The Clinician’s Guide to Autism
Abstract
After completing this article, readers should be able to:Autism spectrum disorder (ASD) includes a continuum of neurodevelopmental disorders characterized by deficits in social communication and interactions, along with restrictive, repetitive patterns of behaviors, interests, and activities. (For this article, ASD and autism are used interchangeably.) Pediatric clinicians can significantly affect the outcome of children with ASD by making an early diagnosis and providing referral for evidenced-based behavioral treatment. By recognizing the early signs and symptoms of autism and addressing common comorbid concerns, such as sleep problems, gastrointestinal problems, seizures, and behavioral and psychiatric concerns, as well as being aware of complementary and alternative medicine (CAM) therapies, clinicians can provide a more comprehensive medical home for their patients and parents.Recent data from the National Survey of Children’s Health from 2011–2012, which estimates parent-reported ASD diagnoses for school-aged children, placed the current prevalence of autism at 2%. (1) However, the Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring Network, which requires more definitive diagnostic testing, estimates the prevalence of ASD in the United States at 1 in every 88 children. Because males outnumber females 4 to 1, this translates into an incidence of 1 in 54 males and 1 in 252 females. (2) This recent estimated prevalence rate represents an increase of 23% compared with the 2006 estimate of 1 in 110 children. With the steady increase during the past 2 decades, ASD has become an urgent public health concern. A recent study by Hallmayer et al (3) of the largest collection of fraternal and identical twins revealed that genetic and environmental factors likely have an equal effect on determining an autism diagnosis with sibling risk rates at or above 25%.The increase in diagnosis of autism during the last 20 years has raised public concern and questions on possible causes. Reasons for the increase include diagnostic substitution, broadening of the definition of ASD, and better screening and ascertainment. Diagnostic substitution assumes that children previously were diagnosed only as being developmentally delayed and/or intellectually disabled and not appropriately diagnosed as having an ASD. Monitoring networks have allowed multiple records (clinicians and schools) to be reviewed, which has led to better ascertainment of children diagnosed as having an ASD. In addition, concerted efforts by multiple sources (American Academy of Pediatrics, Autism Speaks, and FirstSigns.org) to improve screening at a younger age have had an effect. Finally, the broader definition of autism, now referred to as ASD has allowed more cases of ASD to be diagnosed. The most recent report from the Centers for Disease Control and Prevention indicates that the biggest increase in cases is among the higher-functioning patients with less severe disease and in African American and Hispanic populations. (1)(2)Commonly, the first sign that alerts a pediatric clinician to a child with possible autism is a deficit in communication, manifested by a delay in or abnormal use of language, at approximately ages 18 to 24 months. A child with autism may initially be mute, have a significant delay in language acquisition, or have a regression in language. If the child is speaking, he or she may only exhibit echolalia, repeating words and phrases previously heard. In some instances, children with autism may develop language normally and be quite verbose, but they only speak tangentially about their specific interests without any concern about the listener’s response. Children with autism may also have trouble modulating their vocal tone (ie, monotone), with little inflection in their voice. Because of these deficits in language and reciprocity, many children tend to have an inability to initiate or sustain a conversation with others.Social reciprocity is the give and take of social interaction and requires the child to have the ability to recognize another person’s perspective. Children with autism have difficulty with social reciprocity; thus, they have trouble establishing relationships with same-aged peers. This inability to socially share or reciprocate implies that a child with autism may not empathize well. These social deficits impair one’s ability to maintain joint attention (ability to attend to an activity with another person), read body language, and respond to nonverbal cues. A red flag for these difficulties is an inability to point to a desired object at 18 months (protoimperative pointing), but even more important is whether the child uses pointing to draw something to the attention of another, referred to as protodeclarative pointing. Children with autism may pull their caregiver by the hand to a desired object by hand guiding. Direct eye contact may be difficult and avoided by children with au
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Animal models of social behavior, including the mice used here, do not fully recapitulate the complexity and natural process in which humans interact, or capture the wide spectrum of behavioral phenotypes that are affected by ASD.
“animal models of social behavior, including the mice used here, do not fully recapitulate the complexity and natural process in which humans interact, or capture the wide spectrum of behavioral phenotypes that are affected by ASD 14,48,49.”
From Reduced sociability and social agency encoding in adult Shank3-mutant mice are restored through gene re-expression in real time (2021) · cites this paper as [49]
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- Authors
- Harrington, J. W., & Allen, K.
- Affiliations
- Eastern Virginia Medical School (US)
- Venue
- Pediatrics In Review
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2014-02-01
- Volume
- 35
- Issue
- 2
- Pages
- 62-78
- ISSN
- 0191-9601 (ISSN-L)
- 1526-3347
- OpenAlex
- W4205511640
- Cited by
- 16
- References
- 30
- Citations by year
- 2023: 4 · 2022: 1 · 2021: 3 · 2020: 3 · 2018: 5
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Pediatrics in Review (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Keywords
- autism spectrum disorder, early diagnosis, autism prevalence, autism screening, behavior therapy, comorbidities, sleep disorders, gastrointestinal problems, seizures, psychiatric comorbidity, complementary and alternative medicine, patient-centered medical home, genetic and environmental risk factors, social communication deficits, National Survey of Children's Health
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