunchy or spicy foods, which provide extra input to the oral area, and may avoid blander foods such as rice or pudding. Sensory processing difficulties are common in patients with ASD and can affect social interaction and learning.21
A full review of the treatment options for ASD is beyond the scope of this article. The value of a good diagnosis cannot be minimized; it can set the path for appropriate, effective, and efficient treatment. However, treatments should be individualized to address the patient's needs, regardless of the diagnosis. Best practices for assessment and intervention for ASD consist of a multidisciplinary team approach, including a speech-language pathologist, occupational and physical therapist, social worker, psychologist, and neurologist.22 A recent systematic review of effective cognitive, behavior, and social interventions found that reciprocal imitation training, symbolic play, and music-based interventions yielded the largest gain in communication and social interaction.23 The choice of treatment should be based on the patient's needs, presenting symptoms, and wishes of the family.
Kyle entered early intervention upon diagnosis and received applied behavioral analysis, speech therapy, occupational therapy along with physical therapy. He has integrated with neurotypical children since he entered preschool at age 3 years. Kyle is now age 9 years, in a typical classroom, without support and requires some assistance with social situations.
Early intervention tailored to the child's needs is key to the best outcome and achieving optimal functioning. Valuable resources are available online for clinicians and families to help explore treatment and support strategies. One such resource is Autism Speaks (www.autismspeaks.org/), which provides information on a range of available services.
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Keywords:Copyright © 2019 American Academy of Physician Assistants
autism; autism spectrum disorder; developmental; DSM 5; early intervention; social reciprocity