Autism spectrum disorder
AssessmentsAutism spectrum disorder
Autism spectrum disorder
USMLE® Step 1 style questions USMLE
A 4-year-old boy is brought to the pediatrician for evaluation of unusual behavior. His parents are concerned about his intellectual development and state that he is “quiet” and almost always by himself, both at home as well as in daycare. He plays with toy trains for hours daily. If the toys are misplaced, he becomes enraged and throws tantrums, which involve him banging his head against the wall. The patient was born full-term, and the pregnancy was uncomplicated. Weight and height are at the 55th percentile. During the examination, the patient does not make eye contact with the physician and sits in the corner playing with his toy trains. The physician attempts to take a train from the patient, which causes him to shout, cry, and flap both hands. The remainder of the physical examination is noncontributory. Which of the following is the most likely diagnosis?
Content Reviewers:Rishi Desai, MD, MPH
Contributors:Tanner Marshall, MS, Vincent Waldman, PhD
Even though everyone develops at slightly different paces, almost everyone hits the same general developmental milestones and learns the same sets of skills on about the same timeline.
These skills progress as the brain develops, and they include: language and communication; social interaction; cognitive skills, like problem solving; and physical milestones, like walking, crawling, and fine motor skills.
If one of these skills doesn’t develop as scheduled, it may, depending on the severity of the delay, be described as a type of neurodevelopmental disorder, neuro referring to the brain.
When certain skills related to socializing and communicating don’t proceed as expected, this can result in isolation.
This is where the name autism originated: auto means “self,” and so autism refers to a condition where somebody might be removed from social interaction and communication, leaving them alone or isolated.
Before 2013, the DSM-4 (which has since been updated to the DSM-5), described autism as one of several pervasive developmental disorders, a category that also includes Asperger’s syndrome, childhood disintegrative disorder, and those pervasive developmental disorders that are not otherwise specified, or PDD-NOS for short.
Asperger’s syndrome was used to describe children who appeared to have characteristics of autism, like difficulties with social interactions or non-verbal communication, but didn’t generally have significant delays in language or cognitive development.
Therefore, Asperger’s syndrome was sometimes referred to as a “high-functioning” form of autism.
Childhood disintegrative disorder was used to describe the late onset of developmental delays.
These children developed typically at first, but then they seemed to lose their acquired social and communication skills sometime between ages two and ten.
“Pervasive developmental disorder: not otherwise” specified is essentially a catch-all category in which patients meet some, but not all, diagnostic criteria of autism, Asperger’s syndrome, or childhood disintegrative disorder.
Researchers found, however, that because these pervasive developmental disorders tend to have similar signs and symptoms, their diagnoses weren’t consistent across different clinics.
As of 2013, the DSM-5, the new and revised edition, removed these terms and replaced them with autism spectrum disorder, or ASD.
The term ASD encompasses all the previous pervasive developmental disorders, but it’s measured on a scale, or a spectrum, that differentiates between patients in two major areas: social communication and interaction deficits, and restrictive or repetitive behavior, interests, and activities.
There are four subcategories in which clinicians look for social and communication deficits.
The first is social reciprocity, which refers to how people respond to others , or reciprocate, in social interactions.
An example of an impairment in this area might be a preference for being alone and not taking a role in social games.
The second area of potential deficit is joint attention, which is the state of wanting to share an interest with someone else.
So, an example of an impairment might be a child not sharing their interests or any objects they’re amused by with their parent.
Next, there’s nonverbal communication, which refers to either difficulties using nonverbal communication or their difficulty interpreting nonverbal cues from someone else.
For example, maybe a child won’t put their arms out when they want to be picked up, or they won’t be able to tell when a parent’s upset, even if the parent’s frowning and crossing their arms.
The last subcategory of communication deficits is those that affect social relationships and lead people to have trouble developing and maintaining relationships.
So, a person might have a hard time making friends, or they’re able to make friends but their behavior tends to drive them away.
The other major area in which deficits are diagnosed is that of restricted and repetitive behaviors, and this category is quite broad.
Some such behaviours are more well-known or more frequently characterized than others, and these include lining up toys in a ritualistic way, flapping one’s hands, and imitating words or phrases.