Developmental and learning disorders: Pathology review

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Questions

USMLE® Step 1 style questions USMLE

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An 11-year-old boy is brought to the pediatrician by his parents for evaluation of behavior problems. The patient has been frequently interrupting his parents when they are speaking with others. He often forgets to complete tasks assigned to him, such as cleaning up toys or taking out the trash and is easily distracted. His parents state that when they speak to him, he often does not seem to listen. The patient has been performing poorly in school, and his parents are scheduled to meet with the teacher next week. Past medical history is notable for a tonsillectomy at age 9. Height and weight are consistently tracking at the 50th percentile. Physical examination is unremarkable. Which of the following would be most useful in identifying the patient’s underlying condition?  

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A 9 year old male, named Yama, is brought to the clinic by his mother, who is concerned about Yama’s behavior. She explains that his teacher has repeatedly complained about yama constantly disrupting the class and interrupting his classmates. In addition, Yama also seems to struggle paying attention to his teacher and constantly forgets to do his assignments. At home, Yama seems to find it hard to sit still, and often disregards anything his parents tell him. Yama’s mother estimates this behavior started about 8 months ago, and she thought it would just be a phase. During the visit, you notice that Yama seems restless and is constantly grabbing objects around him.

Okay, based on the initial presentation, yama seems to have some form of developmental and learning disorder. Now, everyone develops at slightly different paces, but almost everyone hits the same general developmental milestones and learns the same sets of skills at about the same time. These are things like language and communication, socializing, cognitive skills like problem solving, and physical milestones like walking, crawling, and fine motor skills, all of which all progress as the brain develops.

If one of these doesn’t develop as scheduled, it may be described as a type of developmental and learning disorder.

These include several psychological conditions that typically have their onset during childhood, although some of these disorders may last into adulthood. As a consequence, these disorders can interfere with how the affected person functions independently in society, and impair everyday activities like working, studying, eating, and sleeping, as well as have an impact on their families.

For your exams, the most high yield developmental and learning disorders are autism spectrum disorder, rett syndrome, intellectual disability, specific learning disorder, and attention deficit hyperactivity disorder.

Okay, let’s start with autism spectrum disorder. For your exams, remember that this is more common in males and typically first presents in early childhood, before the age of 3, and lasts throughout the individual’s life. Now, autism spectrum disorder is thought to have a genetic cause, which ultimately affects brain development, and may lead to an enlarged brain or head. And that’s extremely high yield!

Now, for the diagnosis of autism spectrum disorder, there are two core types of deficits: social communication and interaction deficits, and restrictive or repetitive behavior, interests, and activities. So, for the social communication and interaction area, there should be deficits in all three of the following areas. First is deficits in social-emotional reciprocity, which refers to how children respond or reciprocate in social or emotional interactions. Second is deficits in nonverbal communication, which refers to difficulties either using nonverbal communication themselves, like putting their arms out when they want to be picked up; or interpreting nonverbal cues from someone else, like being unable to tell when a parent’s upset, even if the parent’s frowning and crossing their arms. And third is deficits in developing, maintaining, and understanding social relationships, which ranges from adjusting their behavior to suit a specific context, to difficulties with making and keeping friends.

Sources

  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "Diagnostic and Statistical Manual of Mental Disorders" (2013)
  5. "The savant syndrome: an extraordinary condition. A synopsis: past, present, future" Philosophical Transactions of the Royal Society B: Biological Sciences (2009)
  6. "Practitioner Review: What have we learnt about the causes of ADHD?" Journal of Child Psychology and Psychiatry (2012)
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