Review articleAutism spectrum disorder 101: A primer for pediatric otolaryngologists☆
Introduction
Autism spectrum disorder (ASD) is a disorder of early brain development affecting social interaction of both verbal and nonverbal communication. Affected children display restricted and/or repetitive behaviors and can be of varying intelligence. Symptoms are present early in childhood, but the disease is lifelong in nature [1], [2]. Autism is now categorized as a spectrum disorder as children may present with variable abilities within the criteria of symptoms [2]. This can often make identification a challenge and lead to a delay in diagnosis [3]. Recently published data from the Center for Disease Control and Prevention (CDC) shows that ASD continues to increase in prevalence with 1 in 68 children affected [4]. Many children are initially referred to an otolaryngologist for evaluation of hearing and communication delays. This presents an opportunity for the otolaryngology community to assist with early diagnosis and management of this patient population.
Autism spectrum disorder was first described in 1943. A group of 11 children who had a preference for isolation and obsession for sameness was reported by psychiatrist Leo Kanner [5]. Hans Asperger, an Austrian pediatrician unaware of the prior report, published a paper in 1944 describing a similar group of children, but with higher verbal and cognitive skills [6]. By 1960, autism was viewed as a form of childhood schizophrenia. As a deeper understanding of the process developed, differences in brain maturation came to light as the foundation of the disease process [7]. In 1980, the Diagnostic and Statistical Manual of Mental Disorders (DSM) third edition distinguished autism from childhood schizophrenia [8]. The diagnostic criteria were most recently updated in 2013 in the DSM fifth edition, placing all autism subcategories into a single umbrella diagnosis of Autism Spectrum Disorder (ASD). This includes the previous disorders known as Asperger disorder, pervasive developmental disorder—not otherwise specified (PDD-NOS), and autism. The DSM fifth edition defines ASD as persistent difficulties in social communication and interaction across multiple contexts with restricted and repetitive patterns of behavior, which presents early in age and causes significant impairment in function[2]. These new diagnostic criteria essentially merged communication and social interaction behaviors into one symptom category, and increased the importance of the repetitive and restrictive behavior into the requirements for a diagnosis of an autism spectrum disorder [7].
ASD currently affects more than 2 million people in the United States. The incidence of ASD in 2000 suggested a prevalence of 6.7 per 1,000, or 1 in 150 children affected [9]. Recent data released from 2010 shows an increased prevalence of 14.7 per 1000 children, thus the incidence has now risen to 1 in 68 children affected [4]. Males are more commonly affected than females with a stable 5 to 1 incidence. This translates into 1 of every 42 boys and 1 of every 189 girls being affected [4]. Though there is no exact explanation for the increase in prevalence over the past 10 years, some credence can be given to an increased awareness of the disease process and therefore diagnosis [1], [3], [4], [9], [10], [11].
Initial symptoms may be apparent in early childhood, but notable deficits are not always recognized until a child becomes unable to meet expected milestones for social and educational demands [12]. Frequently this makes diagnosis challenging and may lead to a delay in diagnosis. Early screening by professionals can accurately identify patients with ASD by age 2 and sometimes as early as 18 months. However, the average age of diagnosis is 4.5 years currently [1]. The American Academy of Pediatrics (AAP) has now recommended implementing routine developmental and autism screening for all patients at the 18 and 30 month exams, or whenever a caregiver expresses concerns [13]. Every patient with ASD should be screened for speech and language disorders and vice versa. Language impairment varies in presentation, and it is estimated that 25% of patients are nonverbal [14], [15]. It is important to note that overall intelligence of this group is found to be higher than initially appreciated. Of patients diagnosed, forty-six percent will demonstrate average or above average intellectual functioning [1], [14].
Identification of specific characteristics associated with ASD can be helpful in diagnosis. Patients with ASD may have poor eye contact and delayed fine motor skills. Tone of voice may not match expressed feelings with phrases often being monotone. Empathy is difficult to express or understand. Rules of conversation such as taking turns or rephrasing to assist in story telling may not be followed. Physical contact can often be uncomfortable and children may shy away from cuddling or touch. Thought processes are often concrete leading to difficulty understanding literary expressions and idioms. Hypersensitivity to loud noises, bright lights, and strong smells may be noted. Preference for predictability is preferred over change [1], [2], [14].
Section snippets
Awareness of diagnosis
As ASD prevalence continues to increase, awareness and understanding of this diagnosis is crucial to both the pediatric and general otolaryngologist. ASD is a lifelong disability affecting all ages of the ENT patient population. Patients with ASD have a slightly higher incidence of comorbid medical conditions including attention deficit hyperactivity disorder, sleep disturbances, food allergies, eczema and asthma.[16], [17] Use of effective communication strategies, creating a patient centered
Conflict of interest statement
The authors have no funding, financial relationships, or conflicts of interest to disclose.
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This article was presented at the 2014 Society for Ear Nose and Throat Advances in Children (SENTAC) meeting, Saint Louis, Missouri, U.S.A. December 5–7 2014.